ClinVar for MedGen (Select 353335) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1414941	NM_005557.4(KRT16):c.933+18del	KRT16	Deletion (intron variant)	Pachyonychia congenita 1 +2 more	GUncertain significance
Select item 1300085	NM_005557.4(KRT16):c.1281-16T>C	KRT16	Single nucleotide variant (intron variant)	Pachyonychia congenita 1 +2 more	GBenign
Select item 1264136	NM_005557.4(KRT16):c.624T>C (p.His208=)	KRT16	Single nucleotide variant (synonymous variant)	Pachyonychia congenita 1 +2 more	GBenign
Select item 791432	NM_005557.4(KRT16):c.644C>G (p.Thr215Ser)	KRT16 (T215S)	Single nucleotide variant (missense variant)	Pachyonychia congenita 1 +2 more	GConflicting classifications of pathogenicity
Select item 786318	NM_005557.4(KRT16):c.67G>A (p.Gly23Ser)	KRT16 (G23S)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, nonepidermolytic, focal 1 +2 more	GBenign/Likely benign
Select item 587419	NM_005557.4(KRT16):c.539C>T (p.Ala180Val)	KRT16 (A180V)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, epidermolytic +2 more	GConflicting classifications of pathogenicity
Select item 265217	NM_005557.4(KRT16):c.379C>G (p.Arg127Gly)	KRT16 (R127G)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, nonepidermolytic, focal 1 +2 more	GPathogenic/Likely pathogenic
Select item 216955	NM_005557.4(KRT16):c.365A>G (p.Gln122Arg)	KRT16 (Q122R)	Single nucleotide variant (missense variant)	Pachyonychia congenita 1	GLikely pathogenic
Select item 156024	NM_005557.4(KRT16):c.373_374delinsGG (p.Asn125Gly)	KRT16 (N125G)	Indel (missense variant)	Pachyonychia congenita 1	GPathogenic
Select item 66608	NM_005557.4(KRT16):c.373A>G (p.Asn125Asp)	KRT16 (N125D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66605	NM_005557.4(KRT16):c.371T>A (p.Leu124His)	KRT16 (L124H)	Single nucleotide variant (missense variant)	Pachyonychia congenita 1 +2 more	GPathogenic/Likely pathogenic
Select item 14609	NM_005557.4(KRT16):c.383T>A (p.Leu128Gln)	KRT16 (L128Q)	Single nucleotide variant (missense variant)	Pachyonychia congenita 1	GPathogenic
Select item 14608	NM_005557.4(KRT16):c.362T>C (p.Met121Thr)	KRT16 (M121T)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, nonepidermolytic, focal 1 +2 more	GPathogenic/Likely pathogenic
Select item 14607	NM_005557.4(KRT16):c.1062A>T (p.Lys354Asn)	KRT16 (K354N)	Single nucleotide variant (missense variant)	Pachyonychia congenita 1 +2 more	GConflicting classifications of pathogenicity
Select item 14606	NM_005557.4(KRT16):c.371T>G (p.Leu124Arg)	KRT16 (L124R)	Single nucleotide variant (missense variant)	Pachyonychia congenita 1	GPathogenic
Select item 14605	NM_005557.4(KRT16):c.365A>C (p.Gln122Pro)	KRT16 (Q122P)	Single nucleotide variant (missense variant)	Pachyonychia congenita 1	GPathogenic
Select item 14604	NM_005557.4(KRT16):c.380G>C (p.Arg127Pro)	KRT16 (R127P)	Single nucleotide variant (missense variant)	Pachyonychia congenita 1	GPathogenic
Select item 14603	NM_005557.4(KRT16):c.386CCT[1] (p.Ser130del)	KRT16 (S130del)	Microsatellite (inframe_deletion)	not provided	GPathogenic
Select item 14602	NM_005557.4(KRT16):c.374A>G (p.Asn125Ser)	KRT16 (N125S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 14601	NM_005557.4(KRT16):c.379C>T (p.Arg127Cys)	KRT16 (R127C)	Single nucleotide variant (missense variant)	KRT16-related disorder +3 more	GPathogenic
Select item 14600	NM_005557.4(KRT16):c.395T>C (p.Leu132Pro)	KRT16 (L132P)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 21