"Eurofins Ntd Llc (ga)"[submitter] AND "KIF1B"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 287755	NM_001365951.3(KIF1B):c.-5T>C	KIF1B, LOC129388446	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 281657	NM_001365951.3(KIF1B):c.430-9del	KIF1B	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 194969	NM_001365951.3(KIF1B):c.2001G>A (p.Leu667=)	KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 195512	NM_001365951.3(KIF1B):c.2043-9dup	KIF1B	Duplication (intron variant)	not specified +1 more	GBenign
Select item 195513	NM_001365951.3(KIF1B):c.2043-10_2043-9del	KIF1B	Deletion (intron variant)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
Select item 289461	NM_001365951.3(KIF1B):c.2115+6A>T	KIF1B	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 284228	NM_001365951.3(KIF1B):c.2115+6625G>A	KIF1B (G896R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 284226	NM_001365951.3(KIF1B):c.2115+6805C>G	KIF1B (R956G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 283154	NM_001365951.3(KIF1B):c.2115+6956A>G	KIF1B (E1006G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 284016	NM_001365951.3(KIF1B):c.2115+7031T>C	KIF1B (I1031T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 596810	NM_001365951.3(KIF1B):c.2115+7154C>G	KIF1B (S1072*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 501119	NM_001365951.3(KIF1B):c.2551T>A (p.Leu851Met)	KIF1B (L805M +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GConflicting classifications of pathogenicity
Select item 283613	NM_001365951.3(KIF1B):c.3079C>T (p.Arg1027Ter)	KIF1B (R981* +1 more)	Single nucleotide variant (nonsense)	Exaggerated startle response +4 more	GConflicting classifications of pathogenicity
Select item 196788	NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=)	KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 196959	NM_001365951.3(KIF1B):c.3925A>G (p.Lys1309Glu)	KIF1B (K1263E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 284219	NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=)	KIF1B	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 215516	NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=)	KIF1B	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 596809	NM_001365951.3(KIF1B):c.5063A>G (p.Asn1688Ser)	KIF1B (N1642S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 220407	NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=)	KIF1B	Single nucleotide variant (synonymous variant)	Neuroblastoma +4 more	GBenign/Likely benign