ClinVar for MedGen (Select 1678789) - ClinVar

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

Result Filters

Links from MedGen

Items: 29

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24430771.	NM_001288705.3(CSF1R):c.69dup (p.Glu24fs) GRCh37: Chr5:149460567-149460568 GRCh38: Chr5:150081004-150081005	CSF1R	E24fs	Brain abnormalities, neurodegeneration, and dysosteosclerosis	Likely pathogenic (Feb 21, 2023)	criteria provided, single submitter
Select item 24419952.	NM_001288705.3(CSF1R):c.604C>T (p.Pro202Ser) GRCh37: Chr5:149457800 GRCh38: Chr5:150078237	CSF1R	P202S, P54S	Brain abnormalities, neurodegeneration, and dysosteosclerosis	Uncertain significance (May 28, 2021)	criteria provided, single submitter
Select item 24419723.	NM_001288705.3(CSF1R):c.740C>T (p.Pro247Leu) GRCh37: Chr5:149456988 GRCh38: Chr5:150077425	CSF1R	P247L, P99L	Brain abnormalities, neurodegeneration, and dysosteosclerosis	Uncertain significance (Oct 19, 2021)	criteria provided, single submitter
Select item 15308124.	NM_001288705.3(CSF1R):c.1938C>T (p.Ile646=) GRCh37: Chr5:149440456 GRCh38: Chr5:150060893	CSF1R		not provided, Brain abnormalities, neurodegeneration, and dysosteosclerosis, Leukoencephalopathy, diffuse hereditary, with spheroids 1	Benign/Likely benign (Apr 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14657145.	NM_001288705.3(CSF1R):c.656C>A (p.Ala219Asp) GRCh37: Chr5:149457748 GRCh38: Chr5:150078185	CSF1R, LOC111188154	A219D, A71D	Brain abnormalities, neurodegeneration, and dysosteosclerosis, Leukoencephalopathy, diffuse hereditary, with spheroids 1, not provided	Uncertain significance (Nov 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 14206666.	NM_001288705.3(CSF1R):c.2073G>C (p.Gln691His) GRCh37: Chr5:149439322 GRCh38: Chr5:150059759	CSF1R	Q543H, Q691H	not provided, Brain abnormalities, neurodegeneration, and dysosteosclerosis, Leukoencephalopathy, diffuse hereditary, with spheroids 1	Conflicting interpretations of pathogenicity (Oct 16, 2022)	criteria provided, conflicting interpretations
Select item 13418727.	NM_001288705.3(CSF1R):c.410G>T (p.Gly137Val) GRCh37: Chr5:149459797 GRCh38: Chr5:150080234	CSF1R	G137V	Brain abnormalities, neurodegeneration, and dysosteosclerosis, Hereditary diffuse leukoencephalopathy with spheroids	Uncertain significance (Feb 23, 2021)	criteria provided, single submitter
Select item 13282478.	NM_001288705.3(CSF1R):c.1510+16C>T GRCh37: Chr5:149449420 GRCh38: Chr5:150069857	CSF1R		Brain abnormalities, neurodegeneration, and dysosteosclerosis, Leukoencephalopathy, diffuse hereditary, with spheroids 1, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12554109.	NM_001288705.3(CSF1R):c.2442+23C>T GRCh37: Chr5:149435759 GRCh38: Chr5:150056196	CSF1R		not provided, Brain abnormalities, neurodegeneration, and dysosteosclerosis, Hereditary diffuse leukoencephalopathy with spheroids	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 123682210.	NM_001288705.3(CSF1R):c.2133-35G>C GRCh37: Chr5:149437190 GRCh38: Chr5:150057627	CSF1R		Hereditary diffuse leukoencephalopathy with spheroids, Brain abnormalities, neurodegeneration, and dysosteosclerosis, not provided	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102994611.	NM_001288705.3(CSF1R):c.1620T>A (p.Tyr540Ter) GRCh37: Chr5:149447784 GRCh38: Chr5:150068221	CSF1R	Y392, Y540	Brain abnormalities, neurodegeneration, and dysosteosclerosis	Pathogenic (May 5, 2020)	criteria provided, single submitter
Select item 98711112.	NM_001288705.3(CSF1R):c.1649G>A (p.Trp550Ter) GRCh37: Chr5:149441390 GRCh38: Chr5:150061827	CSF1R	W402, W550	Brain abnormalities, neurodegeneration, and dysosteosclerosis, Leukoencephalopathy, diffuse hereditary, with spheroids 1	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 97640413.	NM_001288705.3(CSF1R):c.2517G>T (p.Trp839Cys) GRCh37: Chr5:149435626 GRCh38: Chr5:150056063	CSF1R	W691C, W839C	Brain abnormalities, neurodegeneration, and dysosteosclerosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 93057814.	NM_001288705.3(CSF1R):c.349G>A (p.Val117Met) GRCh37: Chr5:149459858 GRCh38: Chr5:150080295	CSF1R	V117M	Brain abnormalities, neurodegeneration, and dysosteosclerosis	Uncertain significance (Nov 4, 2019)	criteria provided, single submitter
