KRT4[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	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVRL1, ANKRD33 +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 149659	GRCh38/hg38 12q13.13(chr12:52748391-52950618)x3	KRT18, KRT3 +15 more	Copy number gain	See cases	GLikely benign
Select item 881137	NM_002272.4(KRT4):c.*496T>G	KRT4	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 1	GUncertain significance
Select item 309658	NM_002272.4(KRT4):c.*405G>A	KRT4	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 1	GUncertain significance
Select item 309659	NM_002272.4(KRT4):c.*289G>A	KRT4	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 1	GUncertain significance
Select item 66516	NM_002272.4(KRT4):c.*269A>G	KRT4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 309660	NM_002272.4(KRT4):c.*267G>A	KRT4	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 1	GBenign
Select item 309661	NM_002272.4(KRT4):c.*133C>T	KRT4	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 1	GBenign
Select item 309662	NM_002272.4(KRT4):c.*126C>A	KRT4	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 1	GUncertain significance
Select item 309663	NM_002272.4(KRT4):c.*81T>A	KRT4	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 1	GBenign
Select item 309664	NM_002272.4(KRT4):c.*68C>T	KRT4	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 1	GBenign
Select item 309665	NM_002272.4(KRT4):c.*30T>A	KRT4	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 1	GBenign
Select item 2313366	NM_002272.4(KRT4):c.1541C>T (p.Thr514Ile)	KRT4 (T514I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543273	NM_002272.4(KRT4):c.1531A>G (p.Ile511Val)	KRT4 (I511V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 309666	NM_002272.4(KRT4):c.1512C>A (p.Gly504=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GBenign
Select item 309667	NM_002272.4(KRT4):c.1495G>C (p.Gly499Arg)	KRT4 (G499R)	Single nucleotide variant (missense variant)	White sponge nevus 1 +1 more	GConflicting classifications of pathogenicity
Select item 309668	NM_002272.4(KRT4):c.1493T>C (p.Phe498Ser)	KRT4 (F498S)	Single nucleotide variant (missense variant)	White sponge nevus 1 +1 more	GConflicting classifications of pathogenicity
Select item 881603	NM_002272.4(KRT4):c.1467C>A (p.Gly489=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GUncertain significance
Select item 882761	NM_002272.4(KRT4):c.1441G>A (p.Gly481Arg)	KRT4 (G481R)	Single nucleotide variant (missense variant)	White sponge nevus 1	GUncertain significance
Select item 309669	NM_002272.4(KRT4):c.1419C>T (p.Ser473=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GBenign
Select item 882762	NM_002272.4(KRT4):c.1417A>T (p.Ser473Cys)	KRT4 (S473C)	Single nucleotide variant (missense variant)	White sponge nevus 1	GUncertain significance
Select item 882763	NM_002272.4(KRT4):c.1386G>A (p.Val462=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GLikely benign
Select item 309670	NM_002272.4(KRT4):c.1381+15C>T	KRT4	Single nucleotide variant (intron variant)	White sponge nevus 1 +1 more	GBenign
Select item 882764	NM_002272.4(KRT4):c.1347-3C>T	KRT4	Single nucleotide variant (intron variant)	White sponge nevus 1	GUncertain significance
Select item 882765	NM_002272.4(KRT4):c.1346+15A>T	KRT4	Single nucleotide variant (intron variant)	White sponge nevus 1	GLikely benign
Select item 309671	NM_002272.4(KRT4):c.1346+15A>G	KRT4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 778637	NM_002272.4(KRT4):c.1318C>T (p.Arg440Cys)	KRT4 (R440C)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2298786	NM_002272.4(KRT4):c.1308C>G (p.Ile436Met)	KRT4 (I436M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 16920	NM_002272.4(KRT4):c.1303G>A (p.Glu435Lys)	KRT4 (E435K)	Single nucleotide variant (missense variant)	White sponge nevus 1	GPathogenic
Select item 2536009	NM_002272.4(KRT4):c.1265A>G (p.Tyr422Cys)	KRT4 (Y422C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 309672	NM_002272.4(KRT4):c.1259G>A (p.Arg420His)	KRT4 (R420H)	Single nucleotide variant (missense variant)	White sponge nevus 1	GBenign
Select item 883553	NM_002272.4(KRT4):c.1258C>T (p.Arg420Cys)	KRT4 (R420C)	Single nucleotide variant (missense variant)	White sponge nevus 1	GBenign
