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Clinical Genetics Laboratory (University Hospital Schleswig-Holstein)

General information

Clinical Genetics Laboratory
University Hospital Schleswig-Holstein
Ratzeburger Allee 160
Luebeck
Schleswig-Holstein
Germany - 23562
https://www.uksh.de/humangenetik/
Organization ID: 508136

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 496

Gene

GeneSubmissionsLast Updated
AARS11Oct 6, 2022
ABCA21Oct 6, 2022
ABCA42Dec 3, 2021
ABCA71Oct 6, 2022
ABCD11Oct 6, 2022
ACADSB1Mar 14, 2024
ACBD61Oct 6, 2022
ACSL41Nov 21, 2023
ACTA11Oct 6, 2022
ACTB1Jun 17, 2021
ACTL6B1Oct 6, 2022
ADNP2Jan 16, 2025
AFG2A2Jul 5, 2021
AFG3L22Dec 3, 2021
AHDC11Mar 14, 2024
AKT11Jun 17, 2021
ALDH18A11Oct 6, 2022
ALDH5A11Nov 4, 2021
ALMS12Jul 5, 2021
AMMECR11Mar 14, 2024
ANKRD112Oct 6, 2022
ANKRD173Jan 16, 2025
ANO101Jun 17, 2021
ANO51Nov 4, 2021
AP1G11Mar 14, 2024
APC1Nov 4, 2021
APOB1Nov 4, 2021
AR1Mar 14, 2024
ARID1A1Oct 6, 2022
ARID1B2Mar 14, 2024
ARID21Oct 6, 2022
ARSA1Oct 6, 2022
ASH1L1Dec 3, 2021
ASXL11Jun 17, 2021
ASXL31Nov 4, 2021
ATP1A11Jun 17, 2021
ATP1A31Jun 17, 2021
ATRX3Mar 14, 2024
B3GLCT1Oct 6, 2022
BAZ1B1Dec 3, 2021
BLM1Oct 6, 2022
BPTF3Oct 6, 2022
BRAF1Jan 16, 2025
BRCA21Oct 6, 2022
BRIP11Nov 21, 2023
BRPF11Oct 6, 2022
CACNA1A4Mar 14, 2024
CACNA1C1Nov 4, 2021
CACNA1C-AS11Nov 4, 2021
CACNA1D1Oct 6, 2022
CACNG21Nov 21, 2023
CACNG2-DT1Nov 4, 2021
CADM31Oct 6, 2022
CADM3-AS11Oct 6, 2022
CAMK2G1Oct 6, 2022
CAMTA11Oct 6, 2022
CAPN33Jan 16, 2025
CASR1Nov 4, 2021
CBL1Jun 17, 2021
CBS2Dec 3, 2021
CCDC88C1Oct 6, 2022
CCDST1Jun 17, 2021
CERT11Oct 6, 2022
CHAMP11Jan 16, 2025
CHD12Jan 16, 2025
CHD35Mar 14, 2024
CHD73Jan 16, 2025
CHD81Mar 14, 2024
CHEK22Dec 3, 2021
CHM1Nov 21, 2023
CHRNA11Nov 21, 2023
CIC2Nov 4, 2021
CLCN11Mar 14, 2024
CLCN21Nov 4, 2021
CLCN41Jan 16, 2025
CLTC2Mar 14, 2024
CNOT11Nov 4, 2021
CNOT31Mar 14, 2024
COG41Dec 3, 2021
COL12A12Mar 14, 2024
COL1A11Mar 14, 2024
COL1A21Oct 6, 2022
COL2A13Mar 14, 2024
COL4A11Nov 4, 2021
COL5A21Mar 14, 2024
COL6A22Mar 14, 2024
CRB14Oct 6, 2022
CREBBP2Jan 16, 2025
CSNK2A11Nov 4, 2021
CTNNA31Oct 6, 2022
CTNNB11Jun 17, 2021
CTNND21Jan 16, 2025
CUX11Dec 1, 2022
DCTN51Dec 3, 2021
DDX3X1Nov 4, 2021
DDX61Jan 16, 2025
DEPDC51Mar 14, 2024
DHX161Nov 21, 2023
DNAAF51Mar 14, 2024
DNMT3A1Nov 4, 2021
DSC21Nov 4, 2021
DSP1Oct 6, 2022
DUOX22Jul 5, 2021
DYNC1H12Oct 6, 2022
DYRK1A1Nov 21, 2023
EBF31Oct 6, 2022
EIF3F1Dec 3, 2021
EMC12Jan 16, 2025
EMC1-AS11Jan 16, 2025
EP3003Oct 6, 2022
ERGIC31Nov 21, 2023
ERLIN21Oct 6, 2022
ERMARD1Jan 16, 2025
ETV61Dec 3, 2021
EXOSC31Oct 6, 2022
EXT11Jun 17, 2021
F51Oct 6, 2022
FBN12Mar 14, 2024
FBN21Mar 14, 2024
FBXO111Oct 6, 2022
FBXO71Nov 21, 2023
FBXW112Oct 6, 2022
FGFR11Nov 4, 2021
FGFR21Oct 6, 2022
FLG1Jun 17, 2021
FLNA1Nov 21, 2023
FLNB1Nov 4, 2021
FLNC2Mar 14, 2024
FOXE31Oct 6, 2022
FOXP22Oct 6, 2022
FRMD71Oct 6, 2022
FRMPD41Dec 3, 2021
G6PD1Jun 17, 2021
GABRA51Mar 14, 2024
GARS11Nov 4, 2021
GATAD2B2Jan 16, 2025
GBA11Nov 4, 2021
GDAP14Oct 6, 2022
GDF51Nov 4, 2021
GDF5-AS11Nov 4, 2021
GJB21Nov 4, 2021
GJC21Jun 17, 2021
GLDN2Jul 5, 2021
GNB11Mar 14, 2024
GRIA21Nov 4, 2021
GRIN12Oct 6, 2022
GRIN2A2Nov 21, 2023
GRIN2B1Mar 14, 2024
GUCA1A1Oct 6, 2022
GUCA1ANB-GUCA1A1Oct 6, 2022
H1-41Nov 4, 2021
HBB1Jan 16, 2025
HCCS1Oct 6, 2022
HCN11Nov 4, 2021
HFE1Nov 4, 2021
HMCN11Mar 14, 2024
HMGB12Jan 4, 2023
HNMT1Nov 4, 2021
HNRNPH11Mar 14, 2024
HOXA21Nov 4, 2021
HOXB131Nov 4, 2021
IFT271Nov 4, 2021
IGF1R1Mar 14, 2024
IQSEC21Oct 6, 2022
JAG12Nov 4, 2021
JUP1Mar 14, 2024
KANSL11Mar 14, 2024
KAT6A1Oct 6, 2022
KCNB12Jun 17, 2021
KCNC31Nov 4, 2021
KCND31Jan 16, 2025
