C0432316[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21174	NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys)	KRT5, LOC126861525 (E477K)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 1C, localized +3 more	GPathogenic
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 309575	NM_000424.4(KRT5):c.110G>A (p.Arg37Gln)	KRT5 (R37Q)	Single nucleotide variant (missense variant)	not provided +9 more	GBenign/Likely benign

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ClinVar