KRT2[gene] - 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	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVR1B, ACVRL1 +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 369021	NM_000423.2(KRT2):c.*466A>C	KRT2	Single nucleotide variant	Ichthyosis bullosa of Siemens	GLikely benign
Select item 309582	NM_000423.3(KRT2):c.*447C>T	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 882264	NM_000423.3(KRT2):c.*438A>G	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 309583	NM_000423.3(KRT2):c.*411C>T	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 309584	NM_000423.3(KRT2):c.*354C>T	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 882527	NM_000423.3(KRT2):c.*346A>T	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 309585	NM_000423.3(KRT2):c.*335A>G	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 882528	NM_000423.3(KRT2):c.*324C>T	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 882529	NM_000423.3(KRT2):c.*322G>C	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 882530	NM_000423.3(KRT2):c.*302T>C	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 309586	NM_000423.3(KRT2):c.*301G>A	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 309587	NM_000423.3(KRT2):c.*300T>C	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 309588	NM_000423.3(KRT2):c.*289C>A	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 309589	NM_000423.3(KRT2):c.*279T>C	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 883312	NM_000423.3(KRT2):c.*263C>T	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 309590	NM_000423.3(KRT2):c.*248C>T	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 309591	NM_000423.3(KRT2):c.*216G>A	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GLikely benign
Select item 309592	NM_000423.3(KRT2):c.*215C>T	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 883313	NM_000423.3(KRT2):c.*125T>G	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 309593	NM_000423.3(KRT2):c.*42T>C	KRT2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 1313192	NM_000423.3(KRT2):c.1912T>C (p.Phe638Leu)	KRT2 (F638L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109730	NM_000423.3(KRT2):c.1905C>A (p.Thr635=)	KRT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2140125	NM_000423.3(KRT2):c.1900G>A (p.Val634Met)	KRT2 (V634M)	Single nucleotide variant (missense variant)	not provided +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 309594	NM_000423.3(KRT2):c.1869G>T (p.Lys623Asn)	KRT2 (K623N)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 309595	NM_000423.3(KRT2):c.1829G>T (p.Gly610Val)	KRT2 (G610V)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 2958633	NM_000423.3(KRT2):c.1817C>T (p.Ser606Phe)	KRT2 (S606F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1310264	NM_000423.3(KRT2):c.1813G>C (p.Gly605Arg)	KRT2 (G605R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 309596	NM_000423.3(KRT2):c.1720G>A (p.Gly574Arg)	KRT2 (G574R)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GLikely benign
Select item 309597	NM_000423.3(KRT2):c.1719C>T (p.Tyr573=)	KRT2	Single nucleotide variant (synonymous variant)	Ichthyosis bullosa of Siemens	GLikely benign
Select item 880953	NM_000423.3(KRT2):c.1699G>A (p.Gly567Ser)	KRT2 (G567S)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 880954	NM_000423.3(KRT2):c.1698C>T (p.Gly566=)	KRT2	Single nucleotide variant (synonymous variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 1305981	NM_000423.3(KRT2):c.1694C>T (p.Ser565Phe)	KRT2 (S565F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 309598	NM_000423.3(KRT2):c.1650C>T (p.Gly550=)	KRT2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 795940	NM_000423.3(KRT2):c.1630C>T (p.Arg544Ter)	KRT2 (R544*)	Single nucleotide variant (nonsense)	not specified +1 more	GConflicting classifications of pathogenicity
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 3116361	NM_000423.3(KRT2):c.1567G>T (p.Gly523Cys)	KRT2 (G523C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 309599	NM_000423.3(KRT2):c.1550C>G (p.Ala517Gly)	KRT2 (A517G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 309600	NM_000423.3(KRT2):c.1500T>C (p.Thr500=)	KRT2	Single nucleotide variant (synonymous variant)	Ichthyosis bullosa of Siemens +1 more	GBenign
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 1261369	NM_000423.3(KRT2):c.1470-184G>A	KRT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275963	NM_000423.3(KRT2):c.1469+265A>T	KRT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226120	NM_000423.3(KRT2):c.1469+113A>G	KRT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 66192	NM_000423.3(KRT2):c.1462G>A (p.Glu488Lys)	KRT2 (E488K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 9309	NM_000423.3(KRT2):c.1461G>T (p.Glu487Asp)	KRT2 (E487D)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GPathogenic
