ClinVar for Gene (Select 7306) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336859	NM_000550.3(TYRP1):c.923_927dup (p.Pro310fs)	LURAP1L-AS1, TYRP1 (P310fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3336274	NM_000550.3(TYRP1):c.88T>C (p.Cys30Arg)	TYRP1 (C30R)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3	GLikely pathogenic
Select item 3330433	NM_000550.3(TYRP1):c.458G>A (p.Arg153His)	TYRP1 (R153H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330432	NM_000550.3(TYRP1):c.106T>A (p.Leu36Met)	TYRP1 (L36M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330431	NM_000550.3(TYRP1):c.520G>A (p.Gly174Ser)	TYRP1 (G174S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245288	NC_000009.11:g.(?_12707977)_(12709182_?)del	TYRP1	Deletion	not provided	GPathogenic
Select item 3245287	NC_000009.11:g.(?_12702251)_(12704725_?)del	TYRP1	Deletion	not provided	GPathogenic
Select item 3245286	NC_000009.11:g.(?_12695495)_(12698675_?)del	TYRP1	Deletion	not provided	GPathogenic
Select item 3245285	NC_000009.11:g.(?_12693997)_(12709182_?)del	TYRP1	Deletion	not provided	GPathogenic
Select item 3233895	NM_000550.3(TYRP1):c.1565A>C (p.Tyr522Ser)	LURAP1L-AS1, TYRP1 (Y522S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185271	NM_000550.3(TYRP1):c.820T>C (p.Ser274Pro)	TYRP1 (S274P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185270	NM_000550.3(TYRP1):c.604G>A (p.Gly202Arg)	TYRP1 (G202R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185269	NM_000550.3(TYRP1):c.454A>G (p.Lys152Glu)	TYRP1 (K152E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185268	NM_000550.3(TYRP1):c.362C>T (p.Ala121Val)	TYRP1 (A121V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185267	NM_000550.3(TYRP1):c.211G>A (p.Asp71Asn)	TYRP1 (D71N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063080	GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1	AK3, BRD10 +47 more	Copy number loss	not specified	GPathogenic
Select item 3063079	GRCh37/hg19 9p23(chr9:12675024-12759352)x1	TYRP1	Copy number loss	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 3023912	NM_000550.3(TYRP1):c.999C>T (p.Val333=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023701	NM_000550.3(TYRP1):c.708+17T>C	TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023333	NM_000550.3(TYRP1):c.1081+19T>C	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021800	NM_000550.3(TYRP1):c.1506T>C (p.Arg502=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011879	NM_000550.3(TYRP1):c.1542C>T (p.Leu514=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010127	NM_000550.3(TYRP1):c.1098G>A (p.Thr366=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002092	NM_000550.3(TYRP1):c.1230_1233dup (p.Asp412delinsLeuTer)	LURAP1L-AS1, TYRP1	Duplication (nonsense)	not provided	GPathogenic
Select item 3001864	NM_000550.3(TYRP1):c.297T>A (p.Cys99Ter)	TYRP1 (C99*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3001678	NM_000550.3(TYRP1):c.9T>C (p.Ala3=)	TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999420	NM_000550.3(TYRP1):c.1566T>C (p.Tyr522=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999298	NM_000550.3(TYRP1):c.927G>T (p.Gly309=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998978	NM_000550.3(TYRP1):c.1081+19T>G	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998872	NM_000550.3(TYRP1):c.1554G>A (p.Gln518=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998841	NM_000550.3(TYRP1):c.651A>G (p.Gly217=)	TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997826	NM_000550.3(TYRP1):c.261G>C (p.Arg87=)	TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997083	NM_000550.3(TYRP1):c.914-17C>G	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995945	NM_000550.3(TYRP1):c.1081+7A>C	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993993	NM_000550.3(TYRP1):c.1261+18G>A	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993729	NM_000550.3(TYRP1):c.709-17T>C	TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993301	NM_000550.3(TYRP1):c.1409-18_1409-17insATCT	LURAP1L-AS1, TYRP1	Insertion (intron variant)	not provided	GLikely benign
Select item 2993195	NM_000550.3(TYRP1):c.927del (p.Pro310fs)	LURAP1L-AS1, TYRP1 (P310fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2991961	NM_000550.3(TYRP1):c.246T>C (p.Asp82=)	TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978723	NM_000550.3(TYRP1):c.1179G>A (p.Leu393=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978114	NM_000550.3(TYRP1):c.1409-18_1409-17insATA	TYRP1, LURAP1L-AS1	Insertion (intron variant)	not provided	GLikely benign
Select item 2976922	NM_000550.3(TYRP1):c.1401A>G (p.Gln467=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976322	NM_000550.3(TYRP1):c.418dup (p.Glu140fs)	TYRP1 (E140fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2975620	NM_000550.3(TYRP1):c.1262-8T>C	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974703	NM_000550.3(TYRP1):c.1242G>A (p.Trp414Ter)	LURAP1L-AS1, TYRP1 (W414*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2974223	NM_000550.3(TYRP1):c.1135T>C (p.Leu379=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974085	NM_000550.3(TYRP1):c.1409-11T>C	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974034	NM_000550.3(TYRP1):c.864G>A (p.Val288=)	TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972760	NM_000550.3(TYRP1):c.444G>A (p.Leu148=)	TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969683	NM_000550.3(TYRP1):c.411_415del (p.Ser137fs)	TYRP1 (S137fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2968358	NM_000550.3(TYRP1):c.1082-10A>G	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965449	NM_000550.3(TYRP1):c.351del (p.Gly116_Trp117insTer)	TYRP1	Deletion (nonsense)	not provided	GPathogenic
Select item 2959413	NM_000550.3(TYRP1):c.386-20T>C	TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959349	NM_000550.3(TYRP1):c.1464A>G (p.Leu488=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958275	NM_000550.3(TYRP1):c.894C>T (p.Thr298=)	TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957665	NM_000550.3(TYRP1):c.621C>T (p.Ser207=)	TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956109	NM_000550.3(TYRP1):c.996T>C (p.Asp332=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956045	NM_000550.3(TYRP1):c.1455C>A (p.Gly485=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954671	NM_000550.3(TYRP1):c.913+12A>T	TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905702	NM_000550.3(TYRP1):c.336G>T (p.Thr112=)	TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905376	NM_000550.3(TYRP1):c.1572_1575dup (p.Tyr526fs)	LURAP1L-AS1, TYRP1 (Y526fs)	Duplication (frameshift variant)	not provided	GLikely benign
Select item 2903561	NM_000550.3(TYRP1):c.1140T>A (p.Ala380=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903508	NM_000550.3(TYRP1):c.1293del (p.Ile432fs)	LURAP1L-AS1, TYRP1 (I432fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2899218	NM_000550.3(TYRP1):c.708+7A>G	TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896400	NM_000550.3(TYRP1):c.177A>T (p.Ser59=)	TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890802	NM_000550.3(TYRP1):c.1131C>T (p.His377=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884444	NM_000550.3(TYRP1):c.708+9G>C	TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2883330	NM_000550.3(TYRP1):c.423G>A (p.Lys141=)	TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880939	NM_000550.3(TYRP1):c.386-6C>T	TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880624	NM_000550.3(TYRP1):c.1326A>G (p.Pro442=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879399	NM_000550.3(TYRP1):c.975A>G (p.Gln325=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878678	NM_000550.3(TYRP1):c.1191T>C (p.Asp397=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876818	NM_000550.3(TYRP1):c.330_331del (p.Cys110fs)	TYRP1 (C110fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2875466	NM_000550.3(TYRP1):c.708+16T>G	TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874632	NM_000550.3(TYRP1):c.1262-18G>T	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874204	NM_000550.3(TYRP1):c.1082-5T>C	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873690	NM_000550.3(TYRP1):c.1146A>G (p.Leu382=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872392	NM_000550.3(TYRP1):c.201A>T (p.Ala67=)	TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872370	NM_000550.3(TYRP1):c.1261+19C>A	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871921	NM_000550.3(TYRP1):c.186G>A (p.Arg62=)	TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871726	NM_000550.3(TYRP1):c.1408+18_1408+21dup	LURAP1L-AS1, TYRP1	Duplication (intron variant)	not provided	GLikely benign
Select item 2870854	NM_000550.3(TYRP1):c.288T>C (p.Asn96=)	TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869239	NM_000550.3(TYRP1):c.1341C>T (p.Val447=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868114	NM_000550.3(TYRP1):c.750T>C (p.Asn250=)	TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867245	NM_000550.3(TYRP1):c.1155T>C (p.Asn385=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866345	NM_000550.3(TYRP1):c.747G>A (p.Trp249Ter)	TYRP1 (W249*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2865365	NM_000550.3(TYRP1):c.160_161del (p.Asp54fs)	TYRP1 (D54fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2863706	NM_000550.3(TYRP1):c.913+12A>G	TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862293	NM_000550.3(TYRP1):c.386-17A>C	TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861799	NM_000550.3(TYRP1):c.1409-19T>A	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859882	NM_000550.3(TYRP1):c.647_668del (p.Glu216fs)	TYRP1 (E216fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2859670	NM_000550.3(TYRP1):c.709-19T>C	TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859359	NM_000550.3(TYRP1):c.1262-1_1262delinsTG	LURAP1L-AS1, TYRP1	Indel (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2858076	NM_000550.3(TYRP1):c.1081+13A>C	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857933	NM_000550.3(TYRP1):c.899del (p.Gly300fs)	TYRP1 (G300fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2853469	NM_000550.3(TYRP1):c.1081+10T>C	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853252	NM_000550.3(TYRP1):c.1500G>C (p.Leu500=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850492	NM_000550.3(TYRP1):c.1344C>G (p.Thr448=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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