ClinVar for MedGen (Select 91010) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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 66333	NM_000526.5(KRT14):c.19C>T (p.Gln7Ter)	KRT14 (Q7*)	Single nucleotide variant (nonsense)	Naegeli-Franceschetti-Jadassohn syndrome	GPathogenic
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 66329	NM_000526.5(KRT14):c.17del (p.Arg6fs)	KRT14 (R6fs)	Deletion (frameshift variant)	Naegeli-Franceschetti-Jadassohn syndrome	GPathogenic
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

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