ClinVar (all) for Orgtrack (Select 508885) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671822	NM_014927.5(CNKSR2):c.1657+1G>A	CNKSR2	Single nucleotide variant (splice donor variant)	Intellectual disability, X-linked, syndromic, Houge type	GLikely pathogenic
Select item 2583091	NM_025237.3(SOST):c.327C>A (p.Cys109Ter)	SOST (C109*)	Single nucleotide variant (nonsense)	Sclerosteosis 1	GLikely pathogenic
Select item 1809807	NM_004114.5(FGF13):c.5C>G (p.Ala2Gly)	FGF13 (A2G)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 90	GLikely pathogenic

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