ClinVar for MedGen (Select 369554) - ClinVar - NCBI

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Items: 9

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 12536601.	NM_006265.3(RAD21):c.274+26GTT[5] GRCh37: Chr8:117875331-117875332 GRCh38: Chr8:116863092-116863093	RAD21		Mungan syndrome, not provided, Cornelia de Lange syndrome 4	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12063612.	NM_006265.3(RAD21):c.815-6_815-5del GRCh37: Chr8:117868532-117868533 GRCh38: Chr8:116856293-116856294	RAD21		Mungan syndrome, Cornelia de Lange syndrome 4, not provided, Cornelia de Lange syndrome 4	Benign/Likely benign (Sep 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12047463.	NM_006265.3(RAD21):c.815-27dup GRCh37: Chr8:117868531-117868532 GRCh38: Chr8:116856292-116856293	RAD21		Mungan syndrome, Cornelia de Lange syndrome 4, not provided	Likely benign (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5604154.	NM_006265.3(RAD21):c.1864G>A (p.Ala622Thr) GRCh37: Chr8:117859771 GRCh38: Chr8:116847532	RAD21	A622T	Mungan syndrome	Pathogenic (Dec 13, 2018)	criteria provided, single submitter
Select item 5221935.	NM_006265.3(RAD21):c.815-5del GRCh37: Chr8:117868532 GRCh38: Chr8:116856293	RAD21		Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4, Mungan syndrome, not provided	Benign/Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4458616.	NM_006265.3(RAD21):c.-32-1G>A GRCh37: Chr8:117879001 GRCh38: Chr8:116866762	RAD21		not provided, Cornelia de Lange syndrome 4, Mungan syndrome, not specified	Likely benign (Aug 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 3726197.	NM_006265.3(RAD21):c.1352T>G (p.Leu451Arg) GRCh37: Chr8:117864305 GRCh38: Chr8:116852066	RAD21	L451R	Mungan syndrome, Cornelia de Lange syndrome 4, Inborn genetic diseases, not provided, Cornelia de Lange syndrome 4	Conflicting interpretations of pathogenicity (Jun 5, 2022)	criteria provided, conflicting interpretations
Select item 1598088.	NM_006265.3(RAD21):c.688+8G>A GRCh37: Chr8:117869498 GRCh38: Chr8:116857259	RAD21		Mungan syndrome, not specified, Cornelia de Lange syndrome 4	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1598059.	NM_006265.3(RAD21):c.1440T>C (p.Ala480=) GRCh37: Chr8:117864217 GRCh38: Chr8:116851978	RAD21		Mungan syndrome, Cornelia de Lange syndrome 4, Inborn genetic diseases, not specified	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts