GPR143[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1294751	NM_000273.3(GPR143):c.*134C>T	GPR143	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1438717	NM_000273.3(GPR143):c.1203T>G (p.His401Gln)	GPR143 (H401Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3282221	NM_000273.3(GPR143):c.1202A>G (p.His401Arg)	GPR143 (H401R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1169666	NM_000273.3(GPR143):c.1193T>C (p.Leu398Pro)	GPR143 (L398P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1907595	NM_000273.3(GPR143):c.1192C>T (p.Leu398Phe)	GPR143 (L398F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798198	NM_000273.3(GPR143):c.1189G>T (p.Ala397Ser)	GPR143 (A397S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1155641	NM_000273.3(GPR143):c.1182T>C (p.Gly394=)	GPR143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2118864	NM_000273.3(GPR143):c.1171A>G (p.Lys391Glu)	GPR143 (K391E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058588	NM_000273.3(GPR143):c.1157G>A (p.Ser386Asn)	GPR143 (S386N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2071134	NM_000273.3(GPR143):c.1156A>G (p.Ser386Gly)	GPR143 (S386G)	Single nucleotide variant (missense variant)	GPR143-related disorder +1 more	GUncertain significance
Select item 1166084	NM_000273.3(GPR143):c.1155A>C (p.Ala385=)	GPR143	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2880336	NM_000273.3(GPR143):c.1151C>G (p.Thr384Ser)	GPR143 (T384S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505115	NM_000273.3(GPR143):c.1151C>T (p.Thr384Ile)	GPR143 (T384I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2757737	NM_000273.3(GPR143):c.1145T>A (p.Ile382Asn)	GPR143 (I382N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1475820	NM_000273.3(GPR143):c.1139T>C (p.Ile380Thr)	GPR143 (I380T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 720640	NM_000273.3(GPR143):c.1133G>A (p.Ser378Asn)	GPR143 (S378N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3008138	NM_000273.3(GPR143):c.1130C>T (p.Ala377Val)	GPR143 (A377V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134145	NM_000273.3(GPR143):c.1121-4C>G	GPR143	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1578180	NM_000273.3(GPR143):c.1120+20A>G	GPR143	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 255710	NM_000273.3(GPR143):c.1120+16C>T	GPR143	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1165936	NM_000273.3(GPR143):c.1120+15G>T	GPR143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3009741	NM_000273.3(GPR143):c.1120+13C>T	GPR143	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940375	NM_000273.3(GPR143):c.1120+9_1120+10del	GPR143	Deletion (intron variant)	not provided	GLikely benign
Select item 719864	NM_000273.3(GPR143):c.1120+4A>G	GPR143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1545823	NM_000273.3(GPR143):c.1113G>C (p.Leu371=)	GPR143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175536	NM_000273.3(GPR143):c.1095C>T (p.Asp365=)	GPR143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928479	NM_000273.3(GPR143):c.1092T>C (p.Ser364=)	GPR143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1364443	NM_000273.3(GPR143):c.1088C>A (p.Thr363Asn)	GPR143 (T363N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1649466	NM_000273.3(GPR143):c.1080T>C (p.Gly360=)	GPR143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778629	NM_000273.3(GPR143):c.1079G>A (p.Gly360Asp)	GPR143 (G360D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1441441	NM_000273.3(GPR143):c.1078G>A (p.Gly360Ser)	GPR143 (G360S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1903149	NM_000273.3(GPR143):c.1067T>C (p.Val356Ala)	GPR143 (V356A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1366075	NM_000273.3(GPR143):c.1060G>A (p.Gly354Arg)	GPR143 (G354R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2417093	NM_000273.3(GPR143):c.1059C>T (p.Ser353=)	GPR143	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769486	NM_000273.3(GPR143):c.1045G>A (p.Glu349Lys)	GPR143 (E349K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 719865	NM_000273.3(GPR143):c.1036A>G (p.Met346Val)	GPR143 (M346V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1669491	NM_000273.3(GPR143):c.1035G>A (p.Leu345=)	GPR143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1167817	NM_000273.3(GPR143):c.1031C>T (p.Pro344Leu)	GPR143 (P344L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1443747	NM_000273.3(GPR143):c.1030C>A (p.Pro344Thr)	GPR143 (P344T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2846344	NM_000273.3(GPR143):c.1018G>A (p.Ala340Thr)	GPR143 (A340T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020257	NM_000273.3(GPR143):c.1010C>A (p.Ala337Asp)	GPR143 (A337D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1167036	NM_000273.3(GPR143):c.1005G>A (p.Ser335=)	GPR143	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1650466	NM_000273.3(GPR143):c.996G>C (p.Leu332=)	GPR143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2123830	NM_000273.3(GPR143):c.992C>T (p.Ser331Leu)	GPR143 (S331L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416353	NM_000273.3(GPR143):c.990A>G (p.Glu330=)	GPR143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007765	NM_000273.3(GPR143):c.987G>A (p.Trp329Ter)	GPR143 (W329*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1479311	NM_000273.3(GPR143):c.886-115_970del	GPR143	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1673360	NM_000273.3(GPR143):c.950G>T (p.Ser317Ile)	GPR143 (S317I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 930593	NM_000273.3(GPR143):c.947G>A (p.Cys316Tyr)	GPR143 (C316Y)	Single nucleotide variant (missense variant)	Nystagmus 6, congenital, X-linked +1 more	GUncertain significance
