"PreventionGenetics, part of Exact Sciences"[submitter] AND "KRT5"[gen - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3031060	NM_000424.4(KRT5):c.1754G>A (p.Arg585Gln)	KRT5 (R585Q)	Single nucleotide variant (missense variant)	KRT5-related disorder	GUncertain significance
Select item 265219	NM_000424.4(KRT5):c.1675C>T (p.Arg559Ter)	KRT5 (R559*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 14655	NM_000424.4(KRT5):c.1649del (p.Gly550fs)	KRT5 (G550fs)	Deletion (frameshift variant)	KRT5-related disorder +2 more	GPathogenic
Select item 66226	NM_000424.4(KRT5):c.1636C>A (p.Leu546Ile)	KRT5 (L546I)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 1C, localized +2 more	GBenign/Likely benign
Select item 66224	NM_000424.4(KRT5):c.1627G>A (p.Gly543Ser)	KRT5 (G543S)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +2 more	GBenign
Select item 66223	NM_000424.4(KRT5):c.1582A>G (p.Ser528Gly)	KRT5 (S528G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 738551	NM_000424.4(KRT5):c.1440-6T>C	KRT5	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 309560	NM_000424.4(KRT5):c.1236C>T (p.Asn412=)	KRT5, LOC126861525	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex +2 more	GBenign/Likely benign
Select item 309563	NM_000424.4(KRT5):c.1071C>T (p.Ala357=)	KRT5	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex +2 more	GBenign/Likely benign
Select item 66198	NM_000424.4(KRT5):c.1065A>C (p.Thr355=)	KRT5	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 66299	NM_000424.4(KRT5):c.992G>A (p.Arg331His)	KRT5 (R331H)	Single nucleotide variant (missense variant)	KRT5-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 14641	NM_000424.4(KRT5):c.980T>C (p.Met327Thr)	KRT5 (M327T)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 1C, localized +8 more	GPathogenic/Likely pathogenic
Select item 66289	NM_000424.4(KRT5):c.974T>C (p.Leu325Pro)	KRT5 (L325P)	Single nucleotide variant (missense variant)	KRT5-related disorder	GLikely pathogenic
Select item 66283	NM_000424.4(KRT5):c.732G>A (p.Leu244=)	KRT5, LOC126861526	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex +2 more	GBenign
Select item 235206	NM_000424.4(KRT5):c.631G>A (p.Val211Met)	KRT5, LOC126861526 (V211M)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +2 more	GBenign/Likely benign
Select item 66282	NM_000424.4(KRT5):c.630T>C (p.Thr210=)	KRT5, LOC126861526	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 66277	NM_000424.4(KRT5):c.594C>A (p.Thr198=)	KRT5, LOC126861526	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 1 +10 more	GBenign
Select item 66275	NM_000424.4(KRT5):c.591C>A (p.Asp197Glu)	KRT5, LOC126861526 (D197E)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +2 more	GBenign
Select item 256044	NM_000424.4(KRT5):c.556-15C>T	KRT5, LOC126861526	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 3042791	NM_000424.4(KRT5):c.556-25A>G	KRT5, LOC126861526	Single nucleotide variant (intron variant)	KRT5-related disorder	GLikely benign
Select item 66264	NM_000424.4(KRT5):c.555+9C>T	KRT5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 14657	NM_000424.4(KRT5):c.508G>A (p.Glu170Lys)	KRT5 (E170K)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +2 more	GPathogenic
Select item 14640	NM_000424.4(KRT5):c.482T>G (p.Ile161Ser)	KRT5 (I161S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 2631461	NM_000424.4(KRT5):c.434T>G (p.Val145Gly)	KRT5 (V145G)	Single nucleotide variant (missense variant)	KRT5-related disorder	GLikely pathogenic
Select item 66234	NM_000424.4(KRT5):c.413G>A (p.Gly138Glu)	KRT5 (G138E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 256043	NM_000424.4(KRT5):c.351C>T (p.Leu117=)	KRT5	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1314293	NM_000424.4(KRT5):c.322G>A (p.Gly108Ser)	KRT5 (G108S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 309571	NM_000424.4(KRT5):c.259T>G (p.Phe87Val)	KRT5 (F87V)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +2 more	GBenign
Select item 256041	NM_000424.4(KRT5):c.156G>A (p.Ala52=)	KRT5	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 309572	NM_000424.4(KRT5):c.142A>C (p.Arg48=)	KRT5	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex +2 more	GBenign
Select item 14648	NM_000424.4(KRT5):c.74C>T (p.Pro25Leu)	KRT5 (P25L)	Single nucleotide variant (missense variant)	KRT5-related disorder +2 more	GPathogenic
Select item 309576	NM_000424.4(KRT5):c.39C>T (p.Gly13=)	KRT5	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex +2 more	GBenign/Likely benign
Select item 256042	NM_000424.4(KRT5):c.30G>A (p.Arg10=)	KRT5	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

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Items: 33