"Invitae"[submitter] AND "CTBP1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1979275	NM_001012614.2(CTBP1):c.1277G>A (p.Ser426Asn)	CTBP1, CTBP1-AS (S437N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1962020	NM_001012614.2(CTBP1):c.1272C>T (p.His424=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2191066	NM_001012614.2(CTBP1):c.1269C>T (p.Asp423=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 743627	NM_001012614.2(CTBP1):c.1260G>A (p.Ala420=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1946483	NM_001012614.2(CTBP1):c.1259C>T (p.Ala420Val)	CTBP1, CTBP1-AS (A420V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1534224	NM_001012614.2(CTBP1):c.1229C>T (p.Pro410Leu)	CTBP1, CTBP1-AS (P410L +3 more)	Single nucleotide variant (missense variant +1 more)	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 1635914	NM_001012614.2(CTBP1):c.1214A>T (p.His405Leu)	CTBP1-AS, CTBP1 (H405L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1926678	NM_001012614.2(CTBP1):c.1209G>T (p.Val403=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 750794	NM_001012614.2(CTBP1):c.1206T>A (p.Pro402=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	CTBP1-related condition +1 more	GBenign/Likely benign
Select item 741351	NM_001012614.2(CTBP1):c.1203C>G (p.Pro401=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2196843	NM_001012614.2(CTBP1):c.1194C>T (p.His398=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1531223	NM_001012614.2(CTBP1):c.1191C>A (p.Ser397=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2191912	NM_001012614.2(CTBP1):c.1188G>A (p.Leu396=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2155998	NM_001012614.2(CTBP1):c.1168G>A (p.Val390Ile)	CTBP1, CTBP1-AS (V390I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2832615	NM_001012614.2(CTBP1):c.1150G>C (p.Ala384Pro)	CTBP1-AS, CTBP1 (A395P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1994820	NM_001012614.2(CTBP1):c.1144A>G (p.Ile382Val)	CTBP1, CTBP1-AS (I382V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1964616	NM_001012614.2(CTBP1):c.1137C>T (p.Pro379=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1947438	NM_001012614.2(CTBP1):c.1125G>A (p.Val375=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1559543	NM_001012614.2(CTBP1):c.1122G>T (p.Val374=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1434331	NM_001012614.2(CTBP1):c.1120G>A (p.Val374Met)	CTBP1, CTBP1-AS (V386M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 735844	NM_001012614.2(CTBP1):c.1119C>A (p.Gly373=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2418107	NM_001012614.2(CTBP1):c.1116G>A (p.Pro372=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1999911	NM_001012614.2(CTBP1):c.1110C>T (p.Tyr370=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2100235	NM_001012614.2(CTBP1):c.1107-7C>A	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1646839	NM_001012614.2(CTBP1):c.1106+19C>T	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988022	NM_001012614.2(CTBP1):c.1106+12C>T	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2097922	NM_001012614.2(CTBP1):c.1101C>A (p.Ala367=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2015683	NM_001012614.2(CTBP1):c.1071CGT[1] (p.Val359del)	CTBP1, CTBP1-AS (V370del +1 more)	Microsatellite (inframe_deletion)	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	GLikely benign
Select item 732753	NM_001012614.2(CTBP1):c.1071C>T (p.Ala357=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1384107	NM_001012614.2(CTBP1):c.1069G>A (p.Ala357Thr)	CTBP1, CTBP1-AS (A368T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 756899	NM_001012614.2(CTBP1):c.1068C>T (p.Pro356=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2115521	NM_001012614.2(CTBP1):c.1065C>G (p.Asp355Glu)	CTBP1, CTBP1-AS (D366E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 784485	NM_001012614.2(CTBP1):c.1044C>T (p.Ala348=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182260	NM_001012614.2(CTBP1):c.1042G>A (p.Ala348Thr)	CTBP1, CTBP1-AS (A348T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1929480	NM_001012614.2(CTBP1):c.1038A>G (p.Thr346=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1934701	NM_001012614.2(CTBP1):c.1020C>G (p.Val340=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2104325	NM_001012614.2(CTBP1):c.1002C>T (p.Asp334=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 225758	NM_001012614.2(CTBP1):c.991C>T (p.Arg331Trp)	CTBP1-AS, CTBP1 (R331W +1 more)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome +2 more	GPathogenic
