ClinVar for MedGen (Select 350076) - ClinVar - NCBI

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Items: 17

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25826941.	NM_032564.5(DGAT2):c.245T>C (p.Val82Ala) GRCh37: Chr11:75495786 GRCh38: Chr11:75784741	DGAT2	V82A	Charcot-Marie-Tooth disease type 2A1	Uncertain significance	no assertion criteria provided
Select item 25053582.	NM_001365951.3(KIF1B):c.2137G>A (p.Ala713Thr) GRCh37: Chr1:10380122 GRCh38: Chr1:10320064	KIF1B	A667T, A713T	Charcot-Marie-Tooth disease type 2A1	Uncertain significance (May 26, 2023)	criteria provided, single submitter
Select item 13421753.	NM_001365951.3(KIF1B):c.4922C>T (p.Ser1641Phe) GRCh37: Chr1:10431296 GRCh38: Chr1:10371238	KIF1B	S1595F, S1641F	Charcot-Marie-Tooth disease type 2A1, Hereditary cancer-predisposing syndrome	Uncertain significance (Jan 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13420254.	NM_001365951.3(KIF1B):c.2115+6281A>G GRCh37: Chr1:10363585 GRCh38: Chr1:10303527	KIF1B	E781G	Charcot-Marie-Tooth disease type 2A1	Uncertain significance (Jan 13, 2022)	criteria provided, single submitter
Select item 10326525.	NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His) GRCh37: Chr1:10399838 GRCh38: Chr1:10339780	KIF1B	R1145H, R1099H	Hereditary cancer-predisposing syndrome, Pheochromocytoma, Charcot-Marie-Tooth disease type 2A1, Pheochromocytoma, Neuroblastoma, susceptibility to, 1, Charcot-Marie-Tooth disease type 2	Uncertain significance (Dec 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9171156.	NM_001365951.3(KIF1B):c.4753-20C>A GRCh37: Chr1:10428505 GRCh38: Chr1:10368447	KIF1B		Charcot-Marie-Tooth disease, Pheochromocytoma, Charcot-Marie-Tooth disease type 2A1, Neuroblastoma, susceptibility to, 1, Charcot-Marie-Tooth disease type 2	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8060687.	NM_014874.4(MFN2):c.1292C>T (p.Ser431Leu) GRCh37: Chr1:12064570 GRCh38: Chr1:12004513	MFN2	S431L	not provided, Charcot-Marie-Tooth disease type 2	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 6953448.	NM_001365951.3(KIF1B):c.5097-9C>T GRCh37: Chr1:10434903 GRCh38: Chr1:10374845	KIF1B		Charcot-Marie-Tooth disease, Pheochromocytoma, Charcot-Marie-Tooth disease type 2A1, Neuroblastoma, susceptibility to, 1, Charcot-Marie-Tooth disease type 2	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4083129.	NM_001365951.3(KIF1B):c.2159C>T (p.Thr720Ile) GRCh37: Chr1:10380144 GRCh38: Chr1:10320086	KIF1B	T674I, T720I	Hereditary cancer-predisposing syndrome, not provided, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2A1, Charcot-Marie-Tooth disease type 2	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 40830910.	NM_001365951.3(KIF1B):c.1705A>G (p.Ile569Val) GRCh37: Chr1:10355752 GRCh38: Chr1:10295694	KIF1B	I523V, I569V	Hereditary cancer-predisposing syndrome, Charcot-Marie-Tooth disease type 2, Pheochromocytoma, Neuroblastoma, Charcot-Marie-Tooth disease type 2A1	Uncertain significance (Dec 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29156711.	NM_001365951.3(KIF1B):c.3398A>G (p.Tyr1133Cys) GRCh37: Chr1:10397567 GRCh38: Chr1:10337509	KIF1B	Y1087C, Y1133C	Charcot-Marie-Tooth disease, Hereditary cancer-predisposing syndrome, Charcot-Marie-Tooth disease type 2, not provided, Neuroblastoma	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29156212.	NM_001365951.3(KIF1B):c.2830G>A (p.Gly944Ser) GRCh37: Chr1:10386323 GRCh38: Chr1:10326265	KIF1B, LOC126805614	G898S, G944S	Neuroblastoma, Charcot-Marie-Tooth disease type 2A1, Hereditary cancer-predisposing syndrome	Uncertain significance (Mar 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26054213.	NM_001365951.3(KIF1B):c.720+17C>T GRCh37: Chr1:10328338 GRCh38: Chr1:10268280	KIF1B		Hereditary cancer-predisposing syndrome, not specified, Charcot-Marie-Tooth disease type 2, Pheochromocytoma, Charcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease type 2A1	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17796014.	NM_001365951.3(KIF1B):c.1777+10C>T GRCh37: Chr1:10355834 GRCh38: Chr1:10295776	KIF1B		Hereditary cancer-predisposing syndrome, not provided, Neuroblastoma, Charcot-Marie-Tooth disease type 2A1, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, not specified, Pheochromocytoma	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12940115.	NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) GRCh37: Chr1:10435324 GRCh38: Chr1:10375266	KIF1B		Charcot-Marie-Tooth disease, Hereditary cancer-predisposing syndrome, Neuroblastoma, not specified, Charcot-Marie-Tooth disease type 2, not provided, Charcot-Marie-Tooth disease type 2A1, Pheochromocytoma	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12939916.	NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) GRCh37: Chr1:10318652 GRCh38: Chr1:10258594	KIF1B		Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, not specified, Hereditary cancer-predisposing syndrome, not provided, Neuroblastoma, Charcot-Marie-Tooth disease type 2A1, Pheochromocytoma	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 465817.	NM_001365951.3(KIF1B):c.293A>T (p.Gln98Leu) GRCh37: Chr1:10318660 GRCh38: Chr1:10258602	KIF1B	Q98L	Charcot-Marie-Tooth disease type 2A1	Pathogenic (Jun 1, 2001)	no assertion criteria provided