"PreventionGenetics, part of Exact Sciences"[submitter] AND "THOC6"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2630517	NM_024339.5(THOC6):c.155+1G>T	THOC6	Single nucleotide variant (splice donor variant)	THOC6-related disorder	GLikely pathogenic
Select item 3035328	NM_024339.5(THOC6):c.237C>T (p.Val79=)	THOC6	Single nucleotide variant (synonymous variant)	THOC6-related disorder	GLikely benign
Select item 1684068	NM_024339.5(THOC6):c.343del (p.Arg115fs)	THOC6 (R115fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 1239904	NM_024339.5(THOC6):c.390C>T (p.Asn130=)	THOC6	Single nucleotide variant (synonymous variant)	THOC6-related disorder +1 more	GBenign
Select item 2629835	NM_024339.5(THOC6):c.510C>A (p.Tyr170Ter)	THOC6 (Y146* +1 more)	Single nucleotide variant (nonsense)	THOC6-related disorder	GLikely pathogenic
Select item 561208	NM_024339.5(THOC6):c.569G>A (p.Gly190Glu)	THOC6 (G190E +1 more)	Single nucleotide variant (missense variant)	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3035559	NM_024339.5(THOC6):c.865C>T (p.Leu289=)	THOC6	Single nucleotide variant (synonymous variant +1 more)	THOC6-related disorder	GLikely benign
Select item 3050346	NM_024339.5(THOC6):c.930C>G (p.Ala310=)	THOC6	Single nucleotide variant (synonymous variant +1 more)	THOC6-related disorder	GLikely benign

ClinVar