ClinVar for Gene (Select 1488) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 124

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3352964	NM_001329.4(CTBP2):c.58+11702A>C	CTBP2	Single nucleotide variant (synonymous variant +1 more)	CTBP2-related disorder	GLikely benign
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 3060667	NM_001329.4(CTBP2):c.58+12491A>G	CTBP2	Single nucleotide variant (synonymous 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 3060493	NM_001329.4(CTBP2):c.58+12925C>G	CTBP2	Single nucleotide variant (intron variant)	CTBP2-related disorder	GBenign
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 3059406	NM_001329.4(CTBP2):c.58+12412T>C	CTBP2 (L392P)	Single nucleotide variant (missense variant +1 more)	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 3059060	NM_001329.4(CTBP2):c.58+11937G>A	CTBP2 (V234M)	Single nucleotide variant (missense 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 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 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 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 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 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 3044034	NM_001329.4(CTBP2):c.58+11426C>T	CTBP2	Single nucleotide variant (synonymous 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 3042376	NM_001329.4(CTBP2):c.59-2109G>A	CTBP2 (G70R)	Single nucleotide variant (missense variant +1 more)	CTBP2-related disorder	GBenign
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 3039150	NM_001329.4(CTBP2):c.58+12191G>A	CTBP2	Single nucleotide variant (synonymous variant +1 more)	CTBP2-related disorder	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 3037773	NM_001329.4(CTBP2):c.59-2045C>T	CTBP2	Single nucleotide variant (intron variant)	CTBP2-related disorder	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 3037242	NM_001329.4(CTBP2):c.58+11883G>A	CTBP2 (E216K)	Single nucleotide variant (missense variant +1 more)	CTBP2-related disorder	GBenign
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 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
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 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 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
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 2640953	NM_001329.4(CTBP2):c.58+12100C>T	CTBP2 (T288I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2640952	NM_001329.4(CTBP2):c.492C>T (p.Ser164=)	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 2640950	NM_001329.4(CTBP2):c.819C>T (p.Gly273=)	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 2640948	NM_001329.4(CTBP2):c.900A>G (p.Ser300=)	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 2640946	NM_001329.4(CTBP2):c.1017C>T (p.Thr339=)	CTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
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 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 1808847	GRCh37/hg19 10q26.13-26.3(chr10:126662496-133985966)x3	ADAM12, BCCIP +24 more	Copy number gain	not provided	GUncertain significance
Select item 1707466	Single allele	BCCIP, CTBP2 +34 more	Duplication	not specified	GUncertain significance
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 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 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 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
Select item 1339509	NM_001329.4(CTBP2):c.22A>T (p.Lys8Ter)	CTBP2 (K8*)	Single nucleotide variant (nonsense)	not specified	GBenign
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1172570	GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1	FANK1, FGFR2 +79 more	Copy number loss	See cases	GPathogenic
Select item 1050373	NM_001329.4(CTBP2):c.1218C>A (p.Ile406=)	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 1048949	NM_001329.4(CTBP2):c.1217del (p.Ile406fs)	CTBP2 (I406fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 815379	GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	FGFR2, FOXI2 +95 more	Copy number gain	not provided	GPathogenic
Select item 785331	NM_001329.4(CTBP2):c.58+11873C>T	CTBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 779348	NM_001329.4(CTBP2):c.927G>A (p.Pro309=)	CTBP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 776551	NM_001329.4(CTBP2):c.1278G>A (p.Ala426=)	CTBP2	Single nucleotide variant (synonymous variant)	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 744440	NM_001329.4(CTBP2):c.58+12548C>T	CTBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	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 740023	NM_001329.4(CTBP2):c.58+12848G>A	CTBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 722660	NM_001329.4(CTBP2):c.58+11963C>T	CTBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	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 710607	NM_001329.4(CTBP2):c.58+12268G>A	CTBP2 (R344H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 707870	NM_001329.4(CTBP2):c.58+11621G>A	CTBP2	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 688100	GRCh37/hg19 10q26.13-26.3(chr10:124988334-135427143)x3	ABRAXAS2, ADAM12 +58 more	Copy number gain	not provided	GPathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 563799	GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3	ABRAXAS2, ACADSB +86 more	Copy number gain	not provided	GPathogenic
Select item 563798	GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1	ABRAXAS2, ACADSB +79 more	Copy number loss	not provided	GPathogenic
Select item 563797	GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1	ABRAXAS2, ACADSB +78 more	Copy number loss	not provided	GPathogenic
Select item 563796	GRCh37/hg19 10q26.13-26.3(chr10:125450893-135427143)x1	ABRAXAS2, ADAM12 +58 more	Copy number loss	not provided	GPathogenic
Select item 563778	GRCh37/hg19 10q26.13-26.2(chr10:126652011-128433378)x3	CTBP2, MMP21 +9 more	Copy number gain	not provided	GUncertain significance
Select item 563745	GRCh37/hg19 10q26.13(chr10:126319221-126733607)x3	ABRAXAS2, CTBP2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 395627	GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1	ABRAXAS2, ACADSB +73 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2