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

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58719	GRCh38/hg38 10p12.1-11.23(chr10:27046685-30228891)x1	ACBD5, ANKRD26 +90 more	Copy number loss	See cases	GPathogenic
Select item 1242800	NM_021738.3(SVIL):c.*15GAG[1]	SVIL, SVIL-AS1	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1225817	NM_021738.3(SVIL):c.6600C>T (p.Pro2200=)	SVIL, SVIL-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1230829	NM_021738.3(SVIL):c.6558+50del	SVIL, SVIL-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1228692	NM_021738.3(SVIL):c.6558+48G>A	SVIL, SVIL-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1268155	NM_021738.3(SVIL):c.6504G>A (p.Pro2168=)	SVIL, SVIL-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1248642	NM_021738.3(SVIL):c.6403-100A>T	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270993	NM_021738.3(SVIL):c.6402+114C>G	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226191	NM_021738.3(SVIL):c.6278-138G>A	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232961	NM_021738.3(SVIL):c.6278-165_6278-162del	SVIL, SVIL-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1236508	NM_021738.3(SVIL):c.6277+210A>C	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243710	NM_021738.3(SVIL):c.6134-116T>C	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264118	NM_021738.3(SVIL):c.6133+15G>A	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	Myofibrillar myopathy 10 +1 more	GBenign/Likely benign
Select item 1271569	NM_021738.3(SVIL):c.6122C>T (p.Ala2041Val)	SVIL, SVIL-AS1 (A1615V +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1248307	NM_021738.3(SVIL):c.6114G>A (p.Leu2038=)	SVIL, SVIL-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1259087	NM_021738.3(SVIL):c.6048A>G (p.Thr2016=)	SVIL, SVIL-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1273173	NM_021738.3(SVIL):c.6013A>G (p.Ile2005Val)	SVIL, SVIL-AS1 (I1579V +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1220994	NM_021738.3(SVIL):c.5982T>C (p.Pro1994=)	SVIL, SVIL-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1243134	NM_021738.3(SVIL):c.5977+212G>C	SVIL, SVIL-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1280125	NM_021738.3(SVIL):c.5844-232G>A	SVIL, SVIL-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1273237	NM_021738.3(SVIL):c.5843+30del	SVIL, SVIL-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1268920	NM_021738.3(SVIL):c.5823T>C (p.Ala1941=)	SVIL, SVIL-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1251701	NM_021738.3(SVIL):c.5636-15C>T	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278944	NM_021738.3(SVIL):c.5636-22G>A	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238148	NM_021738.3(SVIL):c.5636-180C>T	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222618	NM_021738.3(SVIL):c.5530-37G>A	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249423	NM_021738.3(SVIL):c.5530-190del	SVIL, SVIL-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1224037	NM_021738.3(SVIL):c.5529+161G>A	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270310	NM_021738.3(SVIL):c.5529+111C>T	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279606	NM_021738.3(SVIL):c.5378-79G>C	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253939	NM_021738.3(SVIL):c.5378-79G>A	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261941	NM_021738.3(SVIL):c.5378-162C>T	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288858	NM_021738.3(SVIL):c.5377+178G>A	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273843	NM_021738.3(SVIL):c.5254G>A (p.Val1752Ile)	SVIL, SVIL-AS1 (V1326I +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1221374	NM_021738.3(SVIL):c.5196C>T (p.Val1732=)	SVIL, SVIL-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1181425	NM_021738.3(SVIL):c.5062T>C (p.Ser1688Pro)	SVIL, SVIL-AS1 (S1262P +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1282700	NM_021738.3(SVIL):c.4956-116C>T	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252653	NM_021738.3(SVIL):c.4956-129C>T	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288442	NM_021738.3(SVIL):c.4955+114C>T	SVIL, SVIL-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1228879	NM_021738.3(SVIL):c.4780-198G>A	SVIL, SVIL-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1289158	NM_021738.3(SVIL):c.4779+109G>A	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243156	NM_021738.3(SVIL):c.4485+187A>G	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249699	NM_021738.3(SVIL):c.4349-61A>G	SVIL, SVIL-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1287029	NM_021738.3(SVIL):c.4349-99_4349-98del	SVIL, SVIL-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1277078	NM_021738.3(SVIL):c.4349-181G>A	SVIL, SVIL-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign

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Items: 45