"PreventionGenetics, part of Exact Sciences"[submitter] AND "SRPK2"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3044526	NM_182692.3(SRPK2):c.1746G>A (p.Ala582=)	SRPK2	Single nucleotide variant (synonymous variant)	SRPK2-related disorder	GLikely benign
Select item 3039998	NM_182692.3(SRPK2):c.1743G>A (p.Thr581=)	SRPK2	Single nucleotide variant (synonymous variant)	SRPK2-related disorder	GLikely benign
Select item 3049529	NM_182692.3(SRPK2):c.1728G>A (p.Ala576=)	SRPK2	Single nucleotide variant (synonymous variant)	SRPK2-related disorder	GLikely benign
Select item 782847	NM_182692.3(SRPK2):c.342G>A (p.Gly114=)	SRPK2	Single nucleotide variant (synonymous variant)	SRPK2-related disorder +1 more	GBenign
Select item 792349	NM_182692.3(SRPK2):c.141T>A (p.Pro47=)	SRPK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 782848	NM_182692.3(SRPK2):c.75G>A (p.Pro25=)	SRPK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3040361	NM_182692.3(SRPK2):c.45G>A (p.Arg15=)	SRPK2 (G20D)	Single nucleotide variant (5 prime UTR variant +2 more)	SRPK2-related disorder	GLikely benign
Select item 3033841	NM_001350740.2(SRPK2):c.95C>T (p.Ala32Val)	LOC129999085, SRPK2 (A32V)	Single nucleotide variant (missense variant +1 more)	SRPK2-related disorder	GBenign

ClinVar