Related gene-specific medical variations for Gene (Select 4935) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1238273	NM_000273.3(GPR143):c.1120+152C>T	GPR143, LOC130067929	Single nucleotide variant (intron variant)	not provided	GBenign
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 98651	NM_000273.3(GPR143):c.931_932insCG (p.Tyr311fs)	GPR143 (Y311fs)	Insertion (frameshift variant)	not provided	Gnot provided
Select item 98648	NM_000273.3(GPR143):c.876G>A (p.Trp292Ter)	GPR143 (W292*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 98646	NM_000273.3(GPR143):c.870_872del (p.Thr291del)	GPR143 (T291del)	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 98645	NM_000273.3(GPR143):c.812A>G (p.Glu271Gly)	GPR143 (E271G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98644	NM_000273.3(GPR143):c.779A>T (p.Asn260Ile)	GPR143 (N260I)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98642	NM_000273.3(GPR143):c.730A>G (p.Ile244Val)	GPR143 (I244V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98641	NM_000273.3(GPR143):c.705G>A (p.Glu235=)	GPR143	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98640	NM_000273.3(GPR143):c.697G>A (p.Glu233Lys)	GPR143 (E233K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98637	NM_000273.3(GPR143):c.518C>A (p.Ala173Asp)	GPR143 (A173D)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98636	NM_000273.3(GPR143):c.455+1G>C	GPR143	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 98635	NM_000273.3(GPR143):c.444_445insAGATCGG (p.Ala149fs)	GPR143 (A149fs)	Insertion (frameshift variant)	not provided	Gnot provided
Select item 98633	NM_000273.3(GPR143):c.402del (p.Cys136fs)	GPR143 (C136fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 98627	NM_000273.3(GPR143):c.347G>C (p.Cys116Ser)	GPR143 (C116S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98625	NM_000273.3(GPR143):c.310del (p.Asp104fs)	GPR143 (D104fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 98623	NM_000273.3(GPR143):c.251-1G>C	GPR143	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 98622	NM_000273.3(GPR143):c.250G>C (p.Gly84Arg)	GPR143 (G84R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98621	NM_000273.3(GPR143):c.233A>T (p.Asp78Val)	GPR143 (D78V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98618	NM_000273.3(GPR143):c.175del (p.Ser59fs)	GPR143 (S59fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 98617	NM_000273.3(GPR143):c.174_175insC (p.Ser59fs)	GPR143 (S59fs)	Insertion (frameshift variant)	not provided	Gnot provided
Select item 98615	NM_000273.3(GPR143):c.155_161del (p.Arg52fs)	GPR143 (R52fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 98613	NM_000273.3(GPR143):c.116T>G (p.Leu39Arg)	GPR143 (L39R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 29984	NC_000023.9:g.9688757-?_9693917+?del	GPR143	Deletion	Ocular albinism, type I	GPathogenic

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Links from Gene

Items: 24