C0079298[trait identifier] AND "Biomedical Innovation Departament, CIE - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1048030	NM_201384.3(PLEC):c.9294del (p.Glu3099fs)	PLEC (E3067fs +6 more)	Deletion (frameshift variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 1048029	NM_201384.3(PLEC):c.5663del (p.Lys1888fs)	PLEC (K1856fs +6 more)	Deletion (frameshift variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 1048028	NM_201384.3(PLEC):c.3850C>T (p.Leu1284Phe)	PLEC (L1252F +6 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +5 more	GConflicting classifications of pathogenicity
Select item 14655	NM_000424.4(KRT5):c.1649del (p.Gly550fs)	KRT5 (G550fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 21174	NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys)	KRT5, LOC126861525 (E477K)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 1047992	NM_000424.4(KRT5):c.1406C>G (p.Thr469Ser)	KRT5, LOC126861525 (T469S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 66208	NM_000424.4(KRT5):c.1398G>C (p.Glu466Asp)	KRT5, LOC126861525 (E466D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1047991	NM_000424.4(KRT5):c.1396G>C (p.Glu466Gln)	KRT5, LOC126861525 (E466Q)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 14639	NM_000424.4(KRT5):c.1388T>C (p.Leu463Pro)	KRT5, LOC126861525 (L463P)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +1 more	GPathogenic
Select item 66203	NM_000424.4(KRT5):c.1283C>T (p.Ala428Val)	KRT5, LOC126861525 (A428V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 66202	NM_000424.4(KRT5):c.1282G>A (p.Ala428Thr)	KRT5, LOC126861525 (A428T)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 66293	NM_000424.4(KRT5):c.983A>T (p.Asp328Val)	KRT5 (D328V)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 1047990	NM_000424.4(KRT5):c.961A>C (p.Thr321Pro)	KRT5 (T321P)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 1047989	NM_000424.4(KRT5):c.771delG	KRT5	Deletion (splice acceptor variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 1047988	NM_000424.4(KRT5):c.587T>C (p.Leu196Pro)	KRT5, LOC126861526 (L196P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 1047987	NM_000424.4(KRT5):c.571C>G (p.Gln191Glu)	LOC126861526, KRT5 (Q191E)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 66268	NM_000424.4(KRT5):c.557T>A (p.Val186Glu)	KRT5, LOC126861526 (V186E)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 66267	NM_000424.4(KRT5):c.556G>A (p.Val186Met)	KRT5, LOC126861526 (V186M)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +1 more	GPathogenic
Select item 14652	NM_000424.4(KRT5):c.556G>T (p.Val186Leu)	KRT5, LOC126861526 (V186L)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 1047955	NM_000424.4(KRT5):c.556-16C>G	KRT5, LOC126861526	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex	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 66246	NM_000424.4(KRT5):c.495G>T (p.Arg165Ser)	KRT5 (R165S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 14648	NM_000424.4(KRT5):c.74C>T (p.Pro25Leu)	KRT5 (P25L)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +2 more	GPathogenic
Select item 1048027	NM_000526.5(KRT14):c.1274+5G>C	KRT14	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 66322	NM_000526.5(KRT14):c.1244A>G (p.Tyr415Cys)	KRT14 (Y415C)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 66316	NM_000526.5(KRT14):c.1231_1233del (p.Glu411del)	KRT14 (E411del)	Deletion (inframe_deletion)	Epidermolysis bullosa simplex	GPathogenic
Select item 1048026	NM_000526.5(KRT14):c.1223T>A (p.Leu408Gln)	KRT14 (L408Q)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 1048025	NM_000526.5(KRT14):c.1205T>G (p.Leu402Arg)	KRT14 (L402R)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 1048024	NM_000526.5(KRT14):c.1144G>T (p.Glu382Ter)	KRT14 (E382*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex	GPathogenic
Select item 66375	NM_000526.5(KRT14):c.749del (p.Lys250fs)	KRT14 (K250fs)	Deletion (frameshift variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 66358	NM_000526.5(KRT14):c.397G>T (p.Val133Leu)	KRT14 (V133L)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +1 more	GPathogenic
Select item 66353	NM_000526.5(KRT14):c.385T>G (p.Tyr129Asp)	KRT14 (Y129D)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GPathogenic
Select item 14612	NM_000526.5(KRT14):c.373C>T (p.Arg125Cys)	KRT14 (R125C)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +3 more	GPathogenic
Select item 66339	NM_000526.5(KRT14):c.346A>T (p.Lys116Ter)	KRT14 (K116*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex	GPathogenic

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Items: 35