KCNH21Oct 6, 2022
KCNQ24Jan 16, 2025
KCNQ31Nov 4, 2021
KCNT21Oct 6, 2022
KDM3B1Mar 14, 2024
KDM5A1Jan 25, 2024
KDM5C2Nov 4, 2021
KDM6A1Dec 3, 2021
KDR1Oct 6, 2022
KIF1A1Nov 4, 2021
KIF5A1Nov 4, 2021
KITLG1Oct 6, 2022
KMT2A1Oct 6, 2022
KMT2B2Mar 14, 2024
KMT2C1Nov 21, 2023
KMT2D1Jan 16, 2025
KMT2E1Oct 6, 2022
KMT5B2Oct 6, 2022
L2HGDH2Jan 16, 2025
LAMP22Mar 14, 2024
LHX41Oct 6, 2022
LHX4-AS11Oct 6, 2022
LINC013891Oct 6, 2022
LOC1027240581Nov 4, 2021
LOC1060990621Jan 16, 2025
LOC1066279811Nov 4, 2021
LOC1071335101Jan 16, 2025
LOC1100063191Jan 16, 2025
LOC1268073231Mar 14, 2024
LOC1268609752Mar 14, 2024
LOC1268618961Nov 4, 2021
LOC1268627571Mar 14, 2024
LOC1268631391Nov 4, 2021
LOC1289666231Mar 14, 2024
LOC1300036301Mar 14, 2024
LZTR11Oct 6, 2022
MACF11Jan 16, 2025
MAFB1Oct 6, 2022
MAGT11Mar 14, 2024
MAP1B1Jan 16, 2025
MAP2K11Dec 3, 2021
MAP2K22Jan 16, 2025
MBD51Oct 6, 2022
MEA11Jun 17, 2021
MECP22Mar 14, 2024
MED12L1Nov 4, 2021
MED132Oct 6, 2022
MED13L2Mar 14, 2024
MEFV1Nov 4, 2021
MERTK1Mar 14, 2024
MFN22Oct 6, 2022
MILR11Oct 6, 2022
MME2Oct 6, 2022
MSH62Jan 16, 2025
MSTO11Oct 6, 2022
MSX11Nov 4, 2021
MT-ND41Nov 4, 2021
MTAP1Nov 4, 2021
MTMR141Nov 21, 2023
MVP-DT3Oct 6, 2022
MYBPC32Oct 6, 2022
MYH61Nov 4, 2021
MYH74Oct 6, 2022
MYRF1Oct 6, 2022
MYT1L1Oct 6, 2022
NAA152Oct 6, 2022
NALCN1Nov 4, 2021
NARS11Nov 4, 2021
NBEA3Mar 14, 2024
NEFL1Nov 4, 2021
NF11Oct 6, 2022
NFIB1Oct 6, 2022
NFIX4Oct 6, 2022
NIPBL3Mar 14, 2024
NLGN11Mar 14, 2024
NLGN31Dec 1, 2022
NLRP121Nov 4, 2021
NOTCH32Oct 6, 2022
NOVA21Mar 14, 2024
NPC12Jan 16, 2025
NPC21Jun 17, 2021
NR1D11Nov 4, 2021
NR2E31Oct 6, 2022
NR5A11Oct 6, 2022
NSD11Oct 6, 2022
OBI1-AS11Mar 14, 2024
OPA12Oct 6, 2022
OTOGL1Mar 14, 2024
OTUD51Jun 17, 2021
PAK12Oct 6, 2022
PALB22Oct 6, 2022
PARK71Nov 4, 2021
PAX61Oct 6, 2022
PHF21A1Nov 4, 2021
PHIP1Oct 6, 2022
PHKA21Nov 4, 2021
PIGG1Mar 14, 2024
PIK3CA2Oct 6, 2022
PKD11Nov 21, 2023
PLCB41Nov 4, 2021
POGZ1Jun 17, 2021
POLG21Oct 6, 2022
POLR2A1Jan 16, 2025
POU4F11Mar 14, 2024
POU4F31Oct 6, 2022
PPOX1Nov 21, 2023
PPP1R12A3Jan 16, 2025
PPP2R5D1Jun 17, 2021
PROP11Oct 6, 2022
PRPH21Dec 3, 2021
PRPS11Oct 6, 2022
PRR122Mar 14, 2024
PRRT23Oct 6, 2022
PSAP1Jun 17, 2021
PTCH12Oct 6, 2022
PTEN1Jun 17, 2021
PTPN113Nov 21, 2023
PUF601Oct 6, 2022
PUS71Nov 4, 2021
RAB33B1Jan 16, 2025
RAB3GAP11Oct 6, 2022
RAC11Jun 17, 2021
RAF11Nov 21, 2023
RANBP21Mar 14, 2024
RBM201Mar 14, 2024
RBM27-POU4F31Oct 6, 2022
REEP11Oct 6, 2022
RET1Mar 14, 2024
RIPOR21Jan 16, 2025
RNF21Mar 14, 2024
RNF2131Oct 6, 2022
RNF213-AS11Oct 6, 2022
RP1L11Nov 4, 2021
RPGR2Oct 6, 2022
RPS6KA32Jun 17, 2021
RYR12Oct 6, 2022
RYR22Oct 6, 2022
SATB21Oct 6, 2022
SCN1A2Oct 6, 2022
SCN1A-AS11Oct 6, 2022
SCN1B2Oct 6, 2022
SCN2A3Mar 14, 2024
SCN3A2Oct 6, 2022
SCN5A1Dec 3, 2021
SCN8A4Mar 14, 2024
SCN9A1Oct 6, 2022
SDHA1Oct 6, 2022
SEC23B1Nov 4, 2021
SET1Mar 14, 2024
SETBP11Oct 6, 2022
SETD22Oct 6, 2022
SETX1Oct 6, 2022
SF3B41Oct 6, 2022
SHANK21Jun 17, 2021
SHANK31Oct 6, 2022
SIN3A2Nov 4, 2021
SLC12A51Nov 21, 2023
SLC45A21Nov 21, 2023
SLC6A11Oct 6, 2022
SMAD61Jun 17, 2021
SMARCA21Nov 4, 2021
SMARCC21Oct 6, 2022
SMC31Nov 4, 2021
SORD1Oct 6, 2022
SOS11Oct 6, 2022
SOX111Nov 21, 2023
SOX51Oct 6, 2022
SOX61Oct 6, 2022
SPAST1Jun 17, 2021
SPTB1Oct 6, 2022
SPTBN12Mar 14, 2024
SRPX21Oct 6, 2022
SRY1Jan 16, 2025
STAT5B1Oct 6, 2022
STING11Oct 6, 2022
STX1B1Mar 14, 2024
SYNE12Mar 14, 2024
SYNE22Oct 6, 2022
SYNGAP11Jun 17, 2021
SYNGAP1-AS11Jun 17, 2021
TBCEL-TECTA1Oct 6, 2022
TBR13Mar 14, 2024
TBX221Nov 4, 2021
TBX52Jul 5, 2021
TCF201Dec 3, 2021
TCF42Mar 14, 2024
TECTA1Oct 6, 2022
TEK1Oct 6, 2022
TENM41Nov 4, 2021
TET32Oct 6, 2022
TFAP2B2Mar 14, 2024
TFG1Dec 3, 2021
TGFBR11Jun 17, 2021
THRA1Nov 4, 2021
TMEM431Nov 21, 2023
TNRC6B1Oct 6, 2022
TPO1Oct 6, 2022
TRAPPC121Oct 6, 2022
TRIO1Mar 14, 2024
TRIP122Jan 16, 2025
TRPM11Oct 6, 2022
TRRAP3Oct 6, 2022
TSHZ11Oct 6, 2022
TTN4Mar 14, 2024
TTN-AS12Mar 14, 2024
TTR1Jun 17, 2021
TUBA1A1Jun 17, 2021
TUBB2A1Nov 4, 2021
TUBB32Oct 6, 2022
UBE3B1Oct 6, 2022
UGT1A1Mar 14, 2024
UGT1A11Mar 14, 2024
UGT1A101Mar 14, 2024
UGT1A31Mar 14, 2024
UGT1A41Mar 14, 2024
UGT1A51Mar 14, 2024
UGT1A61Mar 14, 2024
UGT1A71Mar 14, 2024
UGT1A81Mar 14, 2024
UGT1A91Mar 14, 2024
USH2A1Nov 4, 2021
USP9X2Oct 6, 2022
VPS13D2Jan 16, 2025
VWA11Mar 14, 2024
WAC1Oct 6, 2022
WFS12Oct 6, 2022
WNT10A1Nov 4, 2021
WNT10B1Dec 18, 2024
YY11Oct 6, 2022
ZBTB181Nov 4, 2021
ZEB11Mar 14, 2024
ZEB1-AS11Mar 14, 2024
ZEB21Oct 6, 2022
ZMIZ12Mar 14, 2024
ZMYND111Jan 16, 2025

Condition

NameSubmissionsLast Updated
46,XY sex reversal 11Jan 16, 2025
46,XY sex reversal 31Oct 6, 2022
8q24.3 microdeletion syndrome1Oct 6, 2022
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2Jan 16, 2025
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1Mar 14, 2024
Actin accumulation myopathy1Oct 6, 2022
Acute myeloid leukemia1Nov 4, 2021
Adrenoleukodystrophy1Oct 6, 2022
Age related macular degeneration 11Mar 14, 2024
Age related macular degeneration 22Dec 3, 2021
Alagille syndrome due to a JAG1 point mutation2Nov 4, 2021
Aldosterone-producing adenoma with seizures and neurological abnormalities1Oct 6, 2022
Alpha thalassemia-X-linked intellectual disability syndrome1Nov 4, 2021
Alstrom syndrome2Jul 5, 2021
Alzheimer disease 91Oct 6, 2022
Amyloidosis, hereditary systemic 11Jun 17, 2021
Aniridia 11Oct 6, 2022
Arrhythmogenic right ventricular dysplasia 111Nov 4, 2021
Arrhythmogenic right ventricular dysplasia 121Mar 14, 2024
Arrhythmogenic right ventricular dysplasia 131Oct 6, 2022
Arthrogryposis multiplex congenita 3, myogenic type1Mar 14, 2024
Ataxia, intention tremor, and hypotonia syndrome, childhood-onset1Mar 14, 2024
Atrial fibrillation, familial, 131Nov 4, 2021
Atrial septal defect 31Nov 4, 2021
Auditory neuropathy, autosomal dominant 31Nov 21, 2023
Aural atresia, congenital1Oct 6, 2022
Auriculocondylar syndrome 21Nov 4, 2021
Autism, susceptibility to, 171Jun 17, 2021
Autism, susceptibility to, 201Mar 14, 2024
Autism, susceptibility to, 53Mar 14, 2024
Autism, susceptibility to, X-linked 11Dec 1, 2022
Autosomal dominant centronuclear myopathy1Nov 21, 2023
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1Nov 4, 2021
Autosomal dominant hypocalcemia 11Nov 4, 2021
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1Oct 6, 2022
Autosomal dominant nonsyndromic hearing loss 121Oct 6, 2022
Autosomal dominant nonsyndromic hearing loss 151Oct 6, 2022
Autosomal dominant nonsyndromic hearing loss 211Jan 16, 2025
Autosomal dominant nonsyndromic hearing loss 3A1Nov 4, 2021
Autosomal dominant optic atrophy classic form2Oct 6, 2022
Autosomal recessive ataxia, Beauce type2Mar 14, 2024
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome2Jan 16, 2025
Autosomal recessive early-onset Parkinson disease 71Nov 4, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2A3Jan 16, 2025
Autosomal recessive limb-girdle muscular dystrophy type 2L1Nov 4, 2021
Autosomal recessive nonsyndromic hearing loss 84B1Mar 14, 2024
Autosomal recessive osteopetrosis 81Mar 14, 2024
Autosomal recessive spinocerebellar ataxia 101Jun 17, 2021
Baraitser-Winter syndrome 11Jun 17, 2021
Bardet-Biedl syndrome 191Nov 4, 2021
Beck-Fahrner syndrome2Oct 6, 2022
Beta-thalassemia HBB/LCRB1Jan 16, 2025
Bethlem myopathy 1A1Mar 14, 2024
