"GeneDx"[submitter] AND "OCA2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146167	GRCh37/hg19 15q13.1(chr15:28131544-28195559)x1	LOC132090298, LOC132090299 +1 more	Copy number loss	See cases	GLikely benign
Select item 152908	GRCh38/hg38 15q12-13.1(chr15:27713721-28154050)x3	HERC2, LOC126862084 +4 more	Copy number gain	See cases	GPathogenic
Select item 1305143	NM_000275.3(OCA2):c.2473A>T (p.Met825Leu)	OCA2 (M801L +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1257060	NM_000275.3(OCA2):c.2432+183G>A	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272444	NM_000275.3(OCA2):c.2432+178C>T	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 423583	NM_000275.3(OCA2):c.2425T>C (p.Phe809Leu)	OCA2 (F809L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195725	NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile)	OCA2 (F809I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 255730	NM_000275.3(OCA2):c.2364G>A (p.Ser788=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 627604	NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu)	OCA2 (S788L +1 more)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +3 more	GPathogenic/Likely pathogenic
Select item 436090	NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)	OCA2 (G780D +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1232278	NM_000275.3(OCA2):c.2339-128C>T	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247543	NM_000275.3(OCA2):c.2338+207C>T	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229385	NM_000275.3(OCA2):c.2338+179A>G	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228340	NM_000275.3(OCA2):c.2338+75T>C	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 424410	NM_000275.3(OCA2):c.2338+2T>G	OCA2	Single nucleotide variant (splice donor variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +1 more	GPathogenic/Likely pathogenic
Select item 429697	NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr)	OCA2 (C777Y +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic
Select item 845735	NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp)	OCA2 (G751D +1 more)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +2 more	GPathogenic/Likely pathogenic
Select item 3368048	NM_000275.3(OCA2):c.2258T>A (p.Leu753Gln)	OCA2 (L729Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 668323	NM_000275.3(OCA2):c.2245-6C>A	OCA2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1259789	NM_000275.3(OCA2):c.2245-221C>T	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229296	NM_000275.3(OCA2):c.2244+344_2244+345del	OCA2	Deletion (intron variant)	not provided	GBenign
Select item 1274045	NM_000275.3(OCA2):c.2244+334CT[6]	OCA2	Microsatellite (intron variant)	not provided	GBenign
Select item 1268002	NM_000275.3(OCA2):c.2244+299G>C	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271358	NM_000275.3(OCA2):c.2244+279A>G	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275698	NM_000275.3(OCA2):c.2244+259del	OCA2	Deletion (intron variant)	not provided	GBenign
Select item 1238141	NM_000275.3(OCA2):c.2244+210C>T	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277043	NM_000275.3(OCA2):c.2244+198dup	OCA2	Duplication (intron variant)	not provided	GBenign
Select item 1221686	NM_000275.3(OCA2):c.2244+163T>C	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280888	NM_000275.3(OCA2):c.2244+127G>A	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263011	NM_000275.3(OCA2):c.2244+25C>G	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GBenign
Select item 195558	NM_000275.3(OCA2):c.2244+18A>G	OCA2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 956	NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)	OCA2 (P743L +1 more)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +2 more	GPathogenic/Likely pathogenic
Select item 1722965	NM_000275.3(OCA2):c.2226C>G (p.Ile742Met)	OCA2 (I718M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 255729	NM_000275.3(OCA2):c.2208G>A (p.Ser736=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 195557	NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)	OCA2 (S736L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 632225	NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg)	OCA2 (L734R +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 255728	NM_000275.3(OCA2):c.2165T>C (p.Ile722Thr)	OCA2 (I722T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2137627	NM_000275.3(OCA2):c.2158C>T (p.Arg720Cys)	OCA2 (R696C +1 more)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +1 more	GPathogenic/Likely pathogenic
Select item 1251779	NM_000275.3(OCA2):c.2140-134C>T	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288885	NM_000275.3(OCA2):c.2140-183A>G	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261495	NM_000275.3(OCA2):c.2140-294C>T	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250319	NM_000275.3(OCA2):c.2139+111A>G	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271818	NM_000275.3(OCA2):c.2139+106T>C	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232048	NM_000275.3(OCA2):c.2139+64dup	OCA2	Duplication (intron variant)	not provided	GBenign
Select item 1279419	NM_000275.3(OCA2):c.2139+22A>T	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1308726	NM_000275.3(OCA2):c.2110G>T (p.Val704Phe)	OCA2 (V680F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303874	NM_000275.3(OCA2):c.2095C>A (p.His699Asn)	OCA2 (H675N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1217688	NM_000275.3(OCA2):c.2086_2095del (p.Ala696fs)	OCA2 (A672fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1183571	NM_000275.3(OCA2):c.2080-179G>T	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279773	NM_000275.3(OCA2):c.2079+145T>C	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288565	NM_000275.3(OCA2):c.2079+126A>G	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1305644	NM_000275.3(OCA2):c.2079+5G>T	OCA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 623862	NM_000275.3(OCA2):c.2079G>A (p.Glu693=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 817597	NM_000275.3(OCA2):c.2051_2052delinsG (p.Phe684fs)	OCA2 (F660fs +1 more)	Indel (frameshift variant)	not provided +3 more	GPathogenic
Select item 960	NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)	OCA2 (W679C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1678658	NM_000275.3(OCA2):c.2035T>C (p.Trp679Arg)	OCA2 (W655R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 194918	NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)	OCA2 (L674V +1 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 1273410	NM_000275.3(OCA2):c.1952-209_1952-208insA	OCA2	Insertion (intron variant)	not provided	GBenign
Select item 1271362	NM_000275.3(OCA2):c.1952-270A>T	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239793	NM_000275.3(OCA2):c.1951+109A>G	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262515	NM_000275.3(OCA2):c.1951+45G>C	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191876	NM_000275.3(OCA2):c.1901T>A (p.Ile634Asn)	OCA2 (I610N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1303875	NM_000275.3(OCA2):c.1897G>T (p.Val633Phe)	OCA2 (V609F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596993	NM_000275.3(OCA2):c.1875A>C (p.Lys625Asn)	OCA2 (K625N +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 255724	NM_000275.3(OCA2):c.1844A>G (p.His615Arg)	OCA2 (H615R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1312430	NM_000275.3(OCA2):c.1843-9_1843-6del	OCA2	Microsatellite (intron variant)	not provided +1 more	GUncertain significance
Select item 1274710	NM_000275.3(OCA2):c.1842+262G>A	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 953	NM_000275.3(OCA2):c.1842+1G>T	OCA2	Single nucleotide variant (splice donor variant)	Oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic
Select item 2137632	NM_000275.3(OCA2):c.1841del (p.Lys614fs)	OCA2 (K590fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1252195	NM_000275.3(OCA2):c.1785-47A>G	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GBenign
Select item 1288284	NM_000275.3(OCA2):c.1785-293C>T	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277786	NM_000275.3(OCA2):c.1784+161C>T	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263331	NM_000275.3(OCA2):c.1784+109G>T	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226185	NM_000275.3(OCA2):c.1784+93G>A	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247207	NM_000275.3(OCA2):c.1784+71G>A	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2137633	NM_000275.3(OCA2):c.1784+1G>A	OCA2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 194592	NM_000275.3(OCA2):c.1752C>T (p.His584=)	OCA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1377550	NM_000275.3(OCA2):c.1699G>A (p.Glu567Lys)	OCA2 (E543K +1 more)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +1 more	GConflicting classifications of pathogenicity
Select item 1304554	NM_000275.3(OCA2):c.1678C>T (p.Arg560Cys)	OCA2 (R536C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 438059	NM_000275.3(OCA2):c.1660T>C (p.Trp554Arg)	OCA2 (W554R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1224918	NM_000275.3(OCA2):c.1636+78T>C	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 450156	NM_000275.3(OCA2):c.1574C>T (p.Pro525Leu)	OCA2 (P525L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1234601	NM_000275.3(OCA2):c.1504-320GTTT[2]	OCA2	Microsatellite (intron variant)	not provided	GBenign
Select item 211768	NM_000275.3(OCA2):c.1503+5G>A	OCA2	Single nucleotide variant (intron variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +2 more	GPathogenic/Likely pathogenic
Select item 961	NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)	OCA2 (N489D +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 954	NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)	OCA2 (A481T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1311264	NM_000275.3(OCA2):c.1430T>C (p.Ile477Thr)	OCA2 (I453T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 515929	NM_000275.3(OCA2):c.1365-10T>C	OCA2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1233186	NM_000275.3(OCA2):c.1364+113G>A	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273632	NM_000275.3(OCA2):c.1364+26A>G	OCA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211398	NM_000275.3(OCA2):c.1349C>T (p.Thr450Met)	OCA2 (T426M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 955	NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)	OCA2 (V443I +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +5 more	GPathogenic/Likely pathogenic
Select item 1210682	NM_000275.3(OCA2):c.1324_1326del (p.Asn442del)	OCA2 (N418del +1 more)	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 502704	NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly)	OCA2 (D441G +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 255719	NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)	OCA2 (L440F +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1212925	NM_000275.3(OCA2):c.1289G>A (p.Cys430Tyr)	OCA2 (C406Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 194160	NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)	OCA2 (R419W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1803497	NM_000275.3(OCA2):c.1253C>T (p.Ser418Phe)	OCA2 (S394F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193985	NM_000275.3(OCA2):c.1239+5G>C	OCA2	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 211766	NM_000275.3(OCA2):c.1211C>T (p.Thr404Met)	OCA2 (T404M +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +4 more	GPathogenic/Likely pathogenic

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