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Items: 1 to 100 of 210

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129929733, LOC129929734
+1145 more
Copy number gain
See cases
GPathogenic
ARTN, ATP6V0B
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
AGO1, AGO3
+70 more
Copy number loss
See cases
GLikely pathogenic
GJB3
Single nucleotide variant
Erythrokeratodermia variabilis et progressiva 1
GUncertain significance
GJB3
Single nucleotide variant
(5 prime UTR variant)
Erythrokeratodermia variabilis et progressiva 1
GUncertain significance
GJB3
Single nucleotide variant
(5 prime UTR variant)
Erythrokeratodermia variabilis et progressiva 1
GUncertain significance
GJB3
Single nucleotide variant
(5 prime UTR variant)
Erythrokeratodermia variabilis et progressiva 1
GBenign
GJB3
Single nucleotide variant
(5 prime UTR variant)
Erythrokeratodermia variabilis et progressiva 1
GUncertain significance
GJB3
Single nucleotide variant
(5 prime UTR variant)
Erythrokeratodermia variabilis et progressiva 1
GUncertain significance
GJB3
Single nucleotide variant
(5 prime UTR variant)
Erythrokeratodermia variabilis et progressiva 1
GUncertain significance
GJB3
Single nucleotide variant
(5 prime UTR variant)
Erythrokeratodermia variabilis et progressiva 1
GUncertain significance
GJB3
Single nucleotide variant
(5 prime UTR variant)
Erythrokeratodermia variabilis et progressiva 1
GUncertain significance
GJB3
Single nucleotide variant
(5 prime UTR variant)
Erythrokeratodermia variabilis et progressiva 1
GUncertain significance
GJB3
Single nucleotide variant
(5 prime UTR variant)
Erythrokeratodermia variabilis et progressiva 1
GUncertain significance
GJB3
Single nucleotide variant
(5 prime UTR variant)
Erythrokeratodermia variabilis et progressiva 1
GUncertain significance
GJB3
Single nucleotide variant
(5 prime UTR variant)
Erythrokeratodermia variabilis et progressiva 1
GUncertain significance
GJB3
Single nucleotide variant
(5 prime UTR variant)
Erythrokeratodermia variabilis et progressiva 1
GUncertain significance
GJB3
Single nucleotide variant
(5 prime UTR variant)
Erythrokeratodermia variabilis et progressiva 1
+1 more
GBenign
GJB3
Single nucleotide variant
(5 prime UTR variant)
Erythrokeratodermia variabilis et progressiva 1
GUncertain significance
GJB3
Single nucleotide variant
(5 prime UTR variant)
Erythrokeratodermia variabilis et progressiva 1
GUncertain significance
GJB3
Single nucleotide variant
(5 prime UTR variant)
Erythrokeratodermia variabilis et progressiva 1
GBenign
GJB3
Single nucleotide variant
(intron variant)
not provided
GBenign
GJB3
Single nucleotide variant
(5 prime UTR variant)
Erythrokeratodermia variabilis et progressiva 1
GLikely benign
GJB3
Single nucleotide variant
(5 prime UTR variant)
not specified
+2 more
GConflicting classifications of pathogenicity
GJB3
Single nucleotide variant
(5 prime UTR variant)
Erythrokeratodermia variabilis et progressiva 1
+1 more
GConflicting classifications of pathogenicity
GJB3
(W3*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 1A
GPathogenic
GJB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GJB3
(G12S)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GJB3
(G12R)
Single nucleotide variant
(missense variant)
Erythrokeratodermia variabilis et progressiva 1
GPathogenic
GJB3
(G12D)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GJB3
(T18I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GJB3
(G21R)
Single nucleotide variant
(missense variant)
Erythrokeratodermia variabilis et progressiva 1
+1 more
GConflicting classifications of pathogenicity
GJB3
(R22C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GJB3
(R22L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB3
(R22H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
(V27M)
Single nucleotide variant
(missense variant)
Erythrokeratodermia variabilis et progressiva 1
+1 more
GUncertain significance
GJB3
Single nucleotide variant
(synonymous variant)
GJB3-related disorder
GLikely benign
GJB3
(R32W)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
GJB3
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
GJB3
(L34P)
Single nucleotide variant
(missense variant)
Erythrokeratodermia variabilis et progressiva 1
GPathogenic
GJB3
(V35A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
Single nucleotide variant
(synonymous variant)
GJB3-related disorder
GLikely benign
GJB3
(V37L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
(V37M)
Single nucleotide variant
(missense variant)
GJB3-related disorder
+2 more
GBenign/Likely benign
GJB3
(V37E)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GJB3
(E41D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
(R42P)
Single nucleotide variant
(missense variant)
Erythrokeratodermia variabilis et progressiva 1
GPathogenic
GJB3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GUncertain significance
GJB3
(W44fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
GJB3
(W44R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
(W44S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
(W44*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
GJB3
(G45A)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GJB3
(D52E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB3
(N54T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
Single nucleotide variant
(synonymous variant)
Erythrokeratodermia variabilis et progressiva 1
GLikely benign
GJB3
(K56Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GJB3
(G59S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GJB3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
GJB3
(V63I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GJB3
(D66del)
Deletion
(inframe_deletion)
Hearing impairment
+2 more
GConflicting classifications of pathogenicity
GJB3
(D66N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
(D66G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GJB3
(N73K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
(R75C)
Single nucleotide variant
(missense variant)
GJB3-related disorder
+3 more
GConflicting classifications of pathogenicity
GJB3
(R75H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
(A78D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GJB3
(Q80R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB3
(L81V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GJB3
(F83L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
Single nucleotide variant
(synonymous variant)
Erythrokeratodermia variabilis et progressiva 1
GUncertain significance
GJB3
(V84I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
GJB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GJB3
(C86S)
Single nucleotide variant
(missense variant)
Erythrokeratodermia variabilis et progressiva 1
GPathogenic
GJB3
(C86*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
GJB3
(S88A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
Single nucleotide variant
(synonymous variant)
GJB3-related disorder
+3 more
GBenign/Likely benign
GJB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GJB3
(V95M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
(R98S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
(R98C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
(R98H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GJB3
(E99K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GJB3
(E100K)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GJB3
(R101Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
(R104Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
(H105N)
Single nucleotide variant
(missense variant)
GJB3-related disorder
+2 more
GBenign/Likely benign
GJB3
(R106C)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 2B
+3 more
GConflicting classifications of pathogenicity
GJB3
(R106H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GJB3
(Q107H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
(H109N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
(G110R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB3
(Q112K)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
GJB3
(Q112R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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