C0856975[trait identifier] AND "Institute for Human Genetics, Universi - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 933142	NM_021614.4(KCNN2):c.1116C>A (p.Tyr372Ter)	KCNN2 (Y372* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, severe +3 more	GPathogenic
Select item 933143	NM_021614.4(KCNN2):c.1498_1499delinsTC (p.Ile500Ser)	KCNN2 (I566S +1 more)	Indel (missense variant)	Motor tics +3 more	GLikely pathogenic
Select item 933145	NM_021614.4(KCNN2):c.1718A>G (p.Tyr573Cys)	KCNN2, LOC101927078 (Y13C +2 more)	Single nucleotide variant (missense variant +1 more)	Autistic behavior +4 more	GLikely pathogenic
Select item 933146	NM_021614.4(KCNN2):c.1720G>A (p.Gly574Ser)	KCNN2, LOC101927078 (G640S +2 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay +4 more	GPathogenic/Likely pathogenic
Select item 933147	NM_021614.4(KCNN2):c.1798C>G (p.Leu600Val)	KCNN2, LOC101927078 (L40V +2 more)	Single nucleotide variant (missense variant +1 more)	Autistic behavior +2 more	GPathogenic
Select item 933148	NM_021614.4(KCNN2):c.1890+2T>C	KCNN2, LOC101927078	Single nucleotide variant (splice donor variant)	Autistic behavior +4 more	GLikely pathogenic

ClinVar