ClinVar for PubMed (Select 29345414) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339617	NM_022081.6(HPS4):c.1856C>T (p.Pro619Leu)	HPS4 (P614L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3246525	NC_000005.9:g.(?_33982321)_(33985180_?)del	SLC45A2	Deletion	not provided	GPathogenic
Select item 3246524	NC_000005.9:g.(?_33982321)_(33982537_?)del	SLC45A2	Deletion	not provided	GPathogenic
Select item 3245286	NC_000009.11:g.(?_12695495)_(12698675_?)del	TYRP1	Deletion	not provided	GPathogenic
Select item 3245012	NC_000010.10:g.(?_77795746)_(77818561_?)del	LRMDA	Deletion	not provided	GPathogenic
Select item 3243853	NC_000015.9:g.(?_28090085)_(28263743_?)del	OCA2	Deletion	not provided	GPathogenic
Select item 3243850	NC_000015.9:g.(?_28272997)_(28277329_?)del	OCA2	Deletion	not provided	GPathogenic
Select item 3243847	NC_000015.9:g.(?_28116280)_(28117088_?)del	OCA2	Deletion	not provided	GPathogenic
Select item 3243842	NC_000015.9:g.(?_28090085)_(28200381_?)del	OCA2	Deletion	not provided	GPathogenic
Select item 3243838	NC_000015.9:g.(?_28090085)_(28231809_?)del	OCA2	Deletion	not provided	GPathogenic
Select item 3243837	NC_000015.9:g.(?_28090085)_(28090218_?)del	OCA2	Deletion	not provided	GPathogenic
Select item 3243601	NC_000016.9:g.(?_84046586)_(84056514_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3243600	NC_000016.9:g.(?_84043389)_(84056514_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3243598	NC_000016.9:g.(?_84043389)_(84067094_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3243597	NC_000016.9:g.(?_84046586)_(84070525_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 3233735	NM_000275.3(OCA2):c.2079+4A>T	OCA2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3003734	NM_024747.6(HPS6):c.4A>T (p.Lys2Ter)	HPS6, LOC130004578 (K2*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2910366	NM_000275.3(OCA2):c.1715G>C (p.Arg572Pro)	OCA2 (R548P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910365	NM_000275.3(OCA2):c.1970G>T (p.Gly657Val)	OCA2 (G657V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2910282	NM_000372.5(TYR):c.571G>T (p.Gly191Ter)	TYR (G191*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2910187	NM_016180.5(SLC45A2):c.886C>T (p.Gln296Ter)	SLC45A2 (Q296*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2877125	NM_000275.3(OCA2):c.1379T>C (p.Leu460Pro)	OCA2 (L436P +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2859805	NM_001305581.2(LRMDA):c.398+2_398+13del	LRMDA	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2852449	NM_000275.3(OCA2):c.2338+1G>A	OCA2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2841981	NM_016180.5(SLC45A2):c.1418del (p.Gly473fs)	SLC45A2 (G473fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2834099	NM_000275.3(OCA2):c.1636+1G>T	OCA2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2827945	NM_000273.3(GPR143):c.939G>A (p.Trp313Ter)	GPR143 (W313*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2826209	NM_000275.3(OCA2):c.1268G>A (p.Trp423Ter)	OCA2 (W423* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2824592	NM_024747.6(HPS6):c.89C>G (p.Ser30Ter)	HPS6, LOC130004578 (S30*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2813640	NM_000550.3(TYRP1):c.1210_1261del (p.His404fs)	LURAP1L-AS1, TYRP1 (H404fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2748647	NM_000275.3(OCA2):c.1980G>A (p.Trp660Ter)	OCA2 (W636* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2736163	NM_000275.3(OCA2):c.1454G>T (p.Gly485Val)	OCA2 (G485V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2735734	NM_000372.5(TYR):c.1200G>T (p.Trp400Cys)	TYR (W400C)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more	GPathogenic/Likely pathogenic
Select item 2735262	NM_000550.3(TYRP1):c.782_793del (p.Cys261_Asp264del)	TYRP1	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 2734711	NM_016180.5(SLC45A2):c.113A>G (p.His38Arg)	SLC45A2 (H38R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2730986	NM_000275.3(OCA2):c.2401G>T (p.Gly801Ter)	OCA2 (G777* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2691714	NM_000275.3(OCA2):c.2432+1G>A	OCA2	Single nucleotide variant (splice donor variant)	Oculocutaneous albinism	GLikely pathogenic
Select item 2679408	NM_000372.5(TYR):c.241C>T (p.Pro81Ser)	TYR (P81S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2577323	NM_000550.3(TYRP1):c.810C>A (p.Ser270Arg)	TYRP1 (S270R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423639	NC_000016.9:g.(?_84050104)_(84050912_?)del	SLC38A8	Deletion	not provided	GPathogenic
Select item 2422773	NC_000015.9:g.(?_28090085)_(28096641_?)del	OCA2	Deletion	not provided	GPathogenic
Select item 2422570	NC_000010.10:g.(?_100182106)_(100191068_?)del	HPS1	Deletion	not provided	GPathogenic
Select item 2178860	NM_024747.6(HPS6):c.1149_1150del (p.Phe384fs)	HPS6 (F384fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2177243	NM_000275.3(OCA2):c.1714C>T (p.Arg572Cys)	OCA2 (R572C +1 more)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +1 more	GPathogenic/Likely pathogenic
Select item 2152334	NM_000273.3(GPR143):c.938G>A (p.Trp313Ter)	GPR143 (W313*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2152233	NM_205850.3(SLC24A5):c.1096C>A (p.Pro366Thr)	MYEF2, SLC24A5 (P366T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2152220	NM_000275.3(OCA2):c.1086AGCACTGGC[1] (p.363ALA[1])	OCA2	Microsatellite (inframe_deletion +1 more)	Tyrosinase-positive oculocutaneous albinism +1 more	GPathogenic/Likely pathogenic
Select item 2152218	NM_000275.3(OCA2):c.2481T>G (p.Tyr827Ter)	OCA2 (Y827* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2152093	NM_024747.6(HPS6):c.1387C>T (p.Arg463Ter)	HPS6 (R463*)	Single nucleotide variant (nonsense)	Hermansky-Pudlak syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2152054	NM_000550.3(TYRP1):c.919G>A (p.Glu307Lys)	LURAP1L-AS1, TYRP1 (E307K)	Single nucleotide variant (missense variant)	TYRP1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2137638	NM_000275.3(OCA2):c.287A>C (p.Glu96Ala)	OCA2 (E96A)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +3 more	GPathogenic/Likely pathogenic
Select item 2137630	NM_000275.3(OCA2):c.2051T>G (p.Phe684Cys)	OCA2 (F660C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2137629	NM_000275.3(OCA2):c.2062C>T (p.Leu688Phe)	OCA2 (L688F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2137622	NM_000275.3(OCA2):c.2433G>T (p.Arg811Ser)	OCA2 (R787S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2102118	NM_001305581.2(LRMDA):c.398+1G>C	LRMDA	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2076574	NM_000275.3(OCA2):c.1592A>G (p.Tyr531Cys)	OCA2 (Y507C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2027164	NM_000275.3(OCA2):c.1378C>G (p.Leu460Val)	OCA2 (L460V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1709742	NM_000275.3(OCA2):c.2404dup (p.Tyr802fs)	OCA2 (Y778fs +1 more)	Duplication (frameshift variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 1695732	NM_000273.3(GPR143):c.352G>A (p.Gly118Arg)	GPR143 (G118R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1516182	NM_000275.3(OCA2):c.1328T>C (p.Val443Ala)	OCA2 (V419A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1512077	NM_016180.5(SLC45A2):c.365A>G (p.Asn122Ser)	SLC45A2 (N122S)	Single nucleotide variant (missense variant)	SLC45A2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1508577	NM_016132.5(MYEF2):c.*7920T>C	MYEF2, SLC24A5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1501820	NM_000372.5(TYR):c.820-3del	TYR	Deletion (intron variant)	not provided	GLikely pathogenic
Select item 1493923	NM_000372.5(TYR):c.308G>T (p.Cys103Phe)	TYR (C103F)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1477155	NM_000372.5(TYR):c.1036G>A (p.Gly346Arg)	TYR (G346R)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more	GPathogenic/Likely pathogenic
Select item 1470861	NM_000275.3(OCA2):c.1715G>A (p.Arg572His)	OCA2 (R548H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1465246	NM_000372.5(TYR):c.547G>A (p.Val183Met)	TYR (V183M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1460218	NC_000005.9:g.(?_33982368)_(33991527_?)del	AMACR, SLC45A2	Deletion	not provided	GPathogenic
