ClinVar for MedGen (Select 1794134) - ClinVar

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Items: 21

	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 1338973	NM_000526.5(KRT14):c.373C>A (p.Arg125Ser)	KRT14 (R125S)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Koebner type	GUncertain significance
Select item 781859	NM_000526.5(KRT14):c.166C>T (p.Arg56Cys)	KRT14 (R56C)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 1A, generalized severe +6 more	GBenign/Likely benign
Select item 438651	NM_000424.4(KRT5):c.1394T>G (p.Val465Gly)	KRT5, LOC126861525 (V465G)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Koebner type	GLikely pathogenic
Select item 370042	NM_017644.3(KLHL24):c.2T>C (p.Met1Thr)	KLHL24 (M1T)	Single nucleotide variant (missense variant +3 more)	Epidermolysis bullosa simplex, Koebner type	GPathogenic
Select item 264648	NM_017644.3(KLHL24):c.1A>G (p.Met1Val)	KLHL24 (M1V)	Single nucleotide variant (missense variant +3 more)	Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss +2 more	GPathogenic
Select item 264647	NM_017644.3(KLHL24):c.3G>T (p.Met1Ile)	KLHL24 (M1I)	Single nucleotide variant (missense variant +3 more)	Epidermolysis bullosa simplex, Koebner type	GPathogenic
Select item 264646	NM_017644.3(KLHL24):c.3G>A (p.Met1Ile)	KLHL24 (M1I)	Single nucleotide variant (missense variant +3 more)	Epidermolysis bullosa simplex, Koebner type	GPathogenic
Select item 66377	NM_000526.5(KRT14):c.808G>A (p.Val270Met)	KRT14 (V270M)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Koebner type	GPathogenic
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 66341	NM_000526.5(KRT14):c.355A>G (p.Met119Val)	KRT14 (M119V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 66332	NM_000526.5(KRT14):c.193C>T (p.Leu65=)	KRT14	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex 1A, generalized severe +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 66319	NM_000526.5(KRT14):c.1237G>A (p.Ala413Thr)	KRT14 (A413T)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 1A, generalized severe +6 more	GBenign/Likely benign
Select item 66315	NM_000526.5(KRT14):c.1231G>T (p.Glu411Ter)	KRT14 (E411*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex, Koebner type	GPathogenic
Select item 66213	NM_000424.4(KRT5):c.1411C>T (p.Arg471Cys)	KRT5, LOC126861525 (R471C)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 1C, localized +4 more	GConflicting classifications of pathogenicity
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 14621	NM_000526.5(KRT14):c.1243T>C (p.Tyr415His)	KRT14 (Y415H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 14617	NM_000526.5(KRT14):c.815T>G (p.Met272Arg)	KRT14 (M272R)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Koebner type	GPathogenic
Select item 14612	NM_000526.5(KRT14):c.373C>T (p.Arg125Cys)	KRT14 (R125C)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Koebner type +3 more	GPathogenic
Select item 14611	NM_000526.5(KRT14):c.1151T>C (p.Leu384Pro)	KRT14 (L384P)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 1A, generalized severe +1 more	GPathogenic/Likely pathogenic

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Items: 21