29442[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC120893174, LOC122149340 +166 more	Copy number loss	See cases	GPathogenic
Select item 2466682	NM_001252102.2(KIF21B):c.4815-536G>A	KIF21B (R1619H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547184	NM_001252102.2(KIF21B):c.4815-546A>G	KIF21B (I1616V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114661	NM_001252102.2(KIF21B):c.4697C>T (p.Ala1566Val)	KIF21B (A1553V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3254547	NM_001252102.2(KIF21B):c.4670_4671insT (p.Met1559fs)	KIF21B (M1546fs +1 more)	Insertion (frameshift variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2354397	NM_001252102.2(KIF21B):c.4664C>T (p.Pro1555Leu)	KIF21B (P1555L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1699344	NM_001252102.2(KIF21B):c.4625A>G (p.Asn1542Ser)	KIF21B (N1529S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2574179	NM_001252102.2(KIF21B):c.4615-3C>G	KIF21B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1302458	NM_001252102.2(KIF21B):c.4615-16C>T	KIF21B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2577697	NM_001252102.2(KIF21B):c.4564C>T (p.Arg1522Ter)	KIF21B (R1509* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3288527	NM_001252102.2(KIF21B):c.4547T>G (p.Ile1516Ser)	KIF21B (I1503S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1698078	NM_001252102.2(KIF21B):c.4538A>T (p.Gln1513Leu)	KIF21B (Q1500L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577664	NM_001252102.2(KIF21B):c.4521C>G (p.Ile1507Met)	KIF21B (I1494M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2558011	NM_001252102.2(KIF21B):c.4459G>A (p.Glu1487Lys)	KIF21B (E1487K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354456	NM_001252102.2(KIF21B):c.4411G>A (p.Val1471Met)	KIF21B, LOC126805976 (V1458M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462055	NM_001252102.2(KIF21B):c.4379C>T (p.Thr1460Met)	KIF21B, LOC126805976 (T1447M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342496	NM_001252102.2(KIF21B):c.4303G>A (p.Val1435Ile)	KIF21B, LOC126805976 (V1422I +1 more)	Single nucleotide variant (missense variant)	KIF21B-related Neurodevelopmental disorder	GUncertain significance
Select item 3114660	NM_001252102.2(KIF21B):c.4285G>A (p.Ala1429Thr)	KIF21B, LOC126805976 (A1416T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288530	NM_001252102.2(KIF21B):c.4277T>C (p.Met1426Thr)	KIF21B, LOC126805976 (M1413T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704903	NM_001252102.2(KIF21B):c.4231G>A (p.Gly1411Ser)	KIF21B, LOC126805976 (G1398S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2390037	NM_001252102.2(KIF21B):c.4129C>T (p.Arg1377Trp)	KIF21B (R1377W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 680351	NM_001252102.2(KIF21B):c.4110C>T (p.Tyr1370=)	KIF21B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3035462	NM_001252102.2(KIF21B):c.4043C>T (p.Pro1348Leu)	KIF21B (P1335L +1 more)	Single nucleotide variant (missense variant)	KIF21B-related disorder	GLikely benign
Select item 3365860	NM_001252102.2(KIF21B):c.4006G>A (p.Val1336Ile)	KIF21B, LOC129932203 (V1323I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501626	NM_001252102.2(KIF21B):c.3998G>A (p.Trp1333Ter)	KIF21B, LOC129932203 (W1320* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3253410	NM_001252102.2(KIF21B):c.3994A>T (p.Met1332Leu)	KIF21B, LOC129932203 (M1319L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2404426	NM_001252102.2(KIF21B):c.3923C>A (p.Thr1308Asn)	KIF21B (T1295N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2704397	NM_001252102.2(KIF21B):c.3886G>A (p.Ala1296Thr)	KIF21B (A1296T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2545893	NM_001252102.2(KIF21B):c.3872A>G (p.Lys1291Arg)	KIF21B (K1291R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3343305	NM_001252102.2(KIF21B):c.3736C>G (p.Pro1246Ala)	KIF21B (P1246A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112730	NM_001252102.2(KIF21B):c.3719C>A (p.Ser1240Ter)	KIF21B (S1240*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2639731	NM_001252102.2(KIF21B):c.3669C>T (p.Tyr1223=)	KIF21B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2593690	NM_001252102.2(KIF21B):c.3641C>T (p.Thr1214Met)	KIF21B (T1214M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709586	NM_001252102.2(KIF21B):c.3615-4G>T	KIF21B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2527726	NM_001252102.2(KIF21B):c.3607A>T (p.Ser1203Cys)	KIF21B (S1203C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 207846	NM_001252102.2(KIF21B):c.3601C>T (p.Arg1201Trp)	KIF21B (R1201W)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2224270	NM_001252102.2(KIF21B):c.3581G>A (p.Arg1194His)	KIF21B (R1194H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611026	NM_001252102.2(KIF21B):c.3565C>G (p.Arg1189Gly)	KIF21B (R1189G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443385	NM_001252102.2(KIF21B):c.3557C>T (p.Pro1186Leu)	KIF21B (P1186L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3114657	NM_001252102.2(KIF21B):c.3551G>A (p.Arg1184Gln)	KIF21B (R1184Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639732	NM_001252102.2(KIF21B):c.3447G>A (p.Ser1149=)	KIF21B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2543409	NM_001252102.2(KIF21B):c.3442G>C (p.Val1148Leu)	KIF21B (V1148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409410	NM_001252102.2(KIF21B):c.3349A>C (p.Ser1117Arg)	KIF21B (S1117R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114656	NM_001252102.2(KIF21B):c.3241C>T (p.Arg1081Cys)	KIF21B (R1081C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204435	NM_001252102.2(KIF21B):c.3184C>G (p.Leu1062Val)	KIF21B (L1062V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288522	NM_001252102.2(KIF21B):c.3167G>A (p.Arg1056Gln)	KIF21B (R1056Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236542	NM_001252102.2(KIF21B):c.3079C>A (p.Leu1027Met)	KIF21B (L1027M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2580006	NM_001252102.2(KIF21B):c.3053C>A (p.Thr1018Lys)	KIF21B (T1018K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 797990	NM_001252102.2(KIF21B):c.3033G>A (p.Glu1011=)	KIF21B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2237631	NM_001252102.2(KIF21B):c.3010G>A (p.Val1004Met)	KIF21B (V1004M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1246671	NM_001252102.2(KIF21B):c.2994C>T (p.Asp998=)	KIF21B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2663269	NM_001252102.2(KIF21B):c.2992G>A (p.Asp998Asn)	KIF21B (D998N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 684541	NM_001252102.2(KIF21B):c.2959_2962dup (p.Asn988fs)	KIF21B (N988fs)	Duplication (frameshift variant)	not provided	Gnot provided
Select item 3114655	NM_001252102.2(KIF21B):c.2881C>G (p.Arg961Gly)	KIF21B (R961G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206227	NM_001252102.2(KIF21B):c.2881C>T (p.Arg961Trp)	KIF21B (R961W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775636	NM_001252102.2(KIF21B):c.2811G>A (p.Glu937=)	KIF21B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3114654	NM_001252102.2(KIF21B):c.2804A>G (p.Asn935Ser)	KIF21B (N935S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460295	NM_001252102.2(KIF21B):c.2765G>A (p.Arg922Gln)	KIF21B (R922Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3364246	NM_001252102.2(KIF21B):c.2748del (p.Trp916fs)	KIF21B (W916fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2530611	NM_001252102.2(KIF21B):c.2677C>T (p.Arg893Cys)	KIF21B (R893C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1722886	NM_001252102.2(KIF21B):c.2663C>T (p.Thr888Ile)	KIF21B (T888I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3114653	NM_001252102.2(KIF21B):c.2659C>T (p.Pro887Ser)	KIF21B (P887S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504485	NM_001252102.2(KIF21B):c.2596G>T (p.Val866Phe)	KIF21B (V866F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2406911	NM_001252102.2(KIF21B):c.2590C>T (p.Arg864Cys)	KIF21B (R864C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532886	NM_001252102.2(KIF21B):c.2558G>A (p.Ser853Asn)	KIF21B (S853N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114652	NM_001252102.2(KIF21B):c.2528T>C (p.Met843Thr)	KIF21B (M843T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293344	NM_001252102.2(KIF21B):c.2525C>G (p.Pro842Arg)	KIF21B (P842R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041759	NM_001252102.2(KIF21B):c.2507G>A (p.Arg836His)	KIF21B (R836H)	Single nucleotide variant (missense variant)	KIF21B-related disorder	GLikely benign
Select item 3288523	NM_001252102.2(KIF21B):c.2506C>T (p.Arg836Cys)	KIF21B (R836C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264313	NM_001252102.2(KIF21B):c.2471G>A (p.Arg824His)	KIF21B (R824H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582103	NM_001252102.2(KIF21B):c.2408C>T (p.Ser803Phe)	KIF21B (S803F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3114651	NM_001252102.2(KIF21B):c.2396G>A (p.Arg799Gln)	KIF21B (R799Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114649	NM_001252102.2(KIF21B):c.2345G>A (p.Arg782Gln)	KIF21B (R782Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244674	NM_001252102.2(KIF21B):c.2344C>T (p.Arg782Trp)	KIF21B (R782W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1418389	NM_001252102.2(KIF21B):c.2335A>G (p.Lys779Glu)	KIF21B (K779E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207960	NM_001252102.2(KIF21B):c.2224G>A (p.Glu742Lys)	KIF21B (E742K)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2639733	NM_001252102.2(KIF21B):c.2223C>T (p.Tyr741=)	KIF21B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3114648	NM_001252102.2(KIF21B):c.2219G>A (p.Arg740His)	KIF21B (R740H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639734	NM_001252102.2(KIF21B):c.2216C>T (p.Ser739Leu)	KIF21B (S739L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3114647	NM_001252102.2(KIF21B):c.2212C>G (p.Gln738Glu)	KIF21B (Q738E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2501884	NM_001252102.2(KIF21B):c.2159A>G (p.Asp720Gly)	KIF21B (D720G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679692	NM_001252102.2(KIF21B):c.2156G>A (p.Arg719Gln)	KIF21B (R719Q)	Single nucleotide variant (missense variant)	KIF21B-related Neurodevelopmental disorder +1 more	GUncertain significance
Select item 2639735	NM_001252102.2(KIF21B):c.2145G>A (p.Arg715=)	KIF21B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3114646	NM_001252102.2(KIF21B):c.2144G>A (p.Arg715Gln)	KIF21B (R715Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572693	NM_001252102.2(KIF21B):c.2079C>A (p.Ser693Arg)	KIF21B (S693R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1697003	NM_001252102.2(KIF21B):c.1987C>T (p.Leu663Phe)	KIF21B (L663F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1334331	NM_001252102.2(KIF21B):c.1902G>C (p.Ala634=)	KIF21B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2639736	NM_001252102.2(KIF21B):c.1836G>C (p.Ser612=)	KIF21B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2349366	NM_001252102.2(KIF21B):c.1835C>T (p.Ser612Leu)	KIF21B (S612L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610146	NM_001252102.2(KIF21B):c.1820A>T (p.Asp607Val)	KIF21B (D607V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639737	NM_001252102.2(KIF21B):c.1816G>A (p.Glu606Lys)	KIF21B (E606K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2639738	NM_001252102.2(KIF21B):c.1814G>A (p.Arg605His)	KIF21B (R605H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2558607	NM_001252102.2(KIF21B):c.1781G>C (p.Arg594Pro)	KIF21B (R594P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 451005	NM_001252102.2(KIF21B):c.1719del (p.Lys573fs)	KIF21B (K573fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2390062	NM_001252102.2(KIF21B):c.1690G>A (p.Glu564Lys)	KIF21B (E564K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345297	NM_001252102.2(KIF21B):c.1675C>T (p.Arg559Trp)	KIF21B (R559W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729088	NM_001252102.2(KIF21B):c.1659G>A (p.Lys553=)	KIF21B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1698032	NM_001252102.2(KIF21B):c.1588C>T (p.Pro530Ser)	KIF21B (P530S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2611441	NM_001252102.2(KIF21B):c.1496A>G (p.Asn499Ser)	KIF21B (N499S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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