"Baylor Genetics"[submitter] AND "TYR"[gene] - ClinVar

Search results

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2679412	NM_000372.5(TYR):c.69del (p.Cys24fs)	TYR (C24fs)	Deletion (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	GPathogenic
Select item 1390419	NM_000372.5(TYR):c.98A>C (p.Lys33Thr)	TYR (K33T)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more	GPathogenic
Select item 3794	NM_000372.5(TYR):c.140G>A (p.Gly47Asp)	TYR (G47D)	Single nucleotide variant (missense variant)	TYR-related condition +6 more	GPathogenic/Likely pathogenic
Select item 99551	NM_000372.5(TYR):c.155G>T (p.Arg52Ile)	TYR (R52I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 2679407	NM_000372.5(TYR):c.178_179del (p.Leu60fs)	TYR (L60fs)	Deletion (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more	GPathogenic/Likely pathogenic
Select item 1453014	NM_000372.5(TYR):c.216del (p.Val74fs)	TYR (V74fs)	Deletion (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more	GPathogenic
Select item 1338375	NM_000372.5(TYR):c.221_222del (p.Val74fs)	TYR (V74fs)	Deletion (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more	GPathogenic
Select item 99554	NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly)	TYR	Duplication (inframe_insertion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 99553	NM_000372.5(TYR):c.229C>T (p.Arg77Trp)	TYR (R77W)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more	GPathogenic
Select item 3776	NM_000372.5(TYR):c.230G>A (p.Arg77Gln)	TYR (R77Q)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +5 more	GPathogenic
Select item 2679408	NM_000372.5(TYR):c.241C>T (p.Pro81Ser)	TYR (P81S)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more	GPathogenic
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 2679406	NM_000372.5(TYR):c.266_267delinsAA (p.Cys89Ter)	TYR (C89*)	Indel (nonsense)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	GLikely pathogenic
Select item 39977	NM_000372.5(TYR):c.272G>A (p.Cys91Tyr)	TYR (C91Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3788	NM_000372.5(TYR):c.286dup (p.Met96fs)	TYR (M96fs)	Duplication (frameshift variant)	Abnormality of the skin +3 more	GPathogenic/Likely pathogenic
Select item 1442280	NM_000372.5(TYR):c.290G>T (p.Gly97Val)	TYR (G97V)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more	GPathogenic/Likely pathogenic
Select item 99562	NM_000372.5(TYR):c.325G>A (p.Gly109Arg)	TYR (G109R)	Single nucleotide variant (missense variant)	Choroidal neovascularization +7 more	GPathogenic/Likely pathogenic
Select item 99564	NM_000372.5(TYR):c.344_345del (p.Arg115fs)	TYR (R115fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 99565	NM_000372.5(TYR):c.346C>T (p.Arg116Ter)	TYR (R116*)	Single nucleotide variant (nonsense)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +4 more	GPathogenic
Select item 2679415	NM_000372.5(TYR):c.422del (p.Ala141fs)	TYR (A141fs)	Deletion (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	GLikely pathogenic
Select item 2679413	NM_000372.5(TYR):c.440C>G (p.Ser147Ter)	TYR (S147*)	Single nucleotide variant (nonsense)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	GPathogenic
Select item 212522	NM_000372.5(TYR):c.446A>G (p.Tyr149Cys)	TYR (Y149C)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more	GPathogenic/Likely pathogenic
Select item 1325323	NM_000372.5(TYR):c.530T>A (p.Val177Asp)	TYR (V177D)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 99570	NM_000372.5(TYR):c.572del (p.Gly191fs)	TYR (G191fs)	Deletion (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more	GPathogenic
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 +1 more	GPathogenic
Select item 2679409	NM_000372.5(TYR):c.607G>T (p.Glu203Ter)	TYR (E203*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 99572	NM_000372.5(TYR):c.613C>A (p.Pro205Thr)	TYR (P205T)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3791	NM_000372.5(TYR):c.616G>A (p.Ala206Thr)	TYR (A206T)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 437182	NM_000372.5(TYR):c.635G>A (p.Arg212Lys)	TYR (R212K)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more	GPathogenic/Likely pathogenic
Select item 99574	NM_000372.5(TYR):c.649del (p.Arg217fs)	TYR (R217fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 3795	NM_000372.5(TYR):c.649C>T (p.Arg217Trp)	TYR (R217W)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +4 more	GConflicting classifications of pathogenicity
Select item 99575	NM_000372.5(TYR):c.650G>A (p.Arg217Gln)	TYR (R217Q)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 449543	NM_000372.5(TYR):c.655G>A (p.Glu219Lys)	TYR (E219K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1369307	NM_000372.5(TYR):c.706T>C (p.Trp236Arg)	TYR (W236R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1323729	NM_000372.5(TYR):c.715C>T (p.Arg239Trp)	TYR (R239W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 3787	NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer)	TYR	Microsatellite (nonsense)	not provided +2 more	GPathogenic
Select item 99579	NM_000372.5(TYR):c.757G>A (p.Gly253Arg)	TYR (G253R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2103421	NM_000372.5(TYR):c.818_819+1delinsTTT	TYR	Indel (splice donor variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more	GLikely pathogenic
Select item 2679410	NM_000372.5(TYR):c.819G>T (p.Gln273His)	TYR (Q273H)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	GPathogenic
Select item 99582	NM_000372.5(TYR):c.820-3C>G	TYR	Single nucleotide variant (intron variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more	GPathogenic/Likely pathogenic
Select item 3773	NM_000372.5(TYR):c.823G>T (p.Val275Phe)	TYR (V275F)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +5 more	GPathogenic/Likely pathogenic