Select item 1456914	NM_000550.3(TYRP1):c.1066C>T (p.Arg356Ter)	LURAP1L-AS1, TYRP1 (R356*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1455209	NM_024747.6(HPS6):c.1819C>T (p.Arg607Ter)	HPS6 (R607*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1454822	NC_000015.9:g.(?_28171253)_(28235813_?)del	OCA2	Deletion	not provided	GPathogenic
Select item 1454562	NM_000275.3(OCA2):c.2353_2356del (p.Ile785fs)	OCA2 (I761fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1452567	NM_000195.5(HPS1):c.716T>C (p.Leu239Pro)	HPS1 (L239P +3 more)	Single nucleotide variant (missense variant +1 more)	Hermansky-Pudlak syndrome +2 more	GPathogenic
Select item 1451584	NM_000275.3(OCA2):c.1378C>T (p.Leu460Phe)	OCA2 (L460F +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1451401	NM_016180.5(SLC45A2):c.277G>A (p.Asp93Asn)	SLC45A2 (D93N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1451395	NM_016180.5(SLC45A2):c.1256C>T (p.Pro419Leu)	SLC45A2 (P419L)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4 +1 more	GPathogenic/Likely pathogenic
Select item 1451393	NM_016180.5(SLC45A2):c.1280T>C (p.Leu427Pro)	SLC45A2 (L427P)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4 +1 more	GPathogenic
Select item 1443630	NM_016180.5(SLC45A2):c.305G>A (p.Arg102Gln)	SLC45A2 (R102Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1439928	NM_000275.3(OCA2):c.2338+1G>T	OCA2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1438386	NM_000372.5(TYR):c.773_774del (p.Thr258fs)	TYR (T258fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1437914	NM_000273.3(GPR143):c.597C>A (p.Tyr199Ter)	GPR143 (Y199*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1434955	NM_000275.3(OCA2):c.1262G>A (p.Arg421Gln)	OCA2 (R397Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1431731	NM_000550.3(TYRP1):c.1141C>T (p.His381Tyr)	LURAP1L-AS1, TYRP1 (H381Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431730	NM_000550.3(TYRP1):c.671A>G (p.His224Arg)	TYRP1 (H224R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1428229	NM_000372.5(TYR):c.1306G>T (p.Gly436Cys)	TYR (G436C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1408941	NM_205850.3(SLC24A5):c.20_29del (p.Gln7fs)	SLC24A5 (Q7fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1403674	NM_000275.3(OCA2):c.2378G>A (p.Cys793Tyr)	OCA2 (C769Y +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1400325	NM_000275.3(OCA2):c.286G>A (p.Glu96Lys)	OCA2 (E96K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1396918	NM_000275.3(OCA2):c.824C>T (p.Thr275Met)	OCA2 (T275M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388929	NM_000275.3(OCA2):c.1504-2A>G	OCA2	Single nucleotide variant (splice acceptor variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +1 more	GPathogenic
Select item 1388161	NM_000275.3(OCA2):c.1979G>A (p.Trp660Ter)	OCA2 (W636* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1383541	NM_212550.5(BLOC1S3):c.450_473del (p.Gln150_Ala157del)	BLOC1S3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1381832	NM_000372.5(TYR):c.1366+1G>T	TYR	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 1359748	NM_000273.3(GPR143):c.241G>T (p.Gly81Cys)	GPR143 (G81C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1359041	NM_016180.5(SLC45A2):c.953G>A (p.Arg318His)	SLC45A2 (R318H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1352077	NM_000275.3(OCA2):c.824C>G (p.Thr275Arg)	OCA2 (T275R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1347593	NM_016180.5(SLC45A2):c.1510G>A (p.Val504Ile)	SLC45A2 (V504I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339219	NM_000372.5(TYR):c.157G>C (p.Gly53Arg)	TYR (G53R)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 1338319	NM_016180.5(SLC45A2):c.1166_1167del (p.Lys389fs)	SLC45A2 (K389fs)	Deletion (frameshift variant)	not provided	GPathogenic

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