ClinVar for MedGen (Select 78544) - ClinVar - NCBI

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Items: 19

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 12799371.	NM_017617.5(NOTCH1):c.4668G>A (p.Trp1556Ter) GRCh37: Chr9:139399475 GRCh38: Chr9:136505023	NOTCH1	W1556*	Adams-Oliver syndrome	Pathogenic (Sep 16, 2021)	criteria provided, single submitter
Select item 5049262.	NM_020812.4(DOCK6):c.4576C>T (p.Arg1526Ter) GRCh37: Chr19:11322743 GRCh38: Chr19:11212067	DOCK6, DOCK6-AS1	R1526, R1561	not provided, Adams-Oliver syndrome	Pathogenic/Likely pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3427013.	NM_020754.4(ARHGAP31):c.*1533T>C GRCh37: Chr3:119136644 GRCh38: Chr3:119417797	ARHGAP31		Adams-Oliver syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 3426834.	NM_020754.4(ARHGAP31):c.*466C>T GRCh37: Chr3:119135577 GRCh38: Chr3:119416730	ARHGAP31		Adams-Oliver syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 3426735.	NM_020754.4(ARHGAP31):c.3953G>T (p.Gly1318Val) GRCh37: Chr3:119134729 GRCh38: Chr3:119415882	ARHGAP31	G1318V	Adams-Oliver syndrome, Inborn genetic diseases, not provided	Benign/Likely benign (Jan 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 3426286.	NM_020754.4(ARHGAP31):c.349-9_349-7del GRCh37: Chr3:119099738-119099740 GRCh38: Chr3:119380891-119380893	ARHGAP31		Adams-Oliver syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3426217.	NM_020754.4(ARHGAP31):c.-172CCCGCGG[3] GRCh37: Chr3:119013576-119013577 GRCh38: Chr3:119294729-119294730	ARHGAP31, LOC129937303		Adams-Oliver syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 2043768.	NM_019074.4(DLL4):c.583T>C (p.Phe195Leu) GRCh37: Chr15:41223889 GRCh38: Chr15:40931691	DLL4	F195L	Adams-Oliver syndrome	Pathogenic	criteria provided, single submitter
Select item 2043759.	NM_019074.4(DLL4):c.361G>C (p.Ala121Pro) GRCh37: Chr15:41222847 GRCh38: Chr15:40930649	DLL4	A121P	Adams-Oliver syndrome	Pathogenic	criteria provided, single submitter
Select item 20437410.	NM_019074.4(DLL4):c.799C>A (p.Pro267Thr) GRCh37: Chr15:41224594 GRCh38: Chr15:40932396	DLL4	P267T	Adams-Oliver syndrome 6, Adams-Oliver syndrome	Conflicting interpretations of pathogenicity (Dec 1, 2017)	criteria provided, conflicting interpretations
Select item 20437311.	NM_019074.4(DLL4):c.556C>T (p.Arg186Cys) GRCh37: Chr15:41223862 GRCh38: Chr15:40931664	DLL4	R186C	Adams-Oliver syndrome	Pathogenic	criteria provided, single submitter
Select item 20437212.	NM_019074.4(DLL4):c.1168T>C (p.Cys390Arg) GRCh37: Chr15:41227243 GRCh38: Chr15:40935045	DLL4	C390R	Adams-Oliver syndrome	Pathogenic	criteria provided, single submitter
Select item 20437113.	NM_019074.4(DLL4):c.1169G>A (p.Cys390Tyr) GRCh37: Chr15:41227244 GRCh38: Chr15:40935046	DLL4	C390Y	Adams-Oliver syndrome	Pathogenic	criteria provided, single submitter
Select item 20437014.	NM_019074.4(DLL4):c.1365C>G (p.Cys455Trp) GRCh37: Chr15:41228550 GRCh38: Chr15:40936352	DLL4	C455W	Adams-Oliver syndrome	Pathogenic	criteria provided, single submitter
Select item 20436915.	NM_019074.4(DLL4):c.1672C>T (p.Arg558Ter) GRCh37: Chr15:41228857 GRCh38: Chr15:40936659	DLL4	R558*	Adams-Oliver syndrome	Pathogenic	criteria provided, single submitter
Select item 20436816.	NM_019074.4(DLL4):c.1660C>T (p.Gln554Ter) GRCh37: Chr15:41228845 GRCh38: Chr15:40936647	DLL4	Q554*	Adams-Oliver syndrome	Pathogenic	criteria provided, single submitter
Select item 18333517.	NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs) GRCh37: Chr19:11353955-11353958 GRCh38: Chr19:11243279-11243282	DOCK6	T455fs	Adams-Oliver syndrome, Adams-Oliver syndrome 2	Pathogenic/Likely pathogenic (Dec 1, 2014)	no assertion criteria provided
Select item 13491418.	NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del) GRCh37: Chr9:139407932-139407934 GRCh38: Chr9:136513480-136513482	NOTCH1	N755del	Adams-Oliver syndrome 5, not provided, Familial thoracic aortic aneurysm and aortic dissection, Aortic valve disease 1	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 5581719.	NM_001278689.2(EOGT):c.1074del (p.Gly359fs) GRCh37: Chr3:69037455 GRCh38: Chr3:68988304	EOGT	G359fs	not provided, Adams-Oliver syndrome 4	Pathogenic (Oct 2, 2021)	criteria provided, multiple submitters, no conflicts