KIF21A[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 308526	NM_001173464.2(KIF21A):c.*1157A>T	KIF21A	Single nucleotide variant (3 prime UTR variant)	Congenital fibrosis of extraocular muscles type 1	GUncertain significance
Select item 308527	NM_001173464.2(KIF21A):c.*1022A>T	KIF21A	Single nucleotide variant (3 prime UTR variant)	Congenital fibrosis of extraocular muscles type 1	GUncertain significance
Select item 308528	NM_001173464.2(KIF21A):c.*1010T>C	KIF21A	Single nucleotide variant (3 prime UTR variant)	Congenital fibrosis of extraocular muscles type 1	GUncertain significance
Select item 308529	NM_001173464.2(KIF21A):c.*935A>G	KIF21A	Single nucleotide variant (3 prime UTR variant)	Congenital fibrosis of extraocular muscles type 1	GUncertain significance
Select item 308530	NM_001173464.2(KIF21A):c.*845dup	KIF21A	Duplication (3 prime UTR variant)	Congenital fibrosis of extraocular muscles	GUncertain significance
Select item 308531	NM_001173464.2(KIF21A):c.*812T>C	KIF21A	Single nucleotide variant (3 prime UTR variant)	Congenital fibrosis of extraocular muscles type 1	GBenign
Select item 308532	NM_001173464.2(KIF21A):c.*707A>G	KIF21A	Single nucleotide variant (3 prime UTR variant)	Congenital fibrosis of extraocular muscles type 1	GBenign
Select item 308533	NM_001173464.2(KIF21A):c.*690dup	KIF21A	Duplication (3 prime UTR variant)	Congenital fibrosis of extraocular muscles	GUncertain significance
Select item 308535	NM_001173464.2(KIF21A):c.*690T>C	KIF21A	Single nucleotide variant (3 prime UTR variant)	Congenital fibrosis of extraocular muscles type 1	GUncertain significance
Select item 308534	NM_001173464.2(KIF21A):c.*690del	KIF21A	Deletion (3 prime UTR variant)	Congenital fibrosis of extraocular muscles	GBenign
Select item 308536	NM_001173464.2(KIF21A):c.*645T>G	KIF21A	Single nucleotide variant (3 prime UTR variant)	Congenital fibrosis of extraocular muscles type 1	GBenign
Select item 883358	NM_001173464.2(KIF21A):c.*582G>A	KIF21A	Single nucleotide variant (3 prime UTR variant)	Congenital fibrosis of extraocular muscles type 1	GUncertain significance
Select item 883359	NM_001173464.2(KIF21A):c.*531T>C	KIF21A	Single nucleotide variant (3 prime UTR variant)	Congenital fibrosis of extraocular muscles type 1	GUncertain significance
Select item 308537	NM_001173464.2(KIF21A):c.*472A>G	KIF21A	Single nucleotide variant (3 prime UTR variant)	Congenital fibrosis of extraocular muscles type 1	GBenign
Select item 308538	NM_001173464.2(KIF21A):c.*451A>G	KIF21A	Single nucleotide variant (3 prime UTR variant)	Congenital fibrosis of extraocular muscles type 1	GUncertain significance
Select item 308539	NM_001173464.2(KIF21A):c.*447A>G	KIF21A	Single nucleotide variant (3 prime UTR variant)	Congenital fibrosis of extraocular muscles type 1	GBenign
Select item 308540	NM_001173464.2(KIF21A):c.*418A>G	KIF21A	Single nucleotide variant (3 prime UTR variant)	Congenital fibrosis of extraocular muscles type 1	GBenign
Select item 880992	NM_001173464.2(KIF21A):c.*366C>T	KIF21A	Single nucleotide variant (3 prime UTR variant)	Congenital fibrosis of extraocular muscles type 1	GUncertain significance
Select item 308541	NM_001173464.2(KIF21A):c.*326T>A	KIF21A	Single nucleotide variant (3 prime UTR variant)	Congenital fibrosis of extraocular muscles type 1	GUncertain significance
Select item 308542	NM_001173464.2(KIF21A):c.*237A>G	KIF21A	Single nucleotide variant (3 prime UTR variant)	Congenital fibrosis of extraocular muscles type 1	GBenign
Select item 308543	NM_001173464.2(KIF21A):c.*211C>G	KIF21A	Single nucleotide variant (3 prime UTR variant)	Congenital fibrosis of extraocular muscles type 1	GUncertain significance
