"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 373943	NM_004380.3(CREBBP):c.6244C>T (p.Gln2082Ter)	CREBBP (Q2082* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 523472	NM_004380.3(CREBBP):c.6185_6195del (p.Ile2062fs)	CREBBP (I2024fs +1 more)	Deletion (frameshift variant)	Synophrys +5 more	GLikely pathogenic
Select item 930275	NM_004380.3(CREBBP):c.6028G>A (p.Gly2010Arg)	CREBBP (G1972R +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +1 more	GUncertain significance
Select item 585288	NM_004380.3(CREBBP):c.5641_5642del (p.Leu1882fs)	CREBBP (L1844fs +1 more)	Microsatellite (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +1 more	GPathogenic
Select item 931510	NM_004380.3(CREBBP):c.5611A>C (p.Thr1871Pro)	CREBBP (T1833P +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 930913	NM_004380.3(CREBBP):c.3892T>C (p.Tyr1298His)	CREBBP (Y1298H +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 374025	NM_004380.3(CREBBP):c.3698G>A (p.Arg1233Lys)	CREBBP (R1233K +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +2 more	GLikely pathogenic
Select item 930966	NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met)	CREBBP (L815M +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +1 more	GConflicting classifications of pathogenicity
Select item 932109	NM_004380.3(CREBBP):c.2505G>A (p.Met835Ile)	CREBBP (M835I +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 931159	NM_004380.3(CREBBP):c.2505G>T (p.Met835Ile)	CREBBP (M835I +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +1 more	GUncertain significance
Select item 931917	NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr)	CREBBP (S807T +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 930619	NM_004380.3(CREBBP):c.668G>C (p.Gly223Ala)	CREBBP (G223A)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 546767	NM_004380.3(CREBBP):c.271G>T (p.Ala91Ser)	CREBBP (A91S)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +2 more	GConflicting classifications of pathogenicity
Select item 931686	NM_004380.3(CREBBP):c.62G>A (p.Gly21Asp)	CREBBP, LOC130058357 (G21D)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +1 more	GConflicting classifications of pathogenicity