Bethlem myopathy 22Mar 14, 2024
Bilateral microtia-deafness-cleft palate syndrome1Nov 4, 2021
Bloom syndrome1Oct 6, 2022
Bohring-Opitz syndrome1Jun 17, 2021
Bone osteosarcoma1Nov 4, 2021
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia2Jan 4, 2023
Brugada syndrome 11Oct 6, 2022
CBL-related disorder1Jun 17, 2021
CHARGE syndrome2Jan 16, 2025
CLAPO syndrome1Oct 6, 2022
CLOVES syndrome1Oct 6, 2022
Capillary infantile hemangioma1Oct 6, 2022
Cardiac anomalies - developmental delay - facial dysmorphism syndrome2Mar 14, 2024
Cardiac valvular dysplasia, X-linked1Nov 21, 2023
Cardiac-urogenital syndrome1Oct 6, 2022
Cardiofaciocutaneous syndrome 11Jan 16, 2025
Cardiofaciocutaneous syndrome 31Dec 3, 2021
Cardiofaciocutaneous syndrome 42Jan 16, 2025
Catecholaminergic polymorphic ventricular tachycardia 12Oct 6, 2022
Central core myopathy1Oct 6, 2022
Cerebellar atrophy, visual impairment, and psychomotor retardation;2Jan 16, 2025
Cerebellar dysfunction with variable cognitive and behavioral abnormalities1Oct 6, 2022
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11Oct 6, 2022
Char syndrome1Dec 3, 2021
Charcot-Marie-Tooth disease X-linked recessive 51Oct 6, 2022
Charcot-Marie-Tooth disease axonal type 2K4Oct 6, 2022
Charcot-Marie-Tooth disease axonal type 2N1Oct 6, 2022
Charcot-Marie-Tooth disease axonal type 2O1Oct 6, 2022
Charcot-Marie-Tooth disease axonal type 2T2Oct 6, 2022
Charcot-Marie-Tooth disease type 2A21Oct 6, 2022
Charcot-Marie-Tooth disease type 2E1Nov 4, 2021
Charcot-Marie-Tooth disease, axonal, type 2FF1Oct 6, 2022
Charcot-Marie-tooth disease, axonal, type 2DD1Jun 17, 2021
Childhood apraxia of speech2Oct 6, 2022
Chopra-Amiel-Gordon syndrome3Jan 16, 2025
Choroidal dystrophy, central areolar 21Dec 3, 2021
Choroideremia1Nov 21, 2023
Chromosome 2q32-q33 deletion syndrome1Oct 6, 2022
Chromosome Xq28 duplication syndrome1Mar 14, 2024
Clark-Baraitser syndrome2Jan 16, 2025
Classic homocystinuria2Dec 3, 2021
Cleft palate with or without ankyloglossia, X-linked1Nov 4, 2021
Coffin-Lowry syndrome2Jun 17, 2021
Coffin-Siris syndrome 12Mar 14, 2024
Coffin-Siris syndrome 61Oct 6, 2022
Coffin-Siris syndrome 81Oct 6, 2022
Cognitive impairment with or without cerebellar ataxia3Mar 14, 2024
Combined PSAP deficiency1Jun 17, 2021
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21Oct 6, 2022
Complex cortical dysplasia with other brain malformations 12Oct 6, 2022
Complex cortical dysplasia with other brain malformations 51Nov 4, 2021
Cone dystrophy 31Oct 6, 2022
Congenital contractural arachnodactyly1Mar 14, 2024
Congenital contractures of the limbs and face, hypotonia, and developmental delay1Nov 4, 2021
Congenital myasthenic syndrome 1A1Nov 21, 2023
Congenital myotonia, autosomal dominant form1Mar 14, 2024
Congenital myotonia, autosomal recessive form1Mar 14, 2024
Congenital nongoitrous hypothyroidism 61Nov 4, 2021
Congenital primary aphakia1Oct 6, 2022
Congenital stationary night blindness 1C1Oct 6, 2022
Corneal dystrophy, Fuchs endothelial, 61Mar 14, 2024
Cornelia de Lange syndrome 13Mar 14, 2024
Cornelia de Lange syndrome 31Nov 4, 2021
Cowden syndrome 11Jun 17, 2021
Cowden syndrome 71Nov 4, 2021
Crigler-Najjar syndrome type 11Mar 14, 2024
Crigler-Najjar syndrome, type II1Mar 14, 2024
DYRK1A-related intellectual disability syndrome1Nov 21, 2023
Danon disease2Mar 14, 2024
DeSanto-Shinawi syndrome due to WAC point mutation1Oct 6, 2022
Deficiency of 2-methylbutyryl-CoA dehydrogenase1Mar 14, 2024
Deficiency of iodide peroxidase1Oct 6, 2022
Developmental and epileptic encephalopathy 6B1Oct 6, 2022
Developmental and epileptic encephalopathy, 113Mar 14, 2024
Developmental and epileptic encephalopathy, 131Mar 14, 2024
Developmental and epileptic encephalopathy, 262Jun 17, 2021
Developmental and epileptic encephalopathy, 424Mar 14, 2024
Developmental and epileptic encephalopathy, 571Oct 6, 2022
Developmental and epileptic encephalopathy, 622Oct 6, 2022
Developmental and epileptic encephalopathy, 74Jan 16, 2025
Developmental and epileptic encephalopathy, 791Mar 14, 2024
Developmental delay with or without dysmorphic facies and autism3Oct 6, 2022
Developmental delay with variable intellectual impairment and behavioral abnormalities1Dec 3, 2021
Developmental delay, impaired speech, and behavioral abnormalities2Mar 14, 2024
Developmental disorder3Mar 14, 2024
Diaphyseal medullary stenosis-bone malignancy syndrome1Nov 4, 2021
Diets-Jongmans syndrome1Mar 14, 2024
Dilated cardiomyopathy 1DD1Mar 14, 2024
Dilated cardiomyopathy 1G3Mar 14, 2024
Dilated cardiomyopathy 1S3Oct 6, 2022
Distal 16p11.2 microdeletion syndrome1Jan 16, 2025
Distal myopathy with posterior leg and anterior hand involvement1Mar 14, 2024
Dystonia 121Jun 17, 2021
Dystonia 28, childhood-onset2Mar 14, 2024
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome1Oct 6, 2022
Ehlers-Danlos syndrome, classic type, 21Mar 14, 2024
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1Mar 14, 2024
Emery-Dreifuss muscular dystrophy 5, autosomal dominant2Oct 6, 2022
Epilepsy with myoclonic atonic seizures1Oct 6, 2022
Epilepsy, familial focal, with variable foci 11Mar 14, 2024
Epilepsy, idiopathic generalized, susceptibility to, 111Nov 4, 2021
Epilepsy, idiopathic generalized, susceptibility to, 141Nov 21, 2023
Episodic ataxia type 21Mar 14, 2024
Episodic kinesigenic dyskinesia 11Oct 6, 2022
Familial Mediterranean fever, autosomal dominant1Nov 4, 2021
Familial acute necrotizing encephalopathy1Mar 14, 2024
Familial adenomatous polyposis 11Nov 4, 2021
Familial cancer of breast4Nov 21, 2023
Familial cold autoinflammatory syndrome 21Nov 4, 2021
Gabriele de Vries syndrome1Oct 6, 2022
Generalized epilepsy with febrile seizures plus, type 101Nov 4, 2021
Generalized epilepsy with febrile seizures plus, type 21Nov 4, 2021
Generalized epilepsy with febrile seizures plus, type 91Mar 14, 2024
Genitourinary and/or brain malformation syndrome3Jan 16, 2025
Gilbert syndrome1Mar 14, 2024
Global developmental delay with or without impaired intellectual development1Dec 1, 2022
Global developmental delay with speech and behavioral abnormalities1Oct 6, 2022
Glycogen storage disease IXa11Nov 4, 2021
Gorlin syndrome2Oct 6, 2022
Growth delay due to insulin-like growth factor I resistance1Mar 14, 2024
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant1Oct 6, 2022
Hemochromatosis type 11Nov 4, 2021
Hereditary spastic paraplegia 101Nov 4, 2021
Hereditary spastic paraplegia 181Oct 6, 2022
Hereditary spastic paraplegia 41Jun 17, 2021
Hereditary spastic paraplegia 571Dec 3, 2021
Hereditary spastic paraplegia 9A1Oct 6, 2022
Hereditary spherocytosis type 21Oct 6, 2022
Hogue-Janssens syndrome 11Jun 17, 2021
Holoprosencephaly 12 with or without pancreatic agenesis1Nov 4, 2021
Holt-Oram syndrome2Jul 5, 2021
Hypercholesterolemia, autosomal dominant, type B1Nov 4, 2021
Hyperpigmentation with or without hypopigmentation, familial progressive1Oct 6, 2022
Hypertrophic cardiomyopathy 261Nov 4, 2021
Hypertrophic cardiomyopathy 41Oct 6, 2022
Hypogonadotropic hypogonadism 5 with or without anosmia1Oct 6, 2022
Hypotonia, ataxia, and delayed development syndrome1Oct 6, 2022
Ichthyosis vulgaris1Jun 17, 2021
Infantile convulsions and choreoathetosis1Dec 3, 2021
Intellectual developmental disorder 591Oct 6, 2022
