ClinVar (all) for Orgtrack (Select 505474) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 242976	NM_013275.6(ANKRD11):c.6015dup (p.Gly2006fs)	ANKRD11 (G2006fs)	Duplication (frameshift variant)	KBG syndrome	GPathogenic
Select item 236207	NM_001330260.2(SCN8A):c.800T>C (p.Leu267Ser)	SCN8A (L267S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
Select item 204363	Single allele	LOC129992127	Deletion	Autism	GUncertain significance
Select item 204362	Single allele	ALG1L2	Deletion	Autism	GUncertain significance
Select item 204361	Single allele		Deletion	Autism	GUncertain significance
Select item 203994	NM_000228.3(LAMB3):c.133T>G (p.Ser45Ala)	LAMB3 (S45A)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 203993	NM_014520.4(MYBBP1A):c.139C>T (p.Gln47Ter)	MYBBP1A (Q47*)	Single nucleotide variant (nonsense)	Autism	GUncertain significance

ClinVar