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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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Criteria Specification Registry
Summary of Criteria Codes
ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.2
Disease(s)
hypercholesterolemia, familial, 1
Gene(s)
LDLR
Genetype
nuclear
ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYH7 Version 2.0.0
Disease(s)
dilated cardiomyopathy, hypertrophic cardiomyopathy
Gene(s)
MYH7
Genetype
nuclear
ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTEN Version 3.1.0
Disease(s)
NA
Gene(s)
PTEN
Genetype
nuclear
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
Disease(s)
Usher syndrome, nonsyndromic genetic hearing loss, Pendred syndrome
Gene(s)
CDH23, COCH, GJB2, KCNQ4, MYO6, MYO7A, SLC26A4, TECTA, USH2A
Genetype
nuclear
ClinGen Phenylketonuria Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PAH Version 2.0.0
Disease(s)
phenylketonuria
Gene(s)
PAH
Genetype
nuclear
ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 3.1
Disease(s)
hereditary diffuse gastric adenocarcinoma
Gene(s)
CDH1
Genetype
nuclear
ClinGen Myeloid Malignancy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
Disease(s)
hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Gene(s)
RUNX1
Genetype
nuclear
ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TP53 Version 2.3.0
Disease(s)
Li-Fraumeni syndrome
Gene(s)
TP53
Genetype
nuclear
ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
Disease(s)
glycogen storage disease II
Gene(s)
GAA
Genetype
nuclear
ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2.1
Disease(s)
Glanzmann thrombasthenia
Gene(s)
ITGA2B, ITGB3
Genetype
nuclear
ClinGen Malignant Hyperthermia Susceptibility Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RYR1 Version 2
Disease(s)
malignant hyperthermia of anesthesia
Gene(s)
RYR1
Genetype
nuclear
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_ntDNA
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
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1_mtDNA
Disease(s)
NA
Gene(s)
NA
Genetype
mitochondrial
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PALB2 Version 1.1.0
Disease(s)
hereditary breast carcinoma, familial pancreatic carcinoma, Fanconi anemia complementation group N
Gene(s)
PALB2
Genetype
nuclear
ClinGen VHL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VHL Version 1.1.0
Disease(s)
von Hippel-Lindau disease
Gene(s)
VHL
Genetype
nuclear
ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GP1BA Version 1.0.0
Disease(s)
Bernard-Soulier syndrome
Gene(s)
GP1BA
Genetype
nuclear
ClinGen Coagulation Factor Deficiency Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for F9 Version 1.0.0
Disease(s)
hemophilia B
Gene(s)
F9
Genetype
nuclear
ClinGen von Willebrand Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VWF Version 1.0.0
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
ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GP1BB Version 1.0.0
Disease(s)
Bernard-Soulier syndrome
Gene(s)
GP1BB
Genetype
nuclear
ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GP9 Version 1.0.0
Disease(s)
Bernard-Soulier syndrome
Gene(s)
GP9
Genetype
nuclear
ClinGen Thrombosis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SERPINC1 Version 1.1.0
Disease(s)
hereditary antithrombin deficiency
Gene(s)
SERPINC1
Genetype
nuclear
ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF4A Version 2.0.0
Disease(s)
monogenic diabetes
Gene(s)
HNF4A
Genetype
nuclear
ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GCK Version 2.0.0
Disease(s)
monogenic diabetes
Gene(s)
GCK
Genetype
nuclear
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MRAS Version 1.4.0
Disease(s)
RASopathy
Gene(s)
MRAS
Genetype
nuclear
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for APC Version 2.1.0
Disease(s)
familial adenomatous polyposis 1
Gene(s)
APC
Genetype
nuclear
ClinGen von Willebrand Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for VWF Version 1.0.0
Disease(s)
von Willebrand disease type 2N
Gene(s)
VWF
Genetype
nuclear
ClinGen Lysosomal Diseases Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for IDUA Version 1.0.0
Disease(s)
mucopolysaccharidosis type 1
Gene(s)
IDUA
Genetype
nuclear
ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA1 Version 1.2.0
Disease(s)
BRCA1-related cancer predisposition
Gene(s)
BRCA1
Genetype
nuclear
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for LZTR1 Version 1.3.0
Disease(s)
RASopathy
Gene(s)
LZTR1
Genetype
nuclear
ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYBPC3 Version 1.0.0
Disease(s)
hypertrophic cardiomyopathy
Gene(s)
MYBPC3
Genetype
nuclear
ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA2 Version 1.2.0
Disease(s)
BRCA2-related cancer predisposition
Gene(s)
BRCA2
Genetype
nuclear
ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TNNI3 Version 1.0.0
Disease(s)
hypertrophic cardiomyopathy
Gene(s)
TNNI3
Genetype
nuclear
ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TNNT2 Version 1.0.0
Disease(s)
hypertrophic cardiomyopathy, dilated cardiomyopathy
Gene(s)
TNNT2
Genetype
nuclear
ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TPM1 Version 1.0.0
Disease(s)
hypertrophic cardiomyopathy
Gene(s)
TPM1
Genetype
nuclear
ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACTC1 Version 1.0.0
Disease(s)
hypertrophic cardiomyopathy
Gene(s)
ACTC1
Genetype
nuclear
ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYL2 Version 1.0.0
Disease(s)
hypertrophic cardiomyopathy
Gene(s)
MYL2
Genetype
nuclear
ClinGen Cardiomyopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYL3 Version 1.0.0
Disease(s)
hypertrophic cardiomyopathy
Gene(s)
MYL3
Genetype
nuclear
ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for FOXN1 Version 1.0.0
Disease(s)
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Gene(s)
FOXN1
Genetype
nuclear
ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ADA Version 1.0.0
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
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MLH1 Version 1.0.0
Disease(s)
Lynch syndrome 2, mismatch repair cancer syndrome 1
Gene(s)
MLH1
Genetype
nuclear
ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DCLRE1C Version 1.0.0
Disease(s)
severe combined immunodeficiency due to DCLRE1C deficiency
Gene(s)
DCLRE1C
Genetype
nuclear
ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for IL7R Version 1.0.0
Disease(s)
immunodeficiency 104
Gene(s)
IL7R
Genetype
nuclear
ClinGen Leber Congenital Amaurosis/early onset Retinal Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RPE65 Version 1.0.0
Disease(s)
RPE65-related recessive retinopathy
Gene(s)
RPE65
Genetype
nuclear
ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for JAK3 Version 1.0.0
Disease(s)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Gene(s)
JAK3
Genetype
nuclear
ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAG1 Version 1.0.0
Disease(s)
recombinase activating gene 1 deficiency
Gene(s)
RAG1
Genetype
nuclear
ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAG2 Version 1.0.0
Disease(s)
recombinase activating gene 2 deficiency
Gene(s)
RAG2
Genetype
nuclear
ClinGen Pulmonary Hypertension Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BMPR2 Version 1.1.0
Disease(s)
pulmonary arterial hypertension
Gene(s)
BMPR2
Genetype
nuclear
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RRAS2 Version 1.3.0
Disease(s)
RASopathy
Gene(s)
RRAS2
Genetype
nuclear
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PPP1CB Version 1.3.0
Disease(s)
RASopathy
Gene(s)
PPP1CB
Genetype
nuclear
ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for IL2RG Version 1.0.0
Disease(s)
T-B+ severe combined immunodeficiency due to gamma chain deficiency
Gene(s)
IL2RG
Genetype
nuclear
ClinGen Hereditary Hemorrhagic Telangiectasia Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACVRL1 Version 1.1.0
Disease(s)
telangiectasia, hereditary hemorrhagic, type 2
Gene(s)
ACVRL1
Genetype
nuclear
