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Institute of Human Genetics (University of Goettingen), IfHG

General information

Institute of Human Genetics, IfHG
University of Goettingen
Goettingen
Niedersachsen
Germany - 37073
http://www.humangenetik-umg.de
Organization ID: 19886

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 656

Gene

GeneSubmissionsLast Updated
ABCA41Jul 3, 2023
ABCC81Mar 13, 2021
ABCD11Sep 18, 2020
ABHD121May 20, 2022
ACADVL1Jun 15, 2020
ACAN1Feb 22, 2021
ACO24Mar 26, 2024
ACOX11Mar 20, 2024
ACTB2May 20, 2022
ACTG11Aug 26, 2021
ACVRL11Jun 28, 2018
ADAM91Oct 5, 2022
ADGRV11Sep 6, 2023
AGL1Mar 9, 2021
AGO21Aug 25, 2023
AHDC11Feb 11, 2022
AMER11Jun 9, 2022
ANK21Mar 22, 2019
ANKRD111May 6, 2024
ANXA111Sep 23, 2022
AP2M11Sep 22, 2021
AP4M12Jul 21, 2022
APC2Sep 22, 2020
APOB1Jul 26, 2022
APP1Oct 13, 2021
ARFGEF11Dec 21, 2022
ARFGEF31Sep 15, 2022
ARID1B6Sep 28, 2023
ARL32May 30, 2024
ASXL31Nov 24, 2022
ATAD3A1Dec 18, 2020
ATIC1Sep 9, 2022
ATM5Sep 2, 2022
ATP11A1Mar 27, 2024
ATP13A21Feb 4, 2022
ATP1A11Feb 1, 2021
ATP1A1-AS11Feb 1, 2021
ATP1A22Feb 9, 2024
ATP2B11Dec 2, 2022
ATP6V1A2Sep 22, 2021
ATRX1Oct 20, 2020
B3GLCT1Sep 8, 2021
BAG31Aug 8, 2017
BARD11Jan 6, 2021
BBS71Jul 17, 2023
BCAS31Dec 11, 2020
BCKDK1Jun 7, 2023
BCL11A2Aug 1, 2023
BCORL12May 10, 2024
BDNF1Oct 21, 2020
BDNF-AS1Oct 21, 2020
BDNF-AS11Oct 21, 2020
BEST11Apr 19, 2023
BLM1Nov 8, 2019
BRAF1Jun 25, 2020
BRCA23Feb 24, 2023
BRSK21Oct 7, 2020
C11orf652Sep 2, 2022
C1QTNF51May 27, 2022
C1R1Apr 21, 2023
CACNA1A1Sep 2, 2022
CACNA1C2Aug 2, 2022
CACNA1D1Jun 14, 2022
CACNA1G1Jun 8, 2023
CAMK2A1Jun 30, 2023
CASK1May 15, 2018
CASQ11Oct 2, 2020
CBL3May 20, 2022
CDH231Sep 22, 2020
CDK101Oct 13, 2021
CELF21Aug 23, 2023
CELF2-AS11Aug 23, 2023
CENPJ1Feb 22, 2017
CERT11Sep 26, 2022
CHD11Mar 6, 2023
CHD21May 20, 2022
CHD32Jan 23, 2023
CHD41Sep 6, 2023
CHD51Mar 5, 2024
CHD76Oct 13, 2021
CHD83Jul 1, 2024
CHEK21Jul 19, 2021
CHM4Sep 1, 2022
CLCN41May 23, 2022
CLTC1Mar 26, 2024
CNOT11Jul 1, 2021
CNTNAP51Oct 5, 2020
COG41May 14, 2021
COL11A15Mar 19, 2024
COL1A14Feb 6, 2024
COL2A12Mar 30, 2023
COL3A12Jan 17, 2024
COL4A11May 28, 2024
COL6A11Oct 21, 2020
COL6A32Sep 6, 2023
COL9A11Feb 13, 2023
COLQ1Mar 26, 2024
COMP1Jul 30, 2021
COQ21Mar 26, 2024
CPT1C2Sep 10, 2021
CREBBP1Feb 18, 2021
CRX2Mar 26, 2024
CRYBB21Aug 27, 2021
CSF1R1Mar 8, 2023
CTNNA31Sep 19, 2022
CTNNB11Nov 3, 2022
CUL31Mar 22, 2023
CUL4B1Mar 22, 2022
CUX22Apr 27, 2023
CYLD1Nov 30, 2022
CYLD-AS21Nov 30, 2022
CYP7B11Jun 13, 2022
DCTN12Jun 4, 2021
DDX61May 20, 2022
DHX301Jan 3, 2022
DIAPH31May 6, 2024
DIAPH3-AS11May 6, 2024
DLG21Oct 10, 2018
DLGAP11Apr 4, 2019
DLL11Apr 28, 2023
DNMT3A1Aug 3, 2018
DONSON3Jul 7, 2021
DPAGT11May 7, 2021
DSPP1Apr 8, 2020
DYNC1H13Sep 5, 2022
DYRK1A1Apr 5, 2023
EDAR1Mar 3, 2021
EHMT11Jul 3, 2023
EIF2AK21Sep 26, 2022
EIF3F1Dec 14, 2020
EIF4G11Sep 9, 2022
ELOVL51Nov 12, 2020
ENG3Mar 1, 2022
EPHB41Jul 7, 2022
ERBB41Dec 11, 2020
ERC11Apr 4, 2019
EXOSC82Jun 9, 2022
EXT11Jan 11, 2024
EZH21Jul 18, 2017
FA2H2May 20, 2022
FARSA2Dec 13, 2022
FAT41Sep 2, 2022
FBLN51Jun 18, 2021
FBN13Mar 27, 2024
FBXO112Jan 23, 2023
FBXW111Dec 10, 2020
FGB1Dec 25, 2020
FGD42Jan 23, 2023
FGFR31May 20, 2022
FLNA3Aug 18, 2023
FLNC1Mar 18, 2024
FLT41Mar 27, 2024
FN11Sep 9, 2022
FOXL21Mar 27, 2024
FOXP12Apr 12, 2023
FRMD51Feb 16, 2023
GAA1Aug 25, 2023
GABRA11Apr 13, 2019
GABRB22May 30, 2024
GATA31Jul 3, 2023
GBE12Mar 11, 2022
GCK1Oct 21, 2020
GDF111Aug 22, 2022
GFAP1Apr 15, 2021
GJB11Mar 5, 2021
GJB31Oct 29, 2019
GJB41Jul 3, 2023
GLI31Jun 21, 2022
GLRA11Sep 19, 2022
GMDS2Dec 11, 2020
GNAL1Feb 14, 2024
GNAO11Sep 19, 2022
GNAS1Mar 26, 2024
GNPTAB1Feb 27, 2024
GPHN2Jan 14, 2022
GRID21Dec 11, 2020
GRIN11Jul 19, 2022
GRIN2A1Sep 26, 2022
GRIN2B2Jul 9, 2024
H1-41Mar 27, 2024
H3-3B1Jan 31, 2023
HCCS1Jul 22, 2023
HCFC11Mar 26, 2024
HCN11Sep 22, 2023
HDAC83Jan 13, 2022
HEPACAM1Aug 18, 2017
HERC21Sep 8, 2021
HGSNAT1Sep 22, 2020
HNRNPK2Sep 8, 2021
HNRNPK-AS11Jan 13, 2020
HPRT11Apr 16, 2024
HUWE11Mar 26, 2024
IFT741May 25, 2022
IGF1R2Jan 26, 2022
IMPG11Jan 11, 2023
INF21Jun 29, 2023
INPP5K2Nov 18, 2022