Intellectual developmental disorder 612Oct 6, 2022
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature1Nov 4, 2021
Intellectual developmental disorder with autism and macrocephaly1Mar 14, 2024
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures1Nov 4, 2021
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Oct 6, 2022
Intellectual developmental disorder with dysmorphic facies and ptosis1Oct 6, 2022
Intellectual developmental disorder with impaired language and dysmorphic facies1Jan 16, 2025
Intellectual developmental disorder with macrocephaly, seizures, and speech delay2Oct 6, 2022
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism1Nov 21, 2023
Intellectual developmental disorder with poor growth and with or without seizures or ataxia1Oct 6, 2022
Intellectual developmental disorder with severe speech and ambulation defects1Oct 6, 2022
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1Mar 14, 2024
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly1Mar 14, 2024
Intellectual developmental disorder, autosomal recessive 671Dec 3, 2021
Intellectual disability, X-linked 11Oct 6, 2022
Intellectual disability, X-linked 1021Nov 4, 2021
Intellectual disability, X-linked 1041Dec 3, 2021
Intellectual disability, X-linked 491Jan 16, 2025
Intellectual disability, X-linked 631Nov 21, 2023
Intellectual disability, X-linked 99, syndromic, female-restricted2Oct 6, 2022
Intellectual disability, autosomal dominant 11Oct 6, 2022
Intellectual disability, autosomal dominant 101Nov 21, 2023
Intellectual disability, autosomal dominant 131Nov 4, 2021
Intellectual disability, autosomal dominant 141Oct 6, 2022
Intellectual disability, autosomal dominant 221Nov 4, 2021
Intellectual disability, autosomal dominant 291Oct 6, 2022
Intellectual disability, autosomal dominant 301Jan 16, 2025
Intellectual disability, autosomal dominant 341Oct 6, 2022
Intellectual disability, autosomal dominant 391Oct 6, 2022
Intellectual disability, autosomal dominant 401Jan 16, 2025
Intellectual disability, autosomal dominant 421Mar 14, 2024
Intellectual disability, autosomal dominant 452Nov 4, 2021
Intellectual disability, autosomal dominant 481Jun 17, 2021
Intellectual disability, autosomal dominant 51Jun 17, 2021
Intellectual disability, autosomal dominant 502Oct 6, 2022
Intellectual disability, autosomal dominant 512Oct 6, 2022
Intellectual disability, autosomal dominant 521Dec 3, 2021
Intellectual disability, autosomal dominant 562Mar 14, 2024
Intellectual disability, autosomal dominant 581Mar 14, 2024
Intellectual disability, autosomal dominant 61Mar 14, 2024
Intellectual disability, autosomal dominant 82Oct 6, 2022
Intellectual disability, autosomal dominant 91Nov 4, 2021
Intellectual disability, autosomal recessive 511Nov 4, 2021
Intellectual disability, autosomal recessive 531Mar 14, 2024
Intellectual disability-hypotonic facies syndrome, X-linked, 12Mar 14, 2024
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1Jun 17, 2021
KBG syndrome2Oct 6, 2022
KDM5A-associated neurodevelopmental syndrome1Jan 25, 2024
Kabuki syndrome 11Jan 16, 2025
Kabuki syndrome 21Dec 3, 2021
Keratosis palmoplantaris striata 21Oct 6, 2022
Kleefstra syndrome 21Nov 21, 2023
Koolen-de Vries syndrome1Mar 14, 2024
L-2-hydroxyglutaric aciduria2Jan 16, 2025
LEOPARD syndrome 11Jun 17, 2021
Lamb-Shaffer syndrome1Oct 6, 2022
Landau-Kleffner syndrome2Nov 21, 2023
Larsen syndrome1Nov 4, 2021
Lateral meningocele syndrome1Nov 4, 2021
Leber congenital amaurosis 82Oct 6, 2022
Leber optic atrophy1Nov 4, 2021
Left ventricular noncompaction 101Oct 6, 2022
