"Ambry Genetics"[submitter] AND "LOC129995394"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2547011	NM_001308236.3(DOK3):c.-182G>C	DOK3, LOC129995394	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2404599	NM_024872.2(DOK3):c.23G>A (p.Arg8Gln)	DOK3, LOC129995394 (R8Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085174	NM_024872.2(DOK3):c.11G>A (p.Gly4Glu)	DOK3, LOC129995394 (G4E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589950	NM_024872.2(DOK3):c.8G>A (p.Arg3Gln)	DOK3, LOC129995394 (R3Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2546204	NM_024872.2(DOK3):c.8G>C (p.Arg3Pro)	DOK3, LOC129995394 (R3P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085184	NM_024872.2(DOK3):c.7C>T (p.Arg3Trp)	DOK3, LOC129995394 (R3W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar