ClinVar for MedGen (Select 1794221) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382368	NM_000424.4(KRT5):c.1434A>C (p.Glu478Asp)	KRT5, LOC126861525 (E478D)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex with migratory circinate erythema +6 more	GUncertain significance
Select item 2765862	NM_000424.4(KRT5):c.1398G>T (p.Glu466Asp)	KRT5, LOC126861525 (E466D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 309575	NM_000424.4(KRT5):c.110G>A (p.Arg37Gln)	KRT5 (R37Q)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +9 more	GBenign/Likely benign
Select item 66277	NM_000424.4(KRT5):c.594C>A (p.Thr198=)	KRT5, LOC126861526	Single nucleotide variant (synonymous variant)	not specified +10 more	GBenign
Select item 66225	NM_000424.4(KRT5):c.1635del (p.Leu546fs)	KRT5 (L546fs)	Deletion (frameshift variant)	Epidermolysis bullosa simplex 2C, localized	GPathogenic
Select item 14657	NM_000424.4(KRT5):c.508G>A (p.Glu170Lys)	KRT5 (E170K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 14644	NM_000424.4(KRT5):c.579C>G (p.Asn193Lys)	KRT5, LOC126861526 (N193K)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 14642	NM_000424.4(KRT5):c.987C>A (p.Asn329Lys)	KRT5 (N329K)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 2C, localized	GPathogenic
Select item 14641	NM_000424.4(KRT5):c.980T>C (p.Met327Thr)	KRT5 (M327T)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Koebner type +7 more	GPathogenic
Select item 14640	NM_000424.4(KRT5):c.482T>G (p.Ile161Ser)	KRT5 (I161S)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 1C, localized +1 more	GPathogenic