NBK1199 AND genereviews[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21507	NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val)	CHMP2B (I29V)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 +1 more	GUncertain significance
Select item 35472	NM_014043.4(CHMP2B):c.311C>A (p.Thr104Asn)	CHMP2B (T104N +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GPathogenic
Select item 1653	NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr)	CHMP2B (D148Y +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1655	NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter)	CHMP2B (Q165* +1 more)	Single nucleotide variant (nonsense)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GPathogenic
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
Select item 21506	NM_014043.4(CHMP2B):c.556C>T (p.Arg186Ter)	CHMP2B (R186* +1 more)	Single nucleotide variant (nonsense)	CHMP2B-related disorder	GLikely benign
Select item 1654	NM_014043.4(CHMP2B):c.618A>C (p.Gln206His)	CHMP2B (Q206H +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GPathogenic

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