rufous weatherbyi - ClinVar

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Items: 95

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 364844	NM_000550.3(TYRP1):c.-167G>A	TYRP1	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 364845	NM_000550.3(TYRP1):c.-161G>T	TYRP1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 364846	NM_000550.3(TYRP1):c.-119G>T	TYRP1	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 913602	NM_000550.3(TYRP1):c.-111T>C	TYRP1	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 364847	NM_000550.3(TYRP1):c.-70C>T	TYRP1	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism type 3 +1 more	GUncertain significance
Select item 913603	NM_000550.3(TYRP1):c.-69G>A	TYRP1	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 364848	NM_000550.3(TYRP1):c.-69G>T	TYRP1	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 364849	NM_000550.3(TYRP1):c.-15C>G	TYRP1	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 364850	NM_000550.3(TYRP1):c.-6A>G	TYRP1	Single nucleotide variant (5 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 913604	NM_000550.3(TYRP1):c.67C>T (p.Arg23Trp)	TYRP1 (R23W)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3 +1 more	GLikely benign
Select item 364851	NM_000550.3(TYRP1):c.70G>A (p.Ala24Thr)	TYRP1 (A24T)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3 +2 more	GConflicting classifications of pathogenicity
Select item 3336274	NM_000550.3(TYRP1):c.88T>C (p.Cys30Arg)	TYRP1 (C30R)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3	GLikely pathogenic
Select item 735636	NM_000550.3(TYRP1):c.98T>C (p.Val33Ala)	TYRP1 (V33A)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3 +1 more	GBenign
Select item 17597	NM_000550.3(TYRP1):c.107del (p.Ala35_Leu36insTer)	TYRP1	Deletion (nonsense)	Oculocutaneous albinism type 3	GPathogenic
Select item 914001	NM_000550.3(TYRP1):c.114T>A (p.Ser38Arg)	TYRP1 (S38R)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3 +1 more	GUncertain significance
Select item 914002	NM_000550.3(TYRP1):c.138C>T (p.Ser46=)	TYRP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 914003	NM_000550.3(TYRP1):c.148G>A (p.Gly50Arg)	TYRP1 (G50R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1687268	NM_000550.3(TYRP1):c.187G>A (p.Gly63Ser)	TYRP1 (G63S)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 364852	NM_000550.3(TYRP1):c.208G>A (p.Ala70Thr)	TYRP1 (A70T)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3 +3 more	GUncertain significance
Select item 256644	NM_000550.3(TYRP1):c.259C>A (p.Arg87=)	TYRP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 195092	NM_000550.3(TYRP1):c.278G>A (p.Arg93His)	TYRP1 (R93H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 364853	NM_000550.3(TYRP1):c.308G>A (p.Gly103Asp)	TYRP1 (G103D)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 1325324	NM_000550.3(TYRP1):c.351G>A (p.Trp117Ter)	TYRP1 (W117*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 3 +2 more	GPathogenic/Likely pathogenic
Select item 915231	NM_000550.3(TYRP1):c.385G>C (p.Val129Leu)	TYRP1 (V129L)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3 +1 more	GUncertain significance
Select item 915232	NM_000550.3(TYRP1):c.426C>A (p.Asn142Lys)	TYRP1 (N142K)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 915233	NM_000550.3(TYRP1):c.436C>T (p.Arg146Trp)	TYRP1 (R146W)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3 +1 more	GUncertain significance
Select item 915234	NM_000550.3(TYRP1):c.457C>T (p.Arg153Cys)	TYRP1 (R153C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 17594	NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter)	TYRP1 (S166*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1415227	NM_000550.3(TYRP1):c.520G>T (p.Gly174Cys)	TYRP1 (G174C)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3 +2 more	GUncertain significance
Select item 364854	NM_000550.3(TYRP1):c.527C>T (p.Thr176Met)	TYRP1 (T176M)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3 +1 more	GUncertain significance
Select item 915235	NM_000550.3(TYRP1):c.640T>C (p.Ser214Pro)	TYRP1 (S214P)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 915236	NM_000550.3(TYRP1):c.689G>A (p.Arg230His)	TYRP1 (R230H)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3 +1 more	GUncertain significance
Select item 256647	NM_000550.3(TYRP1):c.729T>C (p.Ser243=)	TYRP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 197161	NM_000550.3(TYRP1):c.785C>T (p.Thr262Met)	TYRP1 (T262M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 77560	NM_000550.3(TYRP1):c.786G>A (p.Thr262=)	TYRP1	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism type 3 +1 more	GConflicting classifications of pathogenicity
Select item 1334531	NM_000550.3(TYRP1):c.859C>T (p.Arg287Ter)	TYRP1 (R287*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 3 +1 more	GPathogenic/Likely pathogenic
Select item 912540	NM_000550.3(TYRP1):c.904C>G (p.Leu302Val)	TYRP1 (L302V)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 1687292	NM_000550.3(TYRP1):c.913+5G>A	TYRP1	Single nucleotide variant (intron variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 256648	NM_000550.3(TYRP1):c.913+9C>T	TYRP1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 731277	NM_000550.3(TYRP1):c.914-4G>T	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	Oculocutaneous albinism type 3 +1 more	GConflicting classifications of pathogenicity
Select item 364855	NM_000550.3(TYRP1):c.917C>G (p.Thr306Ser)	TYRP1, LURAP1L-AS1 (T306S)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 912541	NM_000550.3(TYRP1):c.926G>A (p.Gly309Glu)	LURAP1L-AS1, TYRP1 (G309E)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3 +1 more	GUncertain significance
Select item 912542	NM_000550.3(TYRP1):c.933T>C (p.Ile311=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism type 3 +1 more	GConflicting classifications of pathogenicity
Select item 437183	NM_000550.3(TYRP1):c.977G>A (p.Arg326His)	LURAP1L-AS1, TYRP1 (R326H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 364856	NM_000550.3(TYRP1):c.1029C>T (p.Asp343=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism type 3 +2 more	GConflicting classifications of pathogenicity
Select item 17598	NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs)	LURAP1L-AS1, TYRP1 (N353fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 17596	NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln)	LURAP1L-AS1, TYRP1 (R356Q)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 256641	NM_000550.3(TYRP1):c.1082-9T>C	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 364857	NM_000550.3(TYRP1):c.1082-8G>A	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 913642	NM_000550.3(TYRP1):c.1082-5T>A	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	Oculocutaneous albinism type 3 +1 more	GConflicting classifications of pathogenicity
Select item 1304573	NM_000550.3(TYRP1):c.1082G>C (p.Gly361Ala)	TYRP1, LURAP1L-AS1 (G361A)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3 +2 more	GUncertain significance
Select item 913643	NM_000550.3(TYRP1):c.1097C>T (p.Thr366Met)	LURAP1L-AS1, TYRP1 (T366M)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3 +1 more	GUncertain significance
Select item 17593	NM_000550.3(TYRP1):c.1103del (p.Lys368fs)	LURAP1L-AS1, TYRP1 (K368fs)	Deletion (frameshift variant)	Oculocutaneous albinism type 3 +2 more	GPathogenic/Likely pathogenic
Select item 17595	NM_000550.3(TYRP1):c.1120C>T (p.Arg374Ter)	LURAP1L-AS1, TYRP1 (R374*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 212527	NM_000550.3(TYRP1):c.1145T>C (p.Leu382Pro)	TYRP1, LURAP1L-AS1 (L382P)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3	GLikely pathogenic
Select item 913644	NM_000550.3(TYRP1):c.1172C>T (p.Thr391Ile)	LURAP1L-AS1, TYRP1 (T391I)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 423157	NM_000550.3(TYRP1):c.1226C>T (p.Ala409Val)	LURAP1L-AS1, TYRP1 (A409V)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3 +1 more	GConflicting classifications of pathogenicity
Select item 437186	NM_000550.3(TYRP1):c.1261+1G>A	LURAP1L-AS1, TYRP1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 256642	NM_000550.3(TYRP1):c.1261+20C>T	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 384337	NM_000550.3(TYRP1):c.1263T>C (p.Asp421=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 364858	NM_000550.3(TYRP1):c.1279T>C (p.Leu427=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 437184	NM_000550.3(TYRP1):c.1354A>G (p.Met452Val)	LURAP1L-AS1, TYRP1 (M452V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2627395	NM_000550.3(TYRP1):c.1408+5G>C	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 256643	NM_000550.3(TYRP1):c.1409-18dup	LURAP1L-AS1, TYRP1	Duplication (intron variant)	not specified +2 more	GBenign
