"Ambry Genetics"[submitter] AND "INSYN2A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2526372	NM_001039762.3(INSYN2A):c.1322T>C (p.Ile441Thr)	DOCK1, INSYN2A (I441T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508988	NM_001039762.3(INSYN2A):c.877C>A (p.His293Asn)	DOCK1, INSYN2A (H293N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460534	NM_001039762.3(INSYN2A):c.487G>A (p.Gly163Ser)	INSYN2A, DOCK1 (G163S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468757	NM_001039762.3(INSYN2A):c.208G>C (p.Gly70Arg)	DOCK1, INSYN2A (G70R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515843	NM_001039762.3(INSYN2A):c.122G>A (p.Arg41Gln)	DOCK1, INSYN2A (R41Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2568659	NM_001039762.3(INSYN2A):c.37A>G (p.Thr13Ala)	DOCK1, INSYN2A (T13A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2478433	NM_001039762.3(INSYN2A):c.17C>G (p.Thr6Ser)	DOCK1, INSYN2A (T6S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign

ClinVar