IRAK1BP11Mar 8, 2023
ITPR12Jul 26, 2022
ITSN11Mar 27, 2024
KANSL11Oct 7, 2020
KAT6A1May 20, 2022
KAT6B1Oct 10, 2023
KBTBD131Jun 15, 2020
KCNA11Aug 31, 2023
KCNA51Feb 26, 2021
KCNE21May 23, 2022
KCNH22Jan 4, 2022
KCNJ61Sep 8, 2021
KCNJ6-AS11Sep 8, 2021
KCNN31Dec 21, 2022
KCNQ11Feb 16, 2023
KCNQ1-AS11Feb 16, 2023
KCNQ21May 13, 2022
KCNQ31Aug 15, 2023
KCNQ53Mar 26, 2024
KCNV21Mar 13, 2021
KDM3B2May 29, 2024
KDM4B2May 3, 2023
KDM5B1May 3, 2023
KDM5C1Oct 8, 2020
KDM6B1Jan 15, 2024
KIDINS2201Jan 23, 2023
KIF111Mar 9, 2022
KIF141Sep 22, 2020
KIF16B1Jul 30, 2021
KIF1A1Jun 4, 2021
KIF221Apr 13, 2023
KIF5A2Mar 18, 2022
KLHL72Sep 8, 2021
KMT2A1Jun 3, 2022
KMT2B1Dec 7, 2023
KMT2C1Mar 15, 2021
KMT2D9Oct 12, 2022
KMT2E1Oct 27, 2021
KMT5B1Jan 23, 2023
KREMEN11Feb 1, 2024
L1CAM1May 19, 2022
LAMA21Sep 6, 2019
LINGO11Sep 16, 2022
LMNA1Nov 1, 2021
LMX1A1Nov 10, 2022
LMX1B1May 19, 2023
LOC1053727911May 23, 2022
LOC1053783111Nov 7, 2022
LOC1079880321Aug 18, 2023
LOC1128409211Oct 29, 2020
LOC1268057931Jul 3, 2023
LOC1268064231Jan 18, 2023
LOC1268064621May 29, 2024
LOC1268065731Sep 6, 2023
LOC1268599131Apr 28, 2023
LOC1268613601May 7, 2021
LOC1268628641Sep 2, 2022
LOC1268631881Feb 18, 2021
LOC1278142971Oct 6, 2021
LOC1293913061Jun 10, 2022
LOC1300593941May 20, 2022
LOC1300598921Mar 7, 2022
LOC1300656801Nov 12, 2020
LOC1300682811Feb 9, 2022
LRP41Jan 25, 2024
LRP52Jan 26, 2022
LRSAM11Jan 5, 2023
LZTR11Jan 31, 2024
MACF11Jul 29, 2021
MAP1B3May 19, 2023
MAP2K22Jun 28, 2018
MAPK101Jan 13, 2017
MBD51Apr 30, 2020
MC4R1Oct 29, 2021
MED131Jan 15, 2021
MET1May 5, 2023
MFN21Apr 1, 2021
MFRP1May 27, 2022
MFSD81Jan 23, 2023
MIP1Jul 13, 2022
MLH11Jul 18, 2022
MN11Mar 26, 2024
MSC-AS11Jul 11, 2023
MSH23Feb 3, 2022
MSH61Mar 15, 2018
MTOR2Aug 24, 2023
MTR1Mar 27, 2024
MUTYH1Sep 2, 2022
MYBPC31May 4, 2017
MYH141Mar 5, 2021
MYH21Sep 22, 2020
MYH61May 20, 2022
MYH7B1Feb 2, 2022
MYH91Oct 8, 2020
MYHAS1Sep 22, 2020
MYLK1Nov 1, 2022
MYO7A2May 30, 2024
MYOD11Aug 27, 2021
MYT1L1Sep 1, 2020
NAA102May 20, 2022
NALCN1Jun 22, 2022
NBEA1Jun 30, 2023
NCAPG21Sep 9, 2022
NCL1Jun 5, 2023
NEB1Dec 9, 2020
NEFH1Jan 13, 2020
NEFL1Mar 8, 2021
NEO11Jul 19, 2019
NEUROD21Jan 17, 2024
NEXMIF1Oct 9, 2020
NF14May 30, 2024
NFIA1Dec 23, 2019
NIPA11Jun 2, 2022
NIPBL1Jan 13, 2020
NKX2-12Mar 21, 2022
NLGN4X1Jul 23, 2021
NOTCH31Jul 3, 2023
NPR21May 20, 2022
NR2F12Feb 8, 2024
NR2F1-AS11Feb 8, 2024
NR5A11Jan 3, 2023
NSD17Dec 5, 2022
OBI1-AS11Mar 26, 2024
OFD11Sep 12, 2018
OPA11Jan 23, 2024
OPN1LW1Dec 15, 2023
OTOA1Jul 1, 2024
OTOF1Oct 29, 2020
P2RX21Jan 18, 2023
PALS11Jan 14, 2022
PAX61Apr 15, 2019
PCDH151Nov 7, 2022
PDE11A1May 17, 2023
PDE11A-AS11May 17, 2023
PDE6A1Sep 5, 2023
PDGFRB1Jun 18, 2024
PDK31Jul 5, 2022
PEX61Apr 9, 2019
PEX71Feb 9, 2021
PHF21A1Jul 12, 2024
PHIP1Mar 8, 2023
PIGV1Aug 12, 2021
PKD21Jun 21, 2021
PKP21Dec 28, 2021
PLCG21Apr 18, 2024
PMP221Aug 18, 2017
PMS21Jun 28, 2024
PNPT11Jan 22, 2024
POGZ3Apr 25, 2024
POLE2Jun 3, 2022
POLG1Mar 5, 2021
POLGARF1Mar 5, 2021
POLK1Sep 26, 2022
POLR3H2Jan 16, 2024
POLRMT1Mar 27, 2024
POU3F41May 25, 2022
POU4F11Mar 26, 2024
POU4F31Oct 6, 2021
PPP2R1A1Jan 23, 2023
PQBP11Mar 3, 2021
PRKCG1Sep 23, 2020
PRKD11Jun 9, 2022
PRPF31Dec 14, 2021
PRPF311May 23, 2022
PRX1Aug 23, 2017
PTCH11Mar 26, 2024
PTEN1Jul 26, 2019
PTPRQ1May 11, 2022
PUF601May 20, 2022
PUM11Mar 5, 2021
QRICH11May 14, 2021
RAD501Mar 27, 2024
RANBP21Mar 3, 2021
RBM201Jun 25, 2020
RELA1Apr 12, 2024
RELN1May 15, 2018
RERE1Mar 21, 2023
RFX31May 7, 2021
RHO1Oct 4, 2022
RHOA1Dec 2, 2019
RIF11Dec 9, 2020
RNF171Feb 22, 2017
RNF431Dec 5, 2022
RORA1Jan 18, 2024
RORA-AS11Jan 18, 2024
RP1L11Apr 12, 2022
RP21Jan 5, 2022
RPL101Apr 29, 2022
RYR13Sep 6, 2023
RYR21Nov 1, 2022
SATB21May 29, 2024
SCN11A2Apr 6, 2021
SCN1A2Nov 24, 2022
SCN2A3Jul 12, 2024
SCN5A1Jun 7, 2022
SERPINF12Mar 7, 2022
SETD1A1Jun 28, 2023
SETD21Sep 29, 2020
SETD54Aug 25, 2022
SETX1Jan 5, 2022
SFTA31Dec 2, 2021
SH3TC22Jun 5, 2023
SHANK33Mar 17, 2023
SLC12A21Mar 27, 2024
SLC20A21Apr 22, 2024
SLC2A12Apr 18, 2023
SLC6A81May 24, 2022
SMAD61Jan 12, 2021
SMARCA23May 23, 2024
SMARCC21Mar 27, 2024
SMARCD11Jan 26, 2023
