TYR[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 145456	GRCh38/hg38 11q14.3(chr11:88744329-89285175)x1	GRM5, LOC107080646 +1 more	Copy number loss	See cases	GUncertain significance
Select item 99523	NM_000372.4(TYR):c.-802_-801insGAGAGGGAGA	TYR	Microsatellite	not provided	Gnot provided
Select item 99522	NM_000372.4(TYR):c.-692_-691insC	TYR	Duplication	not provided	Gnot provided
Select item 99521	NM_000372.4(TYR):c.-683_-682insG	TYR	Duplication	not provided	Gnot provided
Select item 1293219	NC_000011.10:g.89177653C>T	TYR	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 3783	NM_000372.2(TYR):c.-199C>A	TYR	Single nucleotide variant	not provided	GBenign
Select item 306441	NM_000372.5(TYR):c.-41A>G	TYR	Single nucleotide variant (5 prime UTR 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 255955	NM_000372.5(TYR):c.-10T>C	TYR	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 127112	NM_000372.5(TYR):c.-9_-7delinsGG	TYR	Indel (5 prime UTR variant)	not provided	GUncertain significance
Select item 3807	NM_000372.5(TYR):c.1A>G (p.Met1Val)	TYR (M1V)	Single nucleotide variant (missense variant +1 more)	Myopia +18 more	GPathogenic/Likely pathogenic
Select item 99561	NM_000372.5(TYR):c.2T>C (p.Met1Thr)	TYR (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2747673	NM_000372.5(TYR):c.9G>T (p.Leu3=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2107813	NM_000372.5(TYR):c.11C>T (p.Ala4Val)	TYR (A4V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782251	NM_000372.5(TYR):c.21C>T (p.Tyr7=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1484062	NM_000372.5(TYR):c.23G>A (p.Cys8Tyr)	TYR (C8Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 99558	NM_000372.5(TYR):c.25del (p.Leu9fs)	TYR (L9fs)	Deletion (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	GPathogenic
Select item 1338404	NM_000372.5(TYR):c.26T>C (p.Leu9Pro)	TYR (L9P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2975712	NM_000372.5(TYR):c.27G>A (p.Leu9=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846528	NM_000372.5(TYR):c.30G>T (p.Leu10=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1469240	NM_000372.5(TYR):c.44C>T (p.Thr15Ile)	TYR (T15I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1596806	NM_000372.5(TYR):c.48C>T (p.Ser16=)	TYR	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1299917	NM_000372.5(TYR):c.51T>C (p.Ala17=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 99569	NM_000372.5(TYR):c.53del (p.Gly18fs)	TYR (G18fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 752505	NM_000372.5(TYR):c.57T>C (p.His19=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 99571	NM_000372.5(TYR):c.57T>A (p.His19Gln)	TYR (H19Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3336133	NM_000372.5(TYR):c.61C>A (p.Pro21Thr)	TYR (P21T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3793	NM_000372.5(TYR):c.61C>T (p.Pro21Ser)	TYR (P21S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1449610	NM_000372.5(TYR):c.65G>C (p.Arg22Thr)	TYR (R22T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 882561	NM_000372.5(TYR):c.67G>A (p.Ala23Thr)	TYR (A23T)	Single nucleotide variant (missense variant)	Oculocutaneous albinism +1 more	GUncertain significance
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 1390436	NM_000372.5(TYR):c.71G>A (p.Cys24Tyr)	TYR (C24Y)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1622634	NM_000372.5(TYR):c.72T>C (p.Cys24=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3185256	NM_000372.5(TYR):c.73G>C (p.Val25Leu)	TYR (V25L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 373911	NM_000372.5(TYR):c.74dup (p.Ser26fs)	TYR (S26fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 2126395	NM_000372.5(TYR):c.74T>C (p.Val25Ala)	TYR (V25A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1651401	NM_000372.5(TYR):c.75C>A (p.Val25=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2137221	NM_000372.5(TYR):c.87C>A (p.Asn29Lys)	TYR (N29K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2823110	NM_000372.5(TYR):c.88C>T (p.Leu30=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2709371	NM_000372.5(TYR):c.90G>A (p.Leu30=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2694528	NM_000372.5(TYR):c.90G>T (p.Leu30=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1447050	NM_000372.5(TYR):c.94G>T (p.Glu32Ter)	TYR (E32*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1981163	NM_000372.5(TYR):c.96G>A (p.Glu32=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498161	NM_000372.5(TYR):c.97A>G (p.Lys33Glu)	TYR (K33E)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 1B	GLikely pathogenic
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 2850519	NM_000372.5(TYR):c.99G>A (p.Lys33=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 99530	NM_000372.5(TYR):c.107G>A (p.Cys36Tyr)	TYR (C36Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2864954	NM_000372.5(TYR):c.110C>G (p.Pro37Arg)	TYR (P37R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476289	NM_000372.5(TYR):c.112C>G (p.Pro38Ala)	TYR (P38A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434645	NM_000372.5(TYR):c.112C>A (p.Pro38Thr)	TYR (P38T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379612	NM_000372.5(TYR):c.113C>T (p.Pro38Leu)	TYR (P38L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775732	NM_000372.5(TYR):c.114G>T (p.Pro38=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 255956	NM_000372.5(TYR):c.114G>A (p.Pro38=)	TYR	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism +2 more	GBenign/Likely benign
Select item 449541	NM_000372.5(TYR):c.116G>A (p.Trp39Ter)	TYR (W39*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1905775	NM_000372.5(TYR):c.119G>A (p.Ser40Asn)	TYR (S40N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1596386	NM_000372.5(TYR):c.120C>T (p.Ser40=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 689488	NM_000372.5(TYR):c.121G>A (p.Gly41Arg)	TYR (G41R)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 2763670	NM_000372.5(TYR):c.123G>A (p.Gly41=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2137222	NM_000372.5(TYR):c.124G>A (p.Asp42Asn)	TYR (D42N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 2034242	NM_000372.5(TYR):c.126C>T (p.Asp42=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2235211	NM_000372.5(TYR):c.127A>G (p.Arg43Gly)	TYR (R43G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2081660	NM_000372.5(TYR):c.129G>A (p.Arg43=)	TYR	Single nucleotide variant (synonymous variant)	TYR-related disorder +1 more	GLikely benign
Select item 2735719	NM_000372.5(TYR):c.135dup (p.Cys46fs)	TYR (C46fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1066111	NM_000372.5(TYR):c.132T>A (p.Ser44Arg)	TYR (S44R)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +1 more	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 2135013	NM_000372.5(TYR):c.133C>T (p.Pro45Ser)	TYR (P45S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175319	NM_000372.5(TYR):c.134C>T (p.Pro45Leu)	TYR (P45L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3251833	NM_000372.5(TYR):c.137G>C (p.Cys46Ser)	TYR (C46S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2972151	NM_000372.5(TYR):c.138T>C (p.Cys46=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 620388	NM_000372.5(TYR):c.138T>A (p.Cys46Ter)	TYR (C46*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 242611	NM_000372.4(TYR):c.139G>A	TYR (G47S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3794	NM_000372.5(TYR):c.140G>A (p.Gly47Asp)	TYR (G47D)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 2745769	NM_000372.5(TYR):c.148del (p.Ser50fs)	TYR (S50fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1284580	NM_000372.5(TYR):c.149C>T (p.Ser50Leu)	TYR (S50L)	Single nucleotide variant (missense variant)	TYR-related disorder	GUncertain significance
Select item 99550	NM_000372.5(TYR):c.149C>G (p.Ser50Ter)	TYR (S50*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 2052838	NM_000372.5(TYR):c.153C>A (p.Gly51=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2137223	NM_000372.5(TYR):c.155G>C (p.Arg52Thr)	TYR (R52T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 627594	NM_000372.5(TYR):c.157G>T (p.Gly53Cys)	TYR (G53C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2434418	NM_000372.5(TYR):c.158G>T (p.Gly53Val)	TYR (G53V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2578664	NM_000372.5(TYR):c.163T>C (p.Cys55Arg)	TYR (C55R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 144104	NM_000372.5(TYR):c.163T>G (p.Cys55Gly)	TYR (C55G)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +1 more	Gnot provided
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 3790	NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)	TYR (C55Y)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +5 more	GPathogenic
Select item 623787	NM_000372.5(TYR):c.174C>G (p.Ile58Met)	TYR (I58M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1503865	NM_000372.5(TYR):c.175C>T (p.Leu59Phe)	TYR (L59F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 255957	NM_000372.5(TYR):c.178C>T (p.Leu60=)	TYR	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism +2 more	GBenign
Select item 1578899	NM_000372.5(TYR):c.180G>A (p.Leu60=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811895	NM_000372.5(TYR):c.183C>T (p.Ser61=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1379578	NM_000372.5(TYR):c.185A>G (p.Asn62Ser)	TYR (N62S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2845645	NM_000372.5(TYR):c.189A>G (p.Ala63=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 746287	NM_000372.5(TYR):c.192A>C (p.Pro64=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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