"GeneDx"[submitter] AND "LOC101930071"[gene] - ClinVar - NCBI

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Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 393280	NM_005357.4(LIPE):c.3040G>A (p.Val1014Met)	LIPE, LIPE-AS1 +1 more (V1014M)	Single nucleotide variant (missense variant)	LIPE-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1224184	NM_005357.4(LIPE):c.2968-44C>G	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234041	NM_005357.4(LIPE):c.2968-46G>C	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289169	NM_005357.4(LIPE):c.2543-262CA[23]	LIPE, LIPE-AS1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1279720	NM_005357.4(LIPE):c.2543-262CA[22]	LIPE, LIPE-AS1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1247561	NM_005357.4(LIPE):c.2543-262CA[25]	LIPE, LIPE-AS1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1243242	NM_005357.4(LIPE):c.2543-262CA[21]	LIPE, LIPE-AS1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1231621	NM_005357.4(LIPE):c.2543-262CA[24]	LIPE, LIPE-AS1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1250605	NM_005357.4(LIPE):c.2543-263_2543-262dup	LIPE, LIPE-AS1 +1 more	Duplication (intron variant)	not provided	GBenign
Select item 1226937	NM_005357.4(LIPE):c.2543-261A>T	LOC101930071, LIPE +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272606	NM_005357.4(LIPE):c.2365+143TG[22]	LIPE, LIPE-AS1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1274732	NM_005357.4(LIPE):c.2365+143TG[16]	LIPE, LIPE-AS1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1264420	NM_005357.4(LIPE):c.2365+143TG[19]	LIPE, LIPE-AS1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1257604	NM_005357.4(LIPE):c.2365+143TG[18]	LIPE, LIPE-AS1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1236252	NM_005357.4(LIPE):c.2365+143TG[20]	LIPE, LIPE-AS1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1278908	NM_005357.4(LIPE):c.2365+181T>A	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252413	NM_005357.4(LIPE):c.2137+238C>T	LIPE, LIPE-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300414	NM_005357.4(LIPE):c.1559C>T (p.Pro520Leu)	LIPE, LIPE-AS1 +1 more (P520L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance