ClinVar for Gene (Select 9532) - ClinVar

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

Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062901	GRCh37/hg19 6p11.2(chr6:57012713-57283544)x1	BAG2, RAB23 +1 more	Copy number loss	not specified	GUncertain significance
Select item 2369780	NM_004282.4(BAG2):c.392C>T (p.Ala131Val)	BAG2 (A131V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304281	NM_004282.4(BAG2):c.364A>G (p.Asn122Asp)	BAG2 (N122D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257644	NM_004282.4(BAG2):c.92G>T (p.Ser31Ile)	BAG2 (S31I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809510	GRCh38/hg38 6p12.1-11.2(chr6:55755662-55874865)x2	LINC01564, LINC03001 +88 more	Copy number loss	Orofacial cleft	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527243	GRCh37/hg19 6p12.1-11.2(chr6:56993776-57052516)	BAG2, ZNF451	Copy number loss	not specified	GUncertain significance
Select item 911548	NM_004282.4(BAG2):c.*4777T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 911547	NM_004282.4(BAG2):c.*4737A>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 911546	NM_004282.4(BAG2):c.*4735A>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 911545	NM_004282.4(BAG2):c.*4565A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GLikely benign
Select item 910337	NM_004282.4(BAG2):c.*4531G>A	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GBenign
Select item 910336	NM_004282.4(BAG2):c.*4454T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910335	NM_004282.4(BAG2):c.*4263C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910334	NM_004282.4(BAG2):c.*4204T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910333	NM_004282.4(BAG2):c.*4026A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910332	NM_004282.4(BAG2):c.*3998A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GBenign
Select item 910331	NM_004282.4(BAG2):c.*3952A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910330	NM_004282.4(BAG2):c.*3930G>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909448	NM_004282.4(BAG2):c.*5594A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GLikely benign
Select item 909447	NM_004282.4(BAG2):c.*5476C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909372	NM_004282.4(BAG2):c.*3846C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GBenign
Select item 909371	NM_004282.4(BAG2):c.*3786T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GBenign
Select item 909370	NM_004282.4(BAG2):c.*3685C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909369	NM_004282.4(BAG2):c.*3590C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909368	NM_004282.4(BAG2):c.*3518C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909367	NM_004282.4(BAG2):c.*3502G>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909366	NM_004282.4(BAG2):c.*3395A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909365	NM_004282.4(BAG2):c.*3238G>A	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 908592	NM_004282.4(BAG2):c.*5421T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 908591	NM_004282.4(BAG2):c.*5219A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 908590	NM_004282.4(BAG2):c.*5140G>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 908522	NM_004282.4(BAG2):c.*3142C>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 908521	NM_004282.4(BAG2):c.*3082A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GLikely benign
Select item 908520	NM_004282.4(BAG2):c.*2973T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 908519	NM_004282.4(BAG2):c.*2941T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GBenign
Select item 809961	NM_004282.4(BAG2):c.222C>T (p.Asp74=)	BAG2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 357633	NM_004282.4(BAG2):c.*5549A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 357632	NM_004282.4(BAG2):c.*5536A>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 357631	NM_004282.4(BAG2):c.*5460C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GBenign
Select item 357630	NM_004282.4(BAG2):c.*5351G>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	Carpenter syndrome	GUncertain significance
Select item 357629	NM_004282.4(BAG2):c.*5287C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GLikely benign
Select item 357628	NM_004282.4(BAG2):c.*5084TGAT[3]	BAG2, RAB23	Microsatellite (3 prime UTR variant +1 more)	Carpenter syndrome	GUncertain significance
Select item 357627	NM_004282.4(BAG2):c.*5020C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	Carpenter syndrome	GUncertain significance
Select item 357626	NM_004282.4(BAG2):c.*4959T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	Carpenter syndrome	GLikely benign
Select item 357625	NM_004282.4(BAG2):c.4604_4606dup	BAG2, RAB23	Duplication (3 prime UTR variant +1 more)	Carpenter syndrome	GUncertain significance
Select item 148002	GRCh38/hg38 6p12.1-q12(chr6:53931543-68149750)x3	BAG2, BEND6 +147 more	Copy number gain	See cases	GPathogenic
Select item 146506	GRCh38/hg38 6p12.1-11.2(chr6:56639682-57432788)x3	BAG2, BEND6 +27 more	Copy number gain	See cases	GUncertain significance
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic
Select item 144369	GRCh38/hg38 6p12.1-11.2(chr6:56312924-57306212)x1	BAG2, BEND6 +28 more	Copy number loss	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 53