2495[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 58820	GRCh38/hg38 10q26.13-26.2(chr10:122826743-126730948)x1	ABRAXAS2, ACADSB +164 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 58821	GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1	ABRAXAS2, ACADSB +182 more	Copy number loss	See cases	GPathogenic
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	ABRAXAS2, ADAM12 +311 more	Copy number loss	See cases	GPathogenic
Select item 147735	GRCh38/hg38 10q26.13-26.2(chr10:124032888-127368827)x3	ABRAXAS2, ADAM12 +117 more	Copy number gain	See cases	GPathogenic
Select item 146789	GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1	ABRAXAS2, ADAM12 +297 more	Copy number loss	See cases	GPathogenic
Select item 148580	GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	LOC130005026, LOC130005027 +257 more	Copy number loss	See cases	GPathogenic
Select item 1707466	Single allele	BCCIP, CTBP2 +34 more	Duplication	not specified	GUncertain significance
Select item 2257082	NM_017580.3(ZRANB1):c.2005C>T (p.Arg669Trp)	CTBP2, ZRANB1 (R669W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2399615	NM_017580.3(ZRANB1):c.2008C>T (p.Arg670Trp)	CTBP2, ZRANB1 (R670W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2556519	NM_017580.3(ZRANB1):c.2071C>T (p.Arg691Trp)	CTBP2, ZRANB1 (R691W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 776551	NM_001329.4(CTBP2):c.1278G>A (p.Ala426=)	CTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1050080	NM_001329.4(CTBP2):c.1220dup (p.Gly409fs)	CTBP2 (G409fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1050373	NM_001329.4(CTBP2):c.1218C>A (p.Ile406=)	CTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1048949	NM_001329.4(CTBP2):c.1217del (p.Ile406fs)	CTBP2 (I406fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2640946	NM_001329.4(CTBP2):c.1017C>T (p.Thr339=)	CTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640947	NM_001329.4(CTBP2):c.978T>C (p.Ser326=)	CTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2681218	NM_001329.4(CTBP2):c.942G>C (p.Pro314=)	CTBP2	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 779348	NM_001329.4(CTBP2):c.927G>A (p.Pro309=)	CTBP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2640948	NM_001329.4(CTBP2):c.900A>G (p.Ser300=)	CTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640949	NM_001329.4(CTBP2):c.849A>G (p.Gln283=)	CTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640950	NM_001329.4(CTBP2):c.819C>T (p.Gly273=)	CTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640951	NM_001329.4(CTBP2):c.807C>T (p.Asn269=)	CTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1696848	NM_022802.3(CTBP2):c.2287G>A (p.Val763Met)	CTBP2 (V223M +2 more)	Single nucleotide variant (missense variant)	Pulmonary artery atresia	GPathogenic
Select item 1696849	NM_022802.3(CTBP2):c.2165C>T (p.Thr722Met)	CTBP2 (T182M +2 more)	Single nucleotide variant (missense variant)	Pulmonary artery atresia	GPathogenic
Select item 2640952	NM_001329.4(CTBP2):c.492C>T (p.Ser164=)	CTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1696855	NM_001329.4(CTBP2):c.349G>A (p.Gly117Ser)	CTBP2 (G117S +2 more)	Single nucleotide variant (missense variant)	Pulmonary artery atresia	GPathogenic
Select item 3037773	NM_001329.4(CTBP2):c.59-2045C>T	CTBP2	Single nucleotide variant (intron variant)	CTBP2-related disorder	GLikely benign
Select item 3042376	NM_001329.4(CTBP2):c.59-2109G>A	CTBP2 (G70R)	Single nucleotide variant (missense variant +1 more)	CTBP2-related disorder	GBenign
Select item 3051217	NM_001329.4(CTBP2):c.59-2326C>T	CTBP2	Single nucleotide variant (5 prime UTR variant +1 more)	CTBP2-related disorder	GLikely benign
Select item 150776	GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	LOC126861090, LOC126861091 +250 more	Copy number loss	See cases	GPathogenic
Select item 3060493	NM_001329.4(CTBP2):c.58+12925C>G	CTBP2	Single nucleotide variant (intron variant)	CTBP2-related disorder	GBenign
Select item 3059384	NM_001329.4(CTBP2):c.58+12852C>G	CTBP2 (Q539E)	Single nucleotide variant (missense variant +1 more)	CTBP2-related disorder	GBenign
Select item 740023	NM_001329.4(CTBP2):c.58+12848G>A	CTBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3044948	NM_001329.4(CTBP2):c.58+12618G>A	CTBP2 (V461M)	Single nucleotide variant (missense variant +1 more)	CTBP2-related disorder	GLikely benign
Select item 3059822	NM_001329.4(CTBP2):c.58+12600T>C	CTBP2 (Y455H)	Single nucleotide variant (missense variant +1 more)	CTBP2-related disorder	GBenign
Select item 744440	NM_001329.4(CTBP2):c.58+12548C>T	CTBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3039180	NM_001329.4(CTBP2):c.58+12515G>A	CTBP2	Single nucleotide variant (synonymous variant +1 more)	CTBP2-related disorder	GBenign
Select item 3060667	NM_001329.4(CTBP2):c.58+12491A>G	CTBP2	Single nucleotide variant (synonymous variant +1 more)	CTBP2-related disorder	GBenign
Select item 722659	NM_001329.4(CTBP2):c.58+12475A>C	CTBP2 (H413P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3044663	NM_001329.4(CTBP2):c.58+12448G>A	CTBP2 (R404H)	Single nucleotide variant (missense variant +1 more)	CTBP2-related disorder	GLikely benign
