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Items: 1 to 100 of 171

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTR1B, ADRA2B
+331 more
Copy number gain
See cases
GPathogenic
ACTR1B, ADRA2B
+550 more
Copy number gain
See cases
GPathogenic
LOC129934355, LOC129934356
+348 more
Copy number gain
See cases
GPathogenic
ACTR1B, ADRA2B
+207 more
Copy number gain
See cases
GUncertain significance
ACTR1B, ANKRD36B
+32 more
Copy number gain
See cases
GLikely benign
AFF3, C2orf15
+373 more
Copy number gain
See cases
GPathogenic
VWA3B
(S7F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(L42M)
Single nucleotide variant
(missense variant +1 more)
VWA3B-related disorder
GLikely benign
VWA3B
(H43R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
VWA3B
(K46R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(I55F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(P62S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(Y67H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
VWA3B
(P74S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(D81G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(E91K)
Single nucleotide variant
(missense variant +1 more)
VWA3B-related disorder
GLikely benign
VWA3B
(G93C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(Y119H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(R131W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(G135S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(L146R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(R160Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
VWA3B
(M165L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(M165V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(R181W)
Single nucleotide variant
(missense variant +1 more)
VWA3B-related disorder
GBenign
VWA3B
(V182I)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia, autosomal recessive 22
+1 more
GUncertain significance
VWA3B
(T212M)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
VWA3B
Single nucleotide variant
(synonymous variant +1 more)
VWA3B-related disorder
GLikely benign
VWA3B
(V213I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(E219*)
Single nucleotide variant
(nonsense +1 more)
not provided
GBenign/Likely benign
VWA3B
(E219V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(R222H)
Single nucleotide variant
(missense variant +1 more)
VWA3B-related disorder
+1 more
GBenign/Likely benign
VWA3B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
VWA3B
(G230R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
VWA3B
(S237T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(I238L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
VWA3B
(I278T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126806278, VWA3B
Single nucleotide variant
(synonymous variant +1 more)
VWA3B-related disorder
GLikely benign
LOC126806278, VWA3B
(E297K)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
LOC126806278, VWA3B
(V302A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126806278, VWA3B
(K326R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(R334fs)
Deletion
(5 prime UTR variant +2 more)
not specified
GUncertain significance
VWA3B
(D336G)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
VWA3B
(V340I)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GLikely benign
VWA3B
(T350M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
VWA3B
(V15M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
VWA3B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
VWA3B
(P19S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(D22N +1 more)
Single nucleotide variant
(missense variant +1 more)
VWA3B-related disorder
+1 more
GBenign
VWA3B
(V366M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(E29* +1 more)
Single nucleotide variant
(nonsense +1 more)
VWA3B-related disorder
GBenign
VWA3B
(E379Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(S39L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign/Likely benign
VWA3B
(Y397* +1 more)
Single nucleotide variant
(nonsense +1 more)
Spinocerebellar ataxia, autosomal recessive 22
GPathogenic/Likely pathogenic
VWA3B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
VWA3B
(H417L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
VWA3B
(A418T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(V421F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(P428L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
VWA3B
(V433M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(S93G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(P456L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
VWA3B
(S133C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3B
(W149R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(Y167C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(R214Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
VWA3B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
VWA3B
(D223V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(N567D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(Q229* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GBenign
VWA3B
(R233G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
Single nucleotide variant
(intron variant)
VWA3B-related disorder
GBenign
VWA3B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
VWA3B
(T256K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(D264N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
Single nucleotide variant
(intron variant)
VWA3B-related disorder
GBenign
VWA3B
(E272V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(D619V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(K622T +1 more)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia, autosomal recessive 22
GPathogenic
VWA3B
(R623H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(F644Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(V648I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(L334V +1 more)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia, autosomal recessive 22
GBenign
VWA3B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
VWA3B
(M704I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(D370V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
VWA3B
(D740N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(T742A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(N405S +1 more)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia, autosomal recessive 22
+1 more
GUncertain significance
VWA3B
(K422E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
VWA3B
(R459Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
VWA3B
(M811T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(V485L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
VWA3B
(T829M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VWA3B
(W505R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
Display optionsSort by LocationDownload
Format
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