"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1210051	NM_004380.3(CREBBP):c.7282G>C (p.Gly2428Arg)	CREBBP (G2390R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499235	NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu)	CREBBP (M2221L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +3 more	GConflicting classifications of pathogenicity
Select item 95057	NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser)	CREBBP (N1978S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	Rubinstein-Taybi syndrome +3 more	GBenign/Likely benign
Select item 95056	NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)	CREBBP (A1907T +1 more)	Single nucleotide variant (missense variant)	CREBBP-related condition +5 more	GConflicting classifications of pathogenicity
Select item 158371	NM_004380.3(CREBBP):c.4280+8T>C	CREBBP	Single nucleotide variant (intron variant)	CREBBP-related condition +3 more	GConflicting classifications of pathogenicity
Select item 9433	NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)	CREBBP (E1278K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
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 1211662	NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu)	CREBBP (P911L +1 more)	Single nucleotide variant (missense variant)	CREBBP-related condition +5 more	GBenign/Likely benign
Select item 95036	NM_004380.3(CREBBP):c.2811G>A (p.Pro937=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related condition +4 more	GConflicting classifications of pathogenicity
Select item 30042	NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)	CREBBP (T910A +1 more)	Single nucleotide variant (missense variant)	not provided +4 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)	CREBBP-related condition +6 more	GBenign/Likely benign
Select item 95026	NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile)	CREBBP (L551I +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 975520	NM_004380.3(CREBBP):c.905G>A (p.Ser302Asn)	CREBBP (S302N)	Single nucleotide variant (missense variant)	CREBBP-related condition +2 more	GBenign/Likely benign
Select item 133930	NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys)	CREBBP (S128C)	Single nucleotide variant (missense variant)	CREBBP-related condition +3 more	GBenign/Likely benign