ClinVar (all) for Orgtrack (Select 505728) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 562000	NM_006295.3(VARS1):c.1210C>T (p.Arg404Trp)	VARS1 (R404W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 561999	NM_006295.3(VARS1):c.2825G>A (p.Arg942Gln)	VARS1 (R942Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 561998	NM_006295.3(VARS1):c.219_232dup (p.Leu78fs)	VARS1 (L78fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GPathogenic
Select item 561997	NM_006295.3(VARS1):c.1325G>A (p.Arg442Gln)	VARS1 (R442Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 561996	NM_006295.3(VARS1):c.1199A>C (p.Gln400Pro)	VARS1 (Q400P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 561995	NM_006295.3(VARS1):c.2464G>A (p.Gly822Ser)	VARS1 (G822S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GPathogenic
Select item 561994	NM_006295.3(VARS1):c.1300C>G (p.Leu434Val)	VARS1 (L434V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	GPathogenic
Select item 223147	9q21.13 deletion	RORB, RORB-AS1 +2 more	Deletion	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GLikely pathogenic

ClinVar