C4551859[trait identifier] AND "Equipe Genetique des Anomalies du Deve - ClinVar - NCBI

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

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1308633	NM_004380.3(CREBBP):c.6324C>G (p.Tyr2108Ter)	CREBBP (Y2070* +1 more)	Single nucleotide variant (nonsense)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 666309	NM_004380.3(CREBBP):c.5482_5484del (p.Tyr1828del)	CREBBP (Y1828del +1 more)	Deletion (inframe_deletion)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 559872	NM_004380.3(CREBBP):c.4436_4438del (p.Gly1479del)	CREBBP (G1479del +1 more)	Deletion (inframe_deletion)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 871518	NM_004380.3(CREBBP):c.3623dup (p.Gln1209fs)	CREBBP (Q1171fs +1 more)	Duplication (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +1 more	GPathogenic/Likely pathogenic
Select item 827801	NM_004380.3(CREBBP):c.3495_3575del (p.Trp1165_Val1192delinsCys)	CREBBP	Deletion (inframe_indel)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 689704	NM_004380.3(CREBBP):c.1585A>G (p.Met529Val)	CREBBP (M491V +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +2 more	GUncertain significance
Select item 694759	NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter)	CREBBP (R370*)	Single nucleotide variant (nonsense)	Corpus callosum, agenesis of +1 more	GPathogenic
Select item 2445209	Single allele	CREBBP, TRAP1	Deletion	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic