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Items: 1 to 100 of 23356

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSH6
(L1201V +5 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colon cancer
+1 more
GLikely pathogenic
APOL1
(I400M +5 more)
Single nucleotide variant
(missense variant)
Hyalinosis, Segmental Glomerular
Grisk factor
MYO15A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MYH9
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
LARS2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
KARS1
(N425T +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HSD17B4
Single nucleotide variant
(synonymous variant +2 more)
Bifunctional peroxisomal enzyme deficiency
+2 more
GLikely benign
EYA4, TARID
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
ESPN
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
VCL
Deletion
(intron variant +1 more)
not specified
GUncertain significance
USH1G
(M161L +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
USH1G
(E290D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NDE1
(R44*)
Single nucleotide variant
(nonsense)
NDE1-related disorder
+1 more
GConflicting classifications of pathogenicity
MYO7A
(A1551V)
Single nucleotide variant
(intron variant +1 more)
not specified
+1 more
GUncertain significance
MYO7A
(D207H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO3A
Deletion
(intron variant)
not specified
GUncertain significance
MYO15A
(V1488I)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MYH9
(R1726H)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
LOXHD1
(V2177A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRV1
(G5337E)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GUncertain significance
ADGRV1
(M3249T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADGRV1
(R762H)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
EVC2
Deletion
(intron variant +1 more)
Ellis-van Creveld syndrome
+1 more
GLikely pathogenic
LOXHD1
(E1349* +2 more)
Single nucleotide variant
(nonsense)
Rare genetic deafness
GLikely pathogenic
OTOG
(Q1836* +1 more)
Single nucleotide variant
(nonsense)
Nonsyndromic genetic hearing loss
GLikely pathogenic
MBOAT7
(L158fs +1 more)
Duplication
(frameshift variant)
Intellectual disability, autosomal recessive 57
GPathogenic/Likely pathogenic
ABCG5, DYNC2LI1
(Q251*)
Single nucleotide variant
(nonsense +1 more)
Sitosterolemia 2
+2 more
GPathogenic
DUOX2
Single nucleotide variant
(splice acceptor variant)
Congenital hypothyroidism
GLikely pathogenic
CPLANE1
(L663fs)
Duplication
(frameshift variant)
Familial aplasia of the vermis
GLikely pathogenic
COL18A1
(G446fs +2 more)
Microsatellite
(frameshift variant)
Knobloch syndrome
GLikely pathogenic
ASXL1
(K462* +1 more)
Single nucleotide variant
(nonsense)
Bohring-Opitz syndrome
GLikely pathogenic
CLPP
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
CDC14A
(A11T)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GConflicting classifications of pathogenicity
ALMS1
(H687Y +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ADGRV1
(M5441V)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GLikely benign
STRC
(L18del)
Microsatellite
(inframe_deletion)
Autosomal recessive nonsyndromic hearing loss 16
+2 more
GBenign
TRIOBP
(R2083H +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TRIOBP
(R1930W +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TMC1
(K731R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBCEL-TECTA, TECTA
(E1551K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TBCEL-TECTA, TECTA
(T1318A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LAMA4
(A616T +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
KCNE1
(S74P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
IMPG1
(Q225* +1 more)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
IMPG1
(R521* +1 more)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
HOXA2
(S17*)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
HNF1A
(T82M)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
HGF
(H443R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TCTN3
(C344fs +1 more)
Deletion
(frameshift variant)
Joubert syndrome 18
+2 more
GUncertain significance
STRC
(R832Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC26A4, SLC26A4-AS1
Single nucleotide variant
not specified
GUncertain significance
PRDM16
Deletion
not specified
GUncertain significance
PJVK
(M160V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PJVK
(M1V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
COL4A5
(A520V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL4A3, MFF-DT
(E1084V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL11A2
(P831S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POMT1
(Q267* +9 more)
Single nucleotide variant
(nonsense +1 more)
Walker-Warburg congenital muscular dystrophy
+1 more
GPathogenic
STRC
(P154fs)
Deletion
(frameshift variant)
Rare genetic deafness
GPathogenic
STRC
(L786fs)
Deletion
(frameshift variant)
Rare genetic deafness
GPathogenic
AMHR2
(V15fs)
Deletion
(frameshift variant)
Persistent Mullerian duct syndrome
GLikely pathogenic
ALMS1
(K553fs +1 more)
Deletion
(frameshift variant)
Alstrom syndrome
GLikely pathogenic
AGPS
(E346fs)
Deletion
(frameshift variant)
Rhizomelic chondrodysplasia punctata type 3
GLikely pathogenic
AGL
(R1131* +6 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease type III
GLikely pathogenic
ADAMTSL4, ADAMTSL4-AS2
(S571* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
SCNN1G
(R440*)
Single nucleotide variant
(nonsense)
Autosomal recessive pseudohypoaldosteronism type 1
GLikely pathogenic
TRIP11
(R1027* +1 more)
Single nucleotide variant
(nonsense)
Achondrogenesis, type IA
GLikely pathogenic
WFS1
Single nucleotide variant
(synonymous variant)
WFS1-related disorder
+2 more
GLikely benign
WFS1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
SLITRK6
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
SLITRK6
(I257V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GRHL3
(D55E +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
HSALR1, PIEZO1
Single nucleotide variant
(splice donor variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PCDH15
(E1122D +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OTOG
(R141Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH23
(T670S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CDH23
(C387Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CACNA1D
(I805T +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CACNA1D
(N25S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCS1L
(S65R)
Single nucleotide variant
(missense variant +3 more)
Mitochondrial complex III deficiency nuclear type 1
+3 more
GUncertain significance
ATP6V1B1
(V224I)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
USH2A
Deletion
Usher syndrome
GLikely pathogenic
SECISBP2
Single nucleotide variant
(splice donor variant)
Thyroid hormone metabolism, abnormal 1
GLikely pathogenic
OTOGL
Single nucleotide variant
(splice acceptor variant)
Rare genetic deafness
GLikely pathogenic
OTOGL
(W1011* +1 more)
Single nucleotide variant
(nonsense)
Rare genetic deafness
GLikely pathogenic
SERPINB6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
S1PR2
(A225T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
POU3F4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
OTOGL
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
OTOA
(D394G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
MYO15A
(R2588W)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
LOXHD1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
HARS1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
ALPL
(Y101* +2 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
PDZD7
(P505T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SPTA1
Single nucleotide variant
(intron variant)
Elliptocytosis 2
+5 more
GPathogenic
AURKC
(Y214* +2 more)
Single nucleotide variant
(nonsense)
Male infertility with spermatogenesis disorder
+1 more
GPathogenic
WHRN
(A126T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CDH23
(I1890F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH23
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
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