C0036572[trait identifier] AND "Duke University Health System Sequenci - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +7 more	GPathogenic/Likely pathogenic
Select item 279981	NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln)	KCNH1 (R357Q +1 more)	Single nucleotide variant (missense variant)	KCNH1-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 2499559	NM_003400.4(XPO1):c.1952A>T (p.Glu651Val)	XPO1 (E651V)	Single nucleotide variant (missense variant +1 more)	Seizure	GUncertain significance
Select item 2463026	NM_006283.3(TACC1):c.1564G>A (p.Glu522Lys)	TACC1 (E112K +11 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2499616	NM_006283.3(TACC1):c.2186G>A (p.Arg729Gln)	TACC1 (R262Q +19 more)	Single nucleotide variant (missense variant +1 more)	Seizure +1 more	GUncertain significance
Select item 374190	NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys)	DYNC1H1 (R2332C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +7 more	GPathogenic/Likely pathogenic

ClinVar