ClinVar for Gene (Select 121391) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3116648	NM_175053.4(KRT74):c.941T>C (p.Val314Ala)	KRT74 (V314A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116647	NM_175053.4(KRT74):c.727G>A (p.Glu243Lys)	KRT74 (E243K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116646	NM_175053.4(KRT74):c.710G>A (p.Arg237His)	KRT74 (R237H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116645	NM_175053.4(KRT74):c.694G>T (p.Val232Leu)	KRT74 (V232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116643	NM_175053.4(KRT74):c.596G>A (p.Arg199Gln)	KRT74 (R199Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116642	NM_175053.4(KRT74):c.58T>C (p.Ser20Pro)	KRT74 (S20P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116641	NM_175053.4(KRT74):c.314C>T (p.Ser105Phe)	KRT74 (S105F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116640	NM_175053.4(KRT74):c.260G>A (p.Ser87Asn)	KRT74 (S87N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116639	NM_175053.4(KRT74):c.1522G>A (p.Gly508Arg)	KRT74 (G508R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116638	NM_175053.4(KRT74):c.1417T>C (p.Tyr473His)	KRT74 (Y473H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116637	NM_175053.4(KRT74):c.1409G>T (p.Ser470Ile)	KRT74 (S470I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116636	NM_175053.4(KRT74):c.1268G>A (p.Arg423His)	KRT74 (R423H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116635	NM_175053.4(KRT74):c.1182C>A (p.Asp394Glu)	KRT74 (D394E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058228	NM_175053.4(KRT74):c.1534G>A (p.Asp512Asn)	KRT74 (D512N)	Single nucleotide variant (missense variant)	KRT74-related condition	GUncertain significance
Select item 3058034	NM_175053.4(KRT74):c.1179A>C (p.Gly393=)	KRT74	Single nucleotide variant (synonymous variant)	KRT74-related condition	GLikely benign
Select item 3046321	NM_175053.4(KRT74):c.1470C>T (p.Gly490=)	KRT74	Single nucleotide variant (synonymous variant)	KRT74-related condition	GLikely benign
Select item 3041164	NM_175053.4(KRT74):c.770T>A (p.Val257Asp)	KRT74 (V257D)	Single nucleotide variant (missense variant)	KRT74-related condition	GLikely benign
Select item 3020747	NM_175053.4(KRT74):c.1293G>A (p.Leu431=)	KRT74	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969893	NM_175053.4(KRT74):c.662A>T (p.Asp221Val)	KRT74 (D221V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2957412	NM_175053.4(KRT74):c.29G>A (p.Ser10Asn)	KRT74 (S10N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956559	NM_175053.4(KRT74):c.1523del (p.Gly508fs)	KRT74 (G508fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2896395	NM_175053.4(KRT74):c.853C>T (p.Gln285Ter)	KRT74 (Q285*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2889027	NM_175053.4(KRT74):c.546C>A (p.Asn182Lys)	KRT74 (N182K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884516	NM_175053.4(KRT74):c.20T>G (p.Ile7Ser)	KRT74 (I7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876075	NM_175053.4(KRT74):c.243T>C (p.Tyr81=)	KRT74	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872464	NM_175053.4(KRT74):c.555G>C (p.Lys185Asn)	KRT74 (K185N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869022	NM_175053.4(KRT74):c.56A>T (p.His19Leu)	KRT74 (H19L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2837978	NM_175053.4(KRT74):c.1390+18A>G	KRT74	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2744188	NM_175053.4(KRT74):c.475C>T (p.Arg159Cys)	KRT74 (R159C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2731560	NM_175053.4(KRT74):c.410G>A (p.Arg137His)	KRT74 (R137H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717545	NM_175053.4(KRT74):c.1227C>T (p.Gly409=)	KRT74	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2716280	NM_175053.4(KRT74):c.323C>T (p.Pro108Leu)	KRT74 (P108L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2716154	NM_175053.4(KRT74):c.1117G>C (p.Gly373Arg)	KRT74 (G373R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2713725	NM_175053.4(KRT74):c.1136G>A (p.Arg379His)	KRT74 (R379H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2696342	NM_175053.4(KRT74):c.1088G>A (p.Arg363Gln)	KRT74 (R363Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643031	NM_175053.4(KRT74):c.192T>C (p.Ala64=)	KRT74	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643030	NM_175053.4(KRT74):c.421C>A (p.Arg141=)	KRT74	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622974	NM_175053.4(KRT74):c.94G>T (p.Ala32Ser)	KRT74 (A32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610086	NM_175053.4(KRT74):c.188T>G (p.Val63Gly)	KRT74 (V63G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605014	NM_175053.4(KRT74):c.833T>C (p.Leu278Pro)	KRT74 (L278P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594780	NM_175053.4(KRT74):c.1358T>C (p.Met453Thr)	KRT74 (M453T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590710	NM_175053.4(KRT74):c.1037G>A (p.Arg346Gln)	KRT74 (R346Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2493014	NM_175053.4(KRT74):c.508A>G (p.Thr170Ala)	KRT74 (T170A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476466	NM_175053.4(KRT74):c.641C>T (p.Ser214Leu)	KRT74 (S214L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2471839	NM_175053.4(KRT74):c.1174C>T (p.Arg392Trp)	KRT74 (R392W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409237	NM_175053.4(KRT74):c.1085A>G (p.Asn362Ser)	KRT74 (N362S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404734	NM_175053.4(KRT74):c.963C>G (p.Ile321Met)	KRT74 (I321M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396100	NM_175053.4(KRT74):c.1087C>T (p.Arg363Trp)	KRT74 (R363W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2391707	NM_175053.4(KRT74):c.557A>T (p.Asn186Ile)	KRT74 (N186I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385685	NM_175053.4(KRT74):c.1361C>G (p.Ser454Cys)	KRT74 (S454C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374144	NM_175053.4(KRT74):c.1272G>C (p.Glu424Asp)	KRT74 (E424D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364487	NM_175053.4(KRT74):c.1048G>C (p.Asp350His)	KRT74 (D350H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361019	NM_175053.4(KRT74):c.1036C>T (p.Arg346Trp)	KRT74 (R346W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348992	NM_175053.4(KRT74):c.842C>A (p.Ala281Glu)	KRT74 (A281E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338162	NM_175053.4(KRT74):c.908G>A (p.Arg303Gln)	KRT74 (R303Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330957	NM_175053.4(KRT74):c.1205C>T (p.Ala402Val)	KRT74 (A402V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330647	NM_175053.4(KRT74):c.422G>A (p.Arg141Gln)	KRT74 (R141Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318731	NM_175053.4(KRT74):c.1194G>T (p.Lys398Asn)	KRT74 (K398N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292220	NM_175053.4(KRT74):c.639C>A (p.Asp213Glu)	KRT74 (D213E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289315	NM_175053.4(KRT74):c.1235A>G (p.His412Arg)	KRT74 (H412R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271745	NM_175053.4(KRT74):c.55C>T (p.His19Tyr)	KRT74 (H19Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261676	NM_175053.4(KRT74):c.709C>T (p.Arg237Cys)	KRT74 (R237C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261173	NM_175053.4(KRT74):c.761C>A (p.Ala254Asp)	KRT74 (A254D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257328	NM_175053.4(KRT74):c.454G>A (p.Ala152Thr)	KRT74 (A152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249923	NM_175053.4(KRT74):c.628G>A (p.Val210Met)	KRT74 (V210M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243457	NM_175053.4(KRT74):c.905A>C (p.Asn302Thr)	KRT74 (N302T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241910	NM_175053.4(KRT74):c.172C>G (p.Arg58Gly)	KRT74 (R58G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232811	NM_175053.4(KRT74):c.7C>T (p.Arg3Trp)	KRT74 (R3W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231220	NM_175053.4(KRT74):c.1558G>A (p.Ala520Thr)	KRT74 (A520T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221987	NM_175053.4(KRT74):c.803T>C (p.Leu268Pro)	KRT74 (L268P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220786	NM_175053.4(KRT74):c.868G>A (p.Ala290Thr)	KRT74 (A290T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2172738	NM_175053.4(KRT74):c.205C>T (p.Arg69Trp)	KRT74 (R69W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2171372	NM_175053.4(KRT74):c.279G>A (p.Met93Ile)	KRT74 (M93I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162061	NM_175053.4(KRT74):c.1228G>A (p.Ala410Thr)	KRT74 (A410T)	Single nucleotide variant (missense variant)	Autosomal dominant wooly hair +1 more	GUncertain significance
Select item 2139690	NM_175053.4(KRT74):c.1277A>G (p.Gln426Arg)	KRT74 (Q426R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101474	NM_175053.4(KRT74):c.1356-18T>C	KRT74	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2083259	NM_175053.4(KRT74):c.1164C>T (p.Asp388=)	KRT74	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082082	NM_175053.4(KRT74):c.1134G>A (p.Gln378=)	KRT74	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2071150	NM_175053.4(KRT74):c.1210C>T (p.Leu404=)	KRT74	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2070576	NM_175053.4(KRT74):c.127G>A (p.Ala43Thr)	KRT74 (A43T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2047552	NM_175053.4(KRT74):c.1491C>T (p.Ser497=)	KRT74	Single nucleotide variant (synonymous variant)	KRT74-related condition +1 more	GBenign/Likely benign
Select item 2039430	NM_175053.4(KRT74):c.1141A>G (p.Ser381Gly)	KRT74 (S381G)	Single nucleotide variant (missense variant)	KRT74-related condition +1 more	GBenign
Select item 2039129	NM_175053.4(KRT74):c.1264C>A (p.Leu422Met)	KRT74 (L422M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2037472	NM_175053.4(KRT74):c.1328G>A (p.Arg443His)	KRT74 (R443H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1990117	NM_175053.4(KRT74):c.1553C>A (p.Thr518Asn)	KRT74 (T518N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988272	NM_175053.4(KRT74):c.1391-18T>C	KRT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1956242	NM_175053.4(KRT74):c.471+4G>A	KRT74	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1946624	NM_175053.4(KRT74):c.755A>G (p.Asp252Gly)	KRT74 (D252G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929065	NM_175053.4(KRT74):c.1105C>T (p.Arg369Trp)	KRT74 (R369W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922890	NM_175053.4(KRT74):c.461T>A (p.Phe154Tyr)	KRT74 (F154Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1808850	GRCh37/hg19 12q13.13(chr12:52914324-53250644)x3	KRT1, KRT2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1655951	NM_175053.4(KRT74):c.1459G>A (p.Ala487Thr)	KRT74 (A487T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1594104	NM_175053.4(KRT74):c.813A>C (p.Glu271Asp)	KRT74 (E271D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1561423	NM_175053.4(KRT74):c.555G>A (p.Lys185=)	KRT74	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1295082	NM_175053.4(KRT74):c.1356-233C>T	KRT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290299	NM_175053.4(KRT74):c.687-89A>C	KRT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289755	NM_175053.4(KRT74):c.495C>G (p.Asn165Lys)	KRT74 (N165K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1289735	NM_175053.4(KRT74):c.445G>A (p.Asp149Asn)	KRT74 (D149N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1289575	NM_175053.4(KRT74):c.1009-118A>G	KRT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286437	NM_175053.4(KRT74):c.687-175A>G	KRT74	Single nucleotide variant (intron variant)	not provided	GBenign

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