ClinVar for MedGen (Select 322969) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064369	NM_139248.3(LIPH):c.899A>C (p.Asp300Ala)	LIPH (D300A)	Single nucleotide variant (missense variant)	Hypotrichosis 7	GUncertain significance
Select item 280138	NM_139248.3(LIPH):c.328C>T (p.Arg110Ter)	LIPH (R110*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 225403	NM_139248.3(LIPH):c.736T>A (p.Cys246Ser)	LIPH (C246S)	Single nucleotide variant (missense variant)	Hypotrichosis simplex +1 more	GPathogenic/Likely pathogenic
Select item 30669	NM_139248.3(LIPH):c.742C>A (p.His248Asn)	LIPH (H248N)	Single nucleotide variant (missense variant)	Hypotrichosis 7	GLikely pathogenic
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)	LIPH-related condition +1 more	GPathogenic
Select item 3302	NM_139248.3(LIPH):c.346_350del (p.Ile116fs)	LIPH (I116fs)	Deletion (frameshift variant)	Hypotrichosis 7	GPathogenic
Select item 3301	NG_012183.1:g.(2711_2742)_(3942_3973)del	LIPH	Deletion	Hypotrichosis 7	GPathogenic

ClinVar