"GeneDx"[submitter] AND "CTBP1"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57898	GRCh38/hg38 4p16.3(chr4:56878-2213205)x1	LOC129991962, LOC129991963 +137 more	Copy number loss	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 57873	GRCh38/hg38 4p16.3(chr4:56878-3870653)x1	CTBP1-AS, CTBP1-DT +278 more	Copy number loss	See cases	GPathogenic
Select item 57905	GRCh38/hg38 4p16.3(chr4:72555-3206313)x1	ADD1, ATP5ME +249 more	Copy number loss	See cases	GPathogenic
Select item 57904	GRCh38/hg38 4p16.3(chr4:72555-3785385)x1	LOC123466217, LOC123466218 +277 more	Copy number loss	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 145991	GRCh38/hg38 4p16.3(chr4:78578-3363219)x1	LOC129992097, LOC129992098 +256 more	Copy number loss	See cases	GPathogenic
Select item 59418	GRCh38/hg38 4p16.3(chr4:85149-2008535)x1	ATP5ME, CPLX1 +127 more	Copy number loss	See cases	GPathogenic
Select item 59417	GRCh38/hg38 4p16.3(chr4:85149-1919505)x1	ATP5ME, CPLX1 +124 more	Copy number loss	See cases	GPathogenic
Select item 57939	GRCh38/hg38 4p16.3(chr4:85149-4405782)x1	ADD1, ADRA2C +291 more	Copy number loss	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 more	Copy number loss	See cases	GPathogenic
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 3377930	NM_001012614.2(CTBP1):c.1207G>A (p.Val403Met)	CTBP1, CTBP1-AS (V403M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373187	NM_001012614.2(CTBP1):c.998C>T (p.Pro333Leu)	CTBP1, CTBP1-AS (P333L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 225758	NM_001012614.2(CTBP1):c.991C>T (p.Arg331Trp)	CTBP1, CTBP1-AS (R331W +1 more)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome +2 more	GPathogenic
Select item 1310676	NM_001012614.2(CTBP1):c.989G>C (p.Gly330Ala)	CTBP1, CTBP1-AS (G330A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373186	NM_001012614.2(CTBP1):c.989-1G>T	CTBP1, CTBP1-AS	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1698202	NM_001012614.2(CTBP1):c.893A>G (p.Asn298Ser)	CTBP1, CTBP1-AS (N298S +1 more)	Single nucleotide variant (missense variant)	not provided	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 1311795	NM_001012614.2(CTBP1):c.821G>A (p.Arg274His)	CTBP1, CTBP1-AS (R274H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196693	NM_001012614.2(CTBP1):c.788C>T (p.Ala263Val)	CTBP1, CTBP1-AS (A263V +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 1722883	NM_001012614.2(CTBP1):c.545C>T (p.Ala182Val)	CTBP1, CTBP1-AS (A182V +1 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 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 3367621	NM_001012614.2(CTBP1):c.430C>T (p.Arg144Ter)	CTBP1 (R144* +1 more)	Single nucleotide variant (nonsense)	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 3372912	NM_001012614.2(CTBP1):c.262G>A (p.Gly88Ser)	CTBP1 (G88S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723574	NM_001012614.2(CTBP1):c.249C>G (p.Ile83Met)	CTBP1 (I83M +1 more)	Single nucleotide variant (missense variant)	not provided	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 1800903	NM_001012614.2(CTBP1):c.163G>A (p.Val55Ile)	CTBP1 (V55I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 151687	GRCh38/hg38 4p16.3(chr4:1234663-1330963)x3	CTBP1, CTBP1-DT +10 more	Copy number gain	See cases	GLikely benign
Select item 1311392	NM_001012614.2(CTBP1):c.133_141del (p.Ala45_Ser47del)	CTBP1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 451754	NM_001012614.2(CTBP1):c.125T>C (p.Phe42Ser)	CTBP1 (F42S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378048	NM_001012614.2(CTBP1):c.121_122insTG (p.Ala41fs)	CTBP1 (A41fs +1 more)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2429628	NM_001012614.2(CTBP1):c.122C>T (p.Ala41Val)	CTBP1 (A41V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722799	NM_001012614.2(CTBP1):c.79T>G (p.Cys27Gly)	CTBP1 (C27G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426724	NM_001012614.2(CTBP1):c.74G>A (p.Arg25Gln)	CTBP1 (R25Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367324	NM_001012614.2(CTBP1):c.62T>C (p.Leu21Ser)	CTBP1 (L21S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368544	NM_001012614.2(CTBP1):c.47G>A (p.Arg16Gln)	CTBP1 (R16Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370951	NM_001012614.2(CTBP1):c.2T>C (p.Met1Thr)	CTBP1 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1314867	NM_001012614.2(CTBP1):c.-221G>C	CTBP1, LOC129991984 (S3T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 253666	GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3	ABLIM2, ACOX3 +89 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253474	GRCh37/hg19 4p16.3(chr4:1190911-2255904)x1	NSD2, FGFR3 +17 more	Copy number loss	See cases	GPathogenic
Select item 253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	BOD1L1, LDB2 +161 more	Copy number loss	See cases	GPathogenic
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

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Items: 49