C5677000[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1679165	NM_001366521.1(ATP2B1):c.2632C>T (p.Gln878Ter)	ATP2B1 (Q691* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GPathogenic
Select item 1712324	NM_001366521.1(ATP2B1):c.2426A>G (p.Asp809Gly)	ATP2B1 (D622G +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 1679161	NM_001366521.1(ATP2B1):c.1274C>A (p.Thr425Lys)	ATP2B1 (T238K +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1697311	NM_001366521.1(ATP2B1):c.1235A>G (p.Tyr412Cys)	ATP2B1 (Y225C +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 1679160	NM_001366521.1(ATP2B1):c.791C>T (p.Thr264Ile)	ATP2B1 (T198I +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1679159	NM_001366521.1(ATP2B1):c.716A>G (p.Asp239Gly)	ATP2B1 (D173G +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1679166	NM_001366521.1(ATP2B1):c.458G>A (p.Trp153Ter)	ATP2B1 (W153* +1 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder	GLikely pathogenic

ClinVar