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Links from MedGen

Items: 9

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:10364284
GRCh38:
Chr1:10304226
KIF1BK1014RNeuroblastoma, susceptibility to, 1Uncertain significance
(Aug 29, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr1:10355750
GRCh38:
Chr1:10295692
KIF1BD522V, D568VNeuroblastoma, susceptibility to, 1Uncertain significance
(Nov 30, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr1:10384108
GRCh38:
Chr1:10324050
KIF1BL796S, L842SHereditary cancer-predisposing syndrome, Neuroblastoma, susceptibility to, 1Uncertain significance
(May 8, 2023)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr1:10399838
GRCh38:
Chr1:10339780
KIF1BR1145H, R1099HCharcot-Marie-Tooth disease type 2A1, Pheochromocytoma, Neuroblastoma, susceptibility to, 1,
Pheochromocytoma, Hereditary cancer-predisposing syndrome, Charcot-Marie-Tooth disease type 2
Uncertain significance
(Dec 25, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr1:10428505
GRCh38:
Chr1:10368447
KIF1BCharcot-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
6.
GRCh37:
Chr1:10434903
GRCh38:
Chr1:10374845
KIF1BCharcot-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
7.
GRCh37:
Chr1:10406001
GRCh38:
Chr1:10345943
KIF1BP1217S, P1263SCharcot-Marie-Tooth disease type 2, Hereditary cancer-predisposing syndrome, Neuroblastoma
Conflicting interpretations of pathogenicity
(Sep 28, 2022)
criteria provided, conflicting interpretations
8.
GRCh37:
Chr1:10384896
GRCh38:
Chr1:10324838
KIF1BT827I, T873IHereditary cancer-predisposing syndrome, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease,
not provided, Neuroblastoma
Conflicting interpretations of pathogenicity
(Oct 23, 2022)
criteria provided, conflicting interpretations
9.
GRCh37:
Chr1:10357264
GRCh38:
Chr1:10297206
KIF1BE646V, E692VNeuroblastoma, susceptibility to, 1risk factor
(Apr 1, 2008)
no assertion criteria provided
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