Select item 93038715.	NM_001288705.3(CSF1R):c.1402G>T (p.Val468Leu) GRCh37: Chr5:149449544 GRCh38: Chr5:150069981	CSF1R	V320L, V468L	not provided, Brain abnormalities, neurodegeneration, and dysosteosclerosis	Uncertain significance (Jun 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63512516.	NM_001288705.3(CSF1R):c.1929C>A (p.His643Gln) GRCh37: Chr5:149440465 GRCh38: Chr5:150060902	CSF1R	H643Q, H495Q	not provided	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 63512417.	NM_001288705.3(CSF1R):c.1754-1G>C GRCh37: Chr5:149441159 GRCh38: Chr5:150061596	CSF1R		Brain abnormalities, neurodegeneration, and dysosteosclerosis	Pathogenic (Jun 21, 2019)	no assertion criteria provided
Select item 63512318.	NM_001288705.3(CSF1R):c.1969+115_1969+116del GRCh37: Chr5:149440309-149440310 GRCh38: Chr5:150060746-150060747	CSF1R		Brain abnormalities, neurodegeneration, and dysosteosclerosis	Pathogenic (Jun 21, 2019)	no assertion criteria provided
Select item 63512119.	NM_001288705.3(CSF1R):c.1859-119G>A GRCh37: Chr5:149440654 GRCh38: Chr5:150061091	CSF1R		not specified	Uncertain significance (Nov 22, 2022)	criteria provided, single submitter
Select item 63511920.	NM_001288705.3(CSF1R):c.395C>T (p.Pro132Leu) GRCh37: Chr5:149459812 GRCh38: Chr5:150080249	CSF1R	P132L	Brain abnormalities, neurodegeneration, and dysosteosclerosis	Pathogenic (Jun 21, 2019)	no assertion criteria provided
Select item 52069721.	NM_001288705.3(CSF1R):c.1441C>T (p.Gln481Ter) GRCh37: Chr5:149449505 GRCh38: Chr5:150069942	CSF1R	Q481, Q333	Hereditary diffuse leukoencephalopathy with spheroids, not provided, Inborn genetic diseases	Pathogenic (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45249522.	NM_001288705.3(CSF1R):c.1879_1881del (p.Lys627del) GRCh37: Chr5:149440513-149440515 GRCh38: Chr5:150060950-150060952	CSF1R	K627del, K479del	not provided	Uncertain significance (Sep 28, 2017)	criteria provided, single submitter
Select item 35217923.	NM_001288705.3(CSF1R):c.84T>C (p.Pro28=) GRCh37: Chr5:149460553 GRCh38: Chr5:150080990	CSF1R		Brain abnormalities, neurodegeneration, and dysosteosclerosis, Hereditary diffuse leukoencephalopathy with spheroids, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35217624.	NM_001288705.3(CSF1R):c.192C>T (p.Gly64=) GRCh37: Chr5:149460445 GRCh38: Chr5:150080882	CSF1R		Brain abnormalities, neurodegeneration, and dysosteosclerosis, Leukoencephalopathy, diffuse hereditary, with spheroids 1, not provided, Hereditary diffuse leukoencephalopathy with spheroids	Benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35216525.	NM_001288705.3(CSF1R):c.726C>T (p.Thr242=) GRCh37: Chr5:149457678 GRCh38: Chr5:150078115	CSF1R, LOC111188154		Brain abnormalities, neurodegeneration, and dysosteosclerosis, not provided, Hereditary diffuse leukoencephalopathy with spheroids	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35214226.	NM_001288705.3(CSF1R):c.1929C>T (p.His643=) GRCh37: Chr5:149440465 GRCh38: Chr5:150060902	CSF1R		not provided, Brain abnormalities, neurodegeneration, and dysosteosclerosis, Leukoencephalopathy, diffuse hereditary, with spheroids 1, Hereditary diffuse leukoencephalopathy with spheroids	Benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35212127.	NM_001288705.3(CSF1R):c.*35C>T GRCh37: Chr5:149433597 GRCh38: Chr5:150054034	CSF1R		Hereditary diffuse leukoencephalopathy with spheroids, Brain abnormalities, neurodegeneration, and dysosteosclerosis, not provided	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35212028.	NM_001288705.3(CSF1R):c.*36A>C GRCh37: Chr5:149433596 GRCh38: Chr5:150054033	CSF1R		Brain abnormalities, neurodegeneration, and dysosteosclerosis, not provided, Hereditary diffuse leukoencephalopathy with spheroids	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 3837829.	NM_001288705.3(CSF1R):c.2345G>A (p.Arg782His) GRCh37: Chr5:149435879 GRCh38: Chr5:150056316	CSF1R	R782H, R634H	Brain abnormalities, neurodegeneration, and dysosteosclerosis, Leukoencephalopathy, diffuse hereditary, with spheroids 1, not provided, Hereditary diffuse leukoencephalopathy with spheroids	Pathogenic/Likely pathogenic (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 29