"PreventionGenetics, part of Exact Sciences"[submitter] AND "SRPX2"[ge - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 390846	NM_014467.3(SRPX2):c.564C>T (p.His188=)	SRPX2	Single nucleotide variant (synonymous variant)	SRPX2-related condition +2 more	GLikely benign
Select item 198562	NM_014467.3(SRPX2):c.693C>A (p.His231Gln)	SRPX2 (H231Q)	Single nucleotide variant (missense variant)	SRPX2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 95602	NM_014467.3(SRPX2):c.840G>A (p.Ala280=)	SRPX2	Single nucleotide variant (synonymous variant)	SRPX2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2637288	NM_014467.3(SRPX2):c.883G>C (p.Gly295Arg)	SRPX2 (G295R)	Single nucleotide variant (missense variant)	SRPX2-related condition	GUncertain significance
Select item 1041828	NM_014467.3(SRPX2):c.961+1G>A	SRPX2	Single nucleotide variant (splice donor variant)	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked +2 more	GUncertain significance
Select item 207395	NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile)	SRPX2 (L344I)	Single nucleotide variant (missense variant)	SRPX2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 3033945	NM_014467.3(SRPX2):c.1179G>A (p.Arg393=)	SRPX2	Single nucleotide variant (synonymous variant)	SRPX2-related condition	GLikely benign
Select item 130374	NM_014467.3(SRPX2):c.1373G>A (p.Arg458Gln)	SRPX2 (R458Q)	Single nucleotide variant (missense variant)	SRPX2-related condition +3 more	GBenign/Likely benign