"Baylor Genetics"[submitter] AND "LOC130006411"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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