SMC1A1Sep 21, 2020
SMC32Oct 30, 2020
SNTA11Nov 12, 2020
SOS11Dec 30, 2019
SOX21Oct 13, 2021
SOX2-OT1Oct 13, 2021
SPAG81May 20, 2022
SPAST3Jul 3, 2021
SPG73Feb 4, 2022
SPTAN13Nov 14, 2023
SPTBN21Mar 22, 2021
STAG12May 20, 2022
STAG21Dec 3, 2021
SUFU3May 5, 2023
SUPT16H2Oct 7, 2022
SYNE11Jun 15, 2020
SYNE21May 20, 2022
SYP1Feb 9, 2022
SYP-AS11Feb 9, 2022
TAFAZZIN1Aug 16, 2023
TASP11Aug 24, 2021
TBCEL-TECTA2Jul 1, 2024
TBCK1Aug 8, 2023
TBR12Jan 23, 2023
TCF41Oct 29, 2020
TECTA2Jul 1, 2024
TFAP2A1Oct 29, 2020
TGFB21Mar 19, 2024
TGM62May 27, 2022
TMEM126A1Jun 24, 2022
TMPRSS31May 30, 2024
TNRC6B2Mar 26, 2024
TNXB1Aug 31, 2022
TOGARAM11Sep 5, 2022
TP631Jul 14, 2021
TPM12Jan 7, 2021
TRAPPC91Oct 10, 2018
TRIO2Mar 26, 2024
TRPA11Jul 11, 2023
TRPM41Aug 8, 2017
TRPS12Feb 1, 2024
TRRAP3Jul 1, 2024
TSC11Nov 9, 2022
TSC21Nov 25, 2022
TSEN541Jul 26, 2019
TTN1Jan 18, 2023
TTN-AS11Jan 18, 2023
TUBA1A2Sep 30, 2020
TUBB31Mar 1, 2023
TUBB4A1Oct 13, 2022
TWNK1Oct 21, 2020
TYR1Jan 29, 2021
UPF3B1Jun 15, 2020
USH2A4Jan 23, 2023
USH2A-AS11Mar 9, 2022
USP27X1Jan 11, 2024
USP481Apr 12, 2023
USP9X1Sep 5, 2022
VPS13D2Feb 10, 2021
WDFY31Oct 6, 2021
WDR451Dec 27, 2019
WDR621May 15, 2018
ZBTB201Feb 4, 2022
ZFYVE261Jul 7, 2020
ZMIZ11Jan 20, 2022
ZMYM31Sep 19, 2022
ZNF4231Oct 29, 2020
ZSWIM61Jul 13, 2022

Condition

NameSubmissionsLast Updated
11p partial monosomy syndrome1Apr 15, 2019
3-Methylglutaconic aciduria type 21Aug 16, 2023
8q24.3 microdeletion syndrome1May 20, 2022
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1Feb 11, 2022
Abnormal brain morphology1Jul 26, 2019
Abnormal facial shape1Apr 4, 2019
Abnormality of the outer ear1Oct 3, 2021
Acroosteolysis-keloid-like lesions-premature aging syndrome1Jun 18, 2024
Acyl-CoA oxidase deficiency1Mar 20, 2024
Adrenoleukodystrophy1Sep 18, 2020
Al Kaissi syndrome1Oct 13, 2021
Aldosterone-producing adenoma with seizures and neurological abnormalities1Jun 14, 2022
Alexander disease1Apr 15, 2021
Alternating hemiplegia of childhood 11Feb 14, 2023
Amyotrophic lateral sclerosis type 231Sep 23, 2022
Amyotrophic lateral sclerosis type 41Jan 5, 2022
Anophthalmia3Jul 19, 2019
Anophthalmia/microphthalmia-esophageal atresia syndrome1Oct 13, 2021
Aortic aneurysm, familial thoracic 71Nov 1, 2022
Aortic valve disease 21Jan 12, 2021
Aortic valve stenosis1Apr 30, 2020
Arrhythmogenic right ventricular dysplasia 21Nov 1, 2022
Arrhythmogenic right ventricular dysplasia 91Dec 28, 2021
Ataxia, intention tremor, and hypotonia syndrome, childhood-onset1Mar 26, 2024
Ataxia-telangiectasia syndrome1Sep 2, 2022
Atrial fibrillation, familial, 71Feb 26, 2021
Attention deficit hyperactivity disorder1May 7, 2021
Atypical Rett syndrome1Jan 14, 2022
Au-Kline syndrome2Sep 8, 2021
Autism2Mar 27, 2024
Autism, susceptibility to, 52Jan 23, 2023
Autism, susceptibility to, X-linked 21Jul 23, 2021
Autistic behavior1Jul 19, 2019
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation1Apr 18, 2024
Autosomal dominant auditory neuropathy 11May 6, 2024
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1Dec 9, 2020
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1May 20, 2022
Autosomal dominant nonsyndromic hearing loss 122Jul 1, 2024
Autosomal dominant nonsyndromic hearing loss 151Oct 6, 2021
Autosomal dominant nonsyndromic hearing loss 171Oct 8, 2020
Autosomal dominant nonsyndromic hearing loss 201Aug 26, 2021
Autosomal dominant nonsyndromic hearing loss 411Jan 18, 2023
Autosomal dominant nonsyndromic hearing loss 4A1Mar 5, 2021
Autosomal dominant nonsyndromic hearing loss 71Nov 10, 2022
Autosomal dominant optic atrophy classic form1Jan 23, 2024
Autosomal recessive ataxia, Beauce type1Jun 15, 2020
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome2Feb 10, 2021
Autosomal recessive nonsyndromic hearing loss 121Sep 22, 2020
Autosomal recessive nonsyndromic hearing loss 1A1Oct 29, 2019
Autosomal recessive nonsyndromic hearing loss 221Jul 1, 2024
Autosomal recessive nonsyndromic hearing loss 231Nov 7, 2022
Autosomal recessive nonsyndromic hearing loss 81May 30, 2024
Autosomal recessive nonsyndromic hearing loss 91Oct 29, 2020
