"GeneDx"[submitter] AND "LARS2-AS1"[gene] - ClinVar

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Items: 58

	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 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 specified +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 3375617	NM_015340.4(LARS2):c.1108C>A (p.Leu370Met)	LARS2, LARS2-AS1 (L370M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 specified +1 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 667121	NM_015340.4(LARS2):c.1178C>A (p.Ala393Asp)	LARS2, LARS2-AS1 (A393D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 726572	NM_015340.4(LARS2):c.1197A>G (p.Glu399=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely 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 2720074	NM_015340.4(LARS2):c.1249A>G (p.Met417Val)	LARS2, LARS2-AS1 (M417V)	Single nucleotide variant (missense variant)	Perrault syndrome 4 +1 more	GConflicting classifications of pathogenicity
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 3363656	NM_015340.4(LARS2):c.1351C>T (p.Arg451Trp)	LARS2, LARS2-AS1 (R451W)	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 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 513291	NM_015340.4(LARS2):c.1452C>T (p.Ile484=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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, LARS2-AS1	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 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 1215598	NM_015340.4(LARS2):c.1523+93G>C	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 226694	NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn)	LARS2, LARS2-AS1 (D518N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 992953	NM_015340.4(LARS2):c.1556C>T (p.Thr519Met)	LARS2, LARS2-AS1 (T519M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1211016	NM_015340.4(LARS2):c.1557G>A (p.Thr519=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1803549	NM_015340.4(LARS2):c.1564A>G (p.Thr522Ala)	LARS2, LARS2-AS1 (T522A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 55871	NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)	LARS2, LARS2-AS1 (T522N)	Single nucleotide variant (missense variant)	Rare genetic deafness +4 more	GPathogenic/Likely pathogenic
Select item 382426	NM_015340.4(LARS2):c.1622+7C>T	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 387637	NM_015340.4(LARS2):c.1622+8G>A	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 676444	NM_015340.4(LARS2):c.1622+43G>A	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294391	NM_015340.4(LARS2):c.1622+108C>T	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215757	NM_015340.4(LARS2):c.1623-176T>A	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262322	NM_015340.4(LARS2):c.1623-149C>T	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1698080	NM_015340.4(LARS2):c.1663G>C (p.Asp555His)	LARS2, LARS2-AS1 (D555H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 226696	NM_015340.4(LARS2):c.1692C>T (p.Ala564=)	LARS2, LARS2-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 3340671	NM_015340.4(LARS2):c.1705T>C (p.Phe569Leu)	LARS2, LARS2-AS1 (F569L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 505077	NM_015340.4(LARS2):c.1753A>G (p.Lys585Glu)	LARS2-AS1, LARS2 (K585E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 226697	NM_015340.4(LARS2):c.1760+12T>C	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1208673	NM_015340.4(LARS2):c.1760+234T>C	LARS2, LARS2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 58