ClinVar for MedGen (Select 1678789) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069042	NM_001288705.3(CSF1R):c.2549C>A (p.Ser850Ter)	CSF1R (S702* +1 more)	Single nucleotide variant (nonsense +1 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis	GPathogenic
Select item 3064487	NM_001288705.3(CSF1R):c.828C>G (p.Tyr276Ter)	CSF1R (Y128* +1 more)	Single nucleotide variant (nonsense +1 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis	GLikely pathogenic
Select item 2682172	NM_001288705.3(CSF1R):c.2809A>G (p.Ser937Gly)	CSF1R (S789G +1 more)	Single nucleotide variant (missense variant +1 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis	GUncertain significance
Select item 2443077	NM_001288705.3(CSF1R):c.69dup (p.Glu24fs)	CSF1R (E24fs)	Duplication (frameshift variant +2 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis	GLikely pathogenic
Select item 2441995	NM_001288705.3(CSF1R):c.604C>T (p.Pro202Ser)	CSF1R (P202S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis	GUncertain significance
Select item 2441972	NM_001288705.3(CSF1R):c.740C>T (p.Pro247Leu)	CSF1R (P247L +1 more)	Single nucleotide variant (missense variant +1 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis	GUncertain significance
Select item 1567619	NM_001288705.3(CSF1R):c.110C>T (p.Thr37Met)	CSF1R (T37M)	Single nucleotide variant (missense variant +2 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis +1 more	GConflicting classifications of pathogenicity
Select item 1530812	NM_001288705.3(CSF1R):c.1938C>T (p.Ile646=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1465714	NM_001288705.3(CSF1R):c.656C>A (p.Ala219Asp)	CSF1R, LOC111188154 (A219D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1420666	NM_001288705.3(CSF1R):c.2073G>C (p.Gln691His)	CSF1R (Q543H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1341872	NM_001288705.3(CSF1R):c.410G>T (p.Gly137Val)	CSF1R (G137V)	Single nucleotide variant (missense variant +2 more)	Hereditary diffuse leukoencephalopathy with spheroids +1 more	GUncertain significance
Select item 1328247	NM_001288705.3(CSF1R):c.1510+16C>T	CSF1R	Single nucleotide variant (intron variant)	Brain abnormalities, neurodegeneration, and dysosteosclerosis +2 more	GBenign
Select item 1255410	NM_001288705.3(CSF1R):c.2442+23C>T	CSF1R	Single nucleotide variant (intron variant)	Hereditary diffuse leukoencephalopathy with spheroids +2 more	GBenign
Select item 1236822	NM_001288705.3(CSF1R):c.2133-35G>C	CSF1R	Single nucleotide variant (intron variant)	Hereditary diffuse leukoencephalopathy with spheroids +2 more	GBenign
Select item 1029946	NM_001288705.3(CSF1R):c.1620T>A (p.Tyr540Ter)	CSF1R (Y392* +1 more)	Single nucleotide variant (nonsense +1 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis	GPathogenic
Select item 987111	NM_001288705.3(CSF1R):c.1649G>A (p.Trp550Ter)	CSF1R (W402* +1 more)	Single nucleotide variant (nonsense +1 more)	Leukoencephalopathy, diffuse hereditary, with spheroids 1 +1 more	GUncertain significance
Select item 976404	NM_001288705.3(CSF1R):c.2517G>T (p.Trp839Cys)	CSF1R (W691C +1 more)	Single nucleotide variant (missense variant +1 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis	GUncertain significance
Select item 930578	NM_001288705.3(CSF1R):c.349G>A (p.Val117Met)	CSF1R (V117M)	Single nucleotide variant (missense variant +2 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis +1 more	GUncertain significance
Select item 930387	NM_001288705.3(CSF1R):c.1402G>T (p.Val468Leu)	CSF1R (V320L +1 more)	Single nucleotide variant (missense variant +1 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis +1 more	GUncertain significance
Select item 635125	NM_001288705.3(CSF1R):c.1929C>A (p.His643Gln)	CSF1R (H643Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 635124	NM_001288705.3(CSF1R):c.1754-1G>C	CSF1R	Single nucleotide variant (splice acceptor variant)	Brain abnormalities, neurodegeneration, and dysosteosclerosis	GPathogenic
Select item 635123	NM_001288705.3(CSF1R):c.1969+115_1969+116del	CSF1R	Deletion (intron variant)	not provided	GPathogenic
Select item 635121	NM_001288705.3(CSF1R):c.1859-119G>A	CSF1R	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 635119	NM_001288705.3(CSF1R):c.395C>T (p.Pro132Leu)	CSF1R (P132L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 520697	NM_001288705.3(CSF1R):c.1441C>T (p.Gln481Ter)	CSF1R (Q481* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 452495	NM_001288705.3(CSF1R):c.1879_1881del (p.Lys627del)	CSF1R (K627del +1 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 352179	NM_001288705.3(CSF1R):c.84T>C (p.Pro28=)	CSF1R	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign
Select item 352176	NM_001288705.3(CSF1R):c.192C>T (p.Gly64=)	CSF1R	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GBenign
Select item 352165	NM_001288705.3(CSF1R):c.726C>T (p.Thr242=)	CSF1R, LOC111188154	Single nucleotide variant (synonymous variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids +2 more	GBenign
Select item 352142	NM_001288705.3(CSF1R):c.1929C>T (p.His643=)	CSF1R	Single nucleotide variant (synonymous variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids +4 more	GBenign
Select item 352121	NM_001288705.3(CSF1R):c.*35C>T	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 352120	NM_001288705.3(CSF1R):c.*36A>C	CSF1R	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 162128	NM_001288705.3(CSF1R):c.2350G>A (p.Val784Met)	CSF1R (V784M +1 more)	Single nucleotide variant (missense variant +1 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis	GLikely pathogenic
Select item 38378	NM_001288705.3(CSF1R):c.2345G>A (p.Arg782His)	CSF1R (R782H +1 more)	Single nucleotide variant (missense variant +1 more)	Brain abnormalities, neurodegeneration, and dysosteosclerosis +3 more	GPathogenic/Likely pathogenic

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Items: 34