ClinGen Hereditary Hemorrhagic Telangiectasia Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ENG Version 1.1.0
Disease(s)
telangiectasia, hereditary hemorrhagic, type 1
Gene(s)
ENG
Genetype
nuclear
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MSH2 Version 1.0.0
Disease(s)
Lynch syndrome 1, mismatch repair cancer syndrome 1
Gene(s)
MSH2
Genetype
nuclear
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MSH6 Version 1.0.0
Disease(s)
Lynch syndrome, mismatch repair cancer syndrome 1
Gene(s)
MSH6
Genetype
nuclear
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PMS2 Version 1.0.0
Disease(s)
Lynch syndrome 4, mismatch repair cancer syndrome 1
Gene(s)
PMS2
Genetype
nuclear
ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for NEB Version 1.0.0
Disease(s)
nemaline myopathy
Gene(s)
NEB
Genetype
nuclear
ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACTA1 Version 2.0.0
Disease(s)
alpha-actinopathy
Gene(s)
ACTA1
Genetype
nuclear
ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DNM2 Version 1.0.0
Disease(s)
centronuclear myopathy
Gene(s)
DNM2
Genetype
nuclear
ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MTM1 Version 1.0.0
Disease(s)
centronuclear myopathy
Gene(s)
MTM1
Genetype
nuclear
ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RYR1 Version 2.0.0
Disease(s)
RYR1-related myopathy
Gene(s)
RYR1
Genetype
nuclear
ClinGen Leber Congenital Amaurosis/early onset Retinal Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GUCY2D Version 1.0.0
Disease(s)
GUCY2D-related recessive retinopathy
Gene(s)
GUCY2D
Genetype
nuclear
ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACTA1 Version 1.0.0
Disease(s)
alpha-actinopathy
Gene(s)
ACTA1
Genetype
nuclear
ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RYR1 Version 2.0.0
Disease(s)
RYR1-related myopathy
Gene(s)
RYR1
Genetype
nuclear
ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DYSF Version 1.0.0
Disease(s)
autosomal recessive limb-girdle muscular dystrophy
Gene(s)
DYSF
Genetype
nuclear
ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SGCB Version 1.0.0
Disease(s)
autosomal recessive limb-girdle muscular dystrophy
Gene(s)
SGCB
Genetype
nuclear
ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SGCG Version 1.0.0
Disease(s)
autosomal recessive limb-girdle muscular dystrophy
Gene(s)
SGCG
Genetype
nuclear
ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SGCD Version 1.0.0
Disease(s)
autosomal recessive limb-girdle muscular dystrophy
Gene(s)
SGCD
Genetype
nuclear
ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CAPN3 Version 1.0.0
Disease(s)
autosomal recessive limb-girdle muscular dystrophy
Gene(s)
CAPN3
Genetype
nuclear
ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ANO5 Version 1.0.0
Disease(s)
autosomal recessive limb-girdle muscular dystrophy
Gene(s)
ANO5
Genetype
nuclear
ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SGCA Version 1.0.0
Disease(s)
autosomal recessive limb-girdle muscular dystrophy
Gene(s)
SGCA
Genetype
nuclear
ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF1A Version 2.1.0
Disease(s)
monogenic diabetes
Gene(s)
HNF1A
Genetype
nuclear
ClinGen Brain Malformations Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1.0
Disease(s)
obsolete cerebral malformation
Gene(s)
AKT3, MTOR, PIK3CA, PIK3R2
Genetype
nuclear
ClinGen Glaucoma Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MYOC Version 2.0.0
Disease(s)
open-angle glaucoma
Gene(s)
MYOC
Genetype
nuclear
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ATM Version 1.3.0
Disease(s)
hereditary breast carcinoma, ataxia telangiectasia, ataxia - telangiectasia variant
Gene(s)
ATM
Genetype
nuclear
ClinGen ACADVL Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ACADVL Version 2.0.0
Disease(s)
very long chain acyl-CoA dehydrogenase deficiency
Gene(s)
ACADVL
Genetype
nuclear
ClinGen FBN1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Disease(s)
Marfan syndrome
Gene(s)
FBN1
Genetype
nuclear
ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for OTOF and MYO15A Version 1
Disease(s)
nonsyndromic genetic hearing loss
