"Genome-Nilou Lab"[submitter] AND "TYR"[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3807	NM_000372.5(TYR):c.1A>G (p.Met1Val)	TYR (M1V)	Single nucleotide variant (missense variant +1 more)	Abnormality of the skin +18 more	GPathogenic/Likely pathogenic
Select item 3793	NM_000372.5(TYR):c.61C>T (p.Pro21Ser)	TYR (P21S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 373911	NM_000372.5(TYR):c.74dup (p.Ser26fs)	TYR (S26fs)	Duplication (frameshift variant)	Tyrosinase-negative oculocutaneous albinism +2 more	GPathogenic
Select item 449541	NM_000372.5(TYR):c.116G>A (p.Trp39Ter)	TYR (W39*)	Single nucleotide variant (nonsense)	Tyrosinase-negative oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic
Select item 3789	NM_000372.5(TYR):c.125A>G (p.Asp42Gly)	TYR (D42G)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism	GLikely pathogenic
Select item 3794	NM_000372.5(TYR):c.140G>A (p.Gly47Asp)	TYR (G47D)	Single nucleotide variant (missense variant)	Ocular albinism with congenital sensorineural hearing loss +5 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 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 3772	NM_000372.5(TYR):c.242C>T (p.Pro81Leu)	TYR (P81L)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +7 more	GPathogenic
Select item 3781	NM_000372.5(TYR):c.265T>C (p.Cys89Arg)	TYR (C89R)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +9 more	GPathogenic
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 99563	NM_000372.5(TYR):c.338_339del (p.Thr113fs)	TYR (T113fs)	Microsatellite (frameshift variant)	Tyrosinase-negative oculocutaneous albinism +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 585290	NM_000372.5(TYR):c.387_389delinsGG (p.Glu130fs)	TYR (E130fs)	Indel (frameshift variant)	Tyrosinase-negative oculocutaneous albinism	GPathogenic
Select item 800539	NM_000372.5(TYR):c.391_393del (p.Lys131del)	TYR (K131del)	Deletion (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
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 3784	NM_000372.5(TYR):c.533G>A (p.Trp178Ter)	TYR (W178*)	Single nucleotide variant (nonsense)	Tyrosinase-negative oculocutaneous albinism	GPathogenic
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 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 3778	NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)	TYR (S192Y)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 99572	NM_000372.5(TYR):c.613C>A (p.Pro205Thr)	TYR (P205T)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +3 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 3795	NM_000372.5(TYR):c.649C>T (p.Arg217Trp)	TYR (R217W)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +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)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +3 more	GPathogenic/Likely pathogenic
Select item 449543	NM_000372.5(TYR):c.655G>A (p.Glu219Lys)	TYR (E219K)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more	GPathogenic
Select item 212523	NM_000372.5(TYR):c.658C>T (p.Gln220Ter)	TYR (Q220*)	Single nucleotide variant (nonsense)	Tyrosinase-negative oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic
Select item 212524	NM_000372.5(TYR):c.661G>A (p.Glu221Lys)	TYR (E221K)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism	GPathogenic/Likely pathogenic
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 3805	NM_000372.5(TYR):c.707G>A (p.Trp236Ter)	TYR (W236*)	Single nucleotide variant (nonsense)	Tyrosinase-negative oculocutaneous albinism	GLikely pathogenic
Select item 620587	NM_000372.5(TYR):c.714G>A (p.Trp238Ter)	TYR (W238*)	Single nucleotide variant (nonsense)	Tyrosinase-negative oculocutaneous albinism +1 more	GPathogenic
Select item 3787	NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer)	TYR	Microsatellite (nonsense)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more	GPathogenic
Select item 437175	NM_000372.5(TYR):c.753C>A (p.Tyr251Ter)	TYR (Y251*)	Single nucleotide variant (nonsense)	Tyrosinase-negative oculocutaneous albinism +1 more	GPathogenic
Select item 99579	NM_000372.5(TYR):c.757G>A (p.Gly253Arg)	TYR (G253R)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +2 more	GPathogenic/Likely pathogenic
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)	Tyrosinase-negative oculocutaneous albinism +4 more	GPathogenic/Likely pathogenic
Select item 99583	NM_000372.5(TYR):c.832C>T (p.Arg278Ter)	TYR (R278*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism +5 more	GPathogenic
