ClinVar (all) for Orgtrack (Select 508746) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705978	NM_001170535.3(ATAD3A):c.1651G>T (p.Glu551Ter)	ATAD3A (E472* +2 more)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	GUncertain significance
Select item 1705846	NM_001170535.3(ATAD3A):c.868C>T (p.Arg290Cys)	ATAD3A (R211C +2 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	GUncertain significance