ClinVar (all) for Orgtrack (Select 506074) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 375706	NM_001291867.2(NHS):c.4448C>G (p.Ser1483Cys)	NHS (S1462C +3 more)	Single nucleotide variant (missense variant)	Nance-Horan syndrome +1 more	GPathogenic
Select item 375705	NM_182548.4(LHFPL5):c.575T>C (p.Leu192Pro)	LHFPL5 (L192P)	Single nucleotide variant (missense variant)	Autosomal recessive non-syndromic intellectual disability +1 more	GPathogenic