ClinVar for MedGen (Select 766662) - ClinVar - NCBI

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Items: 10

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24353871.	NM_005349.4(RBPJ):c.20C>A (p.Ser7Ter) GRCh37: Chr4:26322398 GRCh38: Chr4:26320776	RBPJ	S7*	Adams-Oliver syndrome 3	Uncertain significance (Jun 15, 2021)	criteria provided, single submitter
Select item 18055532.	NM_015874.6(RBPJ):c.140A>G (p.Tyr47Cys) GRCh37: Chr4:26407877 GRCh38: Chr4:26406255	LOC126807011, RBPJ	Y25C, Y45C, Y46C, Y47C, Y60C	Adams-Oliver syndrome 3	Uncertain significance (May 21, 2020)	criteria provided, single submitter
Select item 18037553.	NM_015874.6(RBPJ):c.155G>C (p.Arg52Thr) GRCh37: Chr4:26407892 GRCh38: Chr4:26406270	LOC126807011, RBPJ	R30T, R50T, R51T, R52T, R65T	Adams-Oliver syndrome 3	Likely pathogenic (Oct 31, 2022)	criteria provided, single submitter
Select item 16964694.	NM_015874.6(RBPJ):c.1375G>A (p.Glu459Lys) GRCh37: Chr4:26432540 GRCh38: Chr4:26430918	RBPJ	E405K, E420K, E437K, E458K, E459K, E472K	Adams-Oliver syndrome 3	Uncertain significance (Jun 23, 2021)	criteria provided, single submitter
Select item 13423785.	NM_015874.6(RBPJ):c.50G>A (p.Arg17Gln) GRCh37: Chr4:26388004 GRCh38: Chr4:26386382	RBPJ	R15Q, R16Q, R17Q, R30Q	not provided, Adams-Oliver syndrome 3	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5235886.	NM_015874.6(RBPJ):c.957C>A (p.Ser319Arg) GRCh37: Chr4:26431588 GRCh38: Chr4:26429966	RBPJ	S332R, S297R, S318R, S319R	Adams-Oliver syndrome 3	Likely pathogenic (Dec 1, 2017)	criteria provided, single submitter
Select item 5235877.	NM_015874.6(RBPJ):c.157T>G (p.Phe53Val) GRCh37: Chr4:26417098 GRCh38: Chr4:26415476	RBPJ	F66V, F31V, F51V, F52V, F53V	Adams-Oliver syndrome 3	Likely pathogenic (Dec 1, 2017)	criteria provided, single submitter
Select item 5235868.	NM_015874.6(RBPJ):c.154A>G (p.Arg52Gly) GRCh37: Chr4:26407891 GRCh38: Chr4:26406269	RBPJ, LOC126807011	R65G, R50G, R30G, R51G, R52G	Type II diabetes mellitus, Adams-Oliver syndrome 3	Likely pathogenic (May 28, 2019)	criteria provided, multiple submitters, no conflicts
Select item 370549.	NM_015874.6(RBPJ):c.466A>G (p.Lys156Glu) GRCh37: Chr4:26422317 GRCh38: Chr4:26420695	RBPJ	K169E, K154E, K156E, K155E, K134E	Adams-Oliver syndrome 3	Pathogenic (Aug 10, 2012)	no assertion criteria provided
Select item 3705310.	NM_015874.6(RBPJ):c.149A>G (p.Glu50Gly) GRCh37: Chr4:26407886 GRCh38: Chr4:26406264	LOC126807011, RBPJ	E63G, E48G, E28G, E49G, E50G	Adams-Oliver syndrome 3	Pathogenic (Aug 10, 2012)	no assertion criteria provided