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Links from Gene

Items: 1 to 100 of 111

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GJB4
(M190T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB4
(R22C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB4
(V52A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(R103P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(P180S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(H73Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(P114L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(D232N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(A140T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(R32P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(S257L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB4
(I23M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(R223W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(I196V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(P170S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(R98H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(R75S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(C169*)
Single nucleotide variant
(nonsense)
Erythrokeratodermia variabilis et progressiva 2
GUncertain significance
GJB4
Deletion
(nonsense +1 more)
Erythrokeratodermia variabilis et progressiva 2
GUncertain significance
GJB4
Single nucleotide variant
(synonymous variant)
GJB4-related disorder
GLikely benign
GJB4
(G218D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB4
(V84F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB4
(H171N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GJB4
(R32C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB4
Deletion
(inframe_deletion)
not provided
GUncertain significance
GJB4
(V95M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
A3GALT2, ACOT11
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
GJB4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GJB4
(H150R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(W3R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(C213R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB4
(R227Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(V166M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(I30T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(E41K)
Single nucleotide variant
(missense variant)
Erythrokeratodermia variabilis et progressiva 2
GUncertain significance
GJB4
(V52I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB4
(H105R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(V63I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB4
(V162M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(E47K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(P170L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(G144V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(E102K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GJB4
(K184N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(S250C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(S21N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(H244Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJB4
(V33A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB4
(V13M)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
GJB4
(R160H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ADPRS, AGO1
+32 more
Copy number loss
not provided
GPathogenic
GJB4
(A255P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB4
(V43A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB4
(I196T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB4
(M190L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
GJB4
(R103C)
Single nucleotide variant
(missense variant)
not provided
GBenign
GJB4
(C60G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
GJB4
(T181M)
Single nucleotide variant
(missense variant)
not provided
GBenign
GJB4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
A3GALT2, ADPRS
+202 more
Copy number gain
not specified
GPathogenic
GJB4
(S72F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB4
(R98C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GJB4
(V52fs)
Deletion
(frameshift variant)
not provided
GBenign
GJB4
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
GJB4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GJB4
Single nucleotide variant
(intron variant)
not provided
GBenign
GJB4
(R151S)
Single nucleotide variant
(missense variant)
not provided
GBenign
GJB4
(R124W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJB4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GJB4
(Q80*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GBenign/Likely benign
GJB4
(R75H)
Single nucleotide variant
(missense variant)
not provided
GBenign
GJB4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GJB4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GJB4
(F69L)
Single nucleotide variant
(missense variant)
not provided
GBenign
GJB4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GJB4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GJB4
(W128*)
Single nucleotide variant
(nonsense)
not provided
GConflicting classifications of pathogenicity
GJB4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GJB4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GJB4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GJB4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GJB4
(R75C)
Single nucleotide variant
(missense variant)
not provided
GBenign
GJB4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GJB4
(R124Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
GJB4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GJB4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GJB4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GJB4
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
DLGAP3, GJA4
+13 more
Copy number gain
not provided
GUncertain significance
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
YARS1, ZBTB8A
+41 more
Copy number loss
not provided
GPathogenic
KCNQ4, KDM4A
+179 more
Duplication
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
GJB4
(W129*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GConflicting classifications of pathogenicity
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ADPRS, AGO1
+31 more
Copy number loss
See cases
GPathogenic
GJB4
(C169W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
GJB4
(V37M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GJB4
(F51fs)
Deletion
(frameshift variant)
Erythrokeratodermia variabilis et progressiva 2
+2 more
GBenign/Likely benign
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