"Ambry Genetics"[submitter] AND "KRT2"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2140125	NM_000423.3(KRT2):c.1900G>A (p.Val634Met)	KRT2 (V634M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3116362	NM_000423.3(KRT2):c.1873A>G (p.Ser625Gly)	KRT2 (S625G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2299871	NM_000423.3(KRT2):c.1723T>G (p.Ser575Ala)	KRT2 (S575A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289353	NM_000423.3(KRT2):c.1642T>A (p.Ser548Thr)	KRT2 (S548T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347137	NM_000423.3(KRT2):c.1631G>A (p.Arg544Gln)	KRT2 (R544Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394464	NM_000423.3(KRT2):c.1618G>A (p.Gly540Ser)	KRT2 (G540S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3289358	NM_000423.3(KRT2):c.1588G>A (p.Gly530Arg)	KRT2 (G530R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116361	NM_000423.3(KRT2):c.1567G>T (p.Gly523Cys)	KRT2 (G523C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473415	NM_000423.3(KRT2):c.1480G>C (p.Asp494His)	KRT2 (D494H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 309601	NM_000423.3(KRT2):c.1478G>T (p.Gly493Val)	KRT2 (G493V)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens +1 more	GConflicting classifications of pathogenicity
Select item 2210196	NM_000423.3(KRT2):c.1432G>A (p.Ala478Thr)	KRT2 (A478T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116360	NM_000423.3(KRT2):c.1405G>T (p.Val469Leu)	KRT2 (V469L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289357	NM_000423.3(KRT2):c.1400T>C (p.Met467Thr)	KRT2 (M467T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289356	NM_000423.3(KRT2):c.1396C>G (p.Leu466Val)	KRT2 (L466V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116359	NM_000423.3(KRT2):c.1282G>A (p.Glu428Lys)	KRT2 (E428K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345500	NM_000423.3(KRT2):c.1249T>C (p.Cys417Arg)	KRT2 (C417R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290396	NM_000423.3(KRT2):c.1230C>G (p.Ile410Met)	KRT2 (I410M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484830	NM_000423.3(KRT2):c.1114C>A (p.His372Asn)	KRT2 (H372N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390999	NM_000423.3(KRT2):c.1106C>T (p.Ala369Val)	KRT2 (A369V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256576	NM_000423.3(KRT2):c.1094A>G (p.Glu365Gly)	KRT2 (E365G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540578	NM_000423.3(KRT2):c.1089C>G (p.Ser363Arg)	KRT2 (S363R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243338	NM_000423.3(KRT2):c.1070A>G (p.Glu357Gly)	KRT2 (E357G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116365	NM_000423.3(KRT2):c.832G>A (p.Ala278Thr)	KRT2 (A278T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618395	NM_000423.3(KRT2):c.710A>G (p.Lys237Arg)	KRT2 (K237R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364768	NM_000423.3(KRT2):c.661C>T (p.Arg221Cys)	KRT2 (R221C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2614725	NM_000423.3(KRT2):c.659C>T (p.Thr220Ile)	KRT2 (T220I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481880	NM_000423.3(KRT2):c.659C>A (p.Thr220Asn)	KRT2 (T220N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289359	NM_000423.3(KRT2):c.493G>C (p.Val165Leu)	KRT2 (V165L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286490	NM_000423.3(KRT2):c.493G>A (p.Val165Met)	KRT2 (V165M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116364	NM_000423.3(KRT2):c.475C>G (p.Leu159Val)	KRT2 (L159V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551570	NM_000423.3(KRT2):c.446G>T (p.Gly149Val)	KRT2 (G149V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473727	NM_000423.3(KRT2):c.341G>A (p.Gly114Asp)	KRT2 (G114D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289354	NM_000423.3(KRT2):c.319G>A (p.Gly107Ser)	KRT2 (G107S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313082	NM_000423.3(KRT2):c.295G>A (p.Gly99Ser)	KRT2 (G99S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116363	NM_000423.3(KRT2):c.275G>A (p.Arg92Lys)	KRT2 (R92K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223268	NM_000423.3(KRT2):c.259G>C (p.Gly87Arg)	KRT2 (G87R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320352	NM_000423.3(KRT2):c.253G>A (p.Ala85Thr)	KRT2 (A85T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481879	NM_000423.3(KRT2):c.206C>G (p.Thr69Ser)	KRT2 (T69S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3289351	NM_000423.3(KRT2):c.197T>C (p.Leu66Pro)	KRT2 (L66P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377370	NM_000423.3(KRT2):c.73G>A (p.Gly25Ser)	KRT2 (G25S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289355	NM_000423.3(KRT2):c.59G>A (p.Arg20Gln)	KRT2 (R20Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 41