Select item 880993	NM_001173464.2(KIF21A):c.*71C>G	KIF21A	Single nucleotide variant (3 prime UTR variant)	Congenital fibrosis of extraocular muscles type 1	GLikely benign
Select item 880994	NM_001173464.2(KIF21A):c.*65G>A	KIF21A	Single nucleotide variant (3 prime UTR variant)	Congenital fibrosis of extraocular muscles type 1	GUncertain significance
Select item 3114641	NM_001173464.2(KIF21A):c.4961G>A (p.Arg1654His)	KIF21A (R1642H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 308544	NM_001173464.2(KIF21A):c.4961G>T (p.Arg1654Leu)	KIF21A (R1641L +3 more)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles type 1	GUncertain significance
Select item 2547853	NM_001173464.2(KIF21A):c.4894A>G (p.Ile1632Val)	KIF21A (I1579V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 308545	NM_001173464.2(KIF21A):c.4891G>A (p.Ala1631Thr)	KIF21A (A1631T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 882353	NM_001173464.2(KIF21A):c.4814G>A (p.Gly1605Glu)	KIF21A (G1593E +6 more)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles type 1	GUncertain significance
Select item 308546	NM_001173464.2(KIF21A):c.4768C>T (p.Leu1590=)	KIF21A	Single nucleotide variant (synonymous variant)	Congenital fibrosis of extraocular muscles type 1	GBenign
Select item 730042	NM_001173464.2(KIF21A):c.4656A>G (p.Gln1552=)	KIF21A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1710001	NM_001173464.2(KIF21A):c.4602_4606del (p.Thr1535fs)	KIF21A (T1482fs +6 more)	Deletion (frameshift variant)	Congenital fibrosis of extraocular muscles type 1	GUncertain significance
Select item 308547	NM_001173464.2(KIF21A):c.4562T>G (p.Met1521Arg)	KIF21A (M1521R +3 more)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles type 1	GBenign
Select item 308548	NM_001173464.2(KIF21A):c.4542C>G (p.Ser1514=)	KIF21A	Single nucleotide variant (synonymous variant)	KIF21A-related condition +2 more	GBenign
Select item 308549	NM_001173464.2(KIF21A):c.4536T>C (p.Thr1512=)	KIF21A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 308550	NM_001173464.2(KIF21A):c.4528A>C (p.Ile1510Leu)	KIF21A (I1497L +3 more)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles type 1	GUncertain significance
Select item 720608	NM_001173464.2(KIF21A):c.4515T>G (p.Ser1505Arg)	KIF21A (S1452R +3 more)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles type 1 +2 more	GBenign/Likely benign
Select item 2326776	NM_001173464.2(KIF21A):c.4511C>A (p.Ser1504Tyr)	KIF21A (S1491Y +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 740652	NM_001173464.2(KIF21A):c.4494T>C (p.Leu1498=)	KIF21A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 308551	NM_001173464.2(KIF21A):c.4471C>T (p.His1491Tyr)	KIF21A (H1478Y +3 more)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles type 1	GUncertain significance
Select item 2628417	NM_001173464.2(KIF21A):c.4428G>A (p.Met1476Ile)	KIF21A (M1423I +6 more)	Single nucleotide variant (missense variant)	KIF21A-related condition	GUncertain significance
Select item 721456	NM_001173464.2(KIF21A):c.4388G>A (p.Gly1463Asp)	KIF21A (G1450D +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3042366	NM_001173464.2(KIF21A):c.4377A>C (p.Leu1459=)	KIF21A	Single nucleotide variant (synonymous variant)	KIF21A-related condition	GLikely benign
Select item 2464137	NM_001173464.2(KIF21A):c.4373C>T (p.Ala1458Val)	KIF21A (A1421V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464136	NM_001173464.2(KIF21A):c.4372G>T (p.Ala1458Ser)	KIF21A (A1445S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496178	NM_001173464.2(KIF21A):c.4310G>T (p.Cys1437Phe)	KIF21A (C1384F +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 744316	NM_001173464.2(KIF21A):c.4278-10A>T	KIF21A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 308552	NM_001173464.2(KIF21A):c.4277C>T (p.Thr1426Met)	KIF21A (T1426M +3 more)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles type 1	GLikely benign
Select item 882624	NM_001173464.2(KIF21A):c.4268G>A (p.Arg1423Gln)	KIF21A (R1419Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 308553	NM_001173464.2(KIF21A):c.4264A>G (p.Ile1422Val)	KIF21A (I1409V +3 more)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles type 1	GUncertain significance
Select item 2218426	NM_001173464.2(KIF21A):c.4262G>A (p.Cys1421Tyr)	KIF21A (C1422Y +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114640	NM_001173464.2(KIF21A):c.4171G>A (p.Val1391Met)	KIF21A (V1354M +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236370	NM_001173464.2(KIF21A):c.4045G>C (p.Ala1349Pro)	KIF21A (A1337P +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 308554	NM_001173464.2(KIF21A):c.4044A>G (p.Lys1348=)	KIF21A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3114639	NM_001173464.2(KIF21A):c.4020T>G (p.Ile1340Met)	KIF21A (I1328M +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1303854	NM_001173464.2(KIF21A):c.4009C>A (p.Leu1337Ile)	KIF21A (L1284I +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319737	NM_001173464.2(KIF21A):c.3968T>C (p.Ile1323Thr)	KIF21A (I1270T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 882625	NM_001173464.2(KIF21A):c.3960-11C>T	KIF21A	Single nucleotide variant (intron variant)	Congenital fibrosis of extraocular muscles type 1	GBenign
Select item 308555	NM_001173464.2(KIF21A):c.3959G>A (p.Arg1320Lys)	KIF21A (R1307K +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital fibrosis of extraocular muscles type 1	GBenign/Likely benign
Select item 2353859	NM_001173464.2(KIF21A):c.3950C>T (p.Ser1317Phe)	KIF21A (S1304F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600249	NM_001173464.2(KIF21A):c.3935C>T (p.Ser1312Leu)	KIF21A (S1299L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 882626	NM_001173464.2(KIF21A):c.3915T>C (p.Asp1305=)	KIF21A	Single nucleotide variant (synonymous variant +1 more)	Congenital fibrosis of extraocular muscles type 1	GUncertain significance
Select item 632188	NM_001173464.2(KIF21A):c.3887dup (p.Asn1296fs)	KIF21A (N1260fs +3 more)	Duplication (frameshift variant)	Congenital fibrosis of extraocular muscles type 1	GUncertain significance
Select item 632189	NM_001173464.2(KIF21A):c.3877_3878insTTAAT (p.Ser1293fs)	KIF21A (S1280fs +3 more)	Insertion (frameshift variant)	Congenital fibrosis of extraocular muscles type 1	GUncertain significance
Select item 308556	NM_001173464.2(KIF21A):c.3872C>A (p.Thr1291Asn)	KIF21A (T1291N +3 more)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles type 1	GUncertain significance
Select item 728378	NM_001173464.2(KIF21A):c.3854A>C (p.Asn1285Thr)	KIF21A (N1265T +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 883400	NM_001173464.2(KIF21A):c.3842G>A (p.Arg1281His)	KIF21A (R1268H +3 more)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles type 1	GBenign
Select item 3054721	NM_001173464.2(KIF21A):c.3836G>A (p.Arg1279Gln)	KIF21A (R1243Q +3 more)	Single nucleotide variant (missense variant)	KIF21A-related condition	GLikely benign
Select item 2573463	NM_001173464.2(KIF21A):c.3779+16T>A	KIF21A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3058581	NM_001173464.2(KIF21A):c.3779+8A>G	KIF21A	Single nucleotide variant (intron variant)	KIF21A-related condition	GLikely benign
Select item 3114638	NM_001173464.2(KIF21A):c.3734A>G (p.Lys1245Arg)	KIF21A (K1225R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114637	NM_001173464.2(KIF21A):c.3718C>T (p.Pro1240Ser)	KIF21A (P1220S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 308557	NM_001173464.2(KIF21A):c.3711G>T (p.Glu1237Asp)	KIF21A (E1224D +3 more)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles type 1	GBenign
Select item 3114636	NM_001173464.2(KIF21A):c.3652C>A (p.Pro1218Thr)	KIF21A (P1182T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 308558	NM_001173464.2(KIF21A):c.3641C>G (p.Pro1214Arg)	KIF21A (P1214R +3 more)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles type 1 +2 more	GBenign/Likely benign
Select item 883401	NM_001173464.2(KIF21A):c.3554C>T (p.Pro1185Leu)	KIF21A (P1185L +3 more)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles type 1	GUncertain significance
Select item 2402907	NM_001173464.2(KIF21A):c.3538G>A (p.Ala1180Thr)	KIF21A (A1144T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387792	NM_001173464.2(KIF21A):c.3537T>G (p.Asp1179Glu)	KIF21A (D1159E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 799524	NM_001173464.2(KIF21A):c.3492G>A (p.Leu1164=)	KIF21A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2511482	NM_001173464.2(KIF21A):c.3476C>G (p.Thr1159Ser)	KIF21A (T1146S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114635	NM_001173464.2(KIF21A):c.3461G>A (p.Arg1154Gln)	KIF21A (R1141Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114634	NM_001173464.2(KIF21A):c.3410C>G (p.Ser1137Cys)	KIF21A (S1124C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544500	NM_001173464.2(KIF21A):c.3373C>T (p.Pro1125Ser)	KIF21A (P1089S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 736856	NM_001173464.2(KIF21A):c.3349G>C (p.Glu1117Gln)	KIF21A (E1104Q +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 308559	NM_001173464.2(KIF21A):c.3341-11dup	KIF21A	Duplication (intron variant)	KIF21A-related condition +1 more	GBenign/Likely benign
Select item 308560	NM_001173464.2(KIF21A):c.3332T>C (p.Val1111Ala)	KIF21A (V1098A +2 more)	Single nucleotide variant (missense variant +1 more)	KIF21A-related condition +2 more	GBenign/Likely benign
Select item 308561	NM_001173464.2(KIF21A):c.3320-4A>T	KIF21A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3067291	NM_001173464.2(KIF21A):c.3306_3319+1dup	KIF21A	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2344016	NM_001173464.2(KIF21A):c.3301C>A (p.Leu1101Ile)	KIF21A (L1065I +2 more)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2614321	NM_001173464.2(KIF21A):c.3203G>A (p.Arg1068Gln)	KIF21A (R1032Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546585	NM_001173464.2(KIF21A):c.3164C>T (p.Ala1055Val)	KIF21A (A1019V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468967	NM_001173464.2(KIF21A):c.3164C>G (p.Ala1055Gly)	KIF21A (A1019G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560210	NM_001173464.2(KIF21A):c.3162G>T (p.Gln1054His)	KIF21A (Q1018H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 308562	NM_001173464.2(KIF21A):c.3149A>G (p.Asn1050Ser)	KIF21A (N1037S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 308563	NM_001173464.2(KIF21A):c.3118C>T (p.Leu1040=)	KIF21A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 308564	NM_001173464.2(KIF21A):c.3111C>T (p.Ala1037=)	KIF21A	Single nucleotide variant (synonymous variant)	Congenital fibrosis of extraocular muscles type 1	GBenign
Select item 881049	NM_001173464.2(KIF21A):c.3082G>A (p.Val1028Ile)	KIF21A (V992I +2 more)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles type 1	GUncertain significance
Select item 2278100	NM_001173464.2(KIF21A):c.3055G>A (p.Glu1019Lys)	KIF21A (E1006K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2438	NM_001173464.2(KIF21A):c.3029T>C (p.Ile1010Thr)	KIF21A (I1010T +2 more)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles type 1	GPathogenic
Select item 3114632	NM_001173464.2(KIF21A):c.2918A>G (p.Lys973Arg)	KIF21A (K960R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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