"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CTBP1-AS"[ - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1675943	NM_001012614.2(CTBP1):c.1274C>A (p.Ala425Asp)	CTBP1, CTBP1-AS (A425D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	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)	not provided +1 more	GUncertain significance
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 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 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 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 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 730790	NM_001012614.2(CTBP1):c.988+7G>A	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1581371	NM_001012614.2(CTBP1):c.942C>T (p.Ile314=)	CTBP1-AS, CTBP1	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 2654549	NM_001012614.2(CTBP1):c.860+7C>G	CTBP1, CTBP1-AS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1591789	NM_001012614.2(CTBP1):c.849G>A (p.Ser283=)	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 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 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 1985866	NM_001012614.2(CTBP1):c.515-4C>T	CTBP1, CTBP1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign