"Ambry Genetics"[submitter] AND "LIPT2"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5541	NM_005472.5(KCNE3):c.248G>A (p.Arg83His)	KCNE3, LIPT2 (R83H)	Single nucleotide variant (missense variant)	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities +8 more	GConflicting classifications of pathogenicity
Select item 126426	NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala)	KCNE3, LIPT2 (T4A)	Single nucleotide variant (missense variant)	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities +3 more	GConflicting classifications of pathogenicity
Select item 2494451	NM_001144869.3(LIPT2):c.692A>C (p.Asn231Thr)	LIPT2 (N231T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266890	NM_001144869.3(LIPT2):c.668C>T (p.Thr223Ile)	LIPT2 (T223I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1503567	NM_001144869.3(LIPT2):c.619G>A (p.Glu207Lys)	LIPT2 (E207K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2541091	NM_001144869.3(LIPT2):c.491C>T (p.Thr164Ile)	LIPT2 (H177Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1644695	NM_001144869.3(LIPT2):c.415C>T (p.Pro139Ser)	LIPT2 (P139S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1374550	NM_001144869.3(LIPT2):c.401A>C (p.Asp134Ala)	LIPT2 (D134A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2059642	NM_001144869.3(LIPT2):c.397C>G (p.Gln133Glu)	LIPT2 (Q133E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2359842	NM_001144869.3(LIPT2):c.374G>T (p.Arg125Leu)	LIPT2 (R125L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1463170	NM_001144869.3(LIPT2):c.362C>T (p.Ala121Val)	LIPT2 (A121V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2329484	NM_001144869.3(LIPT2):c.346G>T (p.Val116Leu)	LIPT2 (V116L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491049	NM_001144869.3(LIPT2):c.326G>C (p.Gly109Ala)	LIPT2 (G109A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2544827	NM_001144869.3(LIPT2):c.310G>C (p.Asp104His)	LIPT2, LIPT2-AS1 (D104H)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2608346	NM_001144869.3(LIPT2):c.302C>T (p.Pro101Leu)	LIPT2, LIPT2-AS1 (P101L)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2314333	NM_001144869.3(LIPT2):c.301C>T (p.Pro101Ser)	LIPT2-AS1, LIPT2 (P101S)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2236036	NM_001144869.3(LIPT2):c.277G>A (p.Gly93Ser)	LIPT2-AS1, LIPT2 (G93S)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2592086	NM_001144869.3(LIPT2):c.149G>C (p.Cys50Ser)	LIPT2, LIPT2-AS1 +1 more (C50S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389892	NM_001144869.3(LIPT2):c.92A>G (p.Gln31Arg)	LIPT2-AS1, LIPT2 (Q31R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1432530	NM_001144869.3(LIPT2):c.88C>G (p.Leu30Val)	LIPT2, LIPT2-AS1 (L30V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2268695	NM_001144869.3(LIPT2):c.11C>T (p.Pro4Leu)	LIPT2-AS1, LIPT2 (P4L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2150666	NM_001144869.3(LIPT2):c.5G>A (p.Arg2Gln)	LIPT2, LIPT2-AS1 (R2Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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Items: 22