ClinVar for MedGen (Select 412713) - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3891480	NM_001365951.3(KIF1B):c.2115+6523G>A	KIF1B (G862R)	Single nucleotide variant (missense variant +1 more)	Neuroblastoma, susceptibility to, 1 +1 more	GUncertain significance
Select item 3602674	NM_001365951.3(KIF1B):c.2115+7012A>G	KIF1B (M1025V)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma +2 more	GUncertain significance
Select item 3600023	NM_001365951.3(KIF1B):c.4819T>C (p.Cys1607Arg)	KIF1B (C1607R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +1 more	GUncertain significance
Select item 3599967	NM_001365951.3(KIF1B):c.4718G>A (p.Ser1573Asn)	KIF1B (S1527N +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +1 more	GUncertain significance
Select item 3598995	NM_001365951.3(KIF1B):c.2665C>A (p.Leu889Ile)	KIF1B (L843I +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +1 more	GUncertain significance
Select item 3598896	NM_001365951.3(KIF1B):c.2235G>C (p.Glu745Asp)	KIF1B (E745D +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +1 more	GUncertain significance
Select item 3598774	NM_001365951.3(KIF1B):c.2115+7229G>A	KIF1B (R1097H)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2A1 +1 more	GUncertain significance
Select item 3598731	NM_001365951.3(KIF1B):c.2115+7171G>T	KIF1B (G1078C)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2A1 +1 more	GUncertain significance
Select item 3598656	NM_001365951.3(KIF1B):c.2115+6944A>T	KIF1B (E1002V)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2A1 +1 more	GUncertain significance
Select item 3598581	NM_001365951.3(KIF1B):c.2115+6945_2115+6947del	KIF1B (E1003del)	Microsatellite (intron variant)	Charcot-Marie-Tooth disease type 2A1 +1 more	GUncertain significance
Select item 3598507	NM_001365951.3(KIF1B):c.2115+6427T>G	KIF1B (L830V)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2A1 +1 more	GUncertain significance
Select item 3598227	NM_001365951.3(KIF1B):c.2115+6181G>A	KIF1B (A748T)	Single nucleotide variant (missense variant +1 more)	Neuroblastoma, susceptibility to, 1 +1 more	GUncertain significance
Select item 3597729	NM_001365951.3(KIF1B):c.2115+6124T>C	KIF1B (W729R)	Single nucleotide variant (missense variant +1 more)	Neuroblastoma, susceptibility to, 1 +1 more	GUncertain significance
Select item 3597170	NM_001365951.3(KIF1B):c.2115+6103C>T	KIF1B (R722C)	Single nucleotide variant (intron variant +1 more)	Neuroblastoma, susceptibility to, 1 +1 more	GUncertain significance
Select item 3596557	NM_001365951.3(KIF1B):c.2115+6053G>A	KIF1B (S705N)	Single nucleotide variant (missense variant +1 more)	Neuroblastoma, susceptibility to, 1 +1 more	GUncertain significance
Select item 3596135	NM_001365951.3(KIF1B):c.2115+5956T>G	KIF1B (S673A)	Single nucleotide variant (missense variant +1 more)	Neuroblastoma, susceptibility to, 1 +1 more	GUncertain significance
Select item 3594241	NM_001365951.3(KIF1B):c.1565_1566insGTT (p.Thr522_Leu523insPhe)	KIF1B	Insertion	Neuroblastoma, susceptibility to, 1 +1 more	GUncertain significance
Select item 3590702	NM_001365951.3(KIF1B):c.1177G>T (p.Asp393Tyr)	KIF1B (D393Y +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 1 +1 more	GUncertain significance
Select item 3585632	NM_001365951.3(KIF1B):c.418T>A (p.Tyr140Asn)	KIF1B, LOC129388447 (Y140N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +1 more	GUncertain significance
Select item 3533971	NM_001365951.3(KIF1B):c.2389A>G (p.Thr797Ala)	KIF1B (T751A +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 1 +3 more	GUncertain significance
Select item 3533871	NM_001365951.3(KIF1B):c.4056G>A (p.Arg1352=)	KIF1B	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 3377777	NM_001365951.3(KIF1B):c.3827C>A (p.Ala1276Glu)	KIF1B (A1230E +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 1	GUncertain significance
Select item 3355869	NM_001365951.3(KIF1B):c.2115+6774T>G	KIF1B (N945K)	Single nucleotide variant (missense variant +1 more)	Neuroblastoma, susceptibility to, 1	GUncertain significance
Select item 3288399	NM_001365951.3(KIF1B):c.3541G>A (p.Val1181Met)	KIF1B (V1135M +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 1 +2 more	GUncertain significance
Select item 3288377	NM_001365951.3(KIF1B):c.2501A>G (p.Asn834Ser)	KIF1B (N834S +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 1 +2 more	GUncertain significance
Select item 3288358	NM_001365951.3(KIF1B):c.694A>G (p.Asn232Asp)	KIF1B (N232D)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 1 +2 more	GUncertain significance
