ClinVar for Gene (Select 101929467) - 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 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 3121562	NM_203403.2(LURAP1L):c.85C>A (p.Arg29Ser)	LURAP1L, LURAP1L-AS1 (R29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121559	NM_203403.2(LURAP1L):c.191G>A (p.Ser64Asn)	LURAP1L, LURAP1L-AS1 (S64N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121558	NM_203403.2(LURAP1L):c.170G>A (p.Ser57Asn)	LURAP1L, LURAP1L-AS1 (S57N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121557	NM_203403.2(LURAP1L):c.131G>C (p.Gly44Ala)	LURAP1L, LURAP1L-AS1 (G44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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)	TYRP1, LURAP1L-AS1	Duplication (nonsense)	not provided	GPathogenic
Select item 2999420	NM_000550.3(TYRP1):c.1566T>C (p.Tyr522=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided +1 more	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 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 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 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	LURAP1L-AS1, TYRP1	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 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 2968358	NM_000550.3(TYRP1):c.1082-10A>G	LURAP1L-AS1, 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 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 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 2890802	NM_000550.3(TYRP1):c.1131C>T (p.His377=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous 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 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 2872370	NM_000550.3(TYRP1):c.1261+19C>A	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron 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 2869239	NM_000550.3(TYRP1):c.1341C>T (p.Val447=)	LURAP1L-AS1, 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 2861799	NM_000550.3(TYRP1):c.1409-19T>A	LURAP1L-AS1, 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 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
Select item 2848386	NM_000550.3(TYRP1):c.1149C>T (p.Phe383=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845375	NM_000550.3(TYRP1):c.1497T>C (p.Tyr499=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837649	NM_000550.3(TYRP1):c.1473A>G (p.Ala491=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836636	NM_000550.3(TYRP1):c.1542C>G (p.Leu514=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832367	NM_000550.3(TYRP1):c.1261+1G>T	LURAP1L-AS1, TYRP1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2831052	NM_000550.3(TYRP1):c.1166del (p.Gly389fs)	LURAP1L-AS1, TYRP1 (G389fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2827260	NM_000550.3(TYRP1):c.1344C>T (p.Thr448=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826014	NM_000550.3(TYRP1):c.1262-11G>T	TYRP1, LURAP1L-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823998	NM_000550.3(TYRP1):c.1551T>C (p.Asp517=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819775	NM_000550.3(TYRP1):c.1408+18A>G	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819192	NM_000550.3(TYRP1):c.1002T>A (p.Ala334=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816569	NM_000550.3(TYRP1):c.1408+16G>C	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816169	NM_000550.3(TYRP1):c.1408+10G>C	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813640	NM_000550.3(TYRP1):c.1210_1261del (p.His404fs)	LURAP1L-AS1, TYRP1 (H404fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2811574	NM_000550.3(TYRP1):c.1408+9T>A	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810330	NM_000550.3(TYRP1):c.1261+9T>C	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803867	NM_000550.3(TYRP1):c.1120C>A (p.Arg374=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799802	NM_000550.3(TYRP1):c.1101A>G (p.Gly367=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793036	NM_000550.3(TYRP1):c.1082-20C>T	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792684	NM_000550.3(TYRP1):c.1261+15T>C	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792135	NM_000550.3(TYRP1):c.1392T>C (p.Tyr464=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785340	NM_000550.3(TYRP1):c.1218C>T (p.Phe406=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779488	NM_000550.3(TYRP1):c.1164G>A (p.Gly388=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778525	NM_000550.3(TYRP1):c.914-17C>T	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2775984	NM_000550.3(TYRP1):c.1143T>C (p.His381=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2768158	NM_000550.3(TYRP1):c.914-16C>A	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766098	NM_000550.3(TYRP1):c.997_998del (p.Val333fs)	LURAP1L-AS1, TYRP1 (V333fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2761539	NM_000550.3(TYRP1):c.1146A>C (p.Leu382=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759530	NM_000550.3(TYRP1):c.936G>A (p.Arg312=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748154	NM_000550.3(TYRP1):c.1596T>C (p.Pro532=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2735589	NM_000550.3(TYRP1):c.1440C>A (p.Ala480=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2735263	NM_000550.3(TYRP1):c.1584del (p.Lys528fs)	LURAP1L-AS1, TYRP1 (K528fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2726898	NM_000550.3(TYRP1):c.1104G>A (p.Lys368=)	TYRP1, LURAP1L-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725385	NM_000550.3(TYRP1):c.984T>C (p.Pro328=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713929	NM_000550.3(TYRP1):c.1409-8C>A	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2712399	NM_000550.3(TYRP1):c.1596T>G (p.Pro532=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712376	NM_000550.3(TYRP1):c.1314C>T (p.Tyr438=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708303	NM_000550.3(TYRP1):c.1335C>A (p.Pro445=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2702870	NM_000550.3(TYRP1):c.1035T>G (p.Pro345=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696685	NM_000550.3(TYRP1):c.1305T>C (p.Asn435=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627395	NM_000550.3(TYRP1):c.1408+5G>C	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	Oculocutaneous albinism type 3	GUncertain significance
Select item 2550692	NM_000550.3(TYRP1):c.1378C>G (p.Leu460Val)	LURAP1L-AS1, TYRP1 (L460V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2421422	NM_000550.3(TYRP1):c.1319T>A (p.Met440Lys)	LURAP1L-AS1, TYRP1 (M440K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412368	NM_000550.3(TYRP1):c.1598A>G (p.Asn533Ser)	LURAP1L-AS1, TYRP1 (N533S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403974	NM_203403.2(LURAP1L):c.169A>G (p.Ser57Gly)	LURAP1L, LURAP1L-AS1 (S57G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389749	NM_203403.2(LURAP1L):c.181A>T (p.Ser61Cys)	LURAP1L, LURAP1L-AS1 (S61C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388479	NM_203403.2(LURAP1L):c.181A>C (p.Ser61Arg)	LURAP1L, LURAP1L-AS1 (S61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388232	NM_203403.2(LURAP1L):c.178A>T (p.Ser60Cys)	LURAP1L, LURAP1L-AS1 (S60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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