ClinVar for MedGen (Select 90991) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234072	NM_000273.3(GPR143):c.706A>G (p.Arg236Gly)	GPR143 (R236G)	Single nucleotide variant (missense variant)	Ocular albinism, type I	GUncertain significance
Select item 2580351	GRCh37/hg19 Xp22.2(chrX:9702717-9709328)x0	GPR143	Copy number loss	Ocular albinism, type I	GPathogenic
Select item 1805629	NM_000273.3(GPR143):c.36del (p.Thr13fs)	GPR143 (T13fs)	Deletion (frameshift variant)	Ocular albinism, type I	GPathogenic
Select item 1687233	NM_000273.3(GPR143):c.456-5_463del	GPR143	Deletion (splice acceptor variant)	Ocular albinism, type I	GLikely pathogenic
Select item 1527939	NM_000273.3(GPR143):c.548+2T>C	GPR143	Single nucleotide variant (splice donor variant)	Ocular albinism, type I	GPathogenic
Select item 1357186	NM_000273.3(GPR143):c.191C>T (p.Pro64Leu)	GPR143 (P64L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1323033	NM_000273.3(GPR143):c.73C>T (p.Gln25Ter)	GPR143 (Q25*)	Single nucleotide variant (nonsense)	Ocular albinism, type I +1 more	GPathogenic
Select item 1308636	NM_000273.3(GPR143):c.360+2T>C	GPR143	Single nucleotide variant (splice donor variant)	Ocular albinism, type I	GPathogenic
Select item 1213999	NM_000273.3(GPR143):c.361-2A>C	GPR143	Single nucleotide variant (splice acceptor variant)	Ocular albinism, type I	GPathogenic
Select item 1184536	NM_000273.3(GPR143):c.346T>G (p.Cys116Gly)	GPR143 (C116G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1184535	NM_000273.3(GPR143):c.767+1G>A	GPR143	Single nucleotide variant (splice donor variant)	Ocular albinism, type I	GLikely pathogenic
Select item 1012853	NM_000273.3(GPR143):c.935G>T (p.Gly312Val)	GPR143 (G312V)	Single nucleotide variant (missense variant)	Ocular albinism, type I +1 more	GLikely pathogenic
Select item 915839	NM_000273.3(GPR143):c.548+2T>A	GPR143	Single nucleotide variant (splice donor variant)	Ocular albinism, type I +1 more	GPathogenic/Likely pathogenic
Select item 373941	NM_000273.3(GPR143):c.12_36del (p.Leu6fs)	GPR143 (L6fs)	Deletion (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 255712	NM_000273.3(GPR143):c.767+10C>G	GPR143	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 162039	NM_000273.3(GPR143):c.223dup (p.Ala75fs)	GPR143 (A75fs)	Duplication (frameshift variant)	Ocular albinism, type I	GLikely pathogenic
Select item 98650	NM_000273.3(GPR143):c.885+1G>A	GPR143	Single nucleotide variant (splice donor variant)	Ocular albinism, type I	GLikely pathogenic
Select item 98643	NM_000273.3(GPR143):c.756_767+2del	GPR143	Deletion (splice donor variant)	Ocular albinism, type I	GPathogenic
Select item 98632	NM_000273.3(GPR143):c.371A>G (p.Gln124Arg)	GPR143 (Q124R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 98631	NM_000273.3(GPR143):c.360G>A (p.Ala120=)	GPR143	Single nucleotide variant (synonymous variant)	Ocular albinism, type I +1 more	GLikely pathogenic
Select item 98619	NM_000273.3(GPR143):c.216_232del (p.Ala73fs)	GPR143 (A73fs)	Deletion (frameshift variant)	Ocular albinism, type I	GPathogenic
Select item 29984	NC_000023.9:g.9688757-?_9693917+?del	GPR143	Deletion	Ocular albinism, type I	GPathogenic
Select item 10521	NM_000273.3(GPR143):c.104G>A (p.Gly35Asp)	GPR143 (G35D)	Single nucleotide variant (missense variant)	Ocular albinism, type I	GPathogenic
Select item 10519	NM_000273.3(GPR143):c.397T>A (p.Trp133Arg)	GPR143 (W133R)	Single nucleotide variant (missense variant)	Ocular albinism, type I	GPathogenic
Select item 10518	NM_000273.3(GPR143):c.695C>A (p.Thr232Lys)	GPR143 (T232K)	Single nucleotide variant (missense variant)	Ocular albinism, type I	GPathogenic
Select item 10517	NM_000273.3(GPR143):c.455G>A (p.Ser152Asn)	GPR143 (S152N)	Single nucleotide variant (missense variant)	Ocular albinism, type I	GUncertain significance
Select item 10516	NM_000273.3(GPR143):c.397T>C (p.Trp133Arg)	GPR143 (W133R)	Single nucleotide variant (missense variant)	Ocular albinism, type I	GPathogenic
Select item 10514	NM_000273.3(GPR143):c.933_934dup (p.Gly312fs)	GPR143 (G312fs)	Duplication (frameshift variant)	Ocular albinism, type I	GPathogenic

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Items: 28