ClinVar for MedGen (Select 348571) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2162061	NM_175053.4(KRT74):c.1228G>A (p.Ala410Thr)	KRT74 (A410T)	Single nucleotide variant (missense variant)	Autosomal dominant wooly hair +1 more	GUncertain significance
Select item 66968	NM_175053.4(KRT74):c.1391-1G>A	KRT74	Single nucleotide variant (splice acceptor variant)	Autosomal dominant wooly hair	GPathogenic
Select item 2460	NM_175053.4(KRT74):c.444C>G (p.Asn148Lys)	KRT74 (N148K)	Single nucleotide variant (missense variant)	Autosomal dominant wooly hair	GPathogenic

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