Select item 883554	NM_002272.4(KRT4):c.1204G>A (p.Val402Ile)	KRT4 (V402I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 309673	NM_002272.4(KRT4):c.1203C>T (p.Arg401=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GBenign
Select item 309674	NM_002272.4(KRT4):c.1192C>T (p.His398Tyr)	KRT4 (H398Y)	Single nucleotide variant (missense variant)	White sponge nevus 1	GLikely benign
Select item 2603570	NM_002272.4(KRT4):c.1176T>G (p.Asn392Lys)	KRT4 (N392K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 309675	NM_002272.4(KRT4):c.1147G>A (p.Val383Met)	KRT4 (V383M)	Single nucleotide variant (missense variant)	White sponge nevus 1	GLikely benign
Select item 1246289	NM_002272.4(KRT4):c.1126-32G>A	KRT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 309676	NM_002272.4(KRT4):c.1080G>A (p.Arg360=)	KRT4	Single nucleotide variant (synonymous variant)	KRT4-related condition +1 more	GBenign
Select item 881185	NM_002272.4(KRT4):c.1072C>G (p.Leu358Val)	KRT4 (L358V)	Single nucleotide variant (missense variant)	White sponge nevus 1	GUncertain significance
Select item 2271355	NM_002272.4(KRT4):c.1062A>C (p.Glu354Asp)	KRT4 (E354D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312434	NM_002272.4(KRT4):c.1056G>C (p.Lys352Asn)	KRT4 (K352N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 309677	NM_002272.4(KRT4):c.1020G>C (p.Ser340=)	KRT4	Single nucleotide variant (synonymous variant)	KRT4-related condition +2 more	GBenign
Select item 1290336	NM_002272.4(KRT4):c.999+90A>G	KRT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 881186	NM_002272.4(KRT4):c.983C>T (p.Ala328Val)	KRT4 (A328V)	Single nucleotide variant (missense variant)	White sponge nevus 1	GBenign
Select item 881187	NM_002272.4(KRT4):c.954T>C (p.Ile318=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GLikely benign
Select item 309678	NM_002272.4(KRT4):c.945C>T (p.Tyr315=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GLikely benign
Select item 2209455	NM_002272.4(KRT4):c.896A>G (p.Asn299Ser)	KRT4 (N299S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 309679	NM_002272.4(KRT4):c.873C>T (p.Ser291=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1 +1 more	GBenign/Likely benign
Select item 309680	NM_002272.4(KRT4):c.870G>A (p.Thr290=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GBenign
Select item 309681	NM_002272.4(KRT4):c.835-4G>T	KRT4	Single nucleotide variant (intron variant)	White sponge nevus 1	GBenign
Select item 1264187	NM_002272.4(KRT4):c.835-225C>T	KRT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 631683	NM_002272.4(KRT4):c.834+2T>G	KRT4	Single nucleotide variant (splice donor variant)	White sponge nevus 1	GUncertain significance
Select item 2455800	NM_002272.4(KRT4):c.833C>A (p.Ala278Glu)	KRT4 (A278E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1150080	NM_002272.4(KRT4):c.801C>A (p.Asp267Glu)	KRT4 (D267E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 881649	NM_002272.4(KRT4):c.801C>T (p.Asp267=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GLikely benign
Select item 309682	NM_002272.4(KRT4):c.766G>A (p.Val256Met)	KRT4 (V256M)	Single nucleotide variant (missense variant)	White sponge nevus 1 +1 more	GConflicting classifications of pathogenicity
Select item 309683	NM_002272.4(KRT4):c.741C>G (p.Asp247Glu)	KRT4 (D247E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1275627	NM_002272.4(KRT4):c.739-214A>G	KRT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247167	NM_002272.4(KRT4):c.738+213T>C	KRT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179600	NM_002272.4(KRT4):c.738+16T>G	KRT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2333174	NM_002272.4(KRT4):c.731T>C (p.Leu244Pro)	KRT4 (L244P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 309684	NM_002272.4(KRT4):c.726G>A (p.Val242=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GUncertain significance
Select item 3033342	NM_002272.4(KRT4):c.720C>T (p.Asp240=)	KRT4	Single nucleotide variant (synonymous variant)	KRT4-related condition	GLikely benign
Select item 2488672	NM_002272.4(KRT4):c.704C>T (p.Thr235Ile)	KRT4 (T235I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 309685	NM_002272.4(KRT4):c.678-3C>T	KRT4	Single nucleotide variant (intron variant)	White sponge nevus 1 +1 more	GBenign
Select item 309686	NM_002272.4(KRT4):c.678-10C>T	KRT4	Single nucleotide variant (intron variant)	White sponge nevus 1	GUncertain significance
Select item 309687	NM_002272.4(KRT4):c.678-14G>A	KRT4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1231227	NM_002272.4(KRT4):c.678-157A>G	KRT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251178	NM_002272.4(KRT4):c.677+104G>A	KRT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 309688	NM_002272.4(KRT4):c.677+4C>T	KRT4	Single nucleotide variant (intron variant)	White sponge nevus 1	GUncertain significance
Select item 66517	NM_002272.4(KRT4):c.638_639insACA (p.Leu213_Lys214insGln)	KRT4	Insertion (inframe_insertion)	not provided	Gnot provided
Select item 309689	NM_002272.4(KRT4):c.623G>A (p.Arg208His)	KRT4 (R208H)	Single nucleotide variant (missense variant)	KRT4-related condition +1 more	GBenign
Select item 309690	NM_002272.4(KRT4):c.558C>G (p.Pro186=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GBenign
Select item 309691	NM_002272.4(KRT4):c.548A>G (p.Asn183Ser)	KRT4 (N183S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 309692	NM_002272.4(KRT4):c.527C>T (p.Thr176Met)	KRT4 (T176M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 309693	NM_002272.4(KRT4):c.513G>A (p.Leu171=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GLikely benign
Select item 2460575	NM_002272.4(KRT4):c.499A>G (p.Thr167Ala)	KRT4 (T167A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 309694	NM_002272.4(KRT4):c.475G>A (p.Glu159Lys)	KRT4 (E159K)	Single nucleotide variant (missense variant)	White sponge nevus 1	GBenign
Select item 309695	NM_002272.4(KRT4):c.467A>G (p.Gln156Arg)	KRT4 (Q156R)	Single nucleotide variant (missense variant)	KRT4-related condition +2 more	GBenign
Select item 309696	NM_002272.4(KRT4):c.466C>T (p.Gln156Ter)	KRT4 (Q156*)	Single nucleotide variant (nonsense)	White sponge nevus 1	GLikely benign
Select item 309697	NM_002272.4(KRT4):c.463-9T>C	KRT4	Single nucleotide variant (intron variant)	White sponge nevus 1	GUncertain significance
Select item 1267686	NM_002272.4(KRT4):c.463-278C>T	KRT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287977	NM_002272.4(KRT4):c.462+60G>A	KRT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 309698	NM_002272.4(KRT4):c.457G>A (p.Asp153Asn)	KRT4 (D153N)	Single nucleotide variant (missense variant)	White sponge nevus 1	GUncertain significance
Select item 309699	NM_002272.4(KRT4):c.456C>T (p.Ile152=)	KRT4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 16918	NM_002272.4(KRT4):c.432CAA[2] (p.Asn146del)	KRT4 (N146del)	Microsatellite (inframe_deletion)	White sponge nevus 1	GPathogenic
Select item 16919	NM_002272.4(KRT4):c.419_420insCAA (p.Gln140delinsHisLys)	KRT4	Insertion (inframe_indel)	White sponge nevus 1	GPathogenic
Select item 309700	NM_002272.4(KRT4):c.405G>A (p.Thr135=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GUncertain significance
Select item 309701	NM_002272.4(KRT4):c.404C>T (p.Thr135Met)	KRT4 (T135M)	Single nucleotide variant (missense variant)	White sponge nevus 1 +1 more	GBenign
Select item 2220070	NM_002272.4(KRT4):c.377T>C (p.Ile126Thr)	KRT4 (I126T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 309702	NM_002272.4(KRT4):c.364C>G (p.Leu122Val)	KRT4 (L122V)	Single nucleotide variant (missense variant)	White sponge nevus 1 +1 more	GUncertain significance
Select item 883597	NM_002272.4(KRT4):c.361C>A (p.Pro121Thr)	KRT4 (P121T)	Single nucleotide variant (missense variant)	White sponge nevus 1 +1 more	GConflicting classifications of pathogenicity
Select item 881235	NM_002272.4(KRT4):c.359C>A (p.Thr120Asn)	KRT4 (T120N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 309703	NM_002272.4(KRT4):c.353T>G (p.Leu118Trp)	KRT4 (L118W)	Single nucleotide variant (missense variant)	White sponge nevus 1	GUncertain significance
Select item 2483961	NM_002272.4(KRT4):c.344A>T (p.Asn115Ile)	KRT4 (N115I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 881236	NM_002272.4(KRT4):c.317C>G (p.Ala106Gly)	KRT4 (A106G)	Single nucleotide variant (missense variant)	White sponge nevus 1	GUncertain significance
Select item 2217368	NM_002272.4(KRT4):c.307G>A (p.Val103Ile)	KRT4 (V103I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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