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 2192572	NM_001012614.2(CTBP1):c.989-6T>C	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1967641	NM_001012614.2(CTBP1):c.989-14C>T	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898885	NM_001012614.2(CTBP1):c.989-18_989-15del	CTBP1, CTBP1-AS	Microsatellite (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 2972945	NM_001012614.2(CTBP1):c.988+20G>A	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1598738	NM_001012614.2(CTBP1):c.988+19C>T	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1908539	NM_001012614.2(CTBP1):c.988+16G>A	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600978	NM_001012614.2(CTBP1):c.988+13G>A	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 730790	NM_001012614.2(CTBP1):c.988+7G>A	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2142331	NM_001012614.2(CTBP1):c.988+6C>T	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2127719	NM_001012614.2(CTBP1):c.968A>C (p.Glu323Ala)	CTBP1, CTBP1-AS (E323A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929638	NM_001012614.2(CTBP1):c.960G>A (p.Ala320=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1581371	NM_001012614.2(CTBP1):c.942C>T (p.Ile314=)	CTBP1-AS, CTBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2060987	NM_001012614.2(CTBP1):c.927C>T (p.Ser309=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1675944	NM_001012614.2(CTBP1):c.906C>T (p.Thr302=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant)	CTBP1-related condition +1 more	GLikely benign
Select item 2055726	NM_001012614.2(CTBP1):c.874C>T (p.Pro292Ser)	CTBP1, CTBP1-AS (P292S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716741	NM_001012614.2(CTBP1):c.861-4C>G	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2960006	NM_001012614.2(CTBP1):c.861-20C>T	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 2075359	NM_001012614.2(CTBP1):c.860+8dup	CTBP1, CTBP1-AS	Duplication (intron variant)	not provided	GBenign
Select item 2419353	NM_001012614.2(CTBP1):c.860+6C>T	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1986264	NM_001012614.2(CTBP1):c.860+5C>T	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1939493	NM_001012614.2(CTBP1):c.860+3G>A	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2013486	NM_001012614.2(CTBP1):c.859A>G (p.Ser287Gly)	CTBP1, CTBP1-AS (S298G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1591789	NM_001012614.2(CTBP1):c.849G>A (p.Ser283=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729463	NM_001012614.2(CTBP1):c.843C>T (p.His281=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant)	CTBP1-related condition +1 more	GLikely benign
Select item 2179199	NM_001012614.2(CTBP1):c.828G>A (p.Ala276=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927524	NM_001012614.2(CTBP1):c.826G>A (p.Ala276Thr)	CTBP1, CTBP1-AS (A276T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075829	NM_001012614.2(CTBP1):c.825C>T (p.Gly275=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 791968	NM_001012614.2(CTBP1):c.822C>T (p.Arg274=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1549657	NM_001012614.2(CTBP1):c.789G>A (p.Ala263=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1977165	NM_001012614.2(CTBP1):c.764G>A (p.Arg255Gln)	CTBP1, CTBP1-AS (R266Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2042933	NM_001012614.2(CTBP1):c.759A>G (p.Thr253=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1932892	NM_001012614.2(CTBP1):c.741G>T (p.Gly247=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916709	NM_001012614.2(CTBP1):c.730-10T>C	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 1926375	NM_001012614.2(CTBP1):c.729+13G>A	CTBP1, CTBP1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1529585	NM_001012614.2(CTBP1):c.721G>A (p.Val241Ile)	CTBP1, CTBP1-AS (V241I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 790389	NM_001012614.2(CTBP1):c.720C>T (p.Thr240=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 781977	NM_001012614.2(CTBP1):c.711C>T (p.Asn237=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	CTBP1-related condition +1 more	GBenign/Likely benign
Select item 1519340	NM_001012614.2(CTBP1):c.706A>C (p.Ile236Leu)	CTBP1, CTBP1-AS (I236L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2413578	NM_001012614.2(CTBP1):c.687C>T (p.Asn229=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2098989	NM_001012614.2(CTBP1):c.684C>A (p.Leu228=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1993203	NM_001012614.2(CTBP1):c.684C>T (p.Leu228=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 730672	NM_001012614.2(CTBP1):c.681C>T (p.Gly227=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2176965	NM_001012614.2(CTBP1):c.679G>A (p.Gly227Ser)	CTBP1, CTBP1-AS (G238S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2178599	NM_001012614.2(CTBP1):c.678C>T (p.Cys226=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2085755	NM_001012614.2(CTBP1):c.660C>T (p.Asp220=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2421384	NM_001012614.2(CTBP1):c.657C>T (p.Ser219=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2421722	NM_001012614.2(CTBP1):c.643C>A (p.Leu215Met)	CTBP1, CTBP1-AS (L215M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1949698	NM_001012614.2(CTBP1):c.636G>C (p.Leu212=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	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 2364506	NM_001012614.2(CTBP1):c.598G>A (p.Val200Met)	CTBP1, CTBP1-AS (V211M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 2191231	NM_001012614.2(CTBP1):c.590C>T (p.Ser197Leu)	CTBP1, CTBP1-AS (S208L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

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