ClinVar for MedGen (Select 1840909) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068126	NM_006045.3(ATP9A):c.2111G>A (p.Arg704Gln)	ATP9A (R704Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with poor growth and behavioral abnormalities	GUncertain significance
Select item 3064833	NM_006045.3(ATP9A):c.876+6T>G	ATP9A	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with poor growth and behavioral abnormalities	GUncertain significance
Select item 2690551	NM_006045.3(ATP9A):c.1164dup (p.Leu389fs)	ATP9A (L389fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with poor growth and behavioral abnormalities	GLikely pathogenic
Select item 2443776	NM_006045.3(ATP9A):c.983G>A (p.Trp328Ter)	ATP9A (W328*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with poor growth and behavioral abnormalities	GPathogenic
Select item 2443775	NM_006045.3(ATP9A):c.658C>T (p.Arg220Ter)	ATP9A (R220*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with poor growth and behavioral abnormalities	GPathogenic
Select item 2443774	NM_006045.3(ATP9A):c.433C>T (p.Arg145Ter)	ATP9A (R145*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with poor growth and behavioral abnormalities	GPathogenic
Select item 2443772	NM_006045.3(ATP9A):c.642+1G>A	ATP9A	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with poor growth and behavioral abnormalities	GPathogenic
Select item 1706531	NM_006045.3(ATP9A):c.868C>T (p.Arg290Ter)	ATP9A (R290*)	Single nucleotide variant (nonsense)	not specified	GPathogenic
Select item 1284891	NM_006045.3(ATP9A):c.799+1G>T	ATP9A	Single nucleotide variant (splice donor variant)	See cases	GPathogenic