"Ambry Genetics"[submitter] AND "MFAP5"[gene] - ClinVar

Search results

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1483490	NM_003480.4(MFAP5):c.512A>G (p.Asn171Ser)	LOC126861443, MFAP5 (N107S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1745191	NM_003480.4(MFAP5):c.507A>G (p.Arg169=)	MFAP5, LOC126861443	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3223389	NM_003480.4(MFAP5):c.479C>T (p.Pro160Leu)	LOC126861443, MFAP5 (P135L +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1742814	NM_003480.4(MFAP5):c.474A>G (p.Arg158=)	LOC126861443, MFAP5	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2979299	NM_003480.4(MFAP5):c.473G>A (p.Arg158Gln)	LOC126861443, MFAP5 (R136Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1741704	NM_003480.4(MFAP5):c.458G>A (p.Arg153His)	LOC126861443, MFAP5 (R143H +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1741410	NM_003480.4(MFAP5):c.454C>A (p.Arg152Ser)	LOC126861443, MFAP5 (R127S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1741191	NM_003480.4(MFAP5):c.451C>T (p.Leu151Phe)	LOC126861443, MFAP5 (L87F +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2064845	NM_003480.4(MFAP5):c.446G>T (p.Arg149Met)	MFAP5, LOC126861443 (R124M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1555958	NM_003480.4(MFAP5):c.444T>G (p.Pro148=)	LOC126861443, MFAP5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 432223	NM_003480.4(MFAP5):c.442C>T (p.Pro148Ser)	LOC126861443, MFAP5 (P148S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1740457	NM_003480.4(MFAP5):c.441C>G (p.Pro147=)	LOC126861443, MFAP5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1739627	NM_003480.4(MFAP5):c.430G>T (p.Ala144Ser)	LOC126861443, MFAP5 (A119S +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1738891	NM_003480.4(MFAP5):c.422G>T (p.Arg141Leu)	MFAP5, LOC126861443 (R119L +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1738887	NM_003480.4(MFAP5):c.422G>A (p.Arg141His)	LOC126861443, MFAP5 (R116H +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1738815	NM_003480.4(MFAP5):c.421C>T (p.Arg141Cys)	LOC126861443, MFAP5 (R116C +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1738328	NM_003480.4(MFAP5):c.415C>T (p.Leu139Phe)	LOC126861443, MFAP5 (L117F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1736591	NM_003480.4(MFAP5):c.396C>T (p.His132=)	MFAP5	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2563101	NM_003480.4(MFAP5):c.395A>G (p.His132Arg)	MFAP5 (H110R +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
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 1736320	NM_003480.4(MFAP5):c.393A>T (p.Glu131Asp)	MFAP5 (E121D +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1736314	NM_003480.4(MFAP5):c.393A>G (p.Glu131=)	MFAP5	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 2625339	NM_003480.4(MFAP5):c.386G>A (p.Cys129Tyr)	MFAP5 (C104Y +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 3223388	NM_003480.4(MFAP5):c.365A>C (p.Glu122Ala)	MFAP5 (E100A +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1733384	NM_003480.4(MFAP5):c.362A>C (p.Lys121Thr)	MFAP5 (K111T +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1733197	NM_003480.4(MFAP5):c.360C>T (p.Asn120=)	MFAP5	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 973181	NM_003480.4(MFAP5):c.355G>A (p.Val119Ile)	MFAP5 (V119I +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2278171	NM_003480.4(MFAP5):c.354C>G (p.Ile118Met)	MFAP5 (I118M +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1732555	NM_003480.4(MFAP5):c.354C>A (p.Ile118=)	MFAP5	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 758213	NM_003480.4(MFAP5):c.354C>T (p.Ile118=)	MFAP5	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GLikely benign
Select item 1732454	NM_003480.4(MFAP5):c.353T>C (p.Ile118Thr)	MFAP5 (I93T +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 2448115	NM_003480.4(MFAP5):c.352A>G (p.Ile118Val)	MFAP5 (I108V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2867860	NM_003480.4(MFAP5):c.348G>A (p.Met116Ile)	MFAP5 (M106I +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 916405	NM_003480.4(MFAP5):c.343C>T (p.Arg115Cys)	MFAP5 (R93C +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 679567	NM_003480.4(MFAP5):c.341G>A (p.Arg114Gln)	MFAP5 (R89Q +3 more)	Single nucleotide variant (missense variant +2 more)	MFAP5-related condition +2 more	GLikely benign
Select item 432913	NM_003480.4(MFAP5):c.340C>T (p.Arg114Ter)	MFAP5 (R114* +3 more)	Single nucleotide variant (nonsense +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1954530	NM_003480.4(MFAP5):c.336-3C>T	MFAP5	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 668685	NM_003480.4(MFAP5):c.300G>A (p.Pro100=)	MFAP5	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1608161	NM_003480.4(MFAP5):c.296G>A (p.Arg99Gln)	MFAP5 (R74Q +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1798153	NM_003480.4(MFAP5):c.295C>T (p.Arg99Trp)	MFAP5 (R77W +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1796143	NM_003480.4(MFAP5):c.279G>T (p.Arg93Ser)	MFAP5 (R68S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2563098	NM_003480.4(MFAP5):c.271T>C (p.Cys91Arg)	MFAP5 (C81R +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1795036	NM_003480.4(MFAP5):c.270C>G (p.Thr90=)	MFAP5	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1794678	NM_003480.4(MFAP5):c.267T>C (p.Phe89=)	MFAP5	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1793926	NM_003480.4(MFAP5):c.261G>C (p.Glu87Asp)	MFAP5 (E62D +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1793617	NM_003480.4(MFAP5):c.259G>A (p.Glu87Lys)	MFAP5 (E87K +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1793506	NM_003480.4(MFAP5):c.258T>C (p.Asp86=)	MFAP5	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 451804	NM_003480.4(MFAP5):c.251G>A (p.Cys84Tyr)	MFAP5 (C84Y +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2625340	NM_003480.4(MFAP5):c.250T>G (p.Cys84Gly)	MFAP5 (C74G +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1586100	NM_003480.4(MFAP5):c.236A>T (p.Asn79Ile)	MFAP5 (N79I)	Single nucleotide variant (missense variant +2 more)	MFAP5-related condition +4 more	GConflicting classifications of pathogenicity
Select item 1789536	NM_003480.4(MFAP5):c.231A>G (p.Glu77=)	MFAP5	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
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 1782253	NM_003480.4(MFAP5):c.189T>A (p.Ala63=)	MFAP5	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely 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 1519037	NM_003480.4(MFAP5):c.172+1del	MFAP5	Deletion (splice donor variant)	not provided +1 more	GUncertain significance
Select item 390922	NM_003480.4(MFAP5):c.157G>A (p.Ala53Thr)	MFAP5 (A53T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1594940	NM_003480.4(MFAP5):c.156C>T (p.Pro52=)	MFAP5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1773542	NM_003480.4(MFAP5):c.147G>C (p.Val49=)	MFAP5	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1772686	NM_003480.4(MFAP5):c.143T>C (p.Leu48Pro)	MFAP5 (L36P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1771854	NM_003480.4(MFAP5):c.140-3C>A	MFAP5	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1771250	NM_003480.4(MFAP5):c.137C>T (p.Pro46Leu)	MFAP5 (P34L +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3125667	NM_003480.4(MFAP5):c.132A>C (p.Glu44Asp)	MFAP5 (E44D +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3223386	NM_003480.4(MFAP5):c.130G>C (p.Glu44Gln)	MFAP5 (E32Q +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2448113	NM_003480.4(MFAP5):c.112A>T (p.Thr38Ser)	MFAP5 (T26S +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2448114	NM_003480.4(MFAP5):c.111G>A (p.Ala37=)	MFAP5	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1788693	NM_003480.4(MFAP5):c.108A>G (p.Gln36=)	MFAP5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1768899	NM_003480.4(MFAP5):c.99T>C (p.Asp33=)	MFAP5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1767879	NM_003480.4(MFAP5):c.96C>T (p.Asp32=)	MFAP5	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1491794	NM_003480.4(MFAP5):c.89G>A (p.Arg30Gln)	MFAP5 (R30Q)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2448112	NM_003480.4(MFAP5):c.87A>G (p.Gln29=)	MFAP5	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 381192	NM_003480.4(MFAP5):c.59-4A>T	MFAP5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1375380	NM_003480.4(MFAP5):c.57T>C (p.Ser19=)	MFAP5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2563100	NM_003480.4(MFAP5):c.33T>A (p.Phe11Leu)	MFAP5 (F11L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2625341	NM_003480.4(MFAP5):c.30G>C (p.Leu10=)	MFAP5	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1787598	NM_003480.4(MFAP5):c.21G>A (p.Lys7=)	MFAP5	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1784146	NM_003480.4(MFAP5):c.19A>G (p.Lys7Glu)	MFAP5 (K7E)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1929615	NM_003480.4(MFAP