Lethal congenital contracture syndrome 112Jul 5, 2021
Levy-Hollister syndrome1Oct 6, 2022
Linear skin defects with multiple congenital anomalies 11Oct 6, 2022
Lissencephaly 9 with complex brainstem malformation1Jan 16, 2025
Lissencephaly due to TUBA1A mutation1Jun 17, 2021
Loeys-Dietz syndrome 11Jun 17, 2021
Long QT syndrome 21Oct 6, 2022
Long QT syndrome 31Dec 3, 2021
Lucey-Driscoll syndrome1Mar 14, 2024
Luo-Schoch-Yamamoto syndrome1Mar 14, 2024
Luscan-Lumish syndrome2Oct 6, 2022
Lymphatic malformation 31Jun 17, 2021
Lynch syndrome 51Jan 16, 2025
MYH7-related skeletal myopathy1Oct 6, 2022
Macrocephaly, acquired, with impaired intellectual development1Oct 6, 2022
Malan overgrowth syndrome3Oct 6, 2022
Malaria, susceptibility to1Jun 17, 2021
Malignant hyperthermia, susceptibility to, 11Oct 6, 2022
Marfan syndrome2Mar 14, 2024
Marshall-Smith syndrome1Nov 4, 2021
Martsolf syndrome 21Oct 6, 2022
Menke-Hennekam syndrome 12Jan 16, 2025
Metachromatic leukodystrophy1Oct 6, 2022
Microcephalic osteodysplastic dysplasia, Saul-Wilson type1Dec 3, 2021
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome2Jul 5, 2021
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1Mar 14, 2024
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis1Mar 14, 2024
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome1Oct 6, 2022
Mowat-Wilson syndrome1Oct 6, 2022
Moyamoya disease 21Oct 6, 2022
Multicentric carpo-tarsal osteolysis with or without nephropathy1Oct 6, 2022
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked1Jun 17, 2021
Multiple congenital exostosis1Jun 17, 2021
Multiple cutaneous and mucosal venous malformations1Oct 6, 2022
Multiple endocrine neoplasia type 2B1Mar 14, 2024
Myofibrillar myopathy 51Mar 14, 2024
Nager syndrome1Oct 6, 2022
Neurodegeneration with ataxia and late-onset optic atrophy1Oct 6, 2022
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects1Mar 14, 2024
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies3Oct 6, 2022
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies2Mar 14, 2024
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities1Jan 16, 2025
Neurodevelopmental disorder with language impairment and behavioral abnormalities1Nov 4, 2021
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities1Nov 4, 2021
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities1Mar 14, 2024
Neurodevelopmental disorder with or without early-onset generalized epilepsy3Mar 14, 2024
Neurodevelopmental, jaw, eye, and digital syndrome2Oct 6, 2022
Neurofibromatosis, type 11Oct 6, 2022
Neuromuscular disease and ocular or auditory anomalies with or without seizures1Nov 21, 2023
Neuronopathy, distal hereditary motor, autosomal recessive 71Mar 14, 2024
Neuronopathy, distal hereditary motor, autosomal recessive 81Oct 6, 2022
Neuronopathy, distal hereditary motor, type 5A1Nov 4, 2021
Neuronopathy, distal hereditary motor, type 5B1Oct 6, 2022
Neuroocular syndrome2Mar 14, 2024
Neuropathy, hereditary motor and sensory, type 6A1Oct 6, 2022
Nicolaides-Baraitser syndrome1Nov 4, 2021
Niemann-Pick disease, type C13Jan 16, 2025
Nizon-Isidor syndrome1Nov 4, 2021
Noonan syndrome 12Nov 21, 2023
Noonan syndrome 101Oct 6, 2022
Noonan syndrome 41Oct 6, 2022
Noonan syndrome 51Nov 21, 2023
Nystagmus 1, congenital, X-linked1Oct 6, 2022
O'Donnell-Luria-Rodan syndrome1Oct 6, 2022
Occult macular dystrophy1Nov 4, 2021
Oculocerebrofacial syndrome, Kaufman type1Oct 6, 2022
Oculocutaneous albinism type 41Nov 21, 2023
Okur-Chung neurodevelopmental syndrome1Nov 4, 2021
Orofacial cleft 51Nov 4, 2021
Osteogenesis imperfecta type I1Mar 14, 2024
Osteogenesis imperfecta type III1Mar 14, 2024
