ClinVar for MedGen (Select 322966) - ClinVar

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Links from MedGen

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1120041	NM_000877.4(IL1R1):c.656-225A>G	IL1R1	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 1120040	NM_003854.4(IL1RL2):c.1678+1065T>C	IL1RL2	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 1120039	NM_000877.4(IL1R1):c.61+2273G>A	IL1R1	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 1120038	NM_016232.5(IL1RL1):c.1575T>C (p.Ser525=)	IL1RL1	Single nucleotide variant (synonymous variant)	Ascending aortic dissection	Gassociation
Select item 1120037	NM_016232.5(IL1RL1):c.1286-583T>C	IL1RL1	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 1120036	NM_000877.4(IL1R1):c.61+1957C>T	IL1R1	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 1120035	NM_003048.6(SLC9A2):c.289+15331G>A	SLC9A2	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 1120034	NM_003854.4(IL1RL2):c.-12-281C>A	IL1RL2	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 1120033	NM_001011552.4(SLC9A4):c.363G>A (p.Ser121=)	SLC9A4	Single nucleotide variant (synonymous variant)	Ascending aortic dissection	Gassociation
Select item 1120032	NM_016232.5(IL1RL1):c.-150+2865A>G	IL1RL1	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 1120031	NM_001011552.4(SLC9A4):c.256+2039C>T	SLC9A4	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 1120030	NM_003855.5(IL18R1):c.810-56C>A	IL18R1	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 1120029	NM_001011552.4(SLC9A4):c.2038+354T>G	SLC9A4	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 1120028	NM_001011552.4(SLC9A4):c.1488+592C>T	SLC9A4	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 1120027	NM_003855.5(IL18R1):c.302+1284C>T	IL18R1	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 1120026	NM_016232.5(IL1RL1):c.970+406C>A	IL1RL1	Single nucleotide variant (non-coding transcript variant +2 more)	Ascending aortic dissection	Gassociation
Select item 1120025	NM_001393487.1(IL18RAP):c.920+241T>A	IL18RAP	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 1120024	NM_001393487.1(IL18RAP):c.579+293T>C	IL18RAP	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 1120023	NM_016232.5(IL1RL1):c.1285+361G>A	IL1RL1	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 692110	NM_005902.4(SMAD3):c.871+1G>A	SMAD3	Single nucleotide variant (splice donor variant)	Ascending aortic dissection +1 more	GPathogenic
Select item 373976	NM_000138.5(FBN1):c.7274A>G (p.Tyr2425Cys)	FBN1 (Y2425C)	Single nucleotide variant (missense variant)	Polycystic liver disease 1 +3 more	GLikely pathogenic

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Links from MedGen

Items: 21