ClinVar for MedGen (Select 460174) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 225403	NM_139248.3(LIPH):c.736T>A (p.Cys246Ser)	LIPH (C246S)	Single nucleotide variant (missense variant)	Hypotrichosis 7 +1 more	GPathogenic/Likely pathogenic
Select item 30669	NM_139248.3(LIPH):c.742C>A (p.His248Asn)	LIPH (H248N)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3306	NM_139248.3(LIPH):c.280_369dup (p.Lys123_Thr124insGlyLeuLeuSerValGluAspMetAsnValValValValAspTrpAsnArgGlyAlaThrThrLeuIleTyrThrHisAlaSerSerLys)	LIPH	Duplication (inframe_insertion)	not provided	GPathogenic
Select item 3305	NM_139248.3(LIPH):c.322T>C (p.Trp108Arg)	LIPH (W108R)	Single nucleotide variant (missense variant)	Woolly hair, autosomal recessive 2, with or without hypotrichosis	GPathogenic
Select item 3304	NM_139248.3(LIPH):c.886+405_1094+962del	LIPH	Deletion (splice acceptor variant +1 more)	Hypotrichosis 7 +1 more	GPathogenic
Select item 3303	NM_139248.3(LIPH):c.659_660del (p.Ile220fs)	LIPH (I220fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic

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