Related gene-specific medical variations for Gene (Select 126861525) - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2919082	NM_000424.4(KRT5):c.1439+6T>C	KRT5, LOC126861525	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2847577	NM_000424.4(KRT5):c.1437C>A (p.Cys479Ter)	KRT5, LOC126861525 (C479*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2765862	NM_000424.4(KRT5):c.1398G>T (p.Glu466Asp)	KRT5, LOC126861525 (E466D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2590336	NM_000424.4(KRT5):c.1171C>T (p.Arg391Trp)	KRT5, LOC126861525 (R391W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412999	NM_000424.4(KRT5):c.1392C>A (p.Asp464Glu)	KRT5, LOC126861525 (D464E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2395495	NM_000424.4(KRT5):c.1124A>G (p.His375Arg)	KRT5, LOC126861525 (H375R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2292894	NM_000424.4(KRT5):c.1222G>A (p.Ala408Thr)	KRT5, LOC126861525 (A408T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2199930	NM_000424.4(KRT5):c.1259G>A (p.Arg420His)	KRT5, LOC126861525 (R420H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800552	NM_000424.4(KRT5):c.1408T>C (p.Tyr470His)	KRT5, LOC126861525 (Y470H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1652198	NM_000424.4(KRT5):c.1439+18A>G	KRT5, LOC126861525	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1468538	NM_000424.4(KRT5):c.1421T>C (p.Leu474Pro)	KRT5, LOC126861525 (L474P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339349	NM_000424.4(KRT5):c.1321_1332del (p.Lys441_Gln444del)	KRT5, LOC126861525	Deletion (inframe_deletion)	Epidermolysis bullosa simplex with migratory circinate erythema	GPathogenic
Select item 1248336	NM_000424.4(KRT5):c.1219-46C>A	KRT5, LOC126861525	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247569	NM_000424.4(KRT5):c.1218+40T>C	KRT5, LOC126861525	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235547	NM_000424.4(KRT5):c.1219-71T>C	KRT5, LOC126861525	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198522	NM_000424.4(KRT5):c.1270G>C (p.Ala424Pro)	KRT5, LOC126861525 (A424P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1194325	NM_000424.4(KRT5):c.1438A>T (p.Arg480Ter)	KRT5, LOC126861525 (R480*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1047992	NM_000424.4(KRT5):c.1406C>G (p.Thr469Ser)	KRT5, LOC126861525 (T469S)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +1 more	GConflicting classifications of pathogenicity
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 884127	NM_000424.4(KRT5):c.1244C>T (p.Ala415Val)	KRT5, LOC126861525 (A415V)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 884126	NM_000424.4(KRT5):c.1263G>A (p.Gly421=)	KRT5, LOC126861525	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 884125	NM_000424.4(KRT5):c.1344G>A (p.Arg448=)	KRT5, LOC126861525	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 816993	NM_000424.4(KRT5):c.1409dup (p.Tyr470Ter)	KRT5, LOC126861525 (Y470*)	Duplication (nonsense)	not provided	GPathogenic
Select item 739115	NM_000424.4(KRT5):c.1383G>A (p.Leu461=)	KRT5, LOC126861525	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718179	NM_000424.4(KRT5):c.1195G>A (p.Glu399Lys)	KRT5, LOC126861525 (E399K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 620350	NM_000424.4(KRT5):c.1363G>T (p.Glu455Ter)	KRT5, LOC126861525 (E455*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 452356	NM_000424.4(KRT5):c.1278_1289dup (p.Lys426_Arg429dup)	KRT5, LOC126861525	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 451363	NM_000424.4(KRT5):c.1273_1299del (p.Leu425_Ala433del)	KRT5, LOC126861525	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 450862	NM_000424.4(KRT5):c.1352G>A (p.Arg451His)	KRT5, LOC126861525 (R451H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 429584	NM_000424.4(KRT5):c.1402G>T (p.Ala468Ser)	KRT5, LOC126861525 (A468S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 309562	