ClinVar for MedGen (Select 3170) - ClinVar - NCBI

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Items: 9

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13889601.	NM_001429.4(EP300):c.7153C>T (p.Leu2385Phe) GRCh37: Chr22:41574868 GRCh38: Chr22:41178864	EP300	L2385F, L2359F	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Colorectal carcinoma	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 13270702.	NM_004655.4(AXIN2):c.1060-2A>G GRCh37: Chr17:63534463 GRCh38: Chr17:65538345	AXIN2		Oligodontia-cancer predisposition syndrome, Colorectal carcinoma	Likely pathogenic (Oct 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9477823.	NM_001429.4(EP300):c.832del (p.Thr278fs) GRCh37: Chr22:41521966 GRCh38: Chr22:41125962	EP300	T278fs	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Colorectal carcinoma	Pathogenic (Apr 11, 2019)	criteria provided, single submitter
Select item 8002694.	NM_001429.4(EP300):c.6311C>G (p.Pro2104Arg) GRCh37: Chr22:41574026 GRCh38: Chr22:41178022	EP300	P2078R, P2104R	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Colorectal carcinoma	Likely benign (Nov 7, 2018)	criteria provided, single submitter
Select item 7273445.	NM_001429.4(EP300):c.5598G>A (p.Pro1866=) GRCh37: Chr22:41573313 GRCh38: Chr22:41177309	EP300		not provided, Colorectal carcinoma, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Benign/Likely benign (Jun 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 7177716.	NM_001429.4(EP300):c.2568A>G (p.Ala856=) GRCh37: Chr22:41545953 GRCh38: Chr22:41149949	EP300		not provided, Colorectal carcinoma, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Benign (Nov 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 6557637.	NC_000022.11:g.(?_41154975)_(41164150_?)del GRCh37: Chr22:41550979-41560154 GRCh38: Chr22:41154975-41164150	EP300		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Colorectal cancer, Colorectal carcinoma, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 5748568.	NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter) GRCh37: Chr22:41568635 GRCh38: Chr22:41172631	EP300	R1529, R1503	Colorectal carcinoma, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, not provided	Pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4872289.	NM_001429.4(EP300):c.3684_3687del (p.Lys1228fs) GRCh37: Chr22:41558737-41558740 GRCh38: Chr22:41162733-41162736	EP300	K1228fs, K1202fs	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Colorectal carcinoma, not provided	Pathogenic (Sep 1, 2019)	criteria provided, multiple submitters, no conflicts