ClinVar for Gene (Select 1487) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366613	NM_001012614.2(CTBP1):c.1058G>A (p.Ser353Asn)	CTBP1, CTBP1-AS (S353N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3363245	NM_001012614.2(CTBP1):c.861-1G>A	CTBP1, CTBP1-AS	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3361016	NM_001012614.2(CTBP1):c.904A>C (p.Thr302Pro)	CTBP1 (T302P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359669	NM_001012614.2(CTBP1):c.1269C>A (p.Asp423Glu)	CTBP1 (D423E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3341776	NM_001012614.2(CTBP1):c.1273G>A (p.Ala425Thr)	CTBP1, CTBP1-AS (A425T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3250772	NM_001012614.2(CTBP1):c.1257G>A (p.Glu419=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3239598	NM_001012614.2(CTBP1):c.162+314C>G	CTBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3234279	NM_001012614.2(CTBP1):c.162+141G>A	CTBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3078546	NM_001012614.2(CTBP1):c.763C>T (p.Arg255Trp)	CTBP1, CTBP1-AS (R266W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078545	NM_001012614.2(CTBP1):c.1153G>T (p.Ala385Ser)	CTBP1, CTBP1-AS (A385S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3064128	NM_001012614.2(CTBP1):c.263G>T (p.Gly88Val)	CTBP1 (G88V +1 more)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	GUncertain significance
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	GPathogenic
Select item 3062796	GRCh37/hg19 4p16.3(chr4:769757-2009467)x3	CPLX1, CRIPAK +20 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3057466	NM_001012614.2(CTBP1):c.1106+9G>A	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	CTBP1-related disorder	GLikely benign
Select item 3050853	NM_001012614.2(CTBP1):c.633C>G (p.Thr211=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	CTBP1-related disorder	GLikely benign
Select item 3035463	NM_001012614.2(CTBP1):c.1096G>A (p.Ala366Thr)	CTBP1, CTBP1-AS (A366T +1 more)	Single nucleotide variant (missense variant)	CTBP1-related disorder	GUncertain significance
Select item 3026330	NM_001012614.2(CTBP1):c.485G>A (p.Arg162His)	CTBP1 (R162H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025097	NM_001012614.2(CTBP1):c.162+159G>T	CTBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3025069	NM_001012614.2(CTBP1):c.465G>A (p.Ala155=)	CTBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MSANTD1, MSX1 +117 more	Copy number loss	not provided	GPathogenic
Select item 3007075	NM_001012614.2(CTBP1):c.515-8G>A	CTBP1, CTBP1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2984389	NM_001012614.2(CTBP1):c.-208C>T	CTBP1, LOC129991984	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2981156	NM_001012614.2(CTBP1):c.162+17G>C	CTBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972945	NM_001012614.2(CTBP1):c.988+20G>A	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966088	NM_001012614.2(CTBP1):c.730-11A>C	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962702	NM_001012614.2(CTBP1):c.860+11G>A	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960006	NM_001012614.2(CTBP1):c.861-20C>T	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958106	NM_001012614.2(CTBP1):c.989-16C>T	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909305	NM_001012614.2(CTBP1):c.162+5C>T	CTBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2900615	NM_001012614.2(CTBP1):c.597C>T (p.Gly199=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2899187	NM_001012614.2(CTBP1):c.1041C>T (p.Ala347=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892925	NM_001012614.2(CTBP1):c.1218G>A (p.Pro406=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2889750	NM_001012614.2(CTBP1):c.514+7C>T	CTBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889337	NM_001012614.2(CTBP1):c.1119C>T (p.Gly373=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2888943	NM_001012614.2(CTBP1):c.298G>A (p.Gly100Arg)	CTBP1 (G100R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888095	NM_001012614.2(CTBP1):c.1072G>A (p.Val358Ile)	CTBP1, CTBP1-AS (V358I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2872928	NM_001012614.2(CTBP1):c.-190T>G	CTBP1, LOC129991984	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2842548	NM_001012614.2(CTBP1):c.861-9T>C	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832699	NM_001012614.2(CTBP1):c.20C>T (p.Pro7Leu)	CTBP1 (P7L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2832615	NM_001012614.2(CTBP1):c.1150G>C (p.Ala384Pro)	CTBP1, CTBP1-AS (A395P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2832536	NM_001012614.2(CTBP1):c.364C>T (p.Leu122=)	CTBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813611	NM_001012614.2(CTBP1):c.51C>T (p.Pro17=)	CTBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805234	NM_001012614.2(CTBP1):c.622C>T (p.Arg208Cys)	CTBP1, CTBP1-AS (R208C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2792689	NM_001012614.2(CTBP1):c.1071CGT[3] (p.Val359_His360insVal)	CTBP1, CTBP1-AS	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2786551	NM_001012614.2(CTBP1):c.518G>A (p.Arg173His)	CTBP1, CTBP1-AS (R173H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2781089	NM_001012614.2(CTBP1):c.989-3C>T	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2762586	NM_001012614.2(CTBP1):c.-193G>C	CTBP1, LOC129991984	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2716052	NM_001012614.2(CTBP1):c.555C>T (p.Phe185=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2701365	NM_001012614.2(CTBP1):c.527A>G (p.Gln176Arg)	CTBP1, CTBP1-AS (Q187R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685953	GRCh37/hg19 4p16.3(chr4:444267-1325962)x3	ATP5ME, CPLX1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2685098	GRCh37/hg19 4p16.3(chr4:68346-2681414)x1	NELFA, NICOL1 +39 more	Copy number loss	not provided	GPathogenic
Select item 2672984	NM_001012614.2(CTBP1):c.162+296_162+330del	CTBP1	Deletion (intron variant)	not provided	GLikely benign
Select item 2672983	NM_001012614.2(CTBP1):c.854C>T (p.Pro285Leu)	CTBP1, CTBP1-AS (P285L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663616	NM_001012614.2(CTBP1):c.278A>G (p.Asn93Ser)	CTBP1 (N104S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654560	NM_001012614.2(CTBP1):c.25A>C (p.Met9Leu)	CTBP1 (M20L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654559	NM_001012614.2(CTBP1):c.131A>G (p.Asp44Gly)	CTBP1 (D44G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654558	NM_001012614.2(CTBP1):c.162+40G>A	CTBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2654557	NM_001012614.2(CTBP1):c.162+84C>T	CTBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2654556	NM_001012614.2(CTBP1):c.162+138G>C	CTBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2654555	NM_001012614.2(CTBP1):c.162+192C>T	CTBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2654554	NM_001012614.2(CTBP1):c.162+339T>G	CTBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2654553	NM_001012614.2(CTBP1):c.162+340C>T	CTBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2654552	NM_001012614.2(CTBP1):c.162+339_162+408del	CTBP1	Deletion (intron variant)	not provided	GLikely benign
Select item 2654551	NM_001012614.2(CTBP1):c.472G>A (p.Ala158Thr)	CTBP1 (A158T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654550	NM_001012614.2(CTBP1):c.576C>T (p.Tyr192=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654549	NM_001012614.2(CTBP1):c.860+7C>G	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2654548	NM_001012614.2(CTBP1):c.984C>T (p.Ile328=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654547	NM_001012614.2(CTBP1):c.1218G>C (p.Pro406=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654546	NM_001012614.2(CTBP1):c.1224C>T (p.His408=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	USP17L24, USP17L25 +132 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2578959	NM_001012614.2(CTBP1):c.162+282T>C	CTBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2575621	NM_001012614.2(CTBP1):c.1211C>T (p.Ala404Val)	CTBP1, CTBP1-AS (A404V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2574972	NM_001012614.2(CTBP1):c.487G>A (p.Gly163Arg)	CTBP1 (G163R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2571198	NM_001012614.2(CTBP1):c.162+176A>T	CTBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2535845	NM_001012614.2(CTBP1):c.688G>A (p.Glu230Lys)	CTBP1, CTBP1-AS (E230K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531697	NM_001012614.2(CTBP1):c.293C>G (p.Ser98Trp)	CTBP1 (S109W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507296	NM_001012614.2(CTBP1):c.178G>A (p.Val60Met)	CTBP1 (V60M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502488	NM_001012614.2(CTBP1):c.782A>G (p.Glu261Gly)	CTBP1, CTBP1-AS (E261G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502143	NM_001012614.2(CTBP1):c.449A>G (p.Gln150Arg)	CTBP1 (Q150R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2496505	NM_001012614.2(CTBP1):c.1195G>A (p.Gly399Ser)	CTBP1, CTBP1-AS (G400S +3 more)	Single nucleotide variant (missense variant +1 more)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome +1 more	GUncertain significance
Select item 2441953	NM_001012614.2(CTBP1):c.541C>T (p.Arg181Trp)	CTBP1, CTBP1-AS (R181W +1 more)	Single nucleotide variant (missense variant +1 more)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	GUncertain significance
Select item 2441787	NM_001012614.2(CTBP1):c.580C>T (p.Pro194Ser)	CTBP1-AS, CTBP1 (P194S +1 more)	Single nucleotide variant (missense variant +1 more)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	GUncertain significance
Select item 2440599	NM_001012614.2(CTBP1):c.517C>T (p.Arg173Cys)	CTBP1, CTBP1-AS (R173C +1 more)	Single nucleotide variant (missense variant +1 more)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	GUncertain significance
Select item 2440598	NM_001012614.2(CTBP1):c.564C>T (p.Asn188=)	CTBP1-AS, CTBP1	Single nucleotide variant (synonymous variant +1 more)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	GUncertain significance
Select item 2440597	NM_001012614.2(CTBP1):c.411G>C (p.Gln137His)	CTBP1 (Q137H +1 more)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome +1 more	GUncertain significance
Select item 2440596	NM_001012614.2(CTBP1):c.1246G>A (p.Val416Ile)	CTBP1, CTBP1-AS (V416I +3 more)	Single nucleotide variant (missense variant +1 more)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome +1 more	GUncertain significance
Select item 2440595	NM_001012614.2(CTBP1):c.336G>A (p.Ala112=)	CTBP1	Single nucleotide variant (synonymous variant)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	GUncertain significance
Select item 2440594	NM_001012614.2(CTBP1):c.1075G>A (p.Val359Met)	CTBP1-AS, CTBP1 (V359M +1 more)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	GUncertain significance
Select item 2440593	NM_001012614.2(CTBP1):c.68A>G (p.Asp23Gly)	CTBP1 (D23G +1 more)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	GUncertain significance

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