C0079295[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 14641	NM_000424.4(KRT5):c.980T>C (p.Met327Thr)	KRT5 (M327T)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 1C, localized +7 more	GPathogenic
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 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 66319	NM_000526.5(KRT14):c.1237G>A (p.Ala413Thr)	KRT14 (A413T)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 66346	NM_000526.5(KRT14):c.369T>C (p.Asn123=)	KRT14	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 1A, generalized severe +7 more	GBenign
Select item 66332	NM_000526.5(KRT14):c.193C>T (p.Leu65=)	KRT14	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 66331	NM_000526.5(KRT14):c.189C>T (p.Cys63=)	KRT14	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 1668287	NM_000526.5(KRT14):c.188G>A (p.Cys63Tyr)	KRT14 (C63Y)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign
Select item 781859	NM_000526.5(KRT14):c.166C>T (p.Arg56Cys)	KRT14 (R56C)	Single nucleotide variant (missense variant)	Naegeli-Franceschetti-Jadassohn syndrome +6 more	GBenign/Likely benign