ClinVar for MedGen (Select 863053) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028520	NM_033448.3(KRT71):c.1349C>T (p.Pro450Leu)	KRT71 (P450L)	Single nucleotide variant (missense variant)	Hypotrichosis 13	GUncertain significance
Select item 804395	NM_005544.3(IRS1):c.158G>A (p.Trp53Ter)	IRS1 (W53*)	Single nucleotide variant (nonsense)	Wooly hair, autosomal recessive 3 +2 more	GLikely pathogenic
Select item 140460	NM_033448.3(KRT71):c.422T>G (p.Phe141Cys)	KRT71 (F141C)	Single nucleotide variant (missense variant)	Hypotrichosis 13	GPathogenic

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