ClinVar for MedGen (Select 412713) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1790508	NM_001365951.3(KIF1B):c.2525T>C (p.Leu842Ser)	KIF1B (L796S +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 1 +1 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 +2 more	GConflicting classifications of pathogenicity
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 1331070	NM_001365951.3(KIF1B):c.2115+7081C>T	KIF1B (R1048C)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1039307	NM_001365951.3(KIF1B):c.668T>C (p.Ile223Thr)	KIF1B (I223T)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 1 +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)	Charcot-Marie-Tooth disease type 2 +4 more	GUncertain significance
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 695344	NM_001365951.3(KIF1B):c.5097-9C>T	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 291580	NM_001365951.3(KIF1B):c.4265G>A (p.Arg1422His)	KIF1B (R1376H +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 4661	NM_001365951.3(KIF1B):c.3787C>T (p.Pro1263Ser)	KIF1B (P1217S +1 more)	Single nucleotide variant (missense variant)	not specified +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)	not specified +4 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