Select item 2827945	NM_000273.3(GPR143):c.939G>A (p.Trp313Ter)	GPR143 (W313*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2152334	NM_000273.3(GPR143):c.938G>A (p.Trp313Ter)	GPR143 (W313*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 10514	NM_000273.3(GPR143):c.933_934dup (p.Gly312fs)	GPR143 (G312fs)	Duplication (frameshift variant)	Ocular albinism, type I	GPathogenic
Select item 2737076	NM_000273.3(GPR143):c.933C>A (p.Tyr311Ter)	GPR143 (Y311*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1595408	NM_000273.3(GPR143):c.933C>T (p.Tyr311=)	GPR143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 98651	NM_000273.3(GPR143):c.931_932insCG (p.Tyr311fs)	GPR143 (Y311fs)	Insertion (frameshift variant)	not provided	Gnot provided
Select item 1512924	NM_000273.3(GPR143):c.908G>T (p.Gly303Val)	GPR143 (G303V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904253	NM_000273.3(GPR143):c.906G>A (p.Gln302=)	GPR143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1381164	NM_000273.3(GPR143):c.896A>C (p.Asn299Thr)	GPR143 (N299T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431313	NM_000273.3(GPR143):c.887G>T (p.Gly296Val)	GPR143 (G296V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338323	NM_000273.3(GPR143):c.886-2A>T	GPR143	Single nucleotide variant (splice acceptor variant)	GPR143-related disorder +1 more	GPathogenic
Select item 2103849	NM_000273.3(GPR143):c.886-10C>T	GPR143	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1408135	NM_000273.3(GPR143):c.885+748G>A	GPR143	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 2047540	NM_000273.3(GPR143):c.885+8A>T	GPR143	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1357554	NM_000273.3(GPR143):c.885+4G>A	GPR143	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1514322	NM_000273.3(GPR143):c.885+2T>G	GPR143	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1359642	NM_000273.3(GPR143):c.878_885+2del	GPR143	Deletion (splice donor variant)	not provided	GPathogenic
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 98649	NM_000273.3(GPR143):c.876G>T (p.Trp292Cys)	GPR143 (W292C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 98648	NM_000273.3(GPR143):c.876G>A (p.Trp292Ter)	GPR143 (W292*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 98647	NM_000273.3(GPR143):c.874T>G (p.Trp292Gly)	GPR143 (W292G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 98646	NM_000273.3(GPR143):c.870_872del (p.Thr291del)	GPR143 (T291del)	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 1414734	NM_000273.3(GPR143):c.862G>C (p.Ala288Pro)	GPR143 (A288P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997432	NM_000273.3(GPR143):c.859G>A (p.Ala287Thr)	GPR143 (A287T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105085	NM_000273.3(GPR143):c.858T>C (p.Thr286=)	GPR143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2335495	NM_000273.3(GPR143):c.835G>A (p.Gly279Ser)	GPR143 (G279S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 450245	NM_000273.3(GPR143):c.827T>G (p.Ile276Ser)	GPR143 (I276S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190853	NM_000273.3(GPR143):c.824A>G (p.Asp275Gly)	GPR143 (D275G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1627084	NM_000273.3(GPR143):c.792A>G (p.Glu264=)	GPR143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2109214	NM_000273.3(GPR143):c.790G>A (p.Glu264Lys)	GPR143 (E264K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 438187	NM_000273.3(GPR143):c.779A>G (p.Asn260Ser)	GPR143 (N260S)	Single nucleotide variant (missense variant)	Albinism	GLikely pathogenic
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 1566054	NM_000273.3(GPR143):c.777G>A (p.Ser259=)	GPR143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065995	NM_000273.3(GPR143):c.776C>T (p.Ser259Leu)	GPR143 (S259L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499433	NM_000273.3(GPR143):c.770G>T (p.Trp257Leu)	GPR143 (W257L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1502929	NM_000273.3(GPR143):c.768-2_769del	GPR143	Deletion (splice acceptor variant)	not provided	GPathogenic
Select item 1166050	NM_000273.3(GPR143):c.768-5_768-2dup	GPR143	Duplication (splice acceptor variant)	not provided	GBenign
Select item 521594	NM_000273.3(GPR143):c.768-1G>A	GPR143	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GPathogenic
Select item 2029250	NM_000273.3(GPR143):c.768-9T>G	GPR143	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1971922	NM_000273.3(GPR143):c.767+15AT[2]	GPR143	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1948012	NM_000273.3(GPR143):c.767+17A>G	GPR143	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1609201	NM_000273.3(GPR143):c.767+10C>T	GPR143	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 255712	NM_000273.3(GPR143):c.767+10C>G	GPR143	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1586421	NM_000273.3(GPR143):c.767+9T>A	GPR143	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 98643	NM_000273.3(GPR143):c.756_767+2del	GPR143	Deletion (splice donor variant)	Ocular albinism, type I	GPathogenic
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 2053463	NM_000273.3(GPR143):c.766del (p.Cys256fs)	GPR143 (C256fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1351430	NM_000273.3(GPR143):c.751C>G (p.Leu251Val)	GPR143 (L251V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2062646	NM_000273.3(GPR143):c.742A>T (p.Lys248Ter)	GPR143 (K248*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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