CHMP2B[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 176

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	ABHD6, ACOX2 +481 more	Copy number loss	See cases	GPathogenic
Select item 153529	GRCh38/hg38 3p13-11.1(chr3:73824871-90453699)x1	C3orf38, CADM2 +124 more	Copy number loss	See cases	GPathogenic
Select item 155598	GRCh38/hg38 3p12.3-11.1(chr3:74649382-89495681)x1	C3orf38, CADM2 +118 more	Copy number loss	See cases	GPathogenic
Select item 146400	GRCh38/hg38 3p12.3-11.1(chr3:76764260-89682935)x1	C3orf38, CADM2 +89 more	Copy number loss	See cases	GLikely pathogenic
Select item 57759	GRCh38/hg38 3p12.2-11.2(chr3:80320584-87468216)x3	CADM2, CADM2-AS1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 57802	GRCh38/hg38 3p12.2-11.1(chr3:82912987-90179222)x1	C3orf38, CADM2 +54 more	Copy number loss	See cases	GPathogenic
Select item 147525	GRCh38/hg38 3p12.1-11.2(chr3:86917979-87234450)x1	CHMP2B, LINC00506 +9 more	Copy number loss	See cases	GUncertain significance
Select item 346799	NM_014043.3(CHMP2B):c.-259C>A	CHMP2B, LOC129937085	Single nucleotide variant	Frontotemporal dementia	GUncertain significance
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 346801	NM_014043.4(CHMP2B):c.-151C>A	CHMP2B	Single nucleotide variant (5 prime UTR variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 +1 more	GBenign/Likely benign
Select item 901454	NM_014043.4(CHMP2B):c.-144C>T	CHMP2B	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 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 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 1705214	NM_014043.4(CHMP2B):c.2T>C (p.Met1Thr)	CHMP2B (M1T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1604555	NM_014043.4(CHMP2B):c.21G>A (p.Lys7=)	CHMP2B	Single nucleotide variant (5 prime UTR variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 97999	NM_014043.4(CHMP2B):c.27C>T (p.Thr9=)	CHMP2B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 1508277	NM_014043.4(CHMP2B):c.28G>A (p.Val10Met)	CHMP2B (V10M)	Single nucleotide variant (5 prime UTR variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1716890	NM_014043.4(CHMP2B):c.32A>T (p.Asp11Val)	CHMP2B (D11V +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 2947789	NM_014043.4(CHMP2B):c.34+6T>C	CHMP2B	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 744776	NM_014043.4(CHMP2B):c.34+7T>A	CHMP2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 346804	NM_014043.4(CHMP2B):c.34+8C>T	CHMP2B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2933304	NM_014043.4(CHMP2B):c.34+14C>G	CHMP2B	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 447033	NM_014043.4(CHMP2B):c.35-9T>G	CHMP2B	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 704275	NM_014043.4(CHMP2B):c.35-7C>T	CHMP2B	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 +2 more	GBenign/Likely benign
Select item 902088	NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln)	CHMP2B (R19Q)	Single nucleotide variant (missense variant +1 more)	CHMP2B-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 704339	NM_014043.4(CHMP2B):c.64C>T (p.Arg22Ter)	CHMP2B (R22*)	Single nucleotide variant (nonsense +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 +2 more	GConflicting classifications of pathogenicity
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 2038146	NM_014043.4(CHMP2B):c.71C>T (p.Thr24Ile)	CHMP2B (T24I +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 2933601	NM_014043.4(CHMP2B):c.82A>G (p.Ile28Val)	CHMP2B (I60V +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
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 1048977	NM_014043.4(CHMP2B):c.88A>G (p.Arg30Gly)	CHMP2B (R30G)	Single nucleotide variant (missense variant +1 more)	CHMP2B-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1434414	NM_014043.4(CHMP2B):c.90A>C (p.Arg30Ser)	CHMP2B (R30S)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 2682836	NM_014043.4(CHMP2B):c.91G>A (p.Asp31Asn)	CHMP2B (D31N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1210544	NM_014043.4(CHMP2B):c.94C>T (p.Arg32Ter)	CHMP2B (R32*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 786504	NM_014043.4(CHMP2B):c.111A>G (p.Lys37=)	CHMP2B	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2932285	NM_014043.4(CHMP2B):c.114A>G (p.Gln38=)	CHMP2B	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 +1 more	GLikely benign
Select item 2635632	NM_014043.4(CHMP2B):c.122del (p.Gln41fs)	CHMP2B (Q41fs +1 more)	Deletion (frameshift variant +1 more)	CHMP2B-related disorder	GUncertain significance
Select item 1403282	NM_014043.4(CHMP2B):c.126+4A>G	CHMP2B	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1212705	NM_014043.4(CHMP2B):c.126+291_126+293del	CHMP2B	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1219754	NM_014043.4(CHMP2B):c.127-273dup	CHMP2B	Duplication (intron variant)	not provided	GLikely benign
Select item 1204980	NM_014043.4(CHMP2B):c.127-273del	CHMP2B	Deletion (intron variant)	not provided	GLikely benign
Select item 2173497	NM_014043.4(CHMP2B):c.127-7C>T	CHMP2B	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 2936387	NM_014043.4(CHMP2B):c.142A>G (p.Lys48Glu)	CHMP2B (K80E +2 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 447032	NM_014043.4(CHMP2B):c.155T>C (p.Ile52Thr)	CHMP2B (I52T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1301523	NM_014043.4(CHMP2B):c.157G>C (p.Gly53Arg)	CHMP2B (G12R +1 more)	Single nucleotide variant (missense variant)	Vascular dementia	GUncertain significance
Select item 712214	NM_014043.4(CHMP2B):c.163A>C (p.Lys55Gln)	CHMP2B (K14Q +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 2096563	NM_014043.4(CHMP2B):c.175A>G (p.Lys59Glu)	CHMP2B (K18E +2 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 +1 more	GUncertain significance
Select item 948982	NM_014043.4(CHMP2B):c.176A>G (p.Lys59Arg)	CHMP2B (K18R +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 2085044	NM_014043.4(CHMP2B):c.180T>G (p.Val60=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 1307577	NM_014043.4(CHMP2B):c.187A>G (p.Lys63Glu)	CHMP2B (K22E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 346805	NM_014043.4(CHMP2B):c.192A>G (p.Gln64=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 +1 more	GBenign/Likely benign
Select item 3144440	NM_014043.4(CHMP2B):c.196G>A (p.Val66Met)	CHMP2B (V98M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 902089	NM_014043.4(CHMP2B):c.202C>T (p.Leu68=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1385104	NM_014043.4(CHMP2B):c.205C>T (p.Arg69Trp)	CHMP2B (R28W +1 more)	Single nucleotide variant (missense variant)	CHMP2B-related disorder +1 more	GUncertain significance
Select item 872081	NM_014043.4(CHMP2B):c.206G>A (p.Arg69Gln)	CHMP2B (R28Q +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 +1 more	GConflicting classifications of pathogenicity
Select item 3144441	NM_014043.4(CHMP2B):c.215A>G (p.Lys72Arg)	CHMP2B (K104R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2073689	NM_014043.4(CHMP2B):c.216G>A (p.Lys72=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 346806	NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met)	CHMP2B (T73M +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1668858	NM_014043.4(CHMP2B):c.219G>A (p.Thr73=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 1624217	NM_014043.4(CHMP2B):c.234A>C (p.Val78=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 1430692	NM_014043.4(CHMP2B):c.248C>T (p.Thr83Ile)	CHMP2B (T83I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1716364	NM_014043.4(CHMP2B):c.253A>G (p.Met85Val)	CHMP2B (M117V +2 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1962709	NM_014043.4(CHMP2B):c.266_269del (p.Thr89fs)	CHMP2B (T48fs +1 more)	Microsatellite (frameshift variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 858063	NM_014043.4(CHMP2B):c.268A>G (p.Lys90Glu)	CHMP2B (K90E +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1477866	NM_014043.4(CHMP2B):c.287T>C (p.Met96Thr)	CHMP2B (M96T +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 2234840	NM_014043.4(CHMP2B):c.293T>C (p.Met98Thr)	CHMP2B (M130T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 98000	NM_014043.4(CHMP2B):c.312T>C (p.Thr104=)	CHMP2B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1636304	NM_014043.4(CHMP2B):c.315A>C (p.Thr105=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 1431140	NM_014043.4(CHMP2B):c.315A>G (p.Thr105=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 2501825	NM_014043.4(CHMP2B):c.321+1G>A	CHMP2B	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1361744	NM_014043.4(CHMP2B):c.321+3A>G	CHMP2B	Single nucleotide variant (intron variant)	CHMP2B-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2077387	NM_014043.4(CHMP2B):c.321+10A>C	CHMP2B	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 1253372	NM_014043.4(CHMP2B):c.321+247del	CHMP2B	Deletion (intron variant)	not provided	GBenign
Select item 1234580	NM_014043.4(CHMP2B):c.322-299del	CHMP2B	Deletion (intron variant)	not provided	GBenign
Select item 2628667	NM_014043.4(CHMP2B):c.323C>T (p.Thr108Ile)	CHMP2B (T108I +2 more)	Single nucleotide variant (missense variant)	CHMP2B-related disorder	GUncertain significance
Select item 1704723	NM_014043.4(CHMP2B):c.326T>C (p.Met109Thr)	CHMP2B (M109T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585669	NM_014043.4(CHMP2B):c.328C>A (p.Gln110Lys)	CHMP2B (Q110K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1392585	NM_014043.4(CHMP2B):c.339C>G (p.Asn113Lys)	CHMP2B (N72K +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1717146	NM_014043.4(CHMP2B):c.362C>T (p.Thr121Ile)	CHMP2B (T121I +2 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 346807	NM_014043.4(CHMP2B):c.364T>C (p.Leu122=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GBenign/Likely benign
Select item 98001	NM_014043.4(CHMP2B):c.372A>C (p.Thr124=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 +2 more	GBenign
Select item 2636665	NM_014043.4(CHMP2B):c.374T>C (p.Met125Thr)	CHMP2B (M125T +2 more)	Single nucleotide variant (missense variant)	CHMP2B-related disorder	GUncertain significance
Select item 1334873	NM_014043.4(CHMP2B):c.376C>T (p.Gln126Ter)	CHMP2B (Q126* +1 more)	Single nucleotide variant (nonsense)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2953727	NM_014043.4(CHMP2B):c.379A>G (p.Asn127Asp)	CHMP2B (N127D +2 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 2953763	NM_014043.4(CHMP2B):c.390G>A (p.Lys130=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 2165162	NM_014043.4(CHMP2B):c.408A>G (p.Glu136=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 1333969	NM_014043.4(CHMP2B):c.421A>G (p.Met141Val)	CHMP2B (M100V +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1333970	NM_014043.4(CHMP2B):c.423G>A (p.Met141Ile)	CHMP2B (M100I +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 1157453	NM_014043.4(CHMP2B):c.424+10A>G	CHMP2B	Single nucleotide variant (intron variant)	CHMP2B-related disorder +1 more	GLikely benign
Select item 1584830	NM_014043.4(CHMP2B):c.424+19_424+21del	CHMP2B	Deletion (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 2159742	NM_014043.4(CHMP2B):c.424+20A>C	CHMP2B	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 1269870	NM_014043.4(CHMP2B):c.424+111G>C	CHMP2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1491936	NM_014043.4(CHMP2B):c.427A>G (p.Asn143Asp)	CHMP2B (N102D +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 98002	NM_014043.4(CHMP2B):c.428A>G (p.Asn143Ser)	CHMP2B (N143S +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
Select item 2416817	NM_014043.4(CHMP2B):c.438TGA[1] (p.Asp148del)	CHMP2B (D107del +2 more)	Microsatellite (inframe_indel +1 more)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GUncertain significance
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 1132748	NM_014043.4(CHMP2B):c.453C>T (p.Asp151=)	CHMP2B	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	GLikely benign
Select item 3037318	NM_014043.4(CHMP2B):c.465C>T (p.Asp155=)	CHMP2B	Single nucleotide variant (synonymous variant)	CHMP2B-related disorder	GLikely benign

<< First< Prev

Page of 2