ClinVar for MedGen (Select 322966) - ClinVar

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

Result Filters

Links from MedGen

Items: 21

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 11200411.	NM_000877.4(IL1R1):c.656-225A>G GRCh37: Chr2:102784833 GRCh38: Chr2:102168373	IL1R1		Ascending aortic dissection	association (Feb 1, 2021)	no assertion criteria provided
Select item 11200402.	NM_003854.4(IL1RL2):c.1678+1065T>C GRCh37: Chr2:102852802 GRCh38: Chr2:102236342	IL1RL2		Ascending aortic dissection	association (Feb 1, 2021)	no assertion criteria provided
Select item 11200393.	NM_000877.4(IL1R1):c.61+2273G>A GRCh37: Chr2:102776518 GRCh38: Chr2:102160058	IL1R1		Ascending aortic dissection	association (Feb 1, 2021)	no assertion criteria provided
Select item 11200384.	NM_016232.5(IL1RL1):c.1575T>C (p.Ser525=) GRCh37: Chr2:102968285 GRCh38: Chr2:102351825	IL1RL1		Ascending aortic dissection	association (Feb 1, 2021)	no assertion criteria provided
Select item 11200375.	NM_016232.5(IL1RL1):c.1286-583T>C GRCh37: Chr2:102967413 GRCh38: Chr2:102350953	IL1RL1		Ascending aortic dissection	association (Feb 1, 2021)	no assertion criteria provided
Select item 11200366.	NM_000877.4(IL1R1):c.61+1957C>T GRCh37: Chr2:102776202 GRCh38: Chr2:102159742	IL1R1		Ascending aortic dissection	association (Feb 1, 2021)	no assertion criteria provided
Select item 11200357.	NM_003048.6(SLC9A2):c.289+15331G>A GRCh37: Chr2:103251927 GRCh38: Chr2:102635468	SLC9A2		Ascending aortic dissection	association (Feb 1, 2021)	no assertion criteria provided
Select item 11200348.	NM_003854.4(IL1RL2):c.-12-281C>A GRCh37: Chr2:102804035 GRCh38: Chr2:102187575	IL1RL2		Ascending aortic dissection	association (Feb 1, 2021)	no assertion criteria provided
Select item 11200339.	NM_001011552.4(SLC9A4):c.363G>A (p.Ser121=) GRCh37: Chr2:103095404 GRCh38: Chr2:102478945	SLC9A4		Ascending aortic dissection	association (Feb 1, 2021)	no assertion criteria provided
Select item 112003210.	NM_016232.5(IL1RL1):c.-150+2865A>G GRCh37: Chr2:102930948 GRCh38: Chr2:102314488	IL1RL1		Ascending aortic dissection	association (Feb 1, 2021)	no assertion criteria provided
Select item 112003111.	NM_001011552.4(SLC9A4):c.256+2039C>T GRCh37: Chr2:103092513 GRCh38: Chr2:102476054	SLC9A4		Ascending aortic dissection	association (Feb 1, 2021)	no assertion criteria provided
Select item 112003012.	NM_003855.5(IL18R1):c.810-56C>A GRCh37: Chr2:103003265 GRCh38: Chr2:102386805	IL18R1		Ascending aortic dissection	association (Feb 1, 2021)	no assertion criteria provided
Select item 112002913.	NM_001011552.4(SLC9A4):c.2038+354T>G GRCh37: Chr2:103143159 GRCh38: Chr2:102526700	SLC9A4		Ascending aortic dissection	association (Feb 1, 2021)	no assertion criteria provided
Select item 112002814.	NM_001011552.4(SLC9A4):c.1488+592C>T GRCh37: Chr2:103125984 GRCh38: Chr2:102509525	SLC9A4		Ascending aortic dissection	association (Feb 1, 2021)	no assertion criteria provided
Select item 112002715.	NM_003855.5(IL18R1):c.302+1284C>T GRCh37: Chr2:102985812 GRCh38: Chr2:102369352	IL18R1		Ascending aortic dissection	association (Feb 1, 2021)	no assertion criteria provided
Select item 112002616.	NM_016232.5(IL1RL1):c.970+406C>A GRCh37: Chr2:102960281 GRCh38: Chr2:102343821	IL1RL1		Ascending aortic dissection	association (Feb 1, 2021)	no assertion criteria provided
Select item 112002517.	NM_001393487.1(IL18RAP):c.920+241T>A GRCh37: Chr2:103060024 GRCh38: Chr2:102443564	IL18RAP		Ascending aortic dissection	association (Feb 1, 2021)	no assertion criteria provided
Select item 112002418.	NM_001393487.1(IL18RAP):c.579+293T>C GRCh37: Chr2:103041167 GRCh38: Chr2:102424707	IL18RAP		Ascending aortic dissection	association (Feb 1, 2021)	no assertion criteria provided
Select item 112002319.	NM_016232.5(IL1RL1):c.1285+361G>A GRCh37: Chr2:102966067 GRCh38: Chr2:102349607	IL1RL1		Ascending aortic dissection	association (Feb 1, 2021)	no assertion criteria provided
Select item 69211020.	NM_005902.4(SMAD3):c.871+1G>A GRCh37: Chr15:67473792 GRCh38: Chr15:67181454	SMAD3		Ascending aortic dissection, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic/Likely pathogenic (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 37397621.	NM_000138.5(FBN1):c.7274A>G (p.Tyr2425Cys) GRCh37: Chr15:48717992 GRCh38: Chr15:48425795	FBN1	Y2425C	Polycystic liver disease 1, Ascending aortic dissection, Aortic dissection, Aortic dilatation	Likely pathogenic (Mar 7, 2016)	no assertion criteria provided

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 21