Related gene-specific medical variations for Gene (Select 8406) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690159	NM_006307.5(SRPX):c.59_62delinsC (p.Leu20_Leu21delinsPro)	SRPX	Indel (inframe_indel)	not provided	GUncertain significance
Select item 599603	NM_006307.5(SRPX):c.731G>C (p.Arg244Thr)	SRPX (R244T +2 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599602	NM_006307.5(SRPX):c.508C>T (p.Arg170Trp)	SRPX (R170W +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature	GUncertain significance

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