3852[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +206 more	Copy number loss	See cases	GPathogenic
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 880775	NM_000424.4(KRT5):c.*334A>G	KRT5	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 309547	NM_000424.4(KRT5):c.*323T>C	KRT5	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex	GBenign
Select item 309548	NM_000424.4(KRT5):c.*320T>A	KRT5	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 882167	NM_000424.4(KRT5):c.*271C>T	KRT5	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 309549	NM_000424.4(KRT5):c.*263T>C	KRT5	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex	GBenign
Select item 309550	NM_000424.4(KRT5):c.*253C>T	KRT5	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex +1 more	GBenign
Select item 882168	NM_000424.4(KRT5):c.*232T>C	KRT5	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 309551	NM_000424.4(KRT5):c.*185G>A	KRT5	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex +1 more	GBenign
Select item 309552	NM_000424.4(KRT5):c.*134A>G	KRT5	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 309553	NM_000424.4(KRT5):c.*59C>T	KRT5	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex	GUncertain significance
Select item 66229	NM_000424.4(KRT5):c.1755G>A (p.Arg585=)	KRT5	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
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 2212591	NM_000424.4(KRT5):c.1753C>T (p.Arg585Trp)	KRT5 (R585W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 309554	NM_000424.4(KRT5):c.1736C>A (p.Ser579Tyr)	KRT5 (S579Y)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GLikely benign
Select item 66228	NM_000424.4(KRT5):c.1730T>A (p.Phe577Tyr)	KRT5 (F577Y)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 309555	NM_000424.4(KRT5):c.1705G>A (p.Gly569Arg)	KRT5 (G569R)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +1 more	GBenign
Select item 66227	NM_000424.4(KRT5):c.1692C>A (p.Gly564=)	KRT5	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 1350303	NM_000424.4(KRT5):c.1682dup (p.Val563fs)	KRT5 (V563fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 737820	NM_000424.4(KRT5):c.1677A>T (p.Arg559=)	KRT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 882418	NM_000424.4(KRT5):c.1676G>A (p.Arg559Gln)	KRT5 (R559Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 265219	NM_000424.4(KRT5):c.1675C>T (p.Arg559Ter)	KRT5 (R559*)	Single nucleotide variant (nonsense)	KRT5-related disorder +1 more	GConflicting classifications of pathogenicity
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 14655	NM_000424.4(KRT5):c.1649del (p.Gly550fs)	KRT5 (G550fs)	Deletion (frameshift variant)	not provided +1 more	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 66226	NM_000424.4(KRT5):c.1636C>A (p.Leu546Ile)	KRT5 (L546I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 66225	NM_000424.4(KRT5):c.1635del (p.Leu546fs)	KRT5 (L546fs)	Deletion (frameshift variant)	Epidermolysis bullosa simplex 2C, localized	GPathogenic
Select item 66224	NM_000424.4(KRT5):c.1627G>A (p.Gly543Ser)	KRT5 (G543S)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex +2 more	GBenign
Select item 882419	NM_000424.4(KRT5):c.1621G>A (p.Gly541Ser)	KRT5 (G541S)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	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 1119040	NM_000424.4(KRT5):c.1616G>A (p.Gly539Asp)	KRT5 (G539D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 3006413	NM_000424.4(KRT5):c.1612G>A (p.Gly538Arg)	KRT5 (G538R)	Single nucleotide variant (missense variant)	not provided	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 2339366	NM_000424.4(KRT5):c.1605C>A (p.Ser535Arg)	KRT5 (S535R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 754214	NM_000424.4(KRT5):c.1602C>T (p.Ser534=)	KRT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 66223	NM_000424.4(KRT5):c.1582A>G (p.Ser528Gly)	KRT5 (S528G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
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 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 309556	NM_000424.4(KRT5):c.1575C>T (p.Ala525=)	KRT5	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex	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 2966449	NM_000424.4(KRT5):c.1561G>T (p.Gly521Cys)	KRT5 (G521C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 748581	NM_000424.4(KRT5):c.1561G>A (p.Gly521Ser)	KRT5 (G521S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 309557	NM_000424.4(KRT5):c.1555G>A (p.Gly519Ser)	KRT5 (G519S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 309558	NM_000424.4(KRT5):c.1554C>A (p.Gly518=)	KRT5	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 3022715	NM_000424.4(KRT5):c.1551C>T (p.Gly517=)	KRT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 66222	NM_000424.4(KRT5):c.1550G>A (p.Gly517Asp)	KRT5 (G517D)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 711340	NM_000424.4(KRT5):c.1536C>T (p.Leu512=)	KRT5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 884124	NM_000424.4(KRT5):c.1495T>C (p.Ser499Pro)	KRT5 (S499P)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex	GLikely benign
Select item 309559	NM_000424.4(KRT5):c.1475-6C>T	KRT5	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex +1 more	GBenign
Select item 1231502	NM_000424.4(KRT5):c.1475-37A>T	KRT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226214	NM_000424.4(KRT5):c.1474+163A>G	KRT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3348617	NM_000424.4(KRT5):c.1474+5G>A	KRT5	Single nucleotide variant (intron variant)	KRT5-related disorder	GUncertain significance
Select item 66221	NM_000424.4(KRT5):c.1474+4A>G	KRT5	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2085594	NM_000424.4(KRT5):c.1474+2dup	KRT5	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 380490	NM_000424.4(KRT5):c.1474+3A>C	KRT5	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2028735	NM_000424.4(KRT5):c.1474+1G>T	KRT5	Single nucleotide variant (splice donor 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 738551	NM_000424.4(KRT5):c.1440-6T>C	KRT5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2086891	NM_000424.4(KRT5):c.1440-10C>G	KRT5	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 2919082	NM_000424.4(KRT5):c.1439+6T>C	KRT5, LOC126861525	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1194325	NM_000424.4(KRT5):c.1438A>T (p.Arg480Ter)	KRT5, LOC126861525 (R480*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2847577	NM_000424.4(KRT5):c.1437C>A (p.Cys479Ter)	KRT5, LOC126861525 (C479*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 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 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 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)	Epidermolysis bullosa simplex 1A, generalized severe +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
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 1468538	NM_000424.4(KRT5):c.1421T>C (p.Leu474Pro)	KRT5, LOC126861525 (L474P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 66213	NM_000424.4(KRT5):c.1411C>T (p.Arg471Cys)	KRT5, LOC126861525 (R471C)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 816993	NM_000424.4(KRT5):c.1409dup (p.Tyr470Ter)	KRT5, LOC126861525 (Y470*)	Duplication (nonsense)	not provided	GPathogenic
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 1800552	NM_000424.4(KRT5):c.1408T>C (p.Tyr470His)	KRT5, LOC126861525 (Y470H)	Single nucleotide variant (missense variant)	not provided	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 66212	NM_000424.4(KRT5):c.1405A>C (p.Thr469Pro)	KRT5, LOC126861525 (T469P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 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 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 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 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 2412999	NM_000424.4(KRT5):c.1392C>A (p.Asp464Glu)	KRT5, LOC126861525 (D464E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 14639	NM_000424.4(KRT5):c.1388T>C (p.Leu463Pro)	KRT5, LOC126861525 (L463P)	Single nucleotide variant (missense variant)	not provided +1 more	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 66207	NM_000424.4(KRT5):c.1362_1365delinsAGCTGGTA (p.Glu455fs)	KRT5, LOC126861525 (E455fs)	Indel (frameshift variant)	not provided	Gnot provided
Select item 620350	NM_000424.4(KRT5):c.1363G>T (p.Glu455Ter)	KRT5, LOC126861525 (E455*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 450862	NM_000424.4(KRT5):c.1352G>A (p.Arg451His)	KRT5, LOC126861525 (R451H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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