"Ambry Genetics"[submitter] AND "SYAP1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2466090	NM_032796.4(SYAP1):c.68G>A (p.Gly23Glu)	SYAP1 (G23E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467101	NM_032796.4(SYAP1):c.89C>G (p.Pro30Arg)	SYAP1 (P30R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2545500	NM_032796.4(SYAP1):c.308A>T (p.Asp103Val)	SYAP1 (D103V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381135	NM_032796.4(SYAP1):c.562C>G (p.Leu188Val)	SYAP1 (L188V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556651	NM_032796.4(SYAP1):c.701G>A (p.Arg234Lys)	SYAP1 (R234K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1300011	NM_032796.4(SYAP1):c.743C>T (p.Thr248Met)	SYAP1 (T248M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569685	NM_032796.4(SYAP1):c.922G>A (p.Val308Ile)	SYAP1 (V308I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar