ClinVar for Gene (Select 7299) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336566	NM_000372.5(TYR):c.902C>G (p.Pro301Arg)	TYR (P301R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3335986	NM_000372.5(TYR):c.1082G>A (p.Ser361Asn)	TYR (S361N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330426	NM_000372.5(TYR):c.1175T>C (p.Phe392Ser)	TYR (F392S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330425	NM_000372.5(TYR):c.1445C>T (p.Ala482Val)	TYR (A482V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3251628	NM_000372.5(TYR):c.613C>T (p.Pro205Ser)	TYR (P205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251339	NM_000372.5(TYR):c.553A>G (p.Met185Val)	TYR (M185V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244731	NC_000011.9:g.(?_88924350)_(88961158_?)del	TYR	Deletion	not provided	GPathogenic
Select item 3244730	NC_000011.9:g.(?_88911122)_(88961158_?)del	TYR	Deletion	not provided	GPathogenic
Select item 3240680	NM_000372.5(TYR):c.884del (p.Gly295fs)	TYR (G295fs)	Deletion (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	GLikely pathogenic
Select item 3240679	NM_000372.5(TYR):c.693del (p.Phe231fs)	TYR (F231fs)	Deletion (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	GLikely pathogenic
Select item 3240678	NM_000372.5(TYR):c.301G>T (p.Gly101Ter)	TYR (G101*)	Single nucleotide variant (nonsense)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	GLikely pathogenic
Select item 3240677	NM_000372.5(TYR):c.1214del (p.Arg405fs)	TYR (R405fs)	Deletion (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	GLikely pathogenic
Select item 3240676	NM_000372.5(TYR):c.446_447del (p.Tyr149fs)	TYR (Y149fs)	Deletion (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	GPathogenic
Select item 3240675	NM_000372.5(TYR):c.820-2A>G	TYR	Single nucleotide variant (splice acceptor variant)	SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	GLikely pathogenic
Select item 3233837	NM_000372.5(TYR):c.994A>T (p.Met332Leu)	TYR (M332L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3185255	NM_000372.5(TYR):c.419T>C (p.Leu140Ser)	TYR (L140S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185252	NM_000372.5(TYR):c.401T>C (p.Phe134Ser)	TYR (F134S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185251	NM_000372.5(TYR):c.1429T>C (p.Trp477Arg)	TYR (W477R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185250	NM_000372.5(TYR):c.1397C>A (p.Ser466Tyr)	TYR (S466Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185249	NM_000372.5(TYR):c.1306G>A (p.Gly436Ser)	TYR (G436S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185248	NM_000372.5(TYR):c.1186A>G (p.Ile396Val)	TYR (I396V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3063876	NM_000372.5(TYR):c.1556_1557del (p.Glu519fs)	TYR (E519fs)	Microsatellite (frameshift variant)	not specified	GUncertain significance
Select item 3061191	NM_000372.5(TYR):c.638T>C (p.Leu213Pro)	TYR (L213P)	Single nucleotide variant (missense variant)	TYR-related disorder	GUncertain significance
Select item 3037622	NM_000372.5(TYR):c.1037-21dup	TYR	Duplication (intron variant)	TYR-related disorder	GBenign
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 3023352	NM_000372.5(TYR):c.753C>T (p.Tyr251=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021676	NM_000372.5(TYR):c.999T>C (p.Asp333=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010526	NM_000372.5(TYR):c.507C>T (p.Asp169=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006707	NM_000372.5(TYR):c.1366+12T>C	TYR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006634	NM_000372.5(TYR):c.783C>T (p.Asn261=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005937	NM_000372.5(TYR):c.713G>A (p.Trp238Ter)	TYR (W238*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3005695	NM_000372.5(TYR):c.1184+18T>G	TYR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004374	NM_000372.5(TYR):c.820-15G>T	TYR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000471	NM_000372.5(TYR):c.696del (p.Ile233fs)	TYR (I233fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2995881	NM_000372.5(TYR):c.696T>C (p.Thr232=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993357	NM_000372.5(TYR):c.1317T>C (p.Phe439=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993202	NM_000372.5(TYR):c.285C>T (p.Phe95=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993081	NM_000372.5(TYR):c.231_232delinsCT (p.Glu78Ter)	TYR (E78*)	Indel (nonsense)	not provided	GPathogenic
Select item 2991113	NM_000372.5(TYR):c.372C>T (p.Phe124=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989319	NM_000372.5(TYR):c.838G>T (p.Glu280Ter)	TYR (E280*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2985958	NM_000372.5(TYR):c.1059G>A (p.Gly353=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984775	NM_000372.5(TYR):c.1366+11C>G	TYR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984621	NM_000372.5(TYR):c.633T>C (p.His211=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984065	NM_000372.5(TYR):c.1185-14C>A	TYR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980177	NM_000372.5(TYR):c.1224A>G (p.Gln408=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980102	NM_000372.5(TYR):c.564G>C (p.Leu188=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978957	NM_000372.5(TYR):c.819+18T>C	TYR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978695	NM_000372.5(TYR):c.1366+20A>G	TYR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976214	NM_000372.5(TYR):c.1366+19del	TYR	Deletion (intron variant)	not provided	GLikely benign
Select item 2975712	NM_000372.5(TYR):c.27G>A (p.Leu9=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974600	NM_000372.5(TYR):c.1146C>T (p.Asn382=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972151	NM_000372.5(TYR):c.138T>C (p.Cys46=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965305	NM_000372.5(TYR):c.819+11C>T	TYR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964874	NM_000372.5(TYR):c.924A>G (p.Arg308=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910282	NM_000372.5(TYR):c.571G>T (p.Gly191Ter)	TYR (G191*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2909506	NM_000372.5(TYR):c.606T>C (p.His202=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907618	NM_000372.5(TYR):c.351C>A (p.Leu117=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907416	NM_000372.5(TYR):c.653G>A (p.Trp218Ter)	TYR (W218*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2902825	NM_000372.5(TYR):c.726A>G (p.Glu242=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899498	NM_000372.5(TYR):c.1322C>A (p.Ser441Ter)	TYR (S441*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2897247	NM_000372.5(TYR):c.879C>T (p.Pro293=)	TYR	Single nucleotide variant (synonymous variant)	TYR-related disorder +1 more	GLikely benign
Select item 2889464	NM_000372.5(TYR):c.1020T>C (p.Phe340=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885164	NM_000372.5(TYR):c.1036+9T>C	TYR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882929	NM_000372.5(TYR):c.981T>C (p.Tyr327=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879848	NM_000372.5(TYR):c.624G>T (p.Leu208=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879139	NM_000372.5(TYR):c.1032G>A (p.Leu344=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878655	NM_000372.5(TYR):c.354G>A (p.Leu118=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876185	NM_000372.5(TYR):c.687A>G (p.Glu229=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874378	NM_000372.5(TYR):c.1293A>G (p.Pro431=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874048	NM_000372.5(TYR):c.1037-15T>A	TYR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872487	NM_000372.5(TYR):c.815G>T (p.Trp272Leu)	TYR (W272L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2869638	NM_000372.5(TYR):c.540T>C (p.His180=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865805	NM_000372.5(TYR):c.1338C>T (p.Gly446=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2864084	NM_000372.5(TYR):c.1119A>G (p.Thr373=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856453	NM_000372.5(TYR):c.489A>G (p.Ser163=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853404	NM_000372.5(TYR):c.1323A>C (p.Ser441=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853251	NM_000372.5(TYR):c.276del (p.Gly93fs)	TYR (G93fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2852097	NM_000372.5(TYR):c.620T>G (p.Phe207Cys)	TYR (F207C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850519	NM_000372.5(TYR):c.99G>A (p.Lys33=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850252	NM_000372.5(TYR):c.831C>T (p.Ser277=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848425	NM_000372.5(TYR):c.1350C>T (p.Ser450=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847521	NM_000372.5(TYR):c.198G>C (p.Gly66=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847322	NM_000372.5(TYR):c.1089C>T (p.His363=)	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 2845645	NM_000372.5(TYR):c.189A>G (p.Ala63=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845258	NM_000372.5(TYR):c.723A>G (p.Ala241=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844109	NM_000372.5(TYR):c.1225G>T (p.Glu409Ter)	TYR (E409*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2843574	NM_000372.5(TYR):c.586A>C (p.Arg196=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842137	NM_000372.5(TYR):c.1131A>G (p.Val377=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841545	NM_000372.5(TYR):c.1209G>A (p.Arg403=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841403	NM_000372.5(TYR):c.404_621del (p.Phe135fs)	TYR (F135fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2839924	NM_000372.5(TYR):c.528T>C (p.Phe176=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832923	NM_000372.5(TYR):c.1184+1G>C	TYR	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2829689	NM_000372.5(TYR):c.1037-17T>A	TYR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829371	NM_000372.5(TYR):c.351C>T (p.Leu117=)	TYR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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