121391[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 2231220	NM_175053.4(KRT74):c.1558G>A (p.Ala520Thr)	KRT74 (A520T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3058228	NM_175053.4(KRT74):c.1534G>A (p.Asp512Asn)	KRT74 (D512N)	Single nucleotide variant (missense variant)	KRT74-related disorder	GUncertain significance
Select item 2956559	NM_175053.4(KRT74):c.1523del (p.Gly508fs)	KRT74 (G508fs)	Deletion (frameshift variant)	not provided	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 727421	NM_175053.4(KRT74):c.1520G>T (p.Gly507Val)	KRT74 (G507V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 712119	NM_175053.4(KRT74):c.1515G>T (p.Ala505=)	KRT74	Single nucleotide variant (synonymous variant)	KRT74-related disorder +1 more	GBenign/Likely benign
Select item 1099347	NM_175053.4(KRT74):c.1514C>T (p.Ala505Val)	KRT74 (A505V)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 1247065	NM_175053.4(KRT74):c.1507A>G (p.Thr503Ala)	KRT74 (T503A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3289515	NM_175053.4(KRT74):c.1491C>A (p.Ser497Arg)	KRT74 (S497R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2047552	NM_175053.4(KRT74):c.1491C>T (p.Ser497=)	KRT74	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3046321	NM_175053.4(KRT74):c.1470C>T (p.Gly490=)	KRT74	Single nucleotide variant (synonymous variant)	KRT74-related disorder	GLikely benign
Select item 1655951	NM_175053.4(KRT74):c.1459G>A (p.Ala487Thr)	KRT74 (A487T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 30719	NM_175053.4(KRT74):c.1444G>A (p.Asp482Asn)	KRT74 (D482N)	Single nucleotide variant (missense variant)	Hypotrichosis 3	GPathogenic
Select item 729449	NM_175053.4(KRT74):c.1426C>T (p.Pro476Ser)	KRT74 (P476S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 66968	NM_175053.4(KRT74):c.1391-1G>A	KRT74	Single nucleotide variant (splice acceptor variant)	Autosomal dominant wooly hair	GPathogenic
Select item 1988272	NM_175053.4(KRT74):c.1391-18T>C	KRT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243772	NM_175053.4(KRT74):c.1391-201G>T	KRT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265618	NM_175053.4(KRT74):c.1391-202T>C	KRT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242399	NM_175053.4(KRT74):c.1390+226G>C	KRT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273296	NM_175053.4(KRT74):c.1390+138T>A	KRT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238205	NM_175053.4(KRT74):c.1390+125G>A	KRT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2837978	NM_175053.4(KRT74):c.1390+18A>G	KRT74	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 731241	NM_175053.4(KRT74):c.1390+9T>A	KRT74	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2594780	NM_175053.4(KRT74):c.1358T>C (p.Met453Thr)	KRT74 (M453T)	Single nucleotide variant (missense variant)	not specified	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 1295082	NM_175053.4(KRT74):c.1356-233C>T	KRT74	Single nucleotide variant (intron 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 3020747	NM_175053.4(KRT74):c.1293G>A (p.Leu431=)	KRT74	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2374144	NM_175053.4(KRT74):c.1272G>C (p.Glu424Asp)	KRT74 (E424D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790658	NM_175053.4(KRT74):c.1270G>A (p.Glu424Lys)	KRT74 (E424K)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2039129	NM_175053.4(KRT74):c.1264C>A (p.Leu422Met)	KRT74 (L422M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 736692	NM_175053.4(KRT74):c.1264C>T (p.Leu422=)	KRT74	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770985	NM_175053.4(KRT74):c.1258C>T (p.Arg420Trp)	KRT74 (R420W)	Single nucleotide variant (missense variant)	KRT74-related disorder +1 more	GLikely benign
Select item 781072	NM_175053.4(KRT74):c.1257G>A (p.Ala419=)	KRT74	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 2717545	NM_175053.4(KRT74):c.1227C>T (p.Gly409=)	KRT74	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2071150	NM_175053.4(KRT74):c.1210C>T (p.Leu404=)	KRT74	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2318731	NM_175053.4(KRT74):c.1194G>T (p.Lys398Asn)	KRT74 (K398N)	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 3058034	NM_175053.4(KRT74):c.1179A>C (p.Gly393=)	KRT74	Single nucleotide variant (synonymous variant)	KRT74-related disorder	GLikely benign
Select item 718092	NM_175053.4(KRT74):c.1175G>A (p.Arg392Gln)	KRT74 (R392Q)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1048841	NM_175053.4(KRT74):c.1165G>A (p.Ala389Thr)	KRT74 (A389T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083259	NM_175053.4(KRT74):c.1164C>T (p.Asp388=)	KRT74	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729059	NM_175053.4(KRT74):c.1151C>T (p.Thr384Met)	KRT74 (T384M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2039430	NM_175053.4(KRT74):c.1141A>G (p.Ser381Gly)	KRT74 (S381G)	Single nucleotide variant (missense variant)	not provided +1 more	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 1174188	NM_175053.4(KRT74):c.1135-346G>T	KRT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2082082	NM_175053.4(KRT74):c.1134G>A (p.Gln378=)	KRT74	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2716154	NM_175053.4(KRT74):c.1117G>C (p.Gly373Arg)	KRT74 (G373R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 743365	NM_175053.4(KRT74):c.1116C>T (p.Ile372=)	KRT74	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2696342	NM_175053.4(KRT74):c.1088G>A (p.Arg363Gln)	KRT74 (R363Q)	Single nucleotide variant (missense variant)	not provided	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 2409237	NM_175053.4(KRT74):c.1085A>G (p.Asn362Ser)	KRT74 (N362S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1103024	NM_175053.4(KRT74):c.1075G>A (p.Val359Met)	KRT74 (V359M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 2361019	NM_175053.4(KRT74):c.1036C>T (p.Arg346Trp)	KRT74 (R346W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1264948	NM_175053.4(KRT74):c.1009-11T>C	KRT74	Single nucleotide variant (intron 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 1251323	NM_175053.4(KRT74):c.1009-175_1009-174insC	KRT74	Insertion (intron variant)	not provided	GBenign
Select item 1270768	NM_175053.4(KRT74):c.1008+262G>T	KRT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263892	NM_175053.4(KRT74):c.1008+110G>T	KRT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279153	NM_175053.4(KRT74):c.1008+51G>T	KRT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239349	NM_175053.4(KRT74):c.1008+43C>T	KRT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231679	NM_175053.4(KRT74):c.1008+36T>C	KRT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 726165	NM_175053.4(KRT74):c.996G>A (p.Leu332=)	KRT74	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3116648	NM_175053.4(KRT74):c.941T>C (p.Val314Ala)	KRT74 (V314A)	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 2243457	NM_175053.4(KRT74):c.905A>C (p.Asn302Thr)	KRT74 (N302T)	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 2896395	NM_175053.4(KRT74):c.853C>T (p.Gln285Ter)	KRT74 (Q285*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 741571	NM_175053.4(KRT74):c.850G>A (p.Ala284Thr)	KRT74 (A284T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1250491	NM_175053.4(KRT74):c.844-89T>C	KRT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221182	NM_175053.4(KRT74):c.844-101C>T	KRT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282120	NM_175053.4(KRT74):c.843+219G>A	KRT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282581	NM_175053.4(KRT74):c.843+209A>C	KRT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275494	NM_175053.4(KRT74):c.843+165G>A	KRT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281160	NM_175053.4(KRT74):c.843+162T>C	KRT74	Single nucleotide variant (intron variant)	not provided	GBenign
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 2605014	NM_175053.4(KRT74):c.833T>C (p.Leu278Pro)	KRT74 (L278P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 96741	NM_175053.4(KRT74):c.821T>C (p.Phe274Ser)	KRT74 (F274S)	Single nucleotide variant (missense variant)	KRT74-related disorder +1 more	GBenign/Likely benign
Select item 1594104	NM_175053.4(KRT74):c.813A>C (p.Glu271Asp)	KRT74 (E271D)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3041164	NM_175053.4(KRT74):c.770T>A (p.Val257Asp)	KRT74 (V257D)	Single nucleotide variant (missense variant)	KRT74-related disorder	GLikely benign
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 1946624	NM_175053.4(KRT74):c.755A>G (p.Asp252Gly)	KRT74 (D252G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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