Criteria Specification Registry

Criteria Specification (CSpec) Registry is intended to provide access to the Criteria Specifications used and applied by ClinGen Variant Curation Expert Panels and biocurators in the classification of variants.

For general information about the ClinGen Expert Panels and Variant Curation please visit: Clinical Domain Working Groups. For specific inquiries regarding content correction or adding a new criteria specification refer to the Help page.

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Summary of Criteria Codes

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ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.2

ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.2
Rule Set:	Rules For LDLR
Disease(s)	hypercholesterolemia, familial, 1
Gene(s)	LDLR
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYH7 Version 2.0.0

ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYH7 Version 2.0.0
Rule Set:	Rules For MYH7
Disease(s)	dilated cardiomyopathy, hypertrophic cardiomyopathy
Gene(s)	MYH7
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTEN Version 3.1.0

ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTEN Version 3.1.0
Rule Set:	Rules For PTEN
Disease(s)	NA
Gene(s)	PTEN
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDH23, COCH, GJB2, KCNQ4, MYO6, MYO7A, SLC26A4, TECTA and USH2A Version 2

ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDH23, COCH, GJB2, KCNQ4, MYO6, MYO7A, SLC26A4, TECTA and USH2A Version 2
Rule Set:	Rules For CDH23, COCH, GJB2, KCNQ4, MYO6, MYO7A, SLC26A4, TECTA, USH2A
Disease(s)	Usher syndrome, nonsyndromic genetic hearing loss, Pendred syndrome
Gene(s)	CDH23, COCH, GJB2, KCNQ4, MYO6, MYO7A, SLC26A4, TECTA, USH2A
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Phenylketonuria Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PAH Version 2.0.0

ClinGen Phenylketonuria Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PAH Version 2.0.0
Rule Set:	Rules For PAH
Disease(s)	phenylketonuria
Gene(s)	PAH
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 3.1

ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 3.1
Rule Set:	Rules For CDH1
Disease(s)	hereditary diffuse gastric adenocarcinoma
Gene(s)	CDH1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Myeloid Malignancy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2

ClinGen Myeloid Malignancy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
Rule Set:	Rules For RUNX1
Disease(s)	hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Gene(s)	RUNX1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TP53 Version 2.2.0

ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TP53 Version 2.2.0
Rule Set:	Rules For TP53
Disease(s)	Li-Fraumeni syndrome
Gene(s)	TP53
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2

ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
Rule Set:	Rules For GAA
Disease(s)	glycogen storage disease II
Gene(s)	GAA
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2.1

ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2.1
Rule Set:	Rules For ITGA2B, ITGB3
Disease(s)	Glanzmann thrombasthenia
Gene(s)	ITGA2B, ITGB3
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Malignant Hyperthermia Susceptibility Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RYR1 Version 2

ClinGen Malignant Hyperthermia Susceptibility Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RYR1 Version 2
Rule Set:	Rules For RYR1
Disease(s)	malignant hyperthermia of anesthesia
Gene(s)	RYR1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_ntDNA

ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_ntDNA
Rule Set:	Rules For SLC19A3	Rules For PDHA1	Rules For POLG	Rules For ETHE1
Disease(s)	biotin-responsive basal ganglia disease	pyruvate dehydrogenase deficiency	mitochondrial disease	ethylmalonic encephalopathy
Gene(s)	SLC19A3	PDHA1	POLG	ETHE1
Genetype	nuclear	nuclear	nuclear	nuclear
Criteria Code	Strength Specification	Strength Specification	Strength Specification	Strength Specification

ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_mtDNA

ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_mtDNA
Rule Set:	Rules
Disease(s)	NA
Gene(s)	NA
Genetype	mitochondrial
Criteria Code	Strength Specification

ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PALB2 Version 1.1.0

ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PALB2 Version 1.1.0
Rule Set:	Rules For PALB2
Disease(s)	hereditary breast carcinoma, familial pancreatic carcinoma, Fanconi anemia complementation group N
Gene(s)	PALB2
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen VHL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VHL Version 1.0.0

ClinGen VHL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VHL Version 1.0.0
Rule Set:	Rules For VHL
Disease(s)	NA
Gene(s)	VHL
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Coagulation Factor Deficiency Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for F9 Version 1.0.0

