"Ambry Genetics"[submitter] AND "LONP2"[gene] - ClinVar

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

Search results

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2617614	NM_031490.5(LONP2):c.34C>T (p.Arg12Cys)	ABCC11, LONP2 (R12C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3291058	NM_031490.5(LONP2):c.194A>C (p.Asp65Ala)	ABCC11, LONP2 (D65A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3119520	NM_031490.5(LONP2):c.216C>A (p.Asp72Glu)	ABCC11, LONP2 (D72E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272124	NM_031490.5(LONP2):c.412A>G (p.Lys138Glu)	LONP2 (K138E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411273	NM_031490.5(LONP2):c.463G>A (p.Val155Ile)	LONP2 (V155I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119522	NM_031490.5(LONP2):c.617G>A (p.Ser206Asn)	LONP2 (S206N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375246	NM_031490.5(LONP2):c.736C>T (p.Arg246Cys)	LONP2 (R202C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119523	NM_031490.5(LONP2):c.759T>G (p.His253Gln)	LONP2 (H253Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319318	NM_031490.5(LONP2):c.871G>A (p.Val291Ile)	LONP2 (V291I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242072	NM_031490.5(LONP2):c.893A>G (p.Lys298Arg)	LONP2 (K254R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550227	NM_031490.5(LONP2):c.898A>G (p.Met300Val)	LONP2 (M256V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328954	NM_031490.5(LONP2):c.950T>C (p.Met317Thr)	LONP2 (M273T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291057	NM_031490.5(LONP2):c.961C>T (p.Pro321Ser)	LONP2 (P321S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460703	NM_031490.5(LONP2):c.985C>T (p.Arg329Cys)	LONP2 (R285C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352668	NM_031490.5(LONP2):c.986G>A (p.Arg329His)	LONP2 (R329H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272235	NM_031490.5(LONP2):c.1360G>T (p.Asp454Tyr)	LONP2 (D410Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556377	NM_031490.5(LONP2):c.1702C>G (p.Leu568Val)	LONP2 (L524V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259368	NM_031490.5(LONP2):c.1791A>T (p.Arg597Ser)	LONP2 (R553S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291055	NM_031490.5(LONP2):c.1964G>T (p.Gly655Val)	LONP2 (G655V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291056	NM_031490.5(LONP2):c.1967T>C (p.Val656Ala)	LONP2 (V612A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378355	NM_031490.5(LONP2):c.2010G>A (p.Met670Ile)	LONP2 (M670I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119519	NM_031490.5(LONP2):c.2130G>T (p.Lys710Asn)	LONP2 (K666N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119521	NM_031490.5(LONP2):c.2182A>G (p.Ile728Val)	LONP2 (I728V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251016	NM_031490.5(LONP2):c.2261C>T (p.Ser754Leu)	LONP2 (S710L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552943	NM_031490.5(LONP2):c.2357A>G (p.Lys786Arg)	LONP2 (K786R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345804	NM_031490.5(LONP2):c.2392G>A (p.Val798Ile)	LONP2 (V798I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2546009	NM_031490.5(LONP2):c.2438G>C (p.Gly813Ala)	LONP2 (G813A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615135	NM_031490.5(LONP2):c.2512G>A (p.Gly838Ser)	LONP2 (G838S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318438	NM_003031.4(SIAH1):c.554T>G (p.Phe185Cys)	LONP2, SIAH1 (F185C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3162050	NM_003031.4(SIAH1):c.205C>G (p.Leu69Val)	LONP2, SIAH1 (L69V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314990	NM_003031.4(SIAH1):c.49C>G (p.Pro17Ala)	LONP2, SIAH1 (P17A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3162049	NM_003031.4(SIAH1):c.35G>A (p.Gly12Asp)	LONP2, SIAH1 (G12D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 32