ClinVar for MedGen (Select 36250) - ClinVar

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Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366828	NM_000372.5(TYR):c.272G>C (p.Cys91Ser)	TYR (C91S)	Single nucleotide variant (missense variant)	Oculocutaneous albinism	GPathogenic
Select item 3068865	NM_000372.5(TYR):c.133C>A (p.Pro45Thr)	TYR (P45T)	Single nucleotide variant (missense variant)	Oculocutaneous albinism	GLikely pathogenic
Select item 2736158	NM_000275.3(OCA2):c.2491G>C (p.Ala831Pro)	OCA2 (A831P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely 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 2691714	NM_000275.3(OCA2):c.2432+1G>A	OCA2	Single nucleotide variant (splice donor variant)	Oculocutaneous albinism	GLikely pathogenic
Select item 2677404	NM_000275.3(OCA2):c.1832T>C (p.Leu611Pro)	OCA2 (L587P +1 more)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +2 more	GPathogenic
Select item 2677399	NM_000275.3(OCA2):c.406C>T (p.Arg136Ter)	OCA2 (R136*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism +3 more	GPathogenic
Select item 2577279	NM_000372.5(TYR):c.826T>C (p.Cys276Arg)	TYR (C276R)	Single nucleotide variant (missense variant)	Oculocutaneous albinism	GPathogenic
Select item 2573387	NM_000275.3(OCA2):c.2216T>C (p.Ile739Thr)	OCA2 (I715T +1 more)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +2 more	GLikely pathogenic
Select item 2445913	NM_000275.3(OCA2):c.1911_1914del (p.Phe638fs)	OCA2 (F614fs +1 more)	Deletion (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +2 more	GPathogenic/Likely pathogenic
Select item 2137638	NM_000275.3(OCA2):c.287A>C (p.Glu96Ala)	OCA2 (E96A)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +2 more	GPathogenic/Likely pathogenic
Select item 2137228	NM_000372.5(TYR):c.593T>C (p.Ile198Thr)	TYR (I198T)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more	GPathogenic
Select item 1455534	NM_000372.5(TYR):c.626C>T (p.Pro209Leu)	TYR (P209L)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +1 more	GPathogenic/Likely pathogenic
Select item 1390436	NM_000372.5(TYR):c.71G>A (p.Cys24Tyr)	TYR (C24Y)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +2 more	GPathogenic
Select item 1301878	NM_000372.5(TYR):c.[1205G>A;575C>A]	TYR (S192Y +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +1 more	GLikely pathogenic
Select item 883342	NM_000372.5(TYR):c.464C>T (p.Thr155Ile)	TYR (T155I)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +1 more	GUncertain significance
Select item 883341	NM_000372.5(TYR):c.454C>T (p.Pro152Ser)	TYR (P152S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 882608	NM_000372.5(TYR):c.1525G>A (p.Glu509Lys)	TYR (E509K)	Single nucleotide variant (missense variant)	Oculocutaneous albinism	GUncertain significance
Select item 882561	NM_000372.5(TYR):c.67G>A (p.Ala23Thr)	TYR (A23T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 882342	NM_000372.5(TYR):c.1396T>G (p.Ser466Ala)	TYR (S466A)	Single nucleotide variant (missense variant)	Oculocutaneous albinism	GUncertain significance
Select item 882341	NM_000372.5(TYR):c.1307G>C (p.Gly436Ala)	TYR (G436A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 882340	NM_000372.5(TYR):c.1214G>A (p.Arg405His)	TYR (R405H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 882339	NM_000372.5(TYR):c.1065G>A (p.Ala355=)	TYR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 880978	NM_000372.5(TYR):c.1044T>C (p.Ala348=)	TYR	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 880977	NM_000372.5(TYR):c.978A>G (p.Gln326=)	TYR	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 880976	NM_000372.5(TYR):c.833G>A (p.Arg278Gln)	TYR (R278Q)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +1 more	GUncertain significance
Select item 817980	NM_000275.3(OCA2):c.565_566del (p.Leu189fs)	OCA2 (L189fs)	Deletion (frameshift variant)	Oculocutaneous albinism +1 more	GPathogenic/Likely pathogenic
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 785373	NM_000372.5(TYR):c.573A>G (p.Gly191=)	TYR	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 667388	NM_205850.3(SLC24A5):c.1078+1G>A	MYEF2, SLC24A5	Single nucleotide variant (3 prime UTR variant +1 more)	Oculocutaneous albinism +1 more	GLikely pathogenic
Select item 631668	NM_000372.5(TYR):c.705T>G (p.Tyr235Ter)	TYR (Y235*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism	GUncertain significance
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 617799	NM_000372.5(TYR):c.1037G>A (p.Gly346Glu)	TYR (G346E)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +5 more	GPathogenic/Likely pathogenic
Select item 596458	NM_000372.5(TYR):c.1161T>C (p.Leu387=)	TYR	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 585280	NM_000372.5(TYR):c.980A>G (p.Tyr327Cys)	TYR (Y327C)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +2 more	GConflicting classifications of pathogenicity
Select item 499705	NM_000372.5(TYR):c.665T>C (p.Ile222Thr)	TYR (I222T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 499569	NM_000372.5(TYR):c.1446G>C (p.Ala482=)	TYR	Single nucleotide variant (synonymous variant)	Tyrosinase-negative oculocutaneous albinism +2 more	GUncertain significance
Select item 444269	NM_000372.5(TYR):c.307T>C (p.Cys103Arg)	TYR (C103R)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic
Select item 437173	NM_000372.5(TYR):c.835T>C (p.Leu279=)	TYR	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism +2 more	GBenign/Likely benign
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 430966	NM_000275.3(OCA2):c.2055del (p.Phe685fs)	OCA2 (F661fs +1 more)	Deletion (frameshift variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GPathogenic
Select item 418532	NM_000372.5(TYR):c.915C>A (p.Asp305Glu)	TYR (D305E)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 373910	NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)	OCA2 (Y342C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 373071	NM_000275.3(OCA2):c.440dup (p.Ser148fs)	OCA2 (S148fs)	Duplication (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +2 more	GPathogenic/Likely pathogenic
Select item 364874	NM_000550.3(TYRP1):c.*955dup	LURAP1L-AS1, TYRP1	Duplication (3 prime UTR variant)	Oculocutaneous albinism	GUncertain significance
Select item 364867	NM_000550.3(TYRP1):c.*468ATTA[1]	LURAP1L-AS1, TYRP1	Microsatellite (3 prime UTR variant)	Oculocutaneous albinism	GBenign
Select item 364864	NM_000550.3(TYRP1):c.319_320dup	LURAP1L-AS1, TYRP1	Duplication (3 prime UTR variant)	Oculocutaneous albinism	GUncertain significance
Select item 364863	NM_000550.3(TYRP1):c.*294AAGT[1]	LURAP1L-AS1, TYRP1	Microsatellite (3 prime UTR variant)	Oculocutaneous albinism	GBenign
Select item 353250	NM_014324.6(AMACR):c.*227T>G	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Oculocutaneous albinism +2 more	GBenign/Likely benign
Select item 353245	NM_014324.6(AMACR):c.*617G>T	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Congenital bile acid synthesis defect 4 +3 more	GBenign/Likely benign
Select item 353244	NM_014324.6(AMACR):c.*663G>A	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Oculocutaneous albinism +3 more	GBenign/Likely benign
Select item 353241	NM_014324.6(AMACR):c.*963C>T	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Alpha-methylacyl-CoA racemase deficiency +2 more	GBenign/Likely benign
Select item 353239	NM_014324.6(AMACR):c.*982C>T	C1QTNF3-AMACR, SLC45A2 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Oculocutaneous albinism +2 more	GLikely benign
Select item 353238	NM_014324.6(AMACR):c.*1070C>T	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Oculocutaneous albinism +2 more	GBenign/Likely benign
Select item 353237	NM_014324.6(AMACR):c.*1144A>G	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GLikely benign
Select item 353224	NM_014324.6(AMACR):c.*1961G>A	AMACR, C1QTNF3-AMACR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Oculocutaneous albinism +1 more	GLikely benign
Select item 353216	NM_016180.5(SLC45A2):c.1076_1077del (p.Glu359fs)	SLC45A2 (E359fs)	Microsatellite (frameshift variant +1 more)	Oculocutaneous albinism type 4 +2 more	GConflicting classifications of pathogenicity
Select item 353210	NM_016180.4(SLC45A2):c.*29C>G	SLC45A2	Single nucleotide variant	Oculocutaneous albinism	GUncertain significance
Select item 341016	NM_022081.6(HPS4):c.751A>T (p.Thr251Ser)	HPS4 (T251S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 315466	NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg)	OCA2 (G485R +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GConflicting classifications of pathogenicity
Select item 315465	NM_000275.3(OCA2):c.1504-12_1504-9del	OCA2	Deletion (intron variant)	Oculocutaneous albinism	GUncertain significance
Select item 306446	NM_000372.5(TYR):c.*230G>A	TYR	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism	GUncertain significance
Select item 306445	NM_000372.5(TYR):c.1270T>A (p.Ser424Thr)	TYR (S424T)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +1 more	GUncertain significance
Select item 306444	NM_000372.5(TYR):c.194T>C (p.Leu65Pro)	TYR (L65P)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +1 more	GUncertain significance
Select item 306443	NM_000372.5(TYR):c.191C>T (p.Pro64Leu)	TYR (P64L)	Single nucleotide variant (missense variant)	Oculocutaneous albinism	GUncertain significance
Select item 306442	NM_000372.5(TYR):c.-37G>A	TYR	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism	GUncertain significance
Select item 306441	NM_000372.5(TYR):c.-41A>G	TYR	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism	GUncertain significance
Select item 288251	NM_000372.5(TYR):c.504C>T (p.Asn168=)	TYR	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 255957	NM_000372.5(TYR):c.178C>T (p.Leu60=)	TYR	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 255956	NM_000372.5(TYR):c.114G>A (p.Pro38=)	TYR	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 255717	NM_000275.3(OCA2):c.1080C>T (p.Ser360=)	OCA2	Single nucleotide variant (synonymous variant +1 more)	Oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic
Select item 212520	NM_000372.5(TYR):c.1064C>T (p.Ala355Val)	TYR (A355V)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +3 more	GConflicting classifications of pathogenicity
Select item 211767	NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser)	OCA2 (N476S +1 more)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +1 more	GPathogenic/Likely pathogenic
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
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 128360	NM_014324.6(AMACR):c.829G>A (p.Glu277Lys)	AMACR, C1QTNF3-AMACR +1 more (E277K)	Single nucleotide variant (non-coding transcript variant +2 more)	Oculocutaneous albinism +4 more	GBenign
Select item 99583	NM_000372.5(TYR):c.832C>T (p.Arg278Ter)	TYR (R278*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic
Select item 99581	NM_000372.5(TYR):c.816G>C (p.Trp272Cys)	TYR (W272C)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +1 more	GPathogenic/Likely pathogenic
Select item 99575	NM_000372.5(TYR):c.650G>A (p.Arg217Gln)	TYR (R217Q)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +3 more	GPathogenic/Likely pathogenic
Select item 99548	NM_000372.5(TYR):c.1366+4A>G	TYR	Single nucleotide variant (intron variant)	Oculocutaneous albinism +6 more	GConflicting classifications of pathogenicity
Select item 99539	NM_000372.5(TYR):c.1168C>G (p.His390Asp)	TYR (H390D)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +1 more	GPathogenic
Select item 99527	NM_000372.5(TYR):c.1037-7T>A	TYR	Single nucleotide variant (intron variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 3807	NM_000372.5(TYR):c.1A>G (p.Met1Val)	TYR (M1V)	Single nucleotide variant (missense variant +1 more)	Hypopigmentation of the skin +18 more	GPathogenic/Likely pathogenic
Select item 3801	NM_000372.5(TYR):c.1336G>A (p.Gly446Ser)	TYR (G446S)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +4 more	GPathogenic
Select item 3800	NM_000372.5(TYR):c.1209G>T (p.Arg403Ser)	TYR (R403S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 3798	NM_000372.5(TYR):c.1112A>C (p.Asn371Thr)	TYR (N371T)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +1 more	GPathogenic/Likely pathogenic
Select item 3796	NM_000372.5(TYR):c.896G>A (p.Arg299His)	TYR (R299H)	Single nucleotide variant (missense variant)	See cases +5 more	GPathogenic
Select item 3790	NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)	TYR (C55Y)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 3778	NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)	TYR (S192Y)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 3777	NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	TYR (P406L)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +7 more	GPathogenic/Likely pathogenic
Select item 3775	NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)	TYR (D383N)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +6 more	GPathogenic
Select item 3774	NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)	TYR (T373K)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 3773	NM_000372.5(TYR):c.823G>T (p.Val275Phe)	TYR (V275F)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +4 more	GPathogenic/Likely pathogenic
Select item 3772	NM_000372.5(TYR):c.242C>T (p.Pro81Leu)	TYR (P81L)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +7 more	GPathogenic
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 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 953	NM_000275.3(OCA2):c.1842+1G>T	OCA2	Single nucleotide variant (splice donor variant)	Oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic

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Items: 97