Select item 776552	NM_001329.4(CTBP2):c.58+12441C>T	CTBP2 (P402S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3038072	NM_001329.4(CTBP2):c.58+12430G>T	CTBP2 (R398L)	Single nucleotide variant (missense variant +1 more)	CTBP2-related disorder	GBenign
Select item 3059406	NM_001329.4(CTBP2):c.58+12412T>C	CTBP2 (L392P)	Single nucleotide variant (missense variant +1 more)	CTBP2-related disorder	GBenign
Select item 3043467	NM_001329.4(CTBP2):c.58+12321G>C	CTBP2 (G362R)	Single nucleotide variant (missense variant +1 more)	CTBP2-related disorder	GLikely benign
Select item 710607	NM_001329.4(CTBP2):c.58+12268G>A	CTBP2 (R344H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3056442	NM_001329.4(CTBP2):c.58+12231G>A	CTBP2 (V332I)	Single nucleotide variant (missense variant +1 more)	CTBP2-related disorder	GLikely benign
Select item 3055717	NM_001329.4(CTBP2):c.58+12230T>G	CTBP2	Single nucleotide variant (synonymous variant +1 more)	CTBP2-related disorder	GLikely benign
Select item 3039150	NM_001329.4(CTBP2):c.58+12191G>A	CTBP2	Single nucleotide variant (synonymous variant +1 more)	CTBP2-related disorder	GBenign
Select item 3059058	NM_001329.4(CTBP2):c.58+12130G>A	CTBP2 (R298Q)	Single nucleotide variant (missense variant +1 more)	CTBP2-related disorder	GBenign
Select item 2640953	NM_001329.4(CTBP2):c.58+12100C>T	CTBP2 (T288I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3037436	NM_001329.4(CTBP2):c.58+12047C>T	CTBP2	Single nucleotide variant (synonymous variant +1 more)	CTBP2-related disorder	GBenign
Select item 722660	NM_001329.4(CTBP2):c.58+11963C>T	CTBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3059060	NM_001329.4(CTBP2):c.58+11937G>A	CTBP2 (V234M)	Single nucleotide variant (missense variant +1 more)	CTBP2-related disorder	GBenign
Select item 3037242	NM_001329.4(CTBP2):c.58+11883G>A	CTBP2 (E216K)	Single nucleotide variant (missense variant +1 more)	CTBP2-related disorder	GBenign
Select item 3060633	NM_001329.4(CTBP2):c.58+11874G>A	CTBP2 (D213N)	Single nucleotide variant (missense variant +1 more)	CTBP2-related disorder	GBenign
Select item 785331	NM_001329.4(CTBP2):c.58+11873C>T	CTBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 724682	NM_001329.4(CTBP2):c.58+11761_58+11762del	CTBP2 (Q175fs)	Deletion (frameshift variant +1 more)	not provided	GLikely benign
Select item 3352964	NM_001329.4(CTBP2):c.58+11702A>C	CTBP2	Single nucleotide variant (synonymous variant +1 more)	CTBP2-related disorder	GLikely benign
Select item 742465	NM_001329.4(CTBP2):c.58+11697C>T	CTBP2 (R154W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 748662	NM_001329.4(CTBP2):c.58+11688A>G	CTBP2 (M151V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 707870	NM_001329.4(CTBP2):c.58+11621G>A	CTBP2	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 2640954	NM_001329.4(CTBP2):c.58+11596T>A	CTBP2 (V120E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3055571	NM_001329.4(CTBP2):c.58+11546C>T	CTBP2	Single nucleotide variant (synonymous variant +1 more)	CTBP2-related disorder	GLikely benign
Select item 3053047	NM_001329.4(CTBP2):c.58+11458C>G	CTBP2 (A74G)	Single nucleotide variant (missense variant +1 more)	CTBP2-related disorder	GLikely benign
Select item 3044034	NM_001329.4(CTBP2):c.58+11426C>T	CTBP2	Single nucleotide variant (synonymous variant +1 more)	CTBP2-related disorder	GBenign
Select item 3356285	NM_001329.4(CTBP2):c.58+11362C>T	CTBP2 (T42M)	Single nucleotide variant (missense variant +1 more)	CTBP2-related disorder	GLikely benign
Select item 3036325	NM_001329.4(CTBP2):c.58+11243A>G	CTBP2	Single nucleotide variant (synonymous variant +1 more)	CTBP2-related disorder	GLikely benign
Select item 2681219	NM_001329.4(CTBP2):c.37C>T (p.Arg13Ter)	CTBP2 (R13*)	Single nucleotide variant (nonsense)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 1339509	NM_001329.4(CTBP2):c.22A>T (p.Lys8Ter)	CTBP2 (K8*)	Single nucleotide variant (nonsense)	not specified	GBenign
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 3063175	GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1	ABRAXAS2, ADAM12 +55 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063149	GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1	ABRAXAS2, ADAM12 +54 more	Copy number loss	not specified	GPathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2580338	GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	ABRAXAS2, ADAM12 +62 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	GLRX3, GPR26 +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 1808847	GRCh37/hg19 10q26.13-26.3(chr10:126662496-133985966)x3	ADAM12, BCCIP +24 more	Copy number gain	not provided	GUncertain significance
Select item 1527611	GRCh37/hg19 10q26.13(chr10:125920216-126732932)	ABRAXAS2, CTBP2 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1527609	GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)	FAM24A, FAM24B +80 more	Copy number loss	not specified	GPathogenic
Select item 1527608	GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)	ABRAXAS2, ACADSB +68 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic

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