ClinVar for MedGen (Select 1643910) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3028902	NM_000372.5(TYR):c.240G>C (p.Trp80Cys)	TYR (W80C)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism	GLikely pathogenic
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 2663761	NM_000372.5(TYR):c.259A>G (p.Arg87Gly)	TYR (R87G)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism	GLikely pathogenic
Select item 2663760	NM_000372.5(TYR):c.255del (p.Phe84_Tyr85insTer)	TYR	Deletion (nonsense)	Tyrosinase-negative oculocutaneous albinism	GPathogenic
Select item 2580971	NM_000372.5(TYR):c.1109T>A (p.Met370Lys)	TYR (M370K)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +1 more	GLikely pathogenic
Select item 1698930	NM_000372.5(TYR):c.1493del (p.Leu498fs)	TYR (L498fs)	Deletion (frameshift variant)	Tyrosinase-negative oculocutaneous albinism	GLikely pathogenic
Select item 1661114	NM_000372.5(TYR):c.1036+13T>A	TYR	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1596806	NM_000372.5(TYR):c.48C>T (p.Ser16=)	TYR	Single nucleotide variant (synonymous variant)	Tyrosinase-negative oculocutaneous albinism +3 more	GLikely benign
Select item 1438484	NM_000372.5(TYR):c.892C>T (p.Arg298Trp)	TYR (R298W)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +3 more	GUncertain significance
Select item 1377526	NM_000372.5(TYR):c.389A>T (p.Glu130Val)	TYR (E130V)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +3 more	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 1338974	NM_000372.5(TYR):c.1202T>C (p.Leu401Pro)	TYR (L401P)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism	GUncertain significance
Select item 1336102	NM_000372.5(TYR):c.1509G>C (p.Lys503Asn)	TYR (K503N)	Single nucleotide variant (missense variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +3 more	GUncertain significance
Select item 1320271	NM_000372.5(TYR):c.1039T>C (p.Phe347Leu)	TYR (F347L)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +1 more	GLikely pathogenic
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 1301877	NM_000372.5(TYR):c.755T>G (p.Met252Arg)	TYR (M252R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1299540	NM_000372.5(TYR):c.859dup (p.Ser287fs)	TYR (S287fs)	Duplication (frameshift variant)	Tyrosinase-negative oculocutaneous albinism	GPathogenic
Select item 1180809	NM_000372.5(TYR):c.996G>A (p.Met332Ile)	TYR (M332I)	Single nucleotide variant (missense variant)	not provided +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 1066111	NM_000372.5(TYR):c.132T>A (p.Ser44Arg)	TYR (S44R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 996002	NM_000372.5(TYR):c.1101C>A (p.His367Gln)	TYR (H367Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 800543	NM_000372.5(TYR):c.1185-2A>G	TYR	Single nucleotide variant (splice acceptor variant)	not provided +2 more	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 785373	NM_000372.5(TYR):c.573A>G (p.Gly191=)	TYR	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism +2 more	GConflicting classifications of pathogenicity
Select item 689488	NM_000372.5(TYR):c.121G>A (p.Gly41Arg)	TYR (G41R)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +2 more	GLikely pathogenic
Select item 637017	NM_000372.5(TYR):c.1456del (p.Ala486fs)	TYR (A486fs)	Deletion (frameshift variant)	Tyrosinase-negative oculocutaneous albinism	GPathogenic
Select item 627598	NC_000011.9:g.(88911941_88911969)_(88961139_89017940)del	TYR	Deletion	Tyrosinase-negative oculocutaneous albinism	GPathogenic
Select item 627597	NM_000372.5(TYR):c.1198T>A (p.Trp400Arg)	TYR (W400R)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism	GLikely pathogenic
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 627595	NM_000372.5(TYR):c.529G>C (p.Val177Leu)	TYR (V177L)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism	GLikely pathogenic
Select item 627594	NM_000372.5(TYR):c.157G>T (p.Gly53Cys)	TYR (G53C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 625851	NM_000372.5(TYR):c.1110G>A (p.Met370Ile)	TYR (M370I)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism	GPathogenic
Select item 620587	NM_000372.5(TYR):c.714G>A (p.Trp238Ter)	TYR (W238*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 617794	NM_000372.5(TYR):c.164G>C (p.Cys55Ser)	TYR (C55S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 596867	NM_000372.5(TYR):c.1037-2A>G	TYR	Single nucleotide variant (splice acceptor variant)	not provided +1 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 585290	NM_000372.5(TYR):c.387_389delinsGG (p.Glu130fs)	TYR (E130fs)	Indel (frameshift variant)	Tyrosinase-negative oculocutaneous albinism	GPathogenic
Select item 585282	NM_000372.5(TYR):c.1267del (p.Glu423fs)	TYR (E423fs)	Deletion (frameshift variant)	Tyrosinase-negative oculocutaneous albinism	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 523363	NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys)	TYR (Y451C)	Single nucleotide variant (missense variant)	not provided +10 more	GPathogenic/Likely pathogenic
Select item 499705	NM_000372.5(TYR):c.665T>C (p.Ile222Thr)	TYR (I222T)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +3 more	GConflicting classifications of pathogenicity
Select item 499569	NM_000372.5(TYR):c.1446G>C (p.Ala482=)	TYR	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism +2 more	GUncertain significance
Select item 497973	NM_000372.5(TYR):c.1392dup (p.Lys465Ter)	TYR (K465*)	Duplication (nonsense)	Oculocutaneous albinism type 1B +3 more	GLikely 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 449541	NM_000372.5(TYR):c.116G>A (p.Trp39Ter)	TYR (W39*)	Single nucleotide variant (nonsense)	Tyrosinase-negative oculocutaneous albinism +1 more	GPathogenic/Likely pathogenic
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 437986	NM_000372.5(TYR):c.1037G>T (p.Gly346Val)	TYR (G346V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
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 437181	NM_000372.5(TYR):c.452T>G (p.Ile151Ser)	TYR (I151S)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism	GLikely pathogenic
Select item 437179	NM_000372.5(TYR):c.1036G>T (p.Gly346Ter)	TYR (G346*)	Single nucleotide variant (nonsense)	not provided +2 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 437175	NM_000372.5(TYR):c.753C>A (p.Tyr251Ter)	TYR (Y251*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 437174	NM_000372.5(TYR):c.101A>C (p.Glu34Ala)	TYR (E34A)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism	GLikely pathogenic
Select item 424730	NM_000372.4(TYR):c.[1276_1282delATGGTTC];[139G>A]			Tyrosinase-negative oculocutaneous albinism	GLikely pathogenic
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 379657	NM_000372.5(TYR):c.976C>T (p.Gln326Ter)	TYR (Q326*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 373911	NM_000372.5(TYR):c.74dup (p.Ser26fs)	TYR (S26fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 288251	NM_000372.5(TYR):c.504C>T (p.Asn168=)	TYR	Single nucleotide variant (synonymous variant)	TYR-related condition +3 more	GConflicting classifications of pathogenicity
Select item 212705	NM_000372.5(TYR):c.580del (p.Ile194fs)	TYR (I194fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 212523	NM_000372.5(TYR):c.658C>T (p.Gln220Ter)	TYR (Q220*)	Single nucleotide variant (nonsense)	not provided +1 more	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 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 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 196258	NM_000372.5(TYR):c.1067A>T (p.Asp356Val)	TYR (D356V)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +3 more	GUncertain significance
Select item 144106	NM_000372.5(TYR):c.739T>C (p.Cys247Arg)	TYR (C247R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 144105	NM_000372.5(TYR):c.551C>G (p.Ser184Ter)	TYR (S184*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 1B +1 more	GLikely pathogenic
Select item 144104	NM_000372.5(TYR):c.163T>G (p.Cys55Gly)	TYR (C55G)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1B +1 more	Gnot provided
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 99585	NM_000372.5(TYR):c.875C>T (p.Thr292Met)	TYR (T292M)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +3 more	GUncertain significance
Select item 99583	NM_000372.5(TYR):c.832C>T (p.Arg278Ter)	TYR (R278*)	Single nucleotide variant (nonsense)	TYR-related condition +6 more	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 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 99575	NM_000372.5(TYR):c.650G>A (p.Arg217Gln)	TYR (R217Q)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +3 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 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 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 99563	NM_000372.5(TYR):c.338_339del (p.Thr113fs)	TYR (T113fs)	Microsatellite (frameshift variant)	not provided +1 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 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 99542	NM_000372.5(TYR):c.1204C>T (p.Arg402Ter)	TYR (R402*)	Single nucleotide variant (nonsense)	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 99534	NM_000372.5(TYR):c.1111A>T (p.Asn371Tyr)	TYR (N371Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 99532	NM_000372.5(TYR):c.1100A>G (p.His367Arg)	TYR (H367R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 99527	NM_000372.5(TYR):c.1037-7T>A	TYR	Single nucleotide variant (intron variant)	TYR-related condition +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 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 3807	NM_000372.5(TYR):c.1A>G (p.Met1Val)	TYR (M1V)	Single nucleotide variant (missense variant +1 more)	Foveal hypoplasia +18 more	GPathogenic/Likely pathogenic
Select item 3806	NM_000372.5(TYR):c.646T>A (p.Leu216Met)	TYR (L216M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 3804	NM_000372.5(TYR):c.1501dup (p.Arg501fs)	TYR (R501fs)	Duplication (frameshift variant)	Tyrosinase-negative oculocutaneous albinism	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
Select item 3802	NM_000372.5(TYR):c.1342G>A (p.Asp448Asn)	TYR (D448N)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 3799	NM_000372.5(TYR):c.1164del (p.His389fs)	TYR (H389fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3798	NM_000372.5(TYR):c.1112A>C (p.Asn371Thr)	TYR (N371T)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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