Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869320694
rs869320694
FGFR1
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		0.810 GeneticVariation BEFREE Targeted sequencing of tissue from the right gluteal mass, revealed a mosaic activating FGFR1 c.1966A>G (p.Lys656Glu) mutation, absent in normal left gluteal tissue, confirming the diagnosis of encephalocraniocutaneous lipomatosis (ECCL), belonging to the family of RASopathies (including neurofibromatosis type I, Noonan syndrome, Costello syndrome), with constitutive activation of the mitogen-activated protein kinase (MAPK) pathway, and an increased risk of developing neoplasms. 29683947

2018
dbSNP: rs869320694
rs869320694
FGFR1
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		0.810 GeneticVariation UNIPROT Using exome sequencing of DNA from multiple affected tissues from five unrelated individuals with ECCL, we identified two mosaic mutations, c.1638C>A (p.Asn546Lys) and c.1966A>G (p.Lys656Glu) within the tyrosine kinase domain of FGFR1, in two affected individuals each. 26942290

2016
dbSNP: rs869320694
rs869320694
FGFR1
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		0.810 GeneticVariation UNIPROT The precise sequence of FGF receptor autophosphorylation is kinetically driven and is disrupted by oncogenic mutations. 19224897

2009
dbSNP: rs869320694
rs869320694
FGFR1
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		C 0.810 CausalMutation CLINVAR

dbSNP: rs869320694
rs869320694
FGFR1
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		C 0.810 GeneticVariation CLINVAR

dbSNP: rs869320694
rs869320694
FGFR1
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs869320694
rs869320694
FGFR1
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs869320694
rs869320694
FGFR1
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs869320694
rs869320694
FGFR1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs869320694
rs869320694
FGFR1
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs869320694
rs869320694
FGFR1
CUI: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
Acute lymphoblastic leukemia with lymphomatous features 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs869320694
rs869320694
FGFR1
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 GeneticVariation BEFREE Targeted sequencing of tissue from the right gluteal mass, revealed a mosaic activating FGFR1 c.1966A>G (p.Lys656Glu) mutation, absent in normal left gluteal tissue, confirming the diagnosis of encephalocraniocutaneous lipomatosis (ECCL), belonging to the family of RASopathies (including neurofibromatosis type I, Noonan syndrome, Costello syndrome), with constitutive activation of the mitogen-activated protein kinase (MAPK) pathway, and an increased risk of developing neoplasms. 29683947

2018
dbSNP: rs869320694
rs869320694
FGFR1
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 GeneticVariation BEFREE Somatic activating FGFR1 mutations (p.N546K or p.K656E) were observed in the tumor samples and further evidence for functional relevance was obtained by in silico modeling. 26920151

2016
dbSNP: rs869320694
rs869320694
FGFR1
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 GeneticVariation BEFREE Notably, the patient with an FGFR1 K656E mutated RGNT had undergone a resection of a diencephalic pilocytic astrocytoma with pilomyxoid features 5 years before the discovery of the fourth ventricle tumor; the mutational analysis uncovered the presence of the same FGFR1 K656E mutation in the diencephalic tumor. 24806303

2014
dbSNP: rs869320694
rs869320694
FGFR1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.010 GeneticVariation BEFREE Targeted sequencing of tissue from the right gluteal mass, revealed a mosaic activating FGFR1 c.1966A>G (p.Lys656Glu) mutation, absent in normal left gluteal tissue, confirming the diagnosis of encephalocraniocutaneous lipomatosis (ECCL), belonging to the family of RASopathies (including neurofibromatosis type I, Noonan syndrome, Costello syndrome), with constitutive activation of the mitogen-activated protein kinase (MAPK) pathway, and an increased risk of developing neoplasms. 29683947

2018
dbSNP: rs869320694
rs869320694
FGFR1
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 GeneticVariation BEFREE The DDR2 E655K mutation can play a role in cancer progression by reducing the growth-inhibitory effect of collagen.Clin Cancer Res; 22(14); 3663-71.©2016 AACR. 26826182

2016
dbSNP: rs869320694
rs869320694
FGFR1
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 GeneticVariation BEFREE The DDR2 E655K mutation can play a role in cancer progression by reducing the growth-inhibitory effect of collagen. 26826182

2016
dbSNP: rs869320694
rs869320694
FGFR1
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE The DDR2 E655K mutation can play a role in cancer progression by reducing the growth-inhibitory effect of collagen.Clin Cancer Res; 22(14); 3663-71.©2016 AACR. 26826182

2016
dbSNP: rs869320694
rs869320694
FGFR1
CUI: C1333286
Disease: Diencephalic Neoplasm
Diencephalic Neoplasm 		0.010 GeneticVariation BEFREE Notably, the patient with an FGFR1 K656E mutated RGNT had undergone a resection of a diencephalic pilocytic astrocytoma with pilomyxoid features 5 years before the discovery of the fourth ventricle tumor; the mutational analysis uncovered the presence of the same FGFR1 K656E mutation in the diencephalic tumor. 24806303

2014
dbSNP: rs869320694
rs869320694
FGFR1
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		0.010 GeneticVariation BEFREE Mutation of Lys650-->Glu in the activation loop of the FGFR3 kinase domain causes the lethal human skeletal disorder thanatophoric dysplasia type II (TDII) and is also found in patients with multiple myeloma, bladder and cervical carcinomas. 10918587

2000
dbSNP: rs869320694
rs869320694
FGFR1
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 GeneticVariation BEFREE Mutation of Lys650-->Glu in the activation loop of the FGFR3 kinase domain causes the lethal human skeletal disorder thanatophoric dysplasia type II (TDII) and is also found in patients with multiple myeloma, bladder and cervical carcinomas. 10918587

2000
dbSNP: rs869320694
rs869320694
FGFR1
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 GeneticVariation BEFREE Mutation of Lys650-->Glu in the activation loop of the FGFR3 kinase domain causes the lethal human skeletal disorder thanatophoric dysplasia type II (TDII) and is also found in patients with multiple myeloma, bladder and cervical carcinomas. 10918587

2000