Related gene-specific medical variations for Gene (Select 3229) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284673	NM_017410.3(HOXC13):c.127G>C (p.Gly43Arg)	HOXC13, HOXC13-AS (G43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250596	NM_017410.3(HOXC13):c.291G>A (p.Pro97=)	HOXC13, HOXC13-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3106690	NM_017410.3(HOXC13):c.631G>T (p.Val211Phe)	HOXC13, HOXC13-AS (V211F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3106689	NM_017410.3(HOXC13):c.527C>A (p.Pro176His)	HOXC13, HOXC13-AS (P176H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106688	NM_017410.3(HOXC13):c.508A>G (p.Lys170Glu)	HOXC13, HOXC13-AS (K170E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106687	NM_017410.3(HOXC13):c.466C>A (p.Pro156Thr)	HOXC13, HOXC13-AS (P156T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106686	NM_017410.3(HOXC13):c.457T>C (p.Tyr153His)	HOXC13, HOXC13-AS (Y153H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106685	NM_017410.3(HOXC13):c.370C>T (p.Pro124Ser)	HOXC13, HOXC13-AS (P124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106684	NM_017410.3(HOXC13):c.367T>C (p.Tyr123His)	HOXC13, HOXC13-AS (Y123H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106683	NM_017410.3(HOXC13):c.236G>C (p.Gly79Ala)	HOXC13, HOXC13-AS (G79A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106681	NM_017410.3(HOXC13):c.113G>A (p.Gly38Asp)	HOXC13, HOXC13-AS (G38D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106680	NM_017410.3(HOXC13):c.104G>A (p.Gly35Glu)	HOXC13, HOXC13-AS (G35E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3051226	NM_017410.3(HOXC13):c.280A>G (p.Thr94Ala)	HOXC13, HOXC13-AS (T94A)	Single nucleotide variant (missense variant)	HOXC13-related disorder	GUncertain significance
Select item 2779378	NM_017410.3(HOXC13):c.639C>T (p.Gly213=)	HOXC13, HOXC13-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2723989	NM_017410.3(HOXC13):c.131dup (p.Gly45fs)	HOXC13, HOXC13-AS (G45fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 2618331	NM_017410.3(HOXC13):c.442C>T (p.His148Tyr)	HOXC13, HOXC13-AS (H148Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594562	NM_017410.3(HOXC13):c.549G>C (p.Gln183His)	HOXC13, HOXC13-AS (Q183H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488584	NM_017410.3(HOXC13):c.272C>T (p.Ala91Val)	HOXC13, HOXC13-AS (A91V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481190	NM_017410.3(HOXC13):c.615C>G (p.His205Gln)	HOXC13, HOXC13-AS (H205Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2469060	NM_017410.3(HOXC13):c.359G>T (p.Gly120Val)	HOXC13, HOXC13-AS (G120V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466574	NM_017410.3(HOXC13):c.53T>C (p.Val18Ala)	HOXC13, HOXC13-AS (V18A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463867	NM_017410.3(HOXC13):c.265C>G (p.Gln89Glu)	HOXC13, HOXC13-AS (Q89E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458697	NM_017410.3(HOXC13):c.91G>A (p.Gly31Ser)	HOXC13, HOXC13-AS (G31S)	Single nucleotide variant (missense variant)	not specified	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 2329676	NM_017410.3(HOXC13):c.601C>T (p.Pro201Ser)	HOXC13, HOXC13-AS (P201S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2317490	NM_017410.3(HOXC13):c.408C>G (p.His136Gln)	HOXC13, HOXC13-AS (H136Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284066	NM_017410.3(HOXC13):c.386A>G (p.Tyr129Cys)	HOXC13, HOXC13-AS (Y129C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282327	NM_017410.3(HOXC13):c.100G>A (p.Gly34Arg)	HOXC13, HOXC13-AS (G34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264497	NM_017410.3(HOXC13):c.335C>T (p.Pro112Leu)	HOXC13, HOXC13-AS (P112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263049	NM_017410.3(HOXC13):c.329C>T (p.Ala110Val)	HOXC13, HOXC13-AS (A110V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254514	NM_017410.3(HOXC13):c.302C>T (p.Ala101Val)	HOXC13, HOXC13-AS (A101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2179811	NM_017410.3(HOXC13):c.112G>A (p.Gly38Ser)	HOXC13, HOXC13-AS (G38S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071049	NM_017410.3(HOXC13):c.84CGG[6] (p.Gly38_Thr39insGly)	HOXC13, HOXC13-AS	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2033340	NM_017410.3(HOXC13):c.45_47dup (p.Leu15_Met16insIle)	HOXC13, HOXC13-AS	Duplication (inframe_insertion)	not provided	GBenign
Select item 1665359	NM_017410.3(HOXC13):c.61G>A (p.Asp21Asn)	HOXC13, HOXC13-AS (D21N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1588495	NM_017410.3(HOXC13):c.281C>A (p.Thr94Lys)	HOXC13, HOXC13-AS (T94K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1311926	NM_017410.3(HOXC13):c.260C>T (p.Ala87Val)	HOXC13, HOXC13-AS (A87V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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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Links from Gene

Items: 41