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Items: 1 to 100 of 304

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPR143
(H401Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
(L398P)
Single nucleotide variant
(missense variant)
not provided
GBenign
GPR143
(L398F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
(A397S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPR143
(K391E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
(S386N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GPR143
(S386G)
Single nucleotide variant
(missense variant)
GPR143-related disorder
+1 more
GUncertain significance
GPR143
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GPR143
(T384S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
(T384I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
(I382N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
(I380T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
(S378N)
Single nucleotide variant
(missense variant)
not provided
GBenign
GPR143
(A377V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPR143
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPR143
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
GPR143
Single nucleotide variant
(intron variant)
not provided
GBenign
GPR143
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPR143
Deletion
(intron variant)
not provided
GLikely benign
GPR143
Single nucleotide variant
(intron variant)
not provided
GBenign
GPR143
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPR143
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPR143
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPR143
(T363N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPR143
(G360D)
Single nucleotide variant
(missense variant)
not provided
GBenign
GPR143
(G360S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
GPR143
(V356A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
(G354R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GPR143
(E349K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
GPR143
(M346V)
Single nucleotide variant
(missense variant)
not provided
GBenign
GPR143
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPR143
(P344L)
Single nucleotide variant
(missense variant)
not provided
GBenign
GPR143
(P344T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
(A340T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
(A337D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GPR143
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPR143
(S331L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPR143
(W329*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GPR143
Deletion
(splice acceptor variant)
not provided
GLikely pathogenic
GPR143
(S317I)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
GPR143
(C316Y)
Single nucleotide variant
(missense variant)
Nystagmus 6, congenital, X-linked
+1 more
GUncertain significance
GPR143
(W313*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GPR143
(W313*)
Single nucleotide variant
(nonsense)
GPR143-related foveal hypoplasia
+1 more
GPathogenic
GPR143
(Y311*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GPR143
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPR143
(G303V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPR143
(N299T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
(G296V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPR143
Single nucleotide variant
(intron variant)
not provided
GPathogenic
GPR143
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPR143
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GPR143
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
GPR143
Deletion
(splice donor variant)
not provided
GPathogenic
GPR143
(W292C)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GPR143
(W292G)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GPR143
(A288P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
(A287T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPR143
(I276S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
(D275G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GPR143
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPR143
(E264K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPR143
(S259L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
Deletion
(splice acceptor variant)
not provided
GPathogenic
GPR143
Duplication
(splice acceptor variant)
not provided
GBenign
GPR143
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GPR143
Microsatellite
(intron variant)
not provided
GLikely benign
GPR143
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPR143
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPR143
Single nucleotide variant
(intron variant)
Ocular albinism, type I
+3 more
GBenign
GPR143
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPR143
(C256fs)
Deletion
(frameshift variant)
not provided
GPathogenic
GPR143
(L251V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GPR143
(K248*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GPR143
(R245*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GPR143
(I244fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
GPR143
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPR143
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPR143
(V241M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPR143
(R237G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
(E235K)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GPR143
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPR143
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPR143
(T232M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GPR143
(Y231H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPR143
(Q228*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GPR143
(S222P)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
GPR143
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GPR143
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
GPR143
(A219V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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