ClinVar for MedGen (Select 1624694) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2502311	NM_001144869.3(LIPT2):c.1A>T (p.Met1Leu)	LIPT2, LIPT2-AS1 (M1L)	Single nucleotide variant (non-coding transcript variant +2 more)	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	GLikely pathogenic
Select item 2433463	NM_001144869.3(LIPT2):c.288G>C (p.Gln96His)	LIPT2, LIPT2-AS1 (Q96H)	Single nucleotide variant (non-coding transcript variant +2 more)	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	GUncertain significance
Select item 1601557	NM_001144869.3(LIPT2):c.273C>T (p.Phe91=)	LIPT2, LIPT2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1339189	NM_001144869.3(LIPT2):c.326G>A (p.Gly109Asp)	LIPT2 (G109D)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1169390	NM_001144869.3(LIPT2):c.568A>T (p.Thr190Ser)	LIPT2 (T190S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1165286	NM_001144869.3(LIPT2):c.22T>C (p.Leu8=)	LIPT2, LIPT2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities +1 more	GBenign
Select item 1033330	NM_001144869.3(LIPT2):c.162G>A (p.Gly54=)	LIPT2, LIPT2-AS1 +1 more	Single nucleotide variant (synonymous variant +1 more)	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	GUncertain significance
Select item 1031160	NM_001144869.3(LIPT2):c.284G>A (p.Gly95Asp)	LIPT2, LIPT2-AS1 (G95D)	Single nucleotide variant (non-coding transcript variant +2 more)	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	GUncertain significance
Select item 1031159	NM_001144869.3(LIPT2):c.167T>C (p.Val56Ala)	LIPT2, LIPT2-AS1 +1 more (V56A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GUncertain significance
Select item 771448	NM_001144869.3(LIPT2):c.690C>T (p.Pro230=)	LIPT2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 438641	NM_001144869.3(LIPT2):c.314T>G (p.Leu105Arg)	LIPT2, LIPT2-AS1 (L105R)	Single nucleotide variant (missense variant +1 more)	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities +1 more	GPathogenic/Likely pathogenic
Select item 438640	NM_001144869.3(LIPT2):c.89T>C (p.Leu30Pro)	LIPT2, LIPT2-AS1 (L30P)	Single nucleotide variant (missense variant)	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	GLikely pathogenic
Select item 438639	NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg)	LIPT2 (L126R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 378087	NM_001144869.3(LIPT2):c.466+14A>C	LIPT2	Single nucleotide variant (synonymous variant +1 more)	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities +1 more	GBenign
Select item 126426	NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala)	KCNE3, LIPT2 (T4A)	Single nucleotide variant (missense variant)	Brugada syndrome 6 +3 more	GConflicting classifications of pathogenicity
Select item 5541	NM_005472.5(KCNE3):c.248G>A (p.Arg83His)	KCNE3, LIPT2 (R83H)	Single nucleotide variant (missense variant)	Brugada syndrome 6 +8 more	GConflicting classifications of pathogenicity