ClinVar for MedGen (Select 863805) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2581013	NM_003480.4(MFAP5):c.264del (p.Lys88fs)	MFAP5 (K63fs +3 more)	Deletion (frameshift variant +2 more)	Aortic aneurysm, familial thoracic 9	GLikely pathogenic
Select item 1643524	NM_003480.4(MFAP5):c.94+18T>G	MFAP5	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1586100	NM_003480.4(MFAP5):c.236A>T (p.Asn79Ile)	MFAP5 (N79I)	Single nucleotide variant (missense variant +2 more)	Aortic aneurysm, familial thoracic 9 +4 more	GConflicting classifications of pathogenicity
Select item 1033583	NM_003480.4(MFAP5):c.2T>C (p.Met1Thr)	MFAP5 (M1T)	Single nucleotide variant (missense variant +2 more)	Aortic aneurysm, familial thoracic 9 +1 more	GConflicting classifications of pathogenicity
Select item 506515	NM_003480.4(MFAP5):c.195T>A (p.Ile65=)	MFAP5	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 432423	NM_003480.4(MFAP5):c.395A>T (p.His132Leu)	MFAP5 (H132L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 392223	NM_003480.4(MFAP5):c.410-18G>A	LOC126861443, MFAP5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 388139	NM_003480.4(MFAP5):c.6G>A (p.Ser2=)	MFAP5	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 381191	NM_003480.4(MFAP5):c.172+5A>G	MFAP5	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 9 +3 more	GBenign
Select item 162200	NM_003480.4(MFAP5):c.62G>T (p.Trp21Leu)	MFAP5 (W21L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 162199	NM_003480.4(MFAP5):c.472C>T (p.Arg158Ter)	LOC126861443, MFAP5 (R158* +4 more)	Single nucleotide variant (nonsense +1 more)	Isolated thoracic aortic aneurysm +2 more	GPathogenic/Likely pathogenic