ClinVar for Gene (Select 3852) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367111	NM_000424.4(KRT5):c.1409A>G (p.Tyr470Cys)	KRT5, LOC126861525 (Y470C)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 2B, generalized intermediate	GLikely pathogenic
Select item 3361125	NM_000424.4(KRT5):c.545T>C (p.Phe182Ser)	KRT5 (F182S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3356637	NM_000424.4(KRT5):c.831+5G>A	KRT5	Single nucleotide variant (intron variant)	KRT5-related disorder	GUncertain significance
Select item 3351327	NM_000424.4(KRT5):c.663G>A (p.Gln221=)	KRT5, LOC126861526	Single nucleotide variant (synonymous variant)	KRT5-related disorder	GLikely benign
Select item 3348617	NM_000424.4(KRT5):c.1474+5G>A	KRT5	Single nucleotide variant (intron variant)	KRT5-related disorder	GUncertain significance
Select item 3289474	NM_000424.4(KRT5):c.1216C>A (p.Gln406Lys)	KRT5, LOC126861525 (Q406K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289473	NM_000424.4(KRT5):c.710G>A (p.Arg237Gln)	KRT5, LOC126861526 (R237Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116556	NM_000424.4(KRT5):c.71C>G (p.Thr24Ser)	KRT5 (T24S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116555	NM_000424.4(KRT5):c.658G>A (p.Glu220Lys)	KRT5, LOC126861526 (E220K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116554	NM_000424.4(KRT5):c.643C>G (p.Leu215Val)	KRT5, LOC126861526 (L215V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116553	NM_000424.4(KRT5):c.505C>A (p.Arg169Ser)	KRT5 (R169S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116552	NM_000424.4(KRT5):c.382G>A (p.Gly128Ser)	KRT5 (G128S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116551	NM_000424.4(KRT5):c.176G>T (p.Gly59Val)	KRT5 (G59V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116550	NM_000424.4(KRT5):c.131G>T (p.Gly44Val)	KRT5 (G44V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042791	NM_000424.4(KRT5):c.556-25A>G	KRT5, LOC126861526	Single nucleotide variant (intron variant)	KRT5-related disorder	GLikely benign
Select item 3031060	NM_000424.4(KRT5):c.1754G>A (p.Arg585Gln)	KRT5 (R585Q)	Single nucleotide variant (missense variant)	KRT5-related disorder	GUncertain significance
Select item 3022715	NM_000424.4(KRT5):c.1551C>T (p.Gly517=)	KRT5	Single nucleotide variant (synonymous variant)	not provided	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 3006413	NM_000424.4(KRT5):c.1612G>A (p.Gly538Arg)	KRT5 (G538R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992129	NM_000424.4(KRT5):c.902A>T (p.Asn301Ile)	KRT5 (N301I)	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 2966449	NM_000424.4(KRT5):c.1561G>T (p.Gly521Cys)	KRT5 (G521C)	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 2885424	NM_000424.4(KRT5):c.136T>A (p.Phe46Ile)	KRT5 (F46I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2825784	NM_000424.4(KRT5):c.464T>A (p.Leu155Gln)	KRT5 (L155Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2814428	NM_000424.4(KRT5):c.205G>C (p.Gly69Arg)	KRT5 (G69R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2809499	NM_000424.4(KRT5):c.134del (p.Gly45fs)	KRT5 (G45fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2796941	NM_000424.4(KRT5):c.1580G>A (p.Gly527Asp)	KRT5 (G527D)	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 2719999	NM_000424.4(KRT5):c.1576G>A (p.Gly526Arg)	KRT5 (G526R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2631461	NM_000424.4(KRT5):c.434T>G (p.Val145Gly)	KRT5 (V145G)	Single nucleotide variant (missense variant)	KRT5-related disorder	GLikely pathogenic
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 2581743	NM_000424.4(KRT5):c.528C>A (p.Asn176Lys)	KRT5 (N176K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2579672	NM_000424.4(KRT5):c.508G>T (p.Glu170Ter)	KRT5 (E170*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive	GLikely pathogenic
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 2474224	NM_000424.4(KRT5):c.923A>G (p.Asp308Gly)	KRT5 (D308G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468927	NM_000424.4(KRT5):c.58G>A (p.Ala20Thr)	KRT5 (A20T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2433270	NM_000424.4(KRT5):c.539CCT[1] (p.Ser181del)	KRT5 (S181del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
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)	not provided +1 more	GUncertain significance
