ClinVar for MedGen (Select 1802657) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690233	NM_024817.3(THSD4):c.2758G>A (p.Glu920Lys)	THSD4 (E560K +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 12	GUncertain significance
Select item 2584577	Single allele	THSD4, LOC121530590 +4 more	Copy number loss	Aortic aneurysm, familial thoracic 12	GLikely pathogenic
Select item 2320645	NM_024817.3(THSD4):c.620C>A (p.Ala207Asp)	THSD4 (A207D)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 12 +1 more	GUncertain significance
Select item 1699438	NM_024817.3(THSD4):c.2443C>T (p.Arg815Trp)	THSD4 (R455W +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 12 +1 more	GUncertain significance
Select item 1699175	NM_024817.3(THSD4):c.650A>G (p.Gln217Arg)	THSD4 (Q217R)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 12	GUncertain significance
Select item 1675225	NM_024817.3(THSD4):c.961T>A (p.Tyr321Asn)	THSD4 (Y321N)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 12	GPathogenic
Select item 1675224	NM_024817.3(THSD4):c.137_145dup (p.Asp46_Gly48dup)	THSD4	Duplication (inframe_insertion)	Aortic aneurysm, familial thoracic 12	GPathogenic
Select item 1675223	NM_024817.3(THSD4):c.1402del (p.Ala468fs)	THSD4 (A108fs +1 more)	Deletion (frameshift variant)	Aortic aneurysm, familial thoracic 12	GPathogenic
Select item 1675222	NM_024817.3(THSD4):c.2341C>T (p.Arg781Trp)	THSD4 (R781W +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 12	GPathogenic
Select item 1675221	NM_024817.3(THSD4):c.740del (p.Pro246_Leu247insTer)	THSD4	Deletion (nonsense)	Aortic aneurysm, familial thoracic 12	GPathogenic