ClinVar for Gene (Select 9532) - ClinVar

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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_016277.5(RAB23):c.*1494A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 911547	NM_016277.5(RAB23):c.*1534T>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 911546	NM_016277.5(RAB23):c.*1536T>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 911545	NM_016277.5(RAB23):c.*1706T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GLikely benign
Select item 910337	NM_016277.5(RAB23):c.*1740C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GBenign
Select item 910336	NM_016277.5(RAB23):c.*1817A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910335	NM_016277.5(RAB23):c.*2008G>A	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome +1 more	GUncertain significance
Select item 910334	NM_016277.5(RAB23):c.*2067A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910333	NM_016277.5(RAB23):c.*2245T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910332	NM_016277.5(RAB23):c.*2273T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GBenign
Select item 910331	NM_016277.5(RAB23):c.*2319T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 910330	NM_016277.5(RAB23):c.*2341C>A	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909448	NM_016277.5(RAB23):c.*677T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GLikely benign
Select item 909447	NM_016277.5(RAB23):c.*795G>A	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909372	NM_016277.5(RAB23):c.*2425G>A	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GBenign
Select item 909371	NM_016277.5(RAB23):c.*2485A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GBenign
Select item 909370	NM_016277.5(RAB23):c.*2586G>A	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909369	NM_016277.5(RAB23):c.*2681G>A	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909368	NM_016277.5(RAB23):c.*2753G>A	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909367	NM_016277.5(RAB23):c.*2769C>A	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909366	NM_016277.5(RAB23):c.*2876T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 909365	NM_016277.5(RAB23):c.*3033C>T	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 908592	NM_016277.5(RAB23):c.*850A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 908591	NM_016277.5(RAB23):c.*1052T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 908590	NM_016277.5(RAB23):c.*1131C>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 908522	NM_016277.5(RAB23):c.*3129G>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 908521	NM_016277.5(RAB23):c.*3189T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GLikely benign
Select item 908520	NM_016277.5(RAB23):c.*3298A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 908519	NM_016277.5(RAB23):c.*3330A>G	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)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 357633	NM_016277.5(RAB23):c.*722T>C	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 357632	NM_016277.5(RAB23):c.*735T>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GUncertain significance
Select item 357631	NM_016277.5(RAB23):c.*811G>A	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GBenign
Select item 357630	NM_016277.5(RAB23):c.*920C>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	Carpenter syndrome	GUncertain significance
Select item 357629	NM_016277.5(RAB23):c.*984G>A	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	RAB23-related Carpenter syndrome	GLikely benign
Select item 357628	NM_016277.5(RAB23):c.*1180ATCA[3]	BAG2, RAB23	Microsatellite (3 prime UTR variant +1 more)	Carpenter syndrome	GUncertain significance
Select item 357627	NM_016277.5(RAB23):c.*1251G>A	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 357626	NM_016277.5(RAB23):c.*1312A>G	BAG2, RAB23	Single nucleotide variant (3 prime UTR variant +1 more)	Carpenter syndrome +1 more	GLikely benign
Select item 357625	NM_016277.5(RAB23):c.1665_1667dup	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

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Links from Gene

Items: 53