Select item 2372305	NM_000424.4(KRT5):c.358G>A (p.Gly120Arg)	KRT5 (G120R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2365162	NM_000424.4(KRT5):c.124G>A (p.Gly42Ser)	KRT5 (G42S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345990	NM_000424.4(KRT5):c.43C>T (p.Arg15Cys)	KRT5 (R15C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339366	NM_000424.4(KRT5):c.1605C>A (p.Ser535Arg)	KRT5 (S535R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326821	NM_000424.4(KRT5):c.1727A>G (p.Lys576Arg)	KRT5 (K576R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323668	NM_000424.4(KRT5):c.1718C>T (p.Ser573Phe)	KRT5 (S573F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2289476	NM_000424.4(KRT5):c.158G>A (p.Gly53Asp)	KRT5 (G53D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287975	NM_000424.4(KRT5):c.950A>T (p.His317Leu)	KRT5 (H317L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276686	NM_000424.4(KRT5):c.1006G>A (p.Asp336Asn)	KRT5 (D336N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246587	NM_000424.4(KRT5):c.409C>G (p.Pro137Ala)	KRT5 (P137A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235871	NM_000424.4(KRT5):c.184A>G (p.Ser62Gly)	KRT5 (S62G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224774	NM_000424.4(KRT5):c.257G>A (p.Arg86Gln)	KRT5 (R86Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212591	NM_000424.4(KRT5):c.1753C>T (p.Arg585Trp)	KRT5 (R585W)	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 2189895	NM_000424.4(KRT5):c.506G>A (p.Arg169His)	KRT5 (R169H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2170224	NM_000424.4(KRT5):c.1607G>A (p.Ser536Asn)	KRT5 (S536N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2167476	NM_000424.4(KRT5):c.256C>T (p.Arg86Trp)	KRT5 (R86W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2148787	NM_000424.4(KRT5):c.1620C>T (p.Val540=)	KRT5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2137373	NM_000424.4(KRT5):c.597G>C (p.Lys199Asn)	KRT5, LOC126861526 (K199N)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2086891	NM_000424.4(KRT5):c.1440-10C>G	KRT5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2085594	NM_000424.4(KRT5):c.1474+2dup	KRT5	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2084100	NM_000424.4(KRT5):c.1615G>A (p.Gly539Ser)	KRT5 (G539S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2083309	NM_000424.4(KRT5):c.947C>T (p.Thr316Met)	KRT5 (T316M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078668	NM_000424.4(KRT5):c.1550_1573del (p.509GGGL[2])	KRT5	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2067058	NM_000424.4(KRT5):c.160G>A (p.Ala54Thr)	KRT5 (A54T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2028735	NM_000424.4(KRT5):c.1474+1G>T	KRT5	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2002492	NM_000424.4(KRT5):c.503A>T (p.Glu168Val)	KRT5 (E168V)	Single nucleotide variant (missense variant)	not provided	GLikely 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 1900463	NM_000424.4(KRT5):c.301G>A (p.Ala101Thr)	KRT5 (A101T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1809928	NM_000424.4(KRT5):c.109C>T (p.Arg37Trp)	KRT5 (R37W)	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 1704353	NM_000424.4(KRT5):c.504G>C (p.Glu168Asp)	KRT5 (E168D)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 2B, generalized intermediate	GUncertain significance
Select item 1704289	NM_000424.4(KRT5):c.967G>A (p.Val323Met)	KRT5 (V323M)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 2B, generalized intermediate	GLikely pathogenic
Select item 1699839	NM_000424.4(KRT5):c.43C>G (p.Arg15Gly)	KRT5 (R15G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1601811	NM_000424.4(KRT5):c.86G>A (p.Arg29His)	KRT5 (R29H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 1502324	NM_000424.4(KRT5):c.548T>G (p.Ile183Ser)	KRT5 (I183S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1380735	NM_000424.4(KRT5):c.424G>A (p.Glu142Lys)	KRT5 (E142K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359443	NM_000424.4(KRT5):c.1061G>C (p.Arg354Pro)	KRT5 (R354P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1350303	NM_000424.4(KRT5):c.1682dup (p.Val563fs)	KRT5 (V563fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1339350	NM_000424.4(KRT5):c.1650del (p.Ser551fs)	KRT5 (S551fs)	Deletion (frameshift variant)	Epidermolysis bullosa simplex with migratory circinate erythema	GPathogenic
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 1339348	NM_000424.4(KRT5):c.1638_1641del (p.Ser547fs)	KRT5 (S547fs)	Deletion (frameshift variant)	Epidermolysis bullosa simplex with migratory circinate erythema	GPathogenic
Select item 1333429	NM_000424.4(KRT5):c.529A>T (p.Asn177Tyr)	KRT5 (N177Y)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex 1A, generalized severe	GLikely pathogenic
Select item 1314293	NM_000424.4(KRT5):c.322G>A (p.Gly108Ser)	KRT5 (G108S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302023	NM_000424.4(KRT5):c.1440-1G>A	KRT5	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1302022	NM_000424.4(KRT5):c.472G>A (p.Asp158Asn)	KRT5 (D158N)	Single nucleotide variant (missense variant)	EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE	GPathogenic

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