Autosomal recessive optic atrophy, OPA7 type1Jun 24, 2022
Avascular necrosis of femoral head, primary, 11Mar 30, 2023
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 201Oct 29, 2021
Baraitser-Winter syndrome 11May 20, 2022
Bardet-Biedl syndrome 71Jul 17, 2023
Basal cell nevus syndrome 11Mar 26, 2024
Basal cell nevus syndrome 21May 5, 2023
Bethlem myopathy 1A3Sep 6, 2023
Blepharophimosis1Apr 4, 2019
Bloom syndrome1Nov 8, 2019
Bone mineral density quantitative trait locus 12Jan 26, 2022
Bosch-Boonstra-Schaaf optic atrophy syndrome2Feb 8, 2024
Brain abnormalities, neurodegeneration, and dysosteosclerosis1Mar 8, 2023
Brain-lung-thyroid syndrome2Mar 21, 2022
Branchiooculofacial syndrome1Oct 29, 2020
Breast-ovarian cancer, familial, susceptibility to, 22Feb 24, 2023
Brooke-Spiegler syndrome1Nov 30, 2022
Brugada syndrome 31Dec 18, 2020
Bryant-Li-Bhoj neurodevelopmental syndrome 21Jan 31, 2023
CBL-related disorder3May 20, 2022
CEBALID syndrome1Mar 26, 2024
CHARGE syndrome6Oct 13, 2021
CNTNAP5-associated intellectual disability1Oct 5, 2020
Capillary malformation-arteriovenous malformation 21Jul 7, 2022
Cardiac arrhythmia, ankyrin-B-related1Mar 22, 2019
Cardiac valvular dysplasia, X-linked1Aug 27, 2021
Cardiofaciocutaneous syndrome 11Jun 25, 2020
Cardiofaciocutaneous syndrome 42Jun 28, 2018
Carpal tunnel syndrome 21Jul 30, 2021
Cataract 15 multiple types1Jul 13, 2022
Cataract 3 multiple types1Aug 27, 2021
Cenani-Lenz syndactyly syndrome1Jan 25, 2024
Central core myopathy3Sep 6, 2023
Cerebellar ataxia2Jun 30, 2020
Cerebral amyloid angiopathy, APP-related1Oct 13, 2021
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11Jul 3, 2023
Charcot-Marie-Tooth disease X-linked dominant 11Mar 5, 2021
Charcot-Marie-Tooth disease X-linked dominant 61Jul 5, 2022
Charcot-Marie-Tooth disease axonal type 2C1Jan 13, 2020
Charcot-Marie-Tooth disease axonal type 2O2Dec 9, 2020
Charcot-Marie-Tooth disease axonal type 2P1Jan 5, 2023
Charcot-Marie-Tooth disease dominant intermediate E1Jun 29, 2023
Charcot-Marie-Tooth disease type 1E1Aug 18, 2017
Charcot-Marie-Tooth disease type 2A21Apr 1, 2021
Charcot-Marie-Tooth disease type 4C2Jun 5, 2023
Charcot-Marie-Tooth disease type 4H2Jan 23, 2023
Charcot-Marie-Tooth disease, dominant intermediate G1Mar 8, 2021
Charcot-marie-tooth disease, axonal, type 2DD1Feb 1, 2021
Choroideremia4Sep 1, 2022
Chromosome 1p32-p31 deletion syndrome1Dec 23, 2019
Chromosome 2q32-q33 deletion syndrome1May 29, 2024
Coenzyme Q10 deficiency, primary, 11Mar 26, 2024
Coffin-Siris syndrome 16Sep 28, 2023
Coffin-Siris syndrome 111Jan 26, 2023
Coffin-Siris syndrome 81Mar 27, 2024
Cognitive impairment1Jul 19, 2019
Colorectal cancer, hereditary nonpolyposis, type 21Jul 18, 2022
Colorectal cancer, susceptibility to, 122Jun 3, 2022
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11Jan 24, 2023
Combined oxidative phosphorylation defect type 131Jan 22, 2024
Combined oxidative phosphorylation deficiency 551Mar 27, 2024
Complex cortical dysplasia with other brain malformations 11Mar 1, 2023
Cone dystrophy with supernormal rod response1Mar 13, 2021
Cone-rod dystrophy 21Mar 26, 2024
Cone-rod dystrophy 91Oct 5, 2022
Congenital heart defects and ectodermal dysplasia1Jun 9, 2022
Congenital heart defects, multiple types, 71Mar 27, 2024
Congenital muscular dystrophy with cataracts and intellectual disability2Nov 18, 2022
Congenital muscular hypertrophy-cerebral syndrome1Sep 21, 2020
Congenital myasthenic syndrome 131May 7, 2021
Congenital myasthenic syndrome 51Mar 26, 2024
Congenital stationary night blindness autosomal dominant 11Oct 4, 2022
Cornelia de Lange syndrome 32Oct 30, 2020
Cornelia de Lange syndrome 53Jan 13, 2022
Creatine transporter deficiency1May 24, 2022
DYRK1A-related intellectual disability syndrome1Apr 5, 2023
De Lange syndrome1Jan 13, 2020
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11Apr 8, 2020
Dejerine-Sottas disease2Aug 23, 2017
Delayed speech and language development6Jul 19, 2019
Developmental and epileptic encephalopathy 6B1Jan 24, 2022
Developmental and epileptic encephalopathy 941May 20, 2022