Select item 437177	NM_000372.5(TYR):c.880G>A (p.Glu294Lys)	TYR (E294K)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic
Select item 99587	NM_000372.5(TYR):c.895C>A (p.Arg299Ser)	TYR (R299S)	Single nucleotide variant (missense variant)	TYR-related disorder +3 more	GPathogenic
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 418532	NM_000372.5(TYR):c.915C>A (p.Asp305Glu)	TYR (D305E)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +6 more	GConflicting classifications of pathogenicity
Select item 3771	NM_000372.5(TYR):c.929dup (p.Arg311fs)	TYR (R311fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 379657	NM_000372.5(TYR):c.976C>T (p.Gln326Ter)	TYR (Q326*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 1B +3 more	GPathogenic
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 212525	NM_000372.5(TYR):c.982G>A (p.Glu328Lys)	TYR (E328K)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +1 more	GConflicting classifications of pathogenicity
Select item 437179	NM_000372.5(TYR):c.1036G>T (p.Gly346Ter)	TYR (G346*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 1 +3 more	GPathogenic/Likely pathogenic
Select item 1175803	NM_000372.5(TYR):c.1036+1G>A	TYR	Single nucleotide variant (splice donor variant)	Tyrosinase-negative oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic
Select item 99527	NM_000372.5(TYR):c.1037-7T>A	TYR	Single nucleotide variant (intron variant)	Albinism or congenital nystagmus +10 more	GPathogenic/Likely pathogenic
Select item 596867	NM_000372.5(TYR):c.1037-2A>G	TYR	Single nucleotide variant (splice acceptor variant)	Tyrosinase-negative oculocutaneous albinism +1 more	GPathogenic
Select item 99526	NM_000372.5(TYR):c.1037-1G>A	TYR	Single nucleotide variant (splice acceptor variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +3 more	GPathogenic/Likely pathogenic
Select item 99528	NM_000372.5(TYR):c.1063G>C (p.Ala355Pro)	TYR (A355P)	Single nucleotide variant (missense variant)	Albinism or congenital nystagmus +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)	Oculocutaneous albinism +3 more	GConflicting classifications of pathogenicity
Select item 99534	NM_000372.5(TYR):c.1111A>T (p.Asn371Tyr)	TYR (N371Y)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +1 more	GPathogenic/Likely pathogenic
Select item 3774	NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)	TYR (T373K)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +5 more	GPathogenic
Select item 3775	NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)	TYR (D383N)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
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 800543	NM_000372.5(TYR):c.1185-2A>G	TYR	Single nucleotide variant (splice acceptor variant)	not provided +3 more	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)	Abnormality of the skin +4 more	GPathogenic
Select item 3779	NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)	TYR (R402Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity; other
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 3777	NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	TYR (P406L)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 212521	NM_000372.5(TYR):c.1234C>G (p.Pro412Ala)	TYR (P412A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 585282	NM_000372.5(TYR):c.1267del (p.Glu423fs)	TYR (E423fs)	Deletion (frameshift variant)	Tyrosinase-negative oculocutaneous albinism	GPathogenic
Select item 627596	NM_000372.5(TYR):c.1275C>G (p.Tyr425Ter)	TYR (Y425*)	Single nucleotide variant (nonsense)	Tyrosinase-negative oculocutaneous albinism	GLikely pathogenic
Select item 3801	NM_000372.5(TYR):c.1336G>A (p.Gly446Ser)	TYR (G446S)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +4 more	GPathogenic
Select item 3802	NM_000372.5(TYR):c.1342G>A (p.Asp448Asn)	TYR (D448N)	Single nucleotide variant (missense variant)	not provided +2 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 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 637017	NM_000372.5(TYR):c.1456del (p.Ala486fs)	TYR (A486fs)	Deletion (frameshift variant)	Tyrosinase-negative oculocutaneous albinism	GPathogenic
Select item 3803	NM_000372.5(TYR):c.1467dup (p.Ala490fs)	TYR (A490fs)	Duplication (frameshift variant)	Oculocutaneous albinism type 1B +4 more	GPathogenic/Likely pathogenic
Select item 3804	NM_000372.5(TYR):c.1501dup (p.Arg501fs)	TYR (R501fs)	Duplication (frameshift variant)	Tyrosinase-negative oculocutaneous albinism	GLikely pathogenic

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Items: 74