Osteogenesis imperfecta with normal sclerae, dominant form1Mar 14, 2024
Osteogenesis imperfecta, perinatal lethal1Mar 14, 2024
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1Oct 6, 2022
Pancreatic cancer, susceptibility to, 31Dec 3, 2021
Parkinson disease, late-onset1Nov 4, 2021
Parkinsonian-pyramidal syndrome1Nov 21, 2023
Partial androgen insensitivity syndrome1Mar 14, 2024
Patent ductus arteriosus 21Mar 14, 2024
Periventricular nodular heterotopia 61Jan 16, 2025
Periventricular nodular heterotopia 91Jan 16, 2025
Peters plus syndrome1Oct 6, 2022
Pfeiffer syndrome1Nov 4, 2021
Phelan-McDermid syndrome1Oct 6, 2022
Pigmented paravenous retinochoroidal atrophy1Nov 4, 2021
Pilarowski-Bjornsson syndrome2Jan 16, 2025
Pitt-Hopkins syndrome2Mar 14, 2024
Pituitary hormone deficiency, combined, 21Oct 6, 2022
Polycystic kidney disease, adult type1Nov 21, 2023
Pontocerebellar hypoplasia type 1B1Oct 6, 2022
Posterior polymorphous corneal dystrophy 31Mar 14, 2024
Primary ciliary dyskinesia 181Mar 14, 2024
Primary erythromelalgia1Oct 6, 2022
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 41Oct 6, 2022
Prostate cancer1Dec 3, 2021
Prostate cancer, hereditary, 91Nov 4, 2021
Radioulnar synostosis1Jun 17, 2021
Rahman syndrome1Nov 4, 2021
Retinitis pigmentosa 121Oct 6, 2022
Retinitis pigmentosa 31Nov 4, 2021
Retinitis pigmentosa 371Oct 6, 2022
Retinitis pigmentosa 381Mar 14, 2024
Rett syndrome2Mar 14, 2024
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked1Oct 6, 2022
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency3Oct 6, 2022
SIN3A-related intellectual disability syndrome due to a point mutation2Nov 4, 2021
STING-associated vasculopathy with onset in infancy1Oct 6, 2022
Seizures, benign familial infantile, 21Nov 4, 2021
Seizures, benign familial neonatal, 21Nov 4, 2021
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1Nov 4, 2021
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome2Jan 16, 2025
Severe intellectual disability-progressive spastic diplegia syndrome1Jun 17, 2021
Short stature-pituitary and cerebellar defects-small sella turcica syndrome1Oct 6, 2022
Smith-McCort dysplasia 21Jan 16, 2025
Snijders Blok-Campeau syndrome5Mar 14, 2024
Sotos syndrome1Oct 6, 2022
Spinocerebellar ataxia type 131Nov 4, 2021
Spinocerebellar ataxia type 19/221Jan 16, 2025
Spinocerebellar ataxia type 282Dec 3, 2021
Spinocerebellar ataxia type 401Oct 6, 2022
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21Oct 6, 2022
Split hand-foot malformation 61Dec 18, 2024
Spondyloperipheral dysplasia1Nov 4, 2021
Stickler syndrome type 11Oct 6, 2022
Stickler syndrome, type I, nonsyndromic ocular1Mar 14, 2024
Succinate-semialdehyde dehydrogenase deficiency1Nov 4, 2021
Symphalangism, proximal, 1B1Nov 4, 2021
Syndromic X-linked intellectual disability Claes-Jensen type2Nov 4, 2021
Thrombocytopenia 51Dec 3, 2021
Thrombophilia due to activated protein C resistance1Oct 6, 2022
Thyroid dyshormonogenesis 62Jul 5, 2021
Tibial muscular dystrophy1Dec 3, 2021
Timothy syndrome1Nov 4, 2021
Tolchin-Le Caignec syndrome1Oct 6, 2022
Tooth agenesis, selective, 41Nov 4, 2021
Tremor, hereditary essential, 51Nov 4, 2021
Ullrich congenital muscular dystrophy 1A1Nov 21, 2023
Usher syndrome type 2A1Nov 4, 2021
Usmani-Riazuddin syndrome, autosomal dominant1Mar 14, 2024
Variegate porphyria1Nov 21, 2023
Wiedemann-Steiner syndrome1Oct 6, 2022
Williams syndrome1Dec 3, 2021
Wolfram syndrome 11Jun 17, 2021
Wolfram-like syndrome1Oct 6, 2022
X-linked cone-rod dystrophy 11Oct 6, 2022
X-linked ichthyosis with steryl-sulfatase deficiency1Jan 16, 2025
not provided1Jan 16, 2025