ClinGen Coagulation Factor Deficiency Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for F9 Version 1.0.0
Rule Set:	Rules For F9
Disease(s)	hemophilia B
Gene(s)	F9
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen von Willebrand Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VWF Version 1.0.0

ClinGen von Willebrand Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VWF Version 1.0.0
Rule Set:	Rules For VWF
Disease(s)	von Willebrand disease type 2A, von Willebrand disease type 2B, von Willebrand disease type 2M, von Willebrand disease 2, von Willebrand disease (hereditary or acquired)
Gene(s)	VWF
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Thrombosis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SERPINC1 Version 1.0.0

ClinGen Thrombosis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SERPINC1 Version 1.0.0
Rule Set:	Rules For SERPINC1
Disease(s)	hereditary antithrombin deficiency
Gene(s)	SERPINC1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF4A Version 2.0.0

ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF4A Version 2.0.0
Rule Set:	Rules For HNF4A
Disease(s)	monogenic diabetes
Gene(s)	HNF4A
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GCK Version 1.3.0

ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GCK Version 1.3.0
Rule Set:	Rules For GCK
Disease(s)	monogenic diabetes
Gene(s)	GCK
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MRAS Version 1.1.0

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MRAS Version 1.1.0
Rule Set:	Rules For MRAS
Disease(s)	RASopathy
Gene(s)	MRAS
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for APC Version 2.1.0

ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for APC Version 2.1.0
Rule Set:	Rules For APC
Disease(s)	familial adenomatous polyposis 1
Gene(s)	APC
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen von Willebrand Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VWF Version 1.0.0

ClinGen von Willebrand Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VWF Version 1.0.0
Rule Set:	Rules For VWF
Disease(s)	von Willebrand disease type 2N
Gene(s)	VWF
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA1 Version 1.1.0

ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA1 Version 1.1.0
Rule Set:	Rules For BRCA1
Disease(s)	breast-ovarian cancer, familial, susceptibility to, 1
Gene(s)	BRCA1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for LZTR1 Version 1.1.0

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for LZTR1 Version 1.1.0
Rule Set:	Rules For LZTR1
Disease(s)	RASopathy
Gene(s)	LZTR1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYBPC3 Version 1.0.0

ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYBPC3 Version 1.0.0
Rule Set:	Rules For MYBPC3
Disease(s)	hypertrophic cardiomyopathy
Gene(s)	MYBPC3
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA2 Version 1.1.0

ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA2 Version 1.1.0
Rule Set:	Rules For BRCA2
Disease(s)	breast-ovarian cancer, familial, susceptibility to, 2
Gene(s)	BRCA2
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TNNI3 Version 1.0.0

ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TNNI3 Version 1.0.0
Rule Set:	Rules For TNNI3
Disease(s)	hypertrophic cardiomyopathy
Gene(s)	TNNI3
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TNNT2 Version 1.0.0

ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TNNT2 Version 1.0.0
Rule Set:	Rules For TNNT2
Disease(s)	hypertrophic cardiomyopathy, dilated cardiomyopathy
Gene(s)	TNNT2
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TPM1 Version 1.0.0

ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TPM1 Version 1.0.0
Rule Set:	Rules For TPM1
Disease(s)	hypertrophic cardiomyopathy
Gene(s)	TPM1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACTC1 Version 1.0.0

ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACTC1 Version 1.0.0
Rule Set:	Rules For ACTC1
Disease(s)	hypertrophic cardiomyopathy
Gene(s)	ACTC1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYL2 Version 1.0.0

ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYL2 Version 1.0.0
Rule Set:	Rules For MYL2
Disease(s)	hypertrophic cardiomyopathy
Gene(s)	MYL2
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYL3 Version 1.0.0

ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYL3 Version 1.0.0
Rule Set:	Rules For MYL3
Disease(s)	hypertrophic cardiomyopathy
Gene(s)	MYL3
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for FOXN1 Version 1.0.0

ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for FOXN1 Version 1.0.0
Rule Set:	Rules For FOXN1
Disease(s)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Gene(s)	FOXN1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ADA Version 1.0.0

ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ADA Version 1.0.0
Rule Set:	Rules For ADA
Disease(s)	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Gene(s)	ADA
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MLH1 Version 1.0.0

ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MLH1 Version 1.0.0
Rule Set:	Rules For MLH1
Disease(s)	Lynch syndrome 2, mismatch repair cancer syndrome 1
Gene(s)	MLH1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DCLRE1C Version 1.0.0

ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DCLRE1C Version 1.0.0
Rule Set:	Rules For DCLRE1C
Disease(s)	severe combined immunodeficiency due to DCLRE1C deficiency
Gene(s)	DCLRE1C
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for IL7R Version 1.0.0

ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for IL7R Version 1.0.0
Rule Set:	Rules For IL7R
Disease(s)	immunodeficiency 104
Gene(s)	IL7R
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Leber Congenital Amaurosis/early onset Retinal Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RPE65 Version 1.0.0

ClinGen Leber Congenital Amaurosis/early onset Retinal Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RPE65 Version 1.0.0
Rule Set:	Rules For RPE65
Disease(s)	RPE65-related recessive retinopathy
Gene(s)	RPE65
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for JAK3 Version 1.0.0

ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for JAK3 Version 1.0.0
Rule Set:	Rules For JAK3
Disease(s)	T-B+ severe combined immunodeficiency due to JAK3 deficiency
Gene(s)	JAK3
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAG1 Version 1.0.0

ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAG1 Version 1.0.0
Rule Set:	Rules For RAG1
Disease(s)	recombinase activating gene 1 deficiency
Gene(s)	RAG1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAG2 Version 1.0.0

ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAG2 Version 1.0.0
Rule Set:	Rules For RAG2
Disease(s)	recombinase activating gene 2 deficiency
Gene(s)	RAG2
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Pulmonary Hypertension Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BMPR2 Version 1.1.0

ClinGen Pulmonary Hypertension Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BMPR2 Version 1.1.0
Rule Set:	Rules For BMPR2
Disease(s)	pulmonary arterial hypertension
Gene(s)	BMPR2
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RRAS2 Version 1.1.0

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RRAS2 Version 1.1.0
Rule Set:	Rules For RRAS2
Disease(s)	RASopathy
Gene(s)	RRAS2
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PPP1CB Version 1.1.0

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PPP1CB Version 1.1.0
Rule Set:	Rules For PPP1CB
Disease(s)	RASopathy
Gene(s)	PPP1CB
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for IL2RG Version 1.0.0

ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for IL2RG Version 1.0.0
Rule Set:	Rules For IL2RG
Disease(s)	T-B+ severe combined immunodeficiency due to gamma chain deficiency
Gene(s)	IL2RG
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Hereditary Hemorrhagic Telangiectasia Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACVRL1 Version 1.1.0

ClinGen Hereditary Hemorrhagic Telangiectasia Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACVRL1 Version 1.1.0
Rule Set:	Rules For ACVRL1
Disease(s)	telangiectasia, hereditary hemorrhagic, type 2
Gene(s)	ACVRL1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Hereditary Hemorrhagic Telangiectasia Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ENG Version 1.1.0

ClinGen Hereditary Hemorrhagic Telangiectasia Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ENG Version 1.1.0
Rule Set:	Rules For ENG
Disease(s)	telangiectasia, hereditary hemorrhagic, type 1
Gene(s)	ENG
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MSH2 Version 1.0.0

ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MSH2 Version 1.0.0
Rule Set:	Rules For MSH2
Disease(s)	Lynch syndrome 1, mismatch repair cancer syndrome 1
Gene(s)	MSH2
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MSH6 Version 1.0.0

ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MSH6 Version 1.0.0
Rule Set:	Rules For MSH6
Disease(s)	Lynch syndrome, mismatch repair cancer syndrome 1
Gene(s)	MSH6
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PMS2 Version 1.0.0

ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PMS2 Version 1.0.0
Rule Set:	Rules For PMS2
Disease(s)	Lynch syndrome 4, mismatch repair cancer syndrome 1
Gene(s)	PMS2
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for NEB Version 1.0.0

ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for NEB Version 1.0.0
Rule Set:	Rules For NEB
Disease(s)	nemaline myopathy
Gene(s)	NEB
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACTA1 Version 2.0.0

ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACTA1 Version 2.0.0
Rule Set:	Rules For ACTA1
Disease(s)	alpha-actinopathy
Gene(s)	ACTA1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DNM2 Version 1.0.0

ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DNM2 Version 1.0.0
Rule Set:	Rules For DNM2
Disease(s)	centronuclear myopathy
Gene(s)	DNM2
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MTM1 Version 1.0.0

ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MTM1 Version 1.0.0
Rule Set:	Rules For MTM1
Disease(s)	centronuclear myopathy
Gene(s)	MTM1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RYR1 Version 1.0.0

ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RYR1 Version 1.0.0
Rule Set:	Rules For RYR1
Disease(s)	RYR1-related myopathy
Gene(s)	RYR1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACTA1 Version 1.0.0

ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACTA1 Version 1.0.0
Rule Set:	Rules For ACTA1
Disease(s)	alpha-actinopathy
Gene(s)	ACTA1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RYR1 Version 1.0.0

ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RYR1 Version 1.0.0
Rule Set:	Rules For RYR1
Disease(s)	RYR1-related myopathy
Gene(s)	RYR1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF1A Version 2.1.0

ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF1A Version 2.1.0
Rule Set:	Rules For HNF1A
Disease(s)	monogenic diabetes
Gene(s)	HNF1A
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Brain Malformations Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1.0

ClinGen Brain Malformations Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1.0
Rule Set:	Rules For AKT3, MTOR, PIK3CA, PIK3R2
Disease(s)	obsolete cerebral malformation
Gene(s)	AKT3, MTOR, PIK3CA, PIK3R2
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Glaucoma Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1

ClinGen Glaucoma Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1
Rule Set:	Rules For MYOC
Disease(s)	obsolete glaucoma 1, open angle, E, juvenile open angle glaucoma
Gene(s)	MYOC
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ATM Version 1.3.0

ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ATM Version 1.3.0
Rule Set:	Rules For ATM
Disease(s)	hereditary breast carcinoma, ataxia telangiectasia, ataxia - telangiectasia variant
Gene(s)	ATM
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen ACADVL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1

ClinGen ACADVL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Rule Set:	Rules For ACADVL
Disease(s)	very long chain acyl-CoA dehydrogenase deficiency
Gene(s)	ACADVL
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen FBN1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1

ClinGen FBN1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Rule Set:	Rules For FBN1
Disease(s)	Marfan syndrome
Gene(s)	FBN1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for OTOF and MYO15A Version 1

ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for OTOF and MYO15A Version 1
Rule Set:	Rules For MYO15A, OTOF
Disease(s)	nonsyndromic genetic hearing loss
Gene(s)	MYO15A, OTOF
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen DICER1 and miRNA-Processing Gene Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DICER1 Version 1.3.0

ClinGen DICER1 and miRNA-Processing Gene Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DICER1 Version 1.3.0
Rule Set:	Rules For DICER1
Disease(s)	DICER1-related tumor predisposition
Gene(s)	DICER1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GATM Version 1.1.0

ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GATM Version 1.1.0
Rule Set:	Rules For GATM
Disease(s)	AGAT deficiency
Gene(s)	GATM
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GAMT Version 2.0.0

ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GAMT Version 2.0.0
Rule Set:	Rules For GAMT
Disease(s)	guanidinoacetate methyltransferase deficiency
Gene(s)	GAMT
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC6A8 Version 1.1.0

ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC6A8 Version 1.1.0
Rule Set:	Rules For SLC6A8
Disease(s)	creatine transporter deficiency
Gene(s)	SLC6A8
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TCF4 Version 3.0.0

ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TCF4 Version 3.0.0
Rule Set:	Rules For TCF4
Disease(s)	Pitt-Hopkins syndrome
Gene(s)	TCF4
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC9A6 Version 3.0.0

ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC9A6 Version 3.0.0
Rule Set:	Rules For SLC9A6
Disease(s)	Christianson syndrome
Gene(s)	SLC9A6
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDKL5 Version 3.0.0

ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDKL5 Version 3.0.0
Rule Set:	Rules For CDKL5
Disease(s)	CDKL5 disorder
Gene(s)	CDKL5
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for FOXG1 Version 3.0.0

ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for FOXG1 Version 3.0.0
Rule Set:	Rules For FOXG1
Disease(s)	FOXG1 disorder
Gene(s)	FOXG1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MECP2 Version 3.0.0

ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MECP2 Version 3.0.0
Rule Set:	Rules For MECP2
Disease(s)	Rett syndrome
Gene(s)	MECP2
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for UBE3A Version 4.0.0

ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for UBE3A Version 4.0.0
Rule Set:	Rules For UBE3A
Disease(s)	Angelman syndrome
Gene(s)	UBE3A
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SHOC2 Version 2.1.0

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SHOC2 Version 2.1.0
Rule Set:	Rules For SHOC2
Disease(s)	RASopathy
Gene(s)	SHOC2
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for NRAS Version 2.1.0

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for NRAS Version 2.1.0
Rule Set:	Rules For NRAS
Disease(s)	RASopathy
Gene(s)	NRAS
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAF1 Version 2.1.0

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAF1 Version 2.1.0
Rule Set:	Rules For RAF1
Disease(s)	RASopathy
Gene(s)	RAF1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SOS1 Version 2.1.0

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SOS1 Version 2.1.0
Rule Set:	Rules For SOS1
Disease(s)	RASopathy
Gene(s)	SOS1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SOS2 Version 2.1.0

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SOS2 Version 2.1.0
Rule Set:	Rules For SOS2
Disease(s)	RASopathy
Gene(s)	SOS2
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTPN11 Version 2.1.0

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTPN11 Version 2.1.0
Rule Set:	Rules For PTPN11
Disease(s)	RASopathy
Gene(s)	PTPN11
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for KRAS Version 2.1.0

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for KRAS Version 2.1.0
Rule Set:	Rules For KRAS
Disease(s)	RASopathy
Gene(s)	KRAS
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MAP2K1 Version 2.1.0

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MAP2K1 Version 2.1.0
Rule Set:	Rules For MAP2K1
Disease(s)	RASopathy
Gene(s)	MAP2K1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HRAS Version 2.1.0

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HRAS Version 2.1.0
Rule Set:	Rules For HRAS
Disease(s)	RASopathy
Gene(s)	HRAS
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RIT1 Version 2.1.0

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RIT1 Version 2.1.0
Rule Set:	Rules For RIT1
Disease(s)	RASopathy
Gene(s)	RIT1
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MAP2K2 Version 2.1.0

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MAP2K2 Version 2.1.0
Rule Set:	Rules For MAP2K2
Disease(s)	RASopathy
Gene(s)	MAP2K2
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRAF Version 2.1.0

ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRAF Version 2.1.0
Rule Set:	Rules For BRAF
Disease(s)	RASopathy
Gene(s)	BRAF
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN1A Version 1.0.0

ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN1A Version 1.0.0
Rule Set:	Rules For SCN1A
Disease(s)	Dravet syndrome, generalized epilepsy with febrile seizures plus, developmental and epileptic encephalopathy
Gene(s)	SCN1A
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN2A Version 1.0.0

ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN2A Version 1.0.0
Rule Set:	Rules For SCN2A
Disease(s)	complex neurodevelopmental disorder
Gene(s)	SCN2A
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN3A Version 1.0.0

ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN3A Version 1.0.0
Rule Set:	Rules For SCN3A
Disease(s)	developmental and epileptic encephalopathy
Gene(s)	SCN3A
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN8A Version 1.0.0

ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN8A Version 1.0.0
Rule Set:	Rules For SCN8A
Disease(s)	complex neurodevelopmental disorder
Gene(s)	SCN8A
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Coagulation Factor Deficiency Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for F8 Version 1.0.0

ClinGen Coagulation Factor Deficiency Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for F8 Version 1.0.0
Rule Set:	Rules For F8
Disease(s)	hemophilia A
Gene(s)	F8
Genetype	nuclear
Criteria Code	Strength Specification

ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN1B Version 1.0.0

ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN1B Version 1.0.0
Rule Set:	Rules For SCN1B
Disease(s)	generalized epilepsy with febrile seizures plus, developmental and epileptic encephalopathy
Gene(s)	SCN1B
Genetype	nuclear
Criteria Code	Strength Specification