Select item 2712316	NM_001365951.3(KIF1B):c.184-6T>G	KIF1B	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 2577888	NM_001365951.3(KIF1B):c.2115+7343G>A	KIF1B (R1135Q)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2A1 +2 more	GUncertain significance
Select item 2577887	NM_001365951.3(KIF1B):c.2115+6980A>G	KIF1B (K1014R)	Single nucleotide variant (missense variant +1 more)	Neuroblastoma, susceptibility to, 1	GUncertain significance
Select item 2444903	NM_001365951.3(KIF1B):c.1703A>T (p.Asp568Val)	KIF1B (D522V +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 1	GUncertain significance
Select item 2308835	NM_001365951.3(KIF1B):c.4417C>T (p.Arg1473Trp)	KIF1B (R1427W +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1798882	NM_001365951.3(KIF1B):c.3157C>T (p.Arg1053Cys)	KIF1B (R1007C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GUncertain significance
Select item 1794940	NM_001365951.3(KIF1B):c.2839G>A (p.Ala947Thr)	KIF1B, LOC126805614 (A947T +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 1 +2 more	GUncertain significance
Select item 1792993	NM_001365951.3(KIF1B):c.2692G>A (p.Gly898Ser)	KIF1B, LOC126805614 (G852S +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 1 +3 more	GUncertain significance
Select item 1790508	NM_001365951.3(KIF1B):c.2525T>C (p.Leu842Ser)	KIF1B (L796S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1777925	NM_001365951.3(KIF1B):c.1819G>A (p.Val607Ile)	KIF1B (V561I +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1746488	NM_001365951.3(KIF1B):c.526C>A (p.Pro176Thr)	KIF1B (P176T)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 1 +2 more	GUncertain significance
Select item 1744917	NM_001365951.3(KIF1B):c.5173G>A (p.Val1725Ile)	KIF1B (V1679I +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 1744019	NM_001365951.3(KIF1B):c.5047A>G (p.Lys1683Glu)	KIF1B (K1637E +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 1 +2 more	GUncertain significance
Select item 1743280	NM_001365951.3(KIF1B):c.4948A>C (p.Thr1650Pro)	KIF1B (T1650P +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 1 +2 more	GUncertain significance
Select item 1738868	NM_001365951.3(KIF1B):c.4366+4A>T	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +3 more	GUncertain significance
Select item 1737388	NM_001365951.3(KIF1B):c.1300G>A (p.Ala434Thr)	KIF1B (A434T)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 2 +3 more	GUncertain significance
Select item 1734527	NM_001365951.3(KIF1B):c.3886G>C (p.Val1296Leu)	KIF1B (V1296L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1733688	NM_001365951.3(KIF1B):c.3798-3T>C	KIF1B	Single nucleotide variant (intron variant)	not specified +3 more	GUncertain significance
Select item 1727421	NM_001365951.3(KIF1B):c.3227C>T (p.Pro1076Leu)	KIF1B (P1030L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +3 more	GUncertain significance
Select item 1693803	NM_001365951.3(KIF1B):c.5036C>G (p.Ala1679Gly)	KIF1B (A1633G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +4 more	GUncertain significance
Select item 1494247	NM_001365951.3(KIF1B):c.5208C>A (p.Asp1736Glu)	KIF1B (D1690E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GUncertain significance
Select item 1448914	NM_001365951.3(KIF1B):c.1804C>T (p.Arg602Cys)	KIF1B (R556C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +3 more	GUncertain significance
Select item 1419477	NM_001365951.3(KIF1B):c.4445G>A (p.Arg1482Gln)	KIF1B (R1482Q +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1414650	NM_001365951.3(KIF1B):c.109A>G (p.Ile37Val)	KIF1B (I37V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GUncertain significance
Select item 1404980	NM_001365951.3(KIF1B):c.4195G>A (p.Val1399Ile)	KIF1B (V1353I +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1400116	NM_001365951.3(KIF1B):c.2824G>A (p.Asp942Asn)	KIF1B, LOC126805614 (D896N +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +3 more	GUncertain significance
Select item 1389324	NM_001365951.3(KIF1B):c.3151A>G (p.Met1051Val)	KIF1B (M1005V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 1386186	NM_001365951.3(KIF1B):c.4543C>T (p.Arg1515Cys)	KIF1B (R1515C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GUncertain significance
Select item 1379326	NM_001365951.3(KIF1B):c.3827C>T (p.Ala1276Val)	KIF1B (A1276V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GUncertain significance
Select item 1331070	NM_001365951.3(KIF1B):c.2115+7081C>T	KIF1B (R1048C)	Single nucleotide variant (missense variant +1 more)	Neuroblastoma, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1284949	NM_001365951.3(KIF1B):c.2115+6581G>A	KIF1B (G881D)	Single nucleotide variant (missense variant +1 more)	Neuroblastoma, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1039307	NM_001365951.3(KIF1B):c.668T>C (p.Ile223Thr)	KIF1B (I223T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 1032652	NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His)	KIF1B (R1145H +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +4 more	GUncertain significance
Select item 1007653	NM_001365951.3(KIF1B):c.4970C>T (p.Ala1657Val)	KIF1B (A1611V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +3 more	GConflicting classifications of pathogenicity
Select item 964060	NM_001365951.3(KIF1B):c.3119A>G (p.Tyr1040Cys)	KIF1B (Y994C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +4 more	GUncertain significance
Select item 955990	NM_001365951.3(KIF1B):c.782A>G (p.Lys261Arg)	KIF1B (K261R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +3 more	GUncertain significance
Select item 946995	NM_001365951.3(KIF1B):c.4297C>A (p.Pro1433Thr)	KIF1B (P1433T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +3 more	GConflicting classifications of pathogenicity
Select item 943303	NM_001365951.3(KIF1B):c.392A>G (p.Asn131Ser)	KIF1B, LOC129388447 (N131S)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 917115	NM_001365951.3(KIF1B):c.4753-20C>A	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 876140	NM_001365951.3(KIF1B):c.4967G>A (p.Arg1656Gln)	KIF1B (R1656Q +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma +5 more	GBenign/Likely benign
Select item 875167	NM_001365951.3(KIF1B):c.4282G>A (p.Gly1428Ser)	KIF1B (G1382S +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma +4 more	GConflicting classifications of pathogenicity
Select item 875118	NM_001365951.3(KIF1B):c.2516A>G (p.Tyr839Cys)	KIF1B (Y839C +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma +4 more	GUncertain significance
Select item 843328	NM_001365951.3(KIF1B):c.1770C>G (p.Ser590Arg)	KIF1B (S544R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GConflicting classifications of pathogenicity
Select item 695344	NM_001365951.3(KIF1B):c.5097-9C>T	KIF1B	Single nucleotide variant (intron variant)	Pheochromocytoma +4 more	GBenign/Likely benign
Select item 640472	NM_001365951.3(KIF1B):c.4019C>A (p.Ser1340Tyr)	KIF1B (S1294Y +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GUncertain significance
Select item 570523	NM_001365951.3(KIF1B):c.2675+3A>G	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 543193	NM_001365951.3(KIF1B):c.1133G>A (p.Arg378Gln)	KIF1B (R372Q +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 476790	NM_001365951.3(KIF1B):c.791G>A (p.Arg264Gln)	KIF1B (R264Q)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 1 +3 more	GUncertain significance
Select item 476788	NM_001365951.3(KIF1B):c.5214C>G (p.Asp1738Glu)	KIF1B (D1692E +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 476776	NM_001365951.3(KIF1B):c.1364C>T (p.Thr455Met)	KIF1B (T409M +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 374063	NM_001365951.3(KIF1B):c.4525C>T (p.Arg1509Cys)	KIF1B (R1463C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +7 more	GUncertain significance
Select item 291580	NM_001365951.3(KIF1B):c.4265G>A (p.Arg1422His)	KIF1B (R1376H +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 1 +4 more	GUncertain significance
Select item 291567	NM_001365951.3(KIF1B):c.3398A>G (p.Tyr1133Cys)	KIF1B (Y1087C +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign
Select item 157531	NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg)	KIF1B (K294R +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 155749	NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr)	KIF1B (I1090T +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 4661	NM_001365951.3(KIF1B):c.3787C>T (p.Pro1263Ser)	KIF1B (P1217S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 4660	NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile)	KIF1B (T827I +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +6 more	GConflicting classifications of pathogenicity
Select item 4659	NM_001365951.3(KIF1B):c.2075A>T (p.Glu692Val)	KIF1B (E646V +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 1	Grisk factor

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Items: 84