Select item 9310	NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys)	KRT2 (E487K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 66191	NM_000423.3(KRT2):c.1451T>C (p.Leu484Pro)	KRT2 (L484P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66190	NM_000423.3(KRT2):c.1448T>A (p.Leu483Gln)	KRT2 (L483Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 9312	NM_000423.3(KRT2):c.1435A>C (p.Thr479Pro)	KRT2 (T479P)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GPathogenic
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 1700990	NM_000423.3(KRT2):c.1430T>A (p.Ile477Asn)	KRT2 (I477N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 66189	NM_000423.3(KRT2):c.1427A>T (p.Glu476Val)	KRT2 (E476V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 9314	NM_000423.3(KRT2):c.1426G>A (p.Glu476Lys)	KRT2 (E476K)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GPathogenic
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 309602	NM_000423.3(KRT2):c.1373G>A (p.Arg458Gln)	KRT2 (R458Q)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GLikely benign
Select item 309603	NM_000423.3(KRT2):c.1355C>G (p.Ala452Gly)	KRT2 (A452G)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 2663521	NM_000423.3(KRT2):c.1325T>G (p.Leu442Trp)	KRT2 (L442W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 309604	NM_000423.3(KRT2):c.1289G>A (p.Arg430His)	KRT2 (R430H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 309605	NM_000423.3(KRT2):c.1281C>T (p.Ala427=)	KRT2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 3057953	NM_000423.3(KRT2):c.1274C>G (p.Ala425Gly)	KRT2 (A425G)	Single nucleotide variant (missense variant)	KRT2-related disorder	GLikely benign
Select item 309606	NM_000423.3(KRT2):c.1272C>T (p.Ile424=)	KRT2	Single nucleotide variant (synonymous variant)	KRT2-related disorder +1 more	GBenign/Likely benign
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 882313	NM_000423.3(KRT2):c.1249-4A>G	KRT2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 309607	NM_000423.3(KRT2):c.1249-7G>T	KRT2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1257174	NM_000423.3(KRT2):c.1248+22C>T	KRT2	Single nucleotide variant (intron variant)	not provided	GBenign
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 3039482	NM_000423.3(KRT2):c.1218G>T (p.Leu406=)	KRT2	Single nucleotide variant (synonymous variant)	KRT2-related disorder	GLikely benign
Select item 309608	NM_000423.3(KRT2):c.1204G>A (p.Val402Met)	KRT2 (V402M)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GLikely benign
Select item 309609	NM_000423.3(KRT2):c.1203C>T (p.Arg401=)	KRT2	Single nucleotide variant (synonymous variant)	KRT2-related disorder +1 more	GBenign/Likely benign
Select item 882579	NM_000423.3(KRT2):c.1147G>A (p.Gly383Arg)	KRT2 (G383R)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 2060908	NM_000423.3(KRT2):c.1146C>T (p.Val382=)	KRT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1588394	NM_000423.3(KRT2):c.1122+16G>A	KRT2	Single nucleotide variant (intron variant)	not provided	GBenign
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 2966450	NM_000423.3(KRT2):c.1102G>A (p.Glu368Lys)	KRT2 (E368K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2713699	NM_000423.3(KRT2):c.1101G>A (p.Ala367=)	KRT2	Single nucleotide variant (synonymous variant)	KRT2-related disorder +1 more	GBenign/Likely benign
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 1311765	NM_000423.3(KRT2):c.1066T>C (p.Tyr356His)	KRT2 (Y356H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 309610	NM_000423.3(KRT2):c.1051G>A (p.Glu351Lys)	KRT2 (E351K)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GUncertain significance
Select item 2881946	NM_000423.3(KRT2):c.976C>G (p.Gln326Glu)	KRT2 (Q326E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1274846	NM_000423.3(KRT2):c.958-316G>T	KRT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1616754	NM_000423.3(KRT2):c.957+16C>T	KRT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 309611	NM_000423.3(KRT2):c.940A>G (p.Lys314Glu)	KRT2 (K314E)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GBenign
Select item 3251228	NM_000423.3(KRT2):c.874G>A (p.Ala292Thr)	KRT2 (A292T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2178437	NM_000423.3(KRT2):c.865G>A (p.Val289Met)	KRT2 (V289M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 309612	NM_000423.3(KRT2):c.864C>T (p.Asp288=)	KRT2	Single nucleotide variant (synonymous variant)	KRT2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1261684	NM_000423.3(KRT2):c.861+62C>A	KRT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221809	NM_000423.3(KRT2):c.861+62C>T	KRT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 309613	NM_000423.3(KRT2):c.861+6C>G	KRT2	Single nucleotide variant (intron variant)	Ichthyosis bullosa of Siemens	GBenign
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 882580	NM_000423.3(KRT2):c.823C>G (p.Arg275Gly)	KRT2 (R275G)	Single nucleotide variant (missense variant)	Ichthyosis bullosa of Siemens	GBenign

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