ClinVar for MedGen (Select 767041) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062139	NM_017410.3(HOXC13):c.720G>C (p.Trp240Cys)	HOXC13, HOXC13-AS (W240C)	Single nucleotide variant (non-coding transcript variant +1 more)	Ectodermal dysplasia 9, hair/nail type	GUncertain significance
Select item 2689222	NM_017410.3(HOXC13):c.932G>C (p.Arg311Pro)	HOXC13 (R311P)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 9, hair/nail type	GUncertain significance
Select item 2432525	NM_017410.3(HOXC13):c.325C>T (p.Pro109Ser)	HOXC13, HOXC13-AS (P109S)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 9, hair/nail type	GUncertain significance
Select item 1285351	NM_017410.3(HOXC13):c.*12C>A	HOXC13	Single nucleotide variant (3 prime UTR variant)	Ectodermal dysplasia 9, hair/nail type	GBenign
Select item 50641	NM_017410.3(HOXC13):c.355del (p.Leu119fs)	HOXC13, HOXC13-AS (L119fs)	Deletion (frameshift variant)	Ectodermal dysplasia 9, hair/nail type	GPathogenic
Select item 39782	NM_017410.2(HOXC13):c.-24497_736+2389del	HOXC13, HOXC13-AS	Deletion	Ectodermal dysplasia 9, hair/nail type	GPathogenic
Select item 39781	NM_017410.3(HOXC13):c.390C>A (p.Tyr130Ter)	HOXC13, HOXC13-AS (Y130*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia 9, hair/nail type	GPathogenic

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