Select item 99583	NM_000372.5(TYR):c.832C>T (p.Arg278Ter)	TYR (R278*)	Single nucleotide variant (nonsense)	Tyrosinase-negative oculocutaneous albinism +6 more	GPathogenic
Select item 2137232	NM_000372.5(TYR):c.863T>C (p.Leu288Ser)	TYR (L288S)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more	GPathogenic/Likely pathogenic
Select item 437177	NM_000372.5(TYR):c.880G>A (p.Glu294Lys)	TYR (E294K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1284359	NM_000372.5(TYR):c.895C>T (p.Arg299Cys)	TYR (R299C)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more	GPathogenic
Select item 99587	NM_000372.5(TYR):c.895C>A (p.Arg299Ser)	TYR (R299S)	Single nucleotide variant (missense variant)	TYR-related condition +3 more	GPathogenic
Select item 3796	NM_000372.5(TYR):c.896G>A (p.Arg299His)	TYR (R299H)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +5 more	GPathogenic
Select item 3771	NM_000372.5(TYR):c.929dup (p.Arg311fs)	TYR (R311fs)	Duplication (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 379657	NM_000372.5(TYR):c.976C>T (p.Gln326Ter)	TYR (Q326*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 1180809	NM_000372.5(TYR):c.996G>A (p.Met332Ile)	TYR (M332I)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +3 more	GPathogenic/Likely pathogenic
Select item 1175803	NM_000372.5(TYR):c.1036+1G>A	TYR	Single nucleotide variant (splice donor variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more	GPathogenic/Likely pathogenic
Select item 99527	NM_000372.5(TYR):c.1037-7T>A	TYR	Single nucleotide variant (intron variant)	Tyrosinase-negative oculocutaneous albinism +10 more	GPathogenic/Likely pathogenic
Select item 99526	NM_000372.5(TYR):c.1037-1G>A	TYR	Single nucleotide variant (splice acceptor variant)	Tyrosinase-negative 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)	Abnormality of the skin +5 more	GPathogenic/Likely pathogenic
Select item 437986	NM_000372.5(TYR):c.1037G>T (p.Gly346Val)	TYR (G346V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 2679405	NM_000372.5(TYR):c.1045_1046insAT (p.Ser349fs)	TYR (S349fs)	Insertion (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more	GPathogenic/Likely pathogenic
Select item 2679414	NM_000372.5(TYR):c.1059del (p.Gly353_Ile354insTer)	TYR	Deletion (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	GLikely pathogenic
Select item 99528	NM_000372.5(TYR):c.1063G>C (p.Ala355Pro)	TYR (A355P)	Single nucleotide variant (missense variant)	TYR-related condition +3 more	GConflicting classifications of pathogenicity
Select item 212520	NM_000372.5(TYR):c.1064C>T (p.Ala355Val)	TYR (A355V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 99529	NM_000372.5(TYR):c.1075C>T (p.Gln359Ter)	TYR (Q359*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1506678	NM_000372.5(TYR):c.1099C>T (p.His367Tyr)	TYR (H367Y)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more	GLikely pathogenic
Select item 1458014	NM_000372.5(TYR):c.1106A>G (p.Tyr369Cys)	TYR (Y369C)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more	GPathogenic/Likely pathogenic
Select item 3774	NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)	TYR (T373K)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +6 more	GPathogenic
Select item 1493663	NM_000372.5(TYR):c.1136G>T (p.Gly379Val)	TYR (G379V)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more	GLikely pathogenic
Select item 3786	NM_000372.5(TYR):c.1146C>A (p.Asn382Lys)	TYR (N382K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 3775	NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)	TYR (D383N)	Single nucleotide variant (missense variant)	TYR-related condition +7 more	GPathogenic
Select item 2679411	NM_000372.5(TYR):c.1184G>A (p.Ser395Asn)	TYR (S395N)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	GPathogenic
Select item 99541	NM_000372.5(TYR):c.1199G>T (p.Trp400Leu)	TYR (W400L)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +4 more	GPathogenic/Likely pathogenic
Select item 99542	NM_000372.5(TYR):c.1204C>T (p.Arg402Ter)	TYR (R402*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 3800	NM_000372.5(TYR):c.1209G>T (p.Arg403Ser)	TYR (R403S)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +3 more	GPathogenic/Likely pathogenic
Select item 3777	NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	TYR (P406L)	Single nucleotide variant (missense variant)	TYR-related condition +8 more	GPathogenic/Likely pathogenic
Select item 3792	NM_000372.5(TYR):c.1255G>A (p.Gly419Arg)	TYR (G419R)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +4 more	GPathogenic
Select item 437987	NM_000372.5(TYR):c.1264C>T (p.Arg422Trp)	TYR (R422W)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic
Select item 3782	NM_000372.5(TYR):c.1265G>A (p.Arg422Gln)	TYR (R422Q)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1B +2 more	GPathogenic
Select item 3801	NM_000372.5(TYR):c.1336G>A (p.Gly446Ser)	TYR (G446S)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +5 more	GPathogenic
Select item 1454225	NM_000372.5(TYR):c.1346A>G (p.Tyr449Cys)	TYR (Y449C)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +1 more	GPathogenic/Likely pathogenic
Select item 99547	NM_000372.5(TYR):c.1357C>T (p.Gln453Ter)	TYR (Q453*)	Single nucleotide variant (nonsense)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	GPathogenic
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 2679404	NM_000372.5(TYR):c.1427_1430dup (p.Trp477fs)	TYR (W477fs)	Duplication (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	GLikely pathogenic
Select item 3803	NM_000372.5(TYR):c.1467dup (p.Ala490fs)	TYR (A490fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic

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Items: 81