Related gene-specific medical variations for Gene (Select 25978) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2688776	NM_014043.4(CHMP2B):c.67G>A (p.Gly23Ser)	CHMP2B (G23S +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 2684154	NM_014043.4(CHMP2B):c.618A>T (p.Gln206His)	CHMP2B (Q165H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1340317	GRCh37/hg19 3p12.1-11.2(chr3:87158116-87306158)x1	CHMP2B	Copy number loss	not provided	GUncertain significance
Select item 901455	NM_014043.4(CHMP2B):c.-34G>A	CHMP2B, LOC129937086	Single nucleotide variant (5 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 346803	NM_014043.4(CHMP2B):c.-38C>T	CHMP2B, LOC129937086	Single nucleotide variant (5 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 346802	NM_014043.4(CHMP2B):c.-102C>T	CHMP2B, LOC129937086	Single nucleotide variant (5 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 +1 more	GBenign/Likely benign
Select item 346800	NM_014043.4(CHMP2B):c.-205C>T	CHMP2B, LOC129937085	Single nucleotide variant (5 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 21505	NM_014043.4(CHMP2B):c.532-1G>A	CHMP2B	Single nucleotide variant (splice acceptor variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Gnot provided