LARS2-AS1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 139

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1188324	NM_015340.4(LARS2):c.1019-218T>A	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243776	NM_015340.4(LARS2):c.1019-189G>A	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676142	NM_015340.4(LARS2):c.1019-85C>G	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2985596	NM_015340.4(LARS2):c.1019-17T>C	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2010353	NM_015340.4(LARS2):c.1019-12T>C	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911570	NM_015340.4(LARS2):c.1027A>G (p.Thr343Ala)	LARS2, LARS2-AS1 (T343A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169510	NM_015340.4(LARS2):c.1028C>T (p.Thr343Met)	LARS2-AS1, LARS2 (T343M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062434	NM_015340.4(LARS2):c.1029G>T (p.Thr343=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912373	NM_015340.4(LARS2):c.1029G>A (p.Thr343=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2260107	NM_015340.4(LARS2):c.1050G>T (p.Met350Ile)	LARS2, LARS2-AS1 (M350I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1468331	NM_015340.4(LARS2):c.1051C>T (p.Leu351Phe)	LARS2, LARS2-AS1 (L351F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 517084	NM_015340.4(LARS2):c.1053T>A (p.Leu351=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 226691	NM_015340.4(LARS2):c.1053T>C (p.Leu351=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1329709	NM_015340.4(LARS2):c.1058A>C (p.Gln353Pro)	LARS2, LARS2-AS1 (Q353P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1393275	NM_015340.4(LARS2):c.1075G>A (p.Val359Ile)	LARS2, LARS2-AS1 (V359I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 55873	NM_015340.4(LARS2):c.1077del (p.Ile360fs)	LARS2, LARS2-AS1 (I360fs)	Deletion (frameshift variant)	Perrault syndrome 4	GPathogenic
Select item 2446359	NM_015340.4(LARS2):c.1079T>C (p.Ile360Thr)	LARS2, LARS2-AS1 (I360T)	Single nucleotide variant (missense variant)	Perrault syndrome 4	GLikely pathogenic
Select item 2714578	NM_015340.4(LARS2):c.1083G>A (p.Leu361=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 505003	NM_015340.4(LARS2):c.1104C>G (p.Gly368=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2775905	NM_015340.4(LARS2):c.1111del (p.Asp371fs)	LARS2, LARS2-AS1 (D371fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1961803	NM_015340.4(LARS2):c.1111G>A (p.Asp371Asn)	LARS2, LARS2-AS1 (D371N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623147	NM_015340.4(LARS2):c.1115C>G (p.Ser372Ter)	LARS2, LARS2-AS1 (S372*)	Single nucleotide variant (nonsense)	Perrault syndrome 4	GLikely pathogenic
Select item 3029784	NM_015340.4(LARS2):c.1123+7A>T	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	LARS2-related condition	GLikely benign
Select item 505032	NM_015340.4(LARS2):c.1123+8G>C	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 506837	NM_015340.4(LARS2):c.1123+11A>G	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2106914	NM_015340.4(LARS2):c.1123+12T>C	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2016977	NM_015340.4(LARS2):c.1123+19G>A	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684174	NM_015340.4(LARS2):c.1123+196T>C	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669804	NM_015340.4(LARS2):c.1123+218_1123+219insTTA	LARS2, LARS2-AS1	Insertion (intron variant)	not provided	GBenign
Select item 1233219	NM_015340.4(LARS2):c.1123+221AAG[3]	LARS2, LARS2-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 669495	NM_015340.4(LARS2):c.1123+220T>G	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684176	NM_015340.4(LARS2):c.1124-324C>T	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684178	NM_015340.4(LARS2):c.1124-293A>T	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234149	NM_015340.4(LARS2):c.1124-236A>G	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196709	NM_015340.4(LARS2):c.1124-195C>G	LARS2-AS1, LARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190836	NM_015340.4(LARS2):c.1124-32G>A	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 390688	NM_015340.4(LARS2):c.1124-8C>G	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 226692	NM_015340.4(LARS2):c.1131C>T (p.Pro377=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1707732	NM_015340.4(LARS2):c.1136C>G (p.Thr379Ser)	LARS2-AS1, LARS2 (T379S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2011451	NM_015340.4(LARS2):c.1160C>A (p.Ala387Asp)	LARS2, LARS2-AS1 (A387D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 667121	NM_015340.4(LARS2):c.1178C>A (p.Ala393Asp)	LARS2, LARS2-AS1 (A393D)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2859536	NM_015340.4(LARS2):c.1181dup (p.Tyr394Ter)	LARS2, LARS2-AS1 (Y394*)	Duplication (nonsense)	not provided	GPathogenic
Select item 726572	NM_015340.4(LARS2):c.1197A>G (p.Glu399=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2034966	NM_015340.4(LARS2):c.1218G>A (p.Glu406=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077151	NM_015340.4(LARS2):c.1222C>A (p.Leu408Met)	LARS2-AS1, LARS2 (L408M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997137	NM_015340.4(LARS2):c.1224G>A (p.Leu408=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 869196	NM_015340.4(LARS2):c.1237G>A (p.Glu413Lys)	LARS2, LARS2-AS1 (E413K)	Single nucleotide variant (missense variant)	Perrault syndrome 4 +2 more	GUncertain significance
Select item 1898031	NM_015340.4(LARS2):c.1239+20C>A	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186258	NM_015340.4(LARS2):c.1239+34A>G	LARS2-AS1, LARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196863	NM_015340.4(LARS2):c.1239+51A>G	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676143	NM_015340.4(LARS2):c.1239+97G>A	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194618	NM_015340.4(LARS2):c.1239+161T>C	LARS2-AS1, LARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185821	NM_015340.4(LARS2):c.1240-288G>A	LARS2-AS1, LARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906554	NM_015340.4(LARS2):c.1240-9C>G	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2171209	NM_015340.4(LARS2):c.1240-7C>T	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	LARS2-related condition +1 more	GLikely benign
Select item 809475	NM_015340.4(LARS2):c.1247del (p.Gly416fs)	LARS2, LARS2-AS1 (G416fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2720074	NM_015340.4(LARS2):c.1249A>G (p.Met417Val)	LARS2, LARS2-AS1 (M417V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2415285	NM_015340.4(LARS2):c.1255C>T (p.Arg419Trp)	LARS2, LARS2-AS1 (R419W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903088	NM_015340.4(LARS2):c.1261G>C (p.Asp421His)	LARS2, LARS2-AS1 (D421H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759855	NM_015340.4(LARS2):c.1275C>G (p.Ala425=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1963958	NM_015340.4(LARS2):c.1287del (p.Ala430fs)	LARS2, LARS2-AS1 (A430fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 245613	NM_015340.4(LARS2):c.1289C>T (p.Ala430Val)	LARS2, LARS2-AS1 (A430V)	Single nucleotide variant (missense variant)	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	GPathogenic
Select item 2584810	NM_015340.4(LARS2):c.1291C>T (p.Arg431Trp)	LARS2, LARS2-AS1 (R431W)	Single nucleotide variant (missense variant)	Perrault syndrome 4	GUncertain significance
Select item 1191298	NM_015340.4(LARS2):c.1296G>A (p.Gly432=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 668212	NM_015340.4(LARS2):c.1302A>G (p.Arg434=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 691520	NM_015340.4(LARS2):c.1313A>G (p.Asp438Gly)	LARS2, LARS2-AS1 (D438G)	Single nucleotide variant (missense variant)	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	GLikely pathogenic
Select item 1538630	NM_015340.4(LARS2):c.1314C>T (p.Asp438=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2433411	NM_015340.4(LARS2):c.1318A>G (p.Thr440Ala)	LARS2, LARS2-AS1 (T440A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926691	NM_015340.4(LARS2):c.1335A>G (p.Lys445=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2421614	NM_015340.4(LARS2):c.1342C>T (p.Leu448=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2326173	NM_015340.4(LARS2):c.1345A>G (p.Ile449Val)	LARS2, LARS2-AS1 (I449V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1404257	NM_015340.4(LARS2):c.1358G>A (p.Arg453Gln)	LARS2, LARS2-AS1 (R453Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988923	NM_015340.4(LARS2):c.1360T>C (p.Tyr454His)	LARS2, LARS2-AS1 (Y454H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 681590	NM_015340.4(LARS2):c.1380C>T (p.Pro460=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124624	NM_015340.4(LARS2):c.1381A>G (p.Ile461Val)	LARS2, LARS2-AS1 (I461V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 385666	NM_015340.4(LARS2):c.1383T>C (p.Ile461=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 506330	NM_015340.4(LARS2):c.1392C>T (p.Cys464=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2120231	NM_015340.4(LARS2):c.1404C>A (p.Gly468=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055064	NM_015340.4(LARS2):c.1408A>G (p.Thr470Ala)	LARS2-AS1, LARS2 (T470A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882096	NM_015340.4(LARS2):c.1440C>A (p.Thr480=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1460497	NM_015340.4(LARS2):c.1450A>G (p.Ile484Val)	LARS2, LARS2-AS1 (I484V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 513291	NM_015340.4(LARS2):c.1452C>T (p.Ile484=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2187633	NM_015340.4(LARS2):c.1453G>A (p.Ala485Thr)	LARS2, LARS2-AS1 (A485T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712533	NM_015340.4(LARS2):c.1453_1455delinsACA (p.Ala485Thr)	LARS2-AS1, LARS2 (A485T)	Indel (missense variant)	not provided	GUncertain significance
Select item 226693	NM_015340.4(LARS2):c.1455G>A (p.Ala485=)	LARS2-AS1, LARS2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 2502693	NM_015340.4(LARS2):c.1475G>T (p.Gly492Val)	LARS2, LARS2-AS1 (G492V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185590	NM_015340.4(LARS2):c.1481dup (p.Leu495fs)	LARS2, LARS2-AS1 (L495fs)	Duplication (frameshift variant)	Nonsyndromic genetic hearing loss +1 more	GPathogenic
Select item 1580924	NM_015340.4(LARS2):c.1476C>T (p.Gly492=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076639	NM_015340.4(LARS2):c.1478C>A (p.Pro493His)	LARS2, LARS2-AS1 (P493H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2143675	NM_015340.4(LARS2):c.1481C>T (p.Pro494Leu)	LARS2-AS1, LARS2 (P494L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858395	NM_015340.4(LARS2):c.1501T>G (p.Trp501Gly)	LARS2, LARS2-AS1 (W501G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308557	NM_015340.4(LARS2):c.1514C>T (p.Ser505Phe)	LARS2, LARS2-AS1 (S505F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2421571	NM_015340.4(LARS2):c.1518C>T (p.Cys506=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 517248	NM_015340.4(LARS2):c.1520C>G (p.Pro507Arg)	LARS2, LARS2-AS1 (P507R)	Single nucleotide variant (missense variant)	Rare genetic deafness	GLikely pathogenic
Select item 1914164	NM_015340.4(LARS2):c.1523+6G>T	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3053015	NM_015340.4(LARS2):c.1523+10_1523+20del	LARS2, LARS2-AS1	Deletion (intron variant)	LARS2-related condition	GLikely benign
Select item 3049945	NM_015340.4(LARS2):c.1523+9_1523+10insAGTT	LARS2, LARS2-AS1	Insertion (intron variant)	LARS2-related condition	GLikely benign
Select item 1215598	NM_015340.4(LARS2):c.1523+93G>C	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995721	NM_015340.4(LARS2):c.1524-8T>C	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1358997	NM_015340.4(LARS2):c.1524-1G>T	LARS2, LARS2-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic

<< First< Prev

Page of 2