NM_000424.4(KRT5):c.1118G>C (p.Gly373Ala)	KRT5, LOC126861525 (G373A)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 309561	NM_000424.4(KRT5):c.1194C>T (p.Ala398=)	KRT5, LOC126861525	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 309560	NM_000424.4(KRT5):c.1236C>T (p.Asn412=)	KRT5, LOC126861525	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 66220	NM_000424.4(KRT5):c.1438A>G (p.Arg480Gly)	KRT5, LOC126861525 (R480G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66219	NM_000424.4(KRT5):c.1437del (p.Glu478_Cys479insTer)	KRT5, LOC126861525	Deletion (nonsense)	not provided	Gnot provided
Select item 66218	NM_000424.4(KRT5):c.1432G>A (p.Glu478Lys)	KRT5, LOC126861525 (E478K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66217	NM_000424.4(KRT5):c.1430A>G (p.Glu477Gly)	KRT5, LOC126861525 (E477G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66216	NM_000424.4(KRT5):c.1427G>C (p.Gly476Ala)	KRT5, LOC126861525 (G476A)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66215	NM_000424.4(KRT5):c.1427G>A (p.Gly476Asp)	KRT5, LOC126861525 (G476D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 66214	NM_000424.4(KRT5):c.1423G>A (p.Glu475Lys)	KRT5, LOC126861525 (E475K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66213	NM_000424.4(KRT5):c.1411C>T (p.Arg471Cys)	KRT5, LOC126861525 (R471C)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex, Koebner type +4 more	GConflicting classifications of pathogenicity
Select item 66212	NM_000424.4(KRT5):c.1405A>C (p.Thr469Pro)	KRT5, LOC126861525 (T469P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66211	NM_000424.4(KRT5):c.1401C>G (p.Ile467Met)	KRT5, LOC126861525 (I467M)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66210	NM_000424.4(KRT5):c.1400T>C (p.Ile467Thr)	KRT5, LOC126861525 (I467T)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 66209	NM_000424.4(KRT5):c.1399A>C (p.Ile467Leu)	KRT5, LOC126861525 (I467L)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 66207	NM_000424.4(KRT5):c.1362_1365delinsAGCTGGTA (p.Glu455fs)	KRT5, LOC126861525 (E455fs)	Indel (frameshift variant)	not provided	Gnot provided
Select item 66206	NM_000424.4(KRT5):c.1329G>C (p.Lys443Asn)	KRT5, LOC126861525 (K443N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66205	NM_000424.4(KRT5):c.1313C>A (p.Ala438Asp)	KRT5, LOC126861525 (A438D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 66204	NM_000424.4(KRT5):c.1285_1299del (p.Arg429_Ala433del)	KRT5, LOC126861525	Deletion (inframe_deletion)	not provided	Gnot provided
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 66201	NM_000424.4(KRT5):c.1210A>G (p.Lys404Glu)	KRT5, LOC126861525 (K404E)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66200	NM_000424.4(KRT5):c.1159T>A (p.Ser387Thr)	KRT5, LOC126861525 (S387T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 21174	NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys)	KRT5, LOC126861525 (E477K)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 1C, localized +3 more	GPathogenic
Select item 14658	NM_000424.4(KRT5):c.1252G>A (p.Glu418Lys)	KRT5, LOC126861525 (E418K)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 2C, localized, modifier of	Grisk factor
Select item 14654	NM_000424.4(KRT5):c.1414A>T (p.Lys472Ter)	KRT5, LOC126861525 (K472*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex 2B, generalized intermediate	GPathogenic
Select item 14653	NM_000424.4(KRT5):c.1429G>T (p.Glu477Ter)	KRT5, LOC126861525 (E477*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex 2A, generalized severe	GPathogenic
Select item 14639	NM_000424.4(KRT5):c.1388T>C (p.Leu463Pro)	LOC126861525, KRT5 (L463P)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +1 more	GPathogenic
Select item 14638	NM_000424.4(KRT5):c.1424A>G (p.Glu475Gly)	KRT5, LOC126861525 (E475G)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 2A, generalized severe	GPathogenic

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Items: 61