Select item 914044	NM_000550.3(TYRP1):c.1409G>A (p.Ser470Asn)	LURAP1L-AS1, TYRP1 (S470N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 212528	NM_000550.3(TYRP1):c.1411C>T (p.Arg471Trp)	LURAP1L-AS1, TYRP1 (R471W)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3 +3 more	GUncertain significance
Select item 914045	NM_000550.3(TYRP1):c.1421G>A (p.Ser474Asn)	LURAP1L-AS1, TYRP1 (S474N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 198744	NM_000550.3(TYRP1):c.1500G>A (p.Leu500=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 914046	NM_000550.3(TYRP1):c.1505G>A (p.Arg502His)	LURAP1L-AS1, TYRP1 (R502H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 914047	NM_000550.3(TYRP1):c.1510A>G (p.Arg504Gly)	LURAP1L-AS1, TYRP1 (R504G)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 617812	NM_000550.3(TYRP1):c.1534C>T (p.Gln512Ter)	LURAP1L-AS1, TYRP1 (Q512*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 3 +1 more	GConflicting classifications of pathogenicity
Select item 198743	NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter)	LURAP1L-AS1, TYRP1 (Y519*)	Single nucleotide variant (nonsense)	not specified +3 more	GBenign/Likely benign
Select item 364859	NM_000550.3(TYRP1):c.1560A>G (p.Gln520=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 364860	NM_000550.3(TYRP1):c.*59A>C	LURAP1L-AS1, TYRP1	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 914553	NM_000550.3(TYRP1):c.*65T>A	LURAP1L-AS1, TYRP1	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 914554	NM_000550.3(TYRP1):c.*98T>A	LURAP1L-AS1, TYRP1	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 364861	NM_000550.3(TYRP1):c.*123C>A	LURAP1L-AS1, TYRP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 914555	NM_000550.3(TYRP1):c.*195C>T	LURAP1L-AS1, TYRP1	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 914556	NM_000550.3(TYRP1):c.*229C>G	LURAP1L-AS1, TYRP1	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism type 3	GLikely benign
Select item 364862	NM_000550.3(TYRP1):c.*259T>C	LURAP1L-AS1, TYRP1	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 364865	NM_000550.3(TYRP1):c.*404A>T	LURAP1L-AS1, TYRP1	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism type 3 +1 more	GBenign
Select item 364866	NM_000550.3(TYRP1):c.*458A>G	LURAP1L-AS1, TYRP1	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 364868	NM_000550.3(TYRP1):c.*509C>A	LURAP1L-AS1, TYRP1	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism type 3 +1 more	GLikely benign
Select item 912587	NM_000550.3(TYRP1):c.*518A>G	LURAP1L-AS1, TYRP1	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 364869	NM_000550.3(TYRP1):c.*568T>C	LURAP1L-AS1, TYRP1	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 364870	NM_000550.3(TYRP1):c.*573T>G	LURAP1L-AS1, TYRP1	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 364871	NM_000550.3(TYRP1):c.*591G>T	LURAP1L-AS1, TYRP1	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 912588	NM_000550.3(TYRP1):c.*727C>A	TYRP1, LURAP1L-AS1	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 913687	NM_000550.3(TYRP1):c.*775G>A	TYRP1, LURAP1L-AS1	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 364872	NM_000550.3(TYRP1):c.*853A>C	LURAP1L-AS1, TYRP1	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism type 3 +1 more	GBenign
Select item 364873	NM_000550.3(TYRP1):c.*908T>C	LURAP1L-AS1, TYRP1	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism type 3 +1 more	GBenign
Select item 913688	NM_000550.3(TYRP1):c.*934T>G	LURAP1L-AS1, TYRP1	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 913689	NM_000550.3(TYRP1):c.*944A>C	LURAP1L-AS1, TYRP1	Single nucleotide variant (3 prime UTR variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 952	NC_000015.10:g.28018399_28018559del	OCA2	Deletion	Brown oculocutaneous albinism +1 more	GPathogenic
Select item 1801367	NM_000550.3:c.1261_1264dup	TYRP1	Duplication	Oculocutaneous albinism type 3	GUncertain significance

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Items: 95