C1861678[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 476790	NM_001365951.3(KIF1B):c.791G>A (p.Arg264Gln)	KIF1B (R264Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +2 more	GUncertain significance
Select item 476778	NM_001365951.3(KIF1B):c.1594C>G (p.Pro532Ala)	KIF1B (P486A +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1780152	NM_001365951.3(KIF1B):c.1927G>A (p.Glu643Lys)	KIF1B (E643K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +1 more	GUncertain significance
Select item 2433134	NM_001365951.3(KIF1B):c.2042G>A (p.Arg681Lys)	KIF1B (R635K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +1 more	GUncertain significance
Select item 1728713	NM_001365951.3(KIF1B):c.3334A>G (p.Lys1112Glu)	KIF1B (K1066E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +2 more	GUncertain significance
Select item 155749	NM_001365951.3(KIF1B):c.3407T>C (p.Ile1136Thr)	KIF1B (I1090T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +3 more	GConflicting classifications of pathogenicity
Select item 1730364	NM_001365951.3(KIF1B):c.3475G>C (p.Gly1159Arg)	KIF1B (G1113R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +2 more	GUncertain significance
Select item 1018792	NM_001365951.3(KIF1B):c.3650G>A (p.Arg1217His)	KIF1B (R1171H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 543204	NM_001365951.3(KIF1B):c.3824C>G (p.Thr1275Arg)	KIF1B (T1229R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +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)	not specified +6 more	GUncertain significance
Select item 2433133	NM_001365951.3(KIF1B):c.4567C>T (p.Pro1523Ser)	KIF1B (P1477S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1	GUncertain significance
Select item 291582	NM_001365951.3(KIF1B):c.4820G>A (p.Cys1607Tyr)	KIF1B (C1561Y +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A1 +4 more	GConflicting classifications of pathogenicity
Select item 855407	NM_001365951.3(KIF1B):c.5203A>G (p.Ser1735Gly)	KIF1B (S1689G +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +3 more	GConflicting classifications of pathogenicity