Developmental and epileptic encephalopathy 971Aug 23, 2023
Developmental and epileptic encephalopathy, 113Jul 12, 2024
Developmental and epileptic encephalopathy, 271May 20, 2022
Developmental and epileptic encephalopathy, 421Sep 2, 2022
Developmental and epileptic encephalopathy, 52Dec 23, 2019
Developmental and epileptic encephalopathy, 672Apr 27, 2023
Developmental and epileptic encephalopathy, 71May 13, 2022
Developmental and epileptic encephalopathy, 721Jan 17, 2024
Developmental delay with autism spectrum disorder and gait instability1Sep 8, 2021
Developmental delay with or without dysmorphic facies and autism1Mar 17, 2023
Developmental delay with or without epilepsy1Nov 14, 2023
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures1Dec 21, 2022
Dias-Logan syndrome2Aug 1, 2023
Diets-Jongmans syndrome2May 29, 2024
Dilated cardiomyopathy 1DD1Jun 25, 2020
Dilated cardiomyopathy 1G1Jan 18, 2023
Dilated cardiomyopathy 1HH1Aug 8, 2017
Dilated cardiomyopathy 1Y1Jan 7, 2021
Dystonia 251Feb 14, 2024
Dystonia 91Feb 24, 2022
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive1Mar 3, 2021
Ectodermal dysplasia 13, hair/tooth type1Feb 1, 2024
Ehlers-Danlos syndrome due to tenascin-X deficiency1Aug 31, 2022
Ehlers-Danlos syndrome, periodontal type 11Apr 21, 2023
Ehlers-Danlos syndrome, type 42Jan 17, 2024
Emery-Dreifuss muscular dystrophy 5, autosomal dominant1May 20, 2022
Epilepsy, early-onset, with or without developmental delay1Jun 28, 2023
Epilepsy, familial focal, with variable foci 21May 20, 2022
Epilepsy, idiopathic generalized, susceptibility to, 121Apr 18, 2023
Epileptic encephalopathy, infantile or early childhood, 22May 30, 2024
Epileptic encephalopathy, infantile or early childhood, 32Sep 22, 2021
Epiphyseal dysplasia, multiple, 61Feb 13, 2023
Episodic ataxia type 11Aug 31, 2023
Episodic ataxia type 61Jul 12, 2024
Erythrokeratodermia variabilis et progressiva 21Jul 3, 2023
Exostoses, multiple, type 11Jan 11, 2024
FG syndrome 21Aug 18, 2023
Familial adenomatous polyposis 12Sep 22, 2020
Familial adenomatous polyposis 21Sep 2, 2022
Familial cancer of breast6Aug 12, 2022
Familial dysfibrinogenemia1Dec 25, 2020
Familial episodic pain syndrome with predominantly lower limb involvement2Apr 6, 2021
Familial episodic pain syndrome with predominantly upper body involvement1Jul 11, 2023
Fanconi anemia complementation group D11Sep 23, 2022
Febrile seizure (within the age range of 3 months to 6 years)1Sep 15, 2022
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies1Feb 9, 2024
Furrowed tongue1Jul 14, 2021
Generalized epilepsy with febrile seizures plus, type 101Sep 22, 2023
Genitopatellar syndrome1Oct 10, 2023
Gillespie syndrome1Sep 22, 2020
Global developmental delay11Sep 19, 2022
Global developmental delay with speech and behavioral abnormalities2Mar 26, 2024
Glomerulopathy with fibronectin deposits 21Sep 9, 2022
Glycogen storage disease type III1Mar 9, 2021
Glycogen storage disease, type II1Aug 25, 2023
Glycogen storage disease, type IV1Jan 23, 2021
Gorlin syndrome1May 18, 2022
Greig cephalopolysyndactyly syndrome2Jun 21, 2022
Growth delay due to insulin-like growth factor I resistance1May 14, 2021
Harel-Yoon syndrome1Dec 18, 2020
Hearing loss, autosomal dominant 375Mar 19, 2024
Hearing loss, autosomal dominant 731May 11, 2022
Hearing loss, autosomal dominant 752Jul 1, 2024
Hearing loss, autosomal dominant 781Mar 27, 2024
Hearing loss, autosomal dominant 841Mar 27, 2024
Hearing loss, autosomal dominant 851Apr 12, 2023
Heart, malformation of1Oct 3, 2021
Heimler syndrome 21Apr 9, 2019
Hemangioma1Apr 4, 2019
Hennekam lymphangiectasia-lymphedema syndrome 21Sep 2, 2022
Hereditary spastic paraplegia 101Jul 20, 2017
Hereditary spastic paraplegia 151Jul 7, 2020
Hereditary spastic paraplegia 301Jun 4, 2021
Hereditary spastic paraplegia 352May 20, 2022
Hereditary spastic paraplegia 43Jul 3, 2021
Hereditary spastic paraplegia 502Jul 21, 2022
Hereditary spastic paraplegia 5A1Jun 13, 2022
Hereditary spastic paraplegia 61Jun 2, 2022
Hereditary spastic paraplegia 72Oct 5, 2020
Hereditary spastic paraplegia 732Sep 10, 2021
Holoprosencephaly 13, X-linked1Dec 3, 2021
Houge-Janssens syndrome 21Jan 23, 2023
Hutchinson-Gilford syndrome1Nov 1, 2021
Hypercholesterolemia, autosomal dominant, type B1Jul 26, 2022
Hypergonadotropic hypogonadism1Jul 19, 2019
Hyperinsulinemic hypoglycemia, familial, 11Mar 13, 2021
Hyperphosphatasia with intellectual disability syndrome 11Aug 12, 2021
Hypertrophic cardiomyopathy1Feb 2, 2022
Hypertrophic cardiomyopathy 141May 20, 2022
Hypertrophic cardiomyopathy 261Mar 18, 2024
Hypertrophic cardiomyopathy 31Sep 18, 2020
Hypertrophic cardiomyopathy 41May 4, 2017
Hypochondroplasia1May 20, 2022
Hypoparathyroidism, deafness, renal disease syndrome1Jul 3, 2023
Hypoplastic left heart syndrome1Jun 30, 2020
Hypotonia3Apr 30, 2020
Hypotonia, infantile, with psychomotor retardation and characteristic facies 11Jun 22, 2022
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Aug 8, 2023
Idiopathic basal ganglia calcification 11Apr 22, 2024
Intellectual developmental disorder 60 with seizures1Sep 22, 2021
Intellectual developmental disorder 611Jan 15, 2021
Intellectual developmental disorder with autism and macrocephaly3Jul 1, 2024
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures1Jul 12, 2024
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities2Jan 23, 2023
Intellectual developmental disorder with impaired language and dysmorphic facies1May 20, 2022
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia1Jan 18, 2024
Intellectual developmental disorder, autosomal dominant 651May 3, 2023
Intellectual developmental disorder, autosomal dominant 661Dec 2, 2022
Intellectual developmental disorder, autosomal dominant 681Dec 7, 2023
Intellectual developmental disorder, autosomal recessive 671Dec 14, 2020
Intellectual disability22Oct 7, 2020
Intellectual disability, X-linked 1051Jan 11, 2024
Intellectual disability, X-linked 491May 23, 2022
Intellectual disability, X-linked 961Feb 9, 2022
Intellectual disability, X-linked 991Sep 5, 2022
Intellectual disability, X-linked syndromic, Turner type1Mar 26, 2024
Intellectual disability, X-linked, syndromic, 351Apr 29, 2022
Intellectual disability, autosomal dominant 132Sep 5, 2022
Intellectual disability, autosomal dominant 341Sep 26, 2022
Intellectual disability, autosomal dominant 391Sep 1, 2020
Intellectual disability, autosomal dominant 463Mar 26, 2024
Intellectual disability, autosomal dominant 472May 20, 2022
Intellectual disability, autosomal dominant 511Jan 23, 2023
Intellectual disability, autosomal dominant 531Jun 30, 2023
Intellectual disability, autosomal dominant 561Mar 26, 2024
Intellectual disability, autosomal dominant 61Jul 9, 2024
Intellectual disability, autosomal dominant 81Jul 19, 2022
Intellectual disability, autosomal recessive 641Sep 16, 2022
Intellectual disability, autosomal recessive 651May 3, 2023
Intellectual disability, mild2Sep 19, 2022
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency4Aug 25, 2022
Intellectual disability-hypotonic facies syndrome, X-linked, 11Oct 20, 2020
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome3Apr 25, 2024
Intellectual disability-severe speech delay-mild dysmorphism syndrome2Apr 12, 2023
Joubert syndrome 371Sep 5, 2022
Joubert syndrome 401May 25, 2022
KBG syndrome1May 6, 2024
Kabuki syndrome 19Oct 12, 2022
Keppen-Lubinsky syndrome1Sep 8, 2021
Khan-Khan-Katsanis syndrome1Sep 9, 2022
Kleefstra syndrome 11Jul 3, 2023
Kleefstra syndrome 21Mar 15, 2021
Koolen-de Vries syndrome1Oct 7, 2020
Landau-Kleffner syndrome1Sep 26, 2022
Late-onset retinal degeneration1May 27, 2022
Lesch-Nyhan syndrome1Apr 16, 2024
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome1Sep 26, 2022
Linear skin defects with multiple congenital anomalies 11Jul 22, 2023
Lissencephaly 9 with complex brainstem malformation1Jul 29, 2021
Lissencephaly due to TUBA1A mutation2Sep 30, 2020
Loeys-Dietz syndrome 41Mar 19, 2024
Long QT syndrome 11Feb 16, 2023
Long QT syndrome 121Nov 12, 2020
Long QT syndrome 22Jan 4, 2022
Long QT syndrome 31Jun 7, 2022
Long QT syndrome 61May 23, 2022
Long qt syndrome 81Dec 18, 2020
Lower limb spasticity1Jul 19, 2019
Luscan-Lumish syndrome1Sep 29, 2020
Lynch syndrome 12Mar 5, 2021
Lynch syndrome 41Jun 28, 2024
Lynch syndrome 51Mar 15, 2018
Macrocephaly1Jul 26, 2019
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome2Aug 24, 2023
Macular degeneration, age-related, 31Jun 18, 2021
Macular dystrophy with central cone involvement1Jan 23, 2023
Maple syrup urine disease, mild variant1Jun 7, 2023
Marfan syndrome3Mar 27, 2024
Maturity-onset diabetes of the young type 21Oct 21, 2020
McCune-Albright syndrome1Mar 26, 2024
Megalencephalic leukoencephalopathy with subcortical cysts 2A1Aug 18, 2017
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability1Aug 18, 2017
Meier-Gorlin syndrome 12Jul 7, 2021
Menke-Hennekam syndrome 11Feb 18, 2021
Methylcobalamin deficiency type cblG1Mar 27, 2024
Methylmalonic acidemia with homocystinuria, type cblX1Mar 26, 2024
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant1May 28, 2024
Microcephalic osteodysplastic dysplasia, Saul-Wilson type1May 14, 2021
Microcephaly5Jun 30, 2020
Microcephaly 18, primary, autosomal dominant1Oct 6, 2021
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations1May 15, 2018
Microcephaly 20, primary, autosomal recessive1Sep 22, 2020
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1Mar 9, 2022
Microcephaly, short stature, and limb abnormalities1Oct 2, 2018
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome2Mar 26, 2024
Mucocutaneous ulceration, chronic1Apr 12, 2024
Mucolipidosis type II1Feb 27, 2024
Mucopolysaccharidosis, MPS-III-C1Sep 22, 2020
Muir-Torré syndrome1Feb 3, 2022
Muscular atrophy1Jul 30, 2021
Muscular dystrophy, limb-girdle, autosomal recessive 232May 19, 2022
Myopathy2Apr 4, 2019
Myopathy due to calsequestrin and SERCA1 protein overload1Oct 2, 2020
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies1Aug 27, 2021
Myopathy, proximal, and ophthalmoplegia1Sep 22, 2020
Nail-patella syndrome1May 19, 2023
Nemaline myopathy 21Dec 9, 2020
Nemaline myopathy 61Jun 15, 2020
Nephronophthisis 141Oct 29, 2020
Neurodegeneration with brain iron accumulation 51Dec 27, 2019
Neurodevelopmental abnormality1Aug 2, 2022
Neurodevelopmental delay4Jul 19, 2019
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities1Jan 15, 2024
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies1Jan 20, 2022
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum2Oct 7, 2022
Neurodevelopmental disorder with eye movement abnormalities and ataxia1Feb 16, 2023
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features1Jul 13, 2022
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures1Apr 28, 2023
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1Mar 21, 2023
Neurodevelopmental disorder with or without autism or seizures1Mar 22, 2023
Neurodevelopmental disorder with or without early-onset generalized epilepsy1Jun 30, 2023
Neurodevelopmental disorder with severe motor impairment and absent language1Jan 3, 2022
Neurodevelopmental, jaw, eye, and digital syndrome1Dec 10, 2020
Neurofibromatosis, type 14May 30, 2024
Neuronopathy, distal hereditary motor, autosomal dominant 111Nov 14, 2023
Neuronopathy, distal hereditary motor, type 7B2Jun 4, 2021
Nicolaides-Baraitser syndrome3May 23, 2024
Nijmegen breakage syndrome-like disorder1Mar 27, 2024
Noonan syndrome 101Jan 31, 2024
Noonan syndrome 41Dec 30, 2019
Norman-Roberts syndrome1May 15, 2018
O'Donnell-Luria-Rodan syndrome1Oct 27, 2021
Obesity1Oct 21, 2020
Occult macular dystrophy1Apr 12, 2022
Oculomotor apraxia2Nov 23, 2021
Ogden syndrome2May 20, 2022
Optic atrophy 94Mar 26, 2024
Orofaciodigital syndrome I1Sep 12, 2018
Osteochondritis dissecans1Feb 22, 2021
Osteogenesis imperfecta1Apr 7, 2022
Osteogenesis imperfecta type I2Feb 6, 2024
Osteopathia striata with cranial sclerosis1Jun 9, 2022
Osteoporosis2Mar 7, 2022
Oto-palato-digital syndrome, type I1Jan 23, 2023
PERCHING syndrome2Sep 8, 2021
PHARC syndrome1May 20, 2022
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1Mar 8, 2023
Papillary renal cell carcinoma type 11May 5, 2023
Parenti-mignot neurodevelopmental syndrome1Mar 5, 2024
Parkinson disease 18, autosomal dominant, susceptibility to1Sep 9, 2022
Paroxysmal dyskinesia1Mar 18, 2022
Periventricular nodular heterotopia 93May 19, 2023
Peroxisome biogenesis disorder 9B1Feb 9, 2021
Peters plus syndrome1Sep 8, 2021
Phelan-McDermid syndrome3Mar 17, 2023
Pheochromocytoma1Mar 25, 2024
Pigmented nodular adrenocortical disease, primary, 21May 17, 2023
Pilarowski-Bjornsson syndrome1Mar 6, 2023
Polycystic kidney disease 21Jun 21, 2021
Polyneuropathy1Mar 11, 2022
Pontocerebellar hypoplasia type 2A1Jul 26, 2019
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal1Dec 18, 2020
Pontocerebellar hypoplasia, type 1C2Jun 9, 2022
Premature ovarian failure 32Mar 27, 2024
Premature ovarian failure 71Jan 3, 2023
Primrose syndrome1Feb 4, 2022
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 31Oct 21, 2020
Progressive familial heart block type IB1Aug 8, 2017
Progressive sclerosing poliodystrophy1Mar 5, 2021
Protan defect1Dec 15, 2023
Ptosis1Apr 4, 2019
Rahman syndrome1Mar 27, 2024
Rajab interstitial lung disease with brain calcifications 22Dec 13, 2022
Renal agenesis1Jul 19, 2019
Renal hypoplasia/aplasia1Jul 19, 2019
Renpenning syndrome1Mar 3, 2021
Retinitis pigmentosa 111May 23, 2022
Retinitis pigmentosa 181Dec 14, 2021
Retinitis pigmentosa 21Jan 5, 2022
Retinitis pigmentosa 431Sep 5, 2023
Retinitis pigmentosa 832May 30, 2024
Seckel syndrome 51Feb 22, 2017
See cases13Jun 5, 2023
Seizure5Sep 19, 2022
Seizures, benign familial neonatal, 21Aug 15, 2023
Sensorineural hearing loss disorder2Apr 13, 2019
Sessile serrated polyposis cancer syndrome1Dec 5, 2022
Severe early-childhood-onset retinal dystrophy1Jul 3, 2023
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1Nov 24, 2022
Severe intellectual disability-progressive spastic diplegia syndrome1Nov 3, 2022
Severe myoclonic epilepsy in infancy1Nov 24, 2022
Short stature4Jan 26, 2022
Shukla-Vernon syndrome2May 10, 2024
Sifrim-Hitz-Weiss syndrome1Sep 6, 2023
Snijders Blok-Campeau syndrome2Jan 23, 2023
Sotos syndrome7Dec 5, 2022
Spastic paraplegia, intellectual disability, nystagmus, and obesity1Jan 23, 2023
Spastic tetraparesis2Feb 4, 2022
Spinocerebellar ataxia 471Mar 5, 2021
Spinocerebellar ataxia type 141Sep 23, 2020
Spinocerebellar ataxia type 292Jul 26, 2022
Spinocerebellar ataxia type 352May 27, 2022
Spinocerebellar ataxia type 381Nov 12, 2020
Spinocerebellar ataxia type 421Jun 8, 2023
Spinocerebellar ataxia type 51Mar 22, 2021
Spondyloepimetaphyseal dysplasia with multiple dislocations1Apr 13, 2023
Spondyloepiphyseal dysplasia congenita1Jan 18, 2023
Suleiman-El-Hattab syndrome1Aug 24, 2021
Syndromic X-linked intellectual disability 141Jun 15, 2020
Syndromic X-linked intellectual disability Claes-Jensen type1Oct 8, 2020
Syndromic X-linked intellectual disability Najm type1May 15, 2018
Tall stature3Apr 30, 2020
Tatton-Brown-Rahman overgrowth syndrome1Aug 3, 2018
Telangiectasia, hereditary hemorrhagic, type 13Mar 1, 2022
Telangiectasia, hereditary hemorrhagic, type 21Jun 28, 2018
Timothy syndrome1Dec 18, 2020
Torsion dystonia 41Oct 13, 2022
Trichorhinophalangeal dysplasia type I2Feb 1, 2024
Tuberous sclerosis 11Nov 9, 2022
Tuberous sclerosis 21Nov 25, 2022
Tyrosinase-negative oculocutaneous albinism1Jan 29, 2021
Usher syndrome1Oct 7, 2020
Usher syndrome type 12May 30, 2024
Usher syndrome type 2A4Jan 23, 2023
Usher syndrome type 2C1Sep 6, 2023
Vertebral hypersegmentation and orofacial anomalies1Aug 22, 2022
Ververi-Brady syndrome1May 14, 2021
Very long chain acyl-CoA dehydrogenase deficiency1Jun 15, 2020
Vissers-Bodmer syndrome1Jul 1, 2021
Vitelliform macular dystrophy 21Apr 19, 2023
Vitelliform macular dystrophy 41Jan 11, 2023
Weaver syndrome1Jul 18, 2017
Wiedemann-Steiner syndrome1Jun 3, 2022
X-linked intellectual disability Cabezas type1Mar 22, 2022
X-linked intellectual disability, Cantagrel type1Oct 9, 2020
X-linked mixed hearing loss with perilymphatic gusher1May 25, 2022
Zimmermann-laband syndrome 31Dec 21, 2022
neuro-ectodermal phenotype1Dec 2, 2019
not provided12Oct 10, 2018
not specified10Jul 5, 2017