"ITMI"[submitter] AND "CREBBP"[gene] - ClinVar

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

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133938	NM_004380.3(CREBBP):c.6956A>T (p.His2319Leu)	CREBBP (H2319L +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder +1 more	GUncertain significance
Select item 95065	NM_004380.3(CREBBP):c.6685G>A (p.Gly2229Ser)	CREBBP (G2229S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +3 more	GBenign/Likely benign
Select item 133940	NM_004380.3(CREBBP):c.6658G>A (p.Gly2220Ser)	CREBBP (G2220S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 133937	NM_004380.3(CREBBP):c.6524A>G (p.Asn2175Ser)	CREBBP (N2175S +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 133936	NM_004380.3(CREBBP):c.5967del (p.Thr1990fs)	CREBBP (T1952fs +1 more)	Deletion (frameshift variant)	not specified	Gnot provided
Select item 95057	NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser)	CREBBP (N1978S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +3 more	GBenign/Likely benign
Select item 133939	NM_004380.3(CREBBP):c.5770G>A (p.Val1924Met)	CREBBP (V1924M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 133928	NM_004380.3(CREBBP):c.3611A>T (p.Tyr1204Phe)	CREBBP (Y1204F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 133927	NM_004380.3(CREBBP):c.3199A>G (p.Ser1067Gly)	CREBBP (S1067G +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 95042	NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu)	CREBBP (S1043L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +5 more	GBenign/Likely benign
Select item 133926	NM_004380.3(CREBBP):c.3029C>T (p.Pro1010Leu)	CREBBP (P1010L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +1 more	GLikely benign
Select item 95040	NM_004380.3(CREBBP):c.2974G>A (p.Val992Ile)	CREBBP (V992I +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +3 more	GBenign
Select item 95037	NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr)	CREBBP (A981T +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +3 more	GBenign
Select item 133924	NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser)	CREBBP (T910S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 95035	NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu)	CREBBP (S893L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +5 more	GBenign/Likely benign
Select item 95034	NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser)	CREBBP (P858S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +3 more	GBenign/Likely benign
Select item 133925	NM_004380.3(CREBBP):c.2539C>A (p.Pro847Thr)	CREBBP (P847T +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GLikely benign
Select item 133945	NM_004380.3(CREBBP):c.2068G>T (p.Ala690Ser)	CREBBP (A690S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 133944	NM_004380.3(CREBBP):c.2050G>A (p.Ala684Thr)	CREBBP (A684T +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 95026	NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile)	CREBBP (L551I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 133941	NM_004380.3(CREBBP):c.1514C>T (p.Pro505Leu)	CREBBP (P505L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 133943	NM_004380.3(CREBBP):c.1446G>T (p.Gln482His)	CREBBP (Q482H +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133942	NM_004380.3(CREBBP):c.1399G>A (p.Ala467Thr)	CREBBP (A467T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 133935	NM_004380.3(CREBBP):c.964G>C (p.Val322Leu)	CREBBP (V322L)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133934	NM_004380.3(CREBBP):c.895A>G (p.Ser299Gly)	CREBBP (S299G)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +1 more	GLikely benign
Select item 133933	NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr)	CREBBP (A254T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 133930	NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys)	CREBBP (S128C)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 133929	NM_004380.3(CREBBP):c.346A>G (p.Ser116Gly)	CREBBP (S116G)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +1 more	GLikely benign
Select item 133932	NM_004380.3(CREBBP):c.293G>T (p.Gly98Val)	CREBBP (G98V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 133931	NM_004380.3(CREBBP):c.271G>A (p.Ala91Thr)	CREBBP (A91T)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 30