Related gene-specific medical variations for Gene (Select 3852) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3042791	NM_000424.4(KRT5):c.556-25A>G	KRT5, LOC126861526	Single nucleotide variant (intron variant)	KRT5-related condition	GLikely benign
Select item 3008000	NM_000424.4(KRT5):c.770+7T>G	KRT5, LOC126861526	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007103	NM_000424.4(KRT5):c.589G>A (p.Asp197Asn)	KRT5, LOC126861526 (D197N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976079	NM_000424.4(KRT5):c.709C>T (p.Arg237Trp)	KRT5, LOC126861526 (R237W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2844568	NM_000424.4(KRT5):c.569A>G (p.Glu190Gly)	KRT5, LOC126861526 (E190G)	Single nucleotide variant (missense variant)	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 2713861	NM_000424.4(KRT5):c.657C>T (p.Phe219=)	KRT5, LOC126861526	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643029	NM_000424.4(KRT5):c.681G>A (p.Arg227=)	KRT5, LOC126861526	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610225	NM_000424.4(KRT5):c.694A>G (p.Ser232Gly)	KRT5, LOC126861526 (S232G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2576144	NM_000424.4(KRT5):c.566T>C (p.Leu189Pro)	KRT5, LOC126861526 (L189P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2433269	NM_000424.4(KRT5):c.715C>T (p.Arg239Cys)	KRT5, LOC126861526 (R239C)	Single nucleotide variant (missense variant)	not provided	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 2291952	NM_000424.4(KRT5):c.662A>T (p.Gln221Leu)	KRT5, LOC126861526 (Q221L)	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 2137373	NM_000424.4(KRT5):c.597G>C (p.Lys199Asn)	KRT5, LOC126861526 (K199N)	Single nucleotide variant (missense variant)	Dowling-Degos disease 1 +1 more	GPathogenic/Likely pathogenic
Select item 1947416	NM_000424.4(KRT5):c.604C>G (p.Leu202Val)	KRT5, LOC126861526 (L202V)	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 1657222	NM_000424.4(KRT5):c.556-16C>T	KRT5, LOC126861526	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652198	NM_000424.4(KRT5):c.1439+18A>G	KRT5, LOC126861525	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1520153	NM_000424.4(KRT5):c.557T>G (p.Val186Gly)	KRT5, LOC126861526 (V186G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1412108	NM_000424.4(KRT5):c.630_631inv (p.Val211Met)	KRT5, LOC126861526 (V211M)	Inversion (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 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 1047987	NM_000424.4(KRT5):c.571C>G (p.Gln191Glu)	LOC126861526, KRT5 (Q191E)	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 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 882223	NM_000424.4(KRT5):c.556-4C>A	KRT5, LOC126861526	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 882222	NM_000424.4(KRT5):c.560G>A (p.Arg187Gln)	KRT5, LOC126861526 (R187Q)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GLikely benign
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 309566	NM_000424.4(KRT5):c.702G>T (p.Val234=)	KRT5, LOC126861526	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex	GUncertain significance
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 256044	NM_000424.4(KRT5):c.556-15C>T	KRT5, LOC126861526	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 235206	NM_000424.4(KRT5):c.631G>A (p.Val211Met)	KRT5, LOC126861526 (V211M)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +2 more	GBenign/Likely benign
Select item 66297	NM_000424.4(KRT5):c.991C>G (p.Arg331Gly)	KRT5 (R331G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66296	NM_000424.4(KRT5):c.991C>A (p.Arg331Ser)	KRT5 (R331S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66295	NM_000424.4(KRT5):c.986A>G (p.Asn329Ser)	KRT5 (N329S)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 66294	NM_000424.4(KRT5):c.984C>A (p.Asp328Glu)	KRT5 (D328E)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66292	NM_000424.4(KRT5):c.983A>G (p.Asp328Gly)	KRT5 (D328G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66291	NM_000424.4(KRT5):c.982G>C (p.Asp328His)	KRT5 (D328H)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66290	NM_000424.4(KRT5):c.980T>A (p.Met327Lys)	KRT5 (M327K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66288	NM_000424.4(KRT5):c.971T>C (p.Val324Ala)	KRT5 (V324A)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66287	NM_000424.4(KRT5):c.971T>A (p.Val324Asp)	KRT5 (V324D)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66285	NM_000424.4(KRT5):c.932T>G (p.Leu311Arg)	KRT5 (L311R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66284	NM_000424.4(KRT5):c.794G>C (p.Arg265Pro)	KRT5 (R265P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66283	NM_000424.4(KRT5):c.732G>A (p.Leu244=)	KRT5, LOC126861526	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex +2 more	GBenign
Select item 66282	NM_000424.4(KRT5):c.630T>C (p.Thr210=)	KRT5, LOC126861526	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 66281	NM_000424.4(KRT5):c.596A>T (p.Lys199Met)	KRT5, LOC126861526 (K199M)	Single nucleotide variant (missense variant)	Epidermolysis bullosa	GPathogenic
Select item 66280	NM_000424.4(KRT5):c.596A>G (p.Lys199Arg)	KRT5, LOC126861526 (K199R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66279	NM_000424.4(KRT5):c.596A>C (p.Lys199Thr)	KRT5, LOC126861526 (K199T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66278	NM_000424.4(KRT5):c.594C>T (p.Thr198=)	KRT5, LOC126861526	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 66277	NM_000424.4(KRT5):c.594C>A (p.Thr198=)	KRT5, LOC126861526	Single nucleotide variant (synonymous variant)	Dowling-Degos disease 1 +10 more	GBenign
Select item 66276	NM_000424.4(KRT5):c.593C>G (p.Thr198Ser)	KRT5, LOC126861526 (T198S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66275	NM_000424.4(KRT5):c.591C>A (p.Asp197Glu)	KRT5, LOC126861526 (D197E)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +2 more	GBenign
Select item 66274	NM_000424.4(KRT5):c.579C>T (p.Asn193=)	KRT5, LOC126861526	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 66273	NM_000424.4(KRT5):c.579C>A (p.Asn193Lys)	LOC126861526, KRT5 (N193K)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 1A, generalized severe	GLikely pathogenic
Select item 66272	NM_000424.4(KRT5):c.572A>C (p.Gln191Pro)	KRT5, LOC126861526 (Q191P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66271	NM_000424.4(KRT5):c.570G>C (p.Glu190Asp)	KRT5, LOC126861526 (E190D)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66270	NM_000424.4(KRT5):c.568G>A (p.Glu190Lys)	KRT5, LOC126861526 (E190K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66269	NM_000424.4(KRT5):c.560G>C (p.Arg187Pro)	KRT5, LOC126861526 (R187P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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)	not provided +1 more	GPathogenic
Select item 66266	NM_000424.4(KRT5):c.556-1G>T	KRT5, LOC126861526	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 66265	NM_000424.4(KRT5):c.556-1G>C	KRT5, LOC126861526	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 66263	NM_000424.4(KRT5):c.549C>G (p.Ile183Met)	KRT5 (I183M)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66262	NM_000424.4(KRT5):c.548T>C (p.Ile183Thr)	KRT5 (I183T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66261	NM_000424.4(KRT5):c.547_549del (p.Ile183del)	KRT5 (I183del)	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 66260	NM_000424.4(KRT5):c.547A>T (p.Ile183Phe)	KRT5 (I183F)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66259	NM_000424.4(KRT5):c.547A>G (p.Ile183Val)	KRT5 (I183V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66258	NM_000424.4(KRT5):c.539C>A (p.Ala180Asp)	KRT5 (A180D)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66256	NM_000424.4(KRT5):c.536T>C (p.Phe179Ser)	KRT5 (F179S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66255	NM_000424.4(KRT5):c.531_533del (p.Asn177del)	KRT5 (N177del)	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 66252	NM_000424.4(KRT5):c.514A>G (p.Ile172Val)	KRT5 (I172V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66251	NM_000424.4(KRT5):c.513G>A (p.Gln171=)	KRT5	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 66250	NM_000424.4(KRT5):c.509A>G (p.Glu170Gly)	KRT5 (E170G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66249	NM_000424.4(KRT5):c.506G>C (p.Arg169Pro)	KRT5 (R169P)	Single nucleotide variant (missense variant)	not provided	Gnot provided

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