Gene(s)
MYO15A, OTOF
Genetype
nuclear
ClinGen DICER1 and miRNA-Processing Gene Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DICER1 Version 1.3.0
Disease(s)
DICER1-related tumor predisposition
Gene(s)
DICER1
Genetype
nuclear
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GATM Version 2.0.0
Disease(s)
AGAT deficiency
Gene(s)
GATM
Genetype
nuclear
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GAMT Version 2.0.0
Disease(s)
guanidinoacetate methyltransferase deficiency
Gene(s)
GAMT
Genetype
nuclear
ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC6A8 Version 1.2.0
Disease(s)
creatine transporter deficiency
Gene(s)
SLC6A8
Genetype
nuclear
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TCF4 Version 4.0.0
Disease(s)
Pitt-Hopkins syndrome
Gene(s)
TCF4
Genetype
nuclear
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC9A6 Version 4.0.0
Disease(s)
Christianson syndrome
Gene(s)
SLC9A6
Genetype
nuclear
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDKL5 Version 4.1.0
Disease(s)
CDKL5 disorder
Gene(s)
CDKL5
Genetype
nuclear
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for FOXG1 Version 4.1.0
Disease(s)
FOXG1 disorder
Gene(s)
FOXG1
Genetype
nuclear
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MECP2 Version 4.1.0
Disease(s)
Rett syndrome
Gene(s)
MECP2
Genetype
nuclear
ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for UBE3A Version 5.0.0
Disease(s)
Angelman syndrome
Gene(s)
UBE3A
Genetype
nuclear
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SHOC2 Version 2.3.0
Disease(s)
RASopathy
Gene(s)
SHOC2
Genetype
nuclear
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for NRAS Version 2.3.0
Disease(s)
RASopathy
Gene(s)
NRAS
Genetype
nuclear
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAF1 Version 2.3.0
Disease(s)
RASopathy
Gene(s)
RAF1
Genetype
nuclear
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SOS1 Version 2.3.0
Disease(s)
RASopathy
Gene(s)
SOS1
Genetype
nuclear
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SOS2 Version 2.3.0
Disease(s)
RASopathy
Gene(s)
SOS2
Genetype
nuclear
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PTPN11 Version 2.3.0
Disease(s)
RASopathy
Gene(s)
PTPN11
Genetype
nuclear
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for KRAS Version 2.3.0
Disease(s)
RASopathy
Gene(s)
KRAS
Genetype
nuclear
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MAP2K1 Version 2.3.0
Disease(s)
RASopathy
Gene(s)
MAP2K1
Genetype
nuclear
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HRAS Version 2.3.0
Disease(s)
RASopathy
Gene(s)
HRAS
Genetype
nuclear
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RIT1 Version 2.3.0
Disease(s)
RASopathy
Gene(s)
RIT1
Genetype
nuclear
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MAP2K2 Version 2.3.0
Disease(s)
RASopathy
Gene(s)
MAP2K2
Genetype
nuclear
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRAF Version 2.3.0
Disease(s)
RASopathy
Gene(s)
BRAF
Genetype
nuclear
ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN1A Version 2.0.0
Disease(s)
Dravet syndrome, generalized epilepsy with febrile seizures plus, developmental and epileptic encephalopathy
Gene(s)
SCN1A
Genetype
nuclear
ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN2A Version 2.0.0
Disease(s)
complex neurodevelopmental disorder
Gene(s)
SCN2A
Genetype
nuclear
ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN3A Version 2.1.0
Disease(s)
developmental and epileptic encephalopathy
Gene(s)
SCN3A
Genetype
nuclear
ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN8A Version 2.0.0
Disease(s)
complex neurodevelopmental disorder
Gene(s)
SCN8A
Genetype
nuclear
ClinGen Coagulation Factor Deficiency Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for F8 Version 1.0.0
Disease(s)
hemophilia A
Gene(s)
F8
Genetype
nuclear
ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN1B Version 2.0.0
Disease(s)
generalized epilepsy with febrile seizures plus, developmental and epileptic encephalopathy
Gene(s)
SCN1B
Genetype
nuclear
