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Links from Gene

Items: 1 to 100 of 316

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AK9, AMD1
+70 more
Copy number loss
not provided
GPathogenic
GJA1
(G60A)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
GLikely pathogenic
GJA1
(L356I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GJA1
(T154A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GPathogenic
GJA1
(P377S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJA1
(Y230*)
Single nucleotide variant
(nonsense)
Oculodentodigital dysplasia
GLikely pathogenic
ABRACL, ADAT2
+155 more
Copy number gain
not specified
GPathogenic
AKAP7, AMD1
+87 more
Copy number gain
not specified
GLikely pathogenic
GJA1
(S180I)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(N318H)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(I176M)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(N294K)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(I156V)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(E352V)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(E110K)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(G120A)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(L228F)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(E62K)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(K303R)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(P246T)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(K237N)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(K144*)
Single nucleotide variant
(nonsense)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(H95Y)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(P284del)
Microsatellite
(inframe_deletion)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(D245N)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(Y66C)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(G138V)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(A249V)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(T326I)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(V96A)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(R76C)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely pathogenic
GJA1
(V41L)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely pathogenic
GJA1
(D292V)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(V359M)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(L11H)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GPathogenic
GJA1
(V219L)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
AHI1, AKAP7
+69 more
Copy number loss
not provided
GPathogenic
GJA1
(E381A)
Single nucleotide variant
(missense variant)
GJA1-related disorder
GUncertain significance
GJA1
(R376W)
Single nucleotide variant
(missense variant)
GJA1-related disorder
GUncertain significance
GJA1
(I226V)
Single nucleotide variant
(missense variant)
GJA1-related disorder
GUncertain significance
GJA1
(S201F)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia
GPathogenic
GJA1
(S344C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ARHGAP18, ASF1A
+316 more
Copy number loss
Intellectual disability, autosomal dominant 55, with seizures
GPathogenic
ASF1A, CALHM4
+39 more
Copy number loss
6q terminal deletion syndrome
GLikely pathogenic
GJA1
(V215L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJA1
(K13E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(S373T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(A276T)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(D292G)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(G38E)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
+1 more
GPathogenic/Likely pathogenic
GJA1
(A168G)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(R53H)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(R101Q)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(T154N)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely pathogenic
GJA1
(T154I)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GJA1
(S372G)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(S182N)
Single nucleotide variant
(missense variant)
GJA1-related disorder
+1 more
GUncertain significance
GJA1
(A51G)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(R319Q)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(H331L)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(D379E)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(I327M)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Duplication
(inframe_insertion)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(R153Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(G149R)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(K134N)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(K287N)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
(L278F)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
+1 more
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(V121I)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(F165L)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
GJA1
Single nucleotide variant
(synonymous variant)
Oculodentodigital dysplasia, autosomal recessive
GLikely benign
GJA1
(P284L)
Single nucleotide variant
(missense variant)
Oculodentodigital dysplasia, autosomal recessive
GUncertain significance
CLVS2, FABP7
+16 more
Copy number loss
not provided
Gnot provided
CLVS2, FABP7
+8 more
Copy number gain
not provided
GUncertain significance
ARHGAP18, C6orf58
+27 more
Copy number loss
not provided
GUncertain significance
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