"GeneDx"[submitter] AND "VIPAS39"[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 1202490	NM_001193315.2(VIPAS39):c.1461+139A>G	VIPAS39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185857	NM_001193315.2(VIPAS39):c.1461+115A>G	VIPAS39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 501089	NM_001193315.2(VIPAS39):c.1460C>T (p.Ser487Leu)	VIPAS39 (S487L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 261488	NM_001193315.2(VIPAS39):c.1357-35G>C	VIPAS39	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1221479	NM_001193315.2(VIPAS39):c.1356+230A>G	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239634	NM_001193315.2(VIPAS39):c.1356+212C>T	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195251	NM_001193315.2(VIPAS39):c.1356+99C>T	VIPAS39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275604	NM_001193315.2(VIPAS39):c.1267-200C>A	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260944	NM_001193315.2(VIPAS39):c.1266+220_1266+221insG	VIPAS39	Insertion (intron variant)	not provided	GBenign
Select item 1252300	NM_001193315.2(VIPAS39):c.1266+218del	VIPAS39	Deletion (intron variant)	not provided	GBenign
Select item 1233662	NM_001193315.2(VIPAS39):c.1266+216_1266+217insGAGAGCTGTG	VIPAS39	Insertion (intron variant)	not provided	GBenign
Select item 194886	NM_001193315.2(VIPAS39):c.1242G>A (p.Leu414=)	VIPAS39	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1236977	NM_001193315.2(VIPAS39):c.1180-177T>C	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261486	NM_001193315.2(VIPAS39):c.1179+20G>A	VIPAS39	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 261485	NM_001193315.2(VIPAS39):c.1179+13C>G	VIPAS39	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1248220	NM_001193315.2(VIPAS39):c.1089+115A>C	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 285416	NM_001193315.2(VIPAS39):c.1081A>G (p.Thr361Ala)	VIPAS39 (T361A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1255141	NM_001193315.2(VIPAS39):c.1047+146G>T	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3367797	NM_001193315.2(VIPAS39):c.1032C>G (p.His344Gln)	VIPAS39 (H264Q +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1294477	NM_001193315.2(VIPAS39):c.913-36dup	VIPAS39	Duplication (intron variant)	not provided	GBenign
Select item 1275254	NM_001193315.2(VIPAS39):c.913-36_913-35dup	VIPAS39	Duplication (intron variant)	not provided	GBenign
Select item 1232251	NM_001193315.2(VIPAS39):c.913-36_913-34dup	VIPAS39	Duplication (intron variant)	not provided	GBenign
Select item 1223263	NM_001193315.2(VIPAS39):c.913-36_913-33dup	VIPAS39	Duplication (intron variant)	not provided	GBenign
Select item 1274887	NM_001193315.2(VIPAS39):c.913-172G>T	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252324	NM_001193315.2(VIPAS39):c.912+149C>T	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 194427	NM_001193315.2(VIPAS39):c.861C>T (p.Ser287=)	VIPAS39	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1250962	NM_001193315.2(VIPAS39):c.837-156T>C	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289708	NM_001193315.2(VIPAS39):c.836+201A>G	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261492	NM_001193315.2(VIPAS39):c.836+15A>G	VIPAS39	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2572863	NM_001193315.2(VIPAS39):c.808C>T (p.Arg270Ter)	VIPAS39 (R190* +4 more)	Single nucleotide variant (nonsense +2 more)	not provided +2 more	GPathogenic
Select item 1328689	NM_001193315.2(VIPAS39):c.763-130C>T	VIPAS39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227706	NM_001193315.2(VIPAS39):c.762+177dup	VIPAS39	Duplication (intron variant)	not provided	GBenign
Select item 261491	NM_001193315.2(VIPAS39):c.735-45A>G	VIPAS39	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1203229	NM_001193315.2(VIPAS39):c.735-146A>G	VIPAS39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240877	NM_001193315.2(VIPAS39):c.735-280del	VIPAS39	Deletion (intron variant)	not provided	GBenign
Select item 1180308	NM_001193315.2(VIPAS39):c.734+315T>C	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294475	NM_001193315.2(VIPAS39):c.734+149T>G	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1306656	NM_001193315.2(VIPAS39):c.647A>G (p.Glu216Gly)	VIPAS39 (E167G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1223476	NM_001193315.2(VIPAS39):c.632-136A>T	VIPAS39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223996	NM_001193315.2(VIPAS39):c.631+125_631+139del	VIPAS39	Deletion (intron variant)	not provided	GBenign
Select item 1262647	NM_001193315.2(VIPAS39):c.598-55A>G	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203969	NM_001193315.2(VIPAS39):c.598-274G>A	VIPAS39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274005	NM_001193315.2(VIPAS39):c.598-278G>A	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294483	NM_001193315.2(VIPAS39):c.597+193_597+195dup	VIPAS39	Duplication (intron variant)	not provided	GBenign
Select item 1232604	NM_001193315.2(VIPAS39):c.597+193dup	VIPAS39	Duplication (intron variant)	not provided	GBenign
Select item 1217070	NM_001193315.2(VIPAS39):c.597+193_597+194dup	VIPAS39	Duplication (intron variant)	not provided	GLikely benign
Select item 1200979	NM_001193315.2(VIPAS39):c.597+193_597+196dup	VIPAS39	Duplication (intron variant)	not provided	GLikely benign
Select item 1706924	NM_001193315.2(VIPAS39):c.505-27G>A	VIPAS39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216039	NM_001193315.2(VIPAS39):c.505-255C>T	VIPAS39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244846	NM_001193315.2(VIPAS39):c.504+163A>G	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226439	NM_001193315.2(VIPAS39):c.504+116A>T	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289975	NM_001193315.2(VIPAS39):c.504+85T>C	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288758	NM_001193315.2(VIPAS39):c.448-56T>C	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249335	NM_001193315.2(VIPAS39):c.448-105T>G	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209154	NM_001193315.2(VIPAS39):c.383-35G>A	VIPAS39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287990	NM_001193315.2(VIPAS39):c.383-74C>G	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257212	NM_001193315.2(VIPAS39):c.344-90T>A	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263066	NM_001193315.2(VIPAS39):c.344-110A>G	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208412	NM_001193315.2(VIPAS39):c.344-125C>T	VIPAS39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251692	NM_001193315.2(VIPAS39):c.343+118T>C	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263074	NM_001193315.2(VIPAS39):c.343+98G>A	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261489	NM_001193315.2(VIPAS39):c.234C>T (p.Ser78=)	VIPAS39	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1294484	NM_001193315.2(VIPAS39):c.197-192T>G	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247161	NM_001193315.2(VIPAS39):c.196+224A>G	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224753	NM_001193315.2(VIPAS39):c.196+220T>G	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290332	NM_001193315.2(VIPAS39):c.196+55A>G	VIPAS39	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261494	NM_001193315.2(VIPAS39):c.94-46G>T	VIPAS39	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1216275	NM_001193315.2(VIPAS39):c.93+246del	VIPAS39	Deletion (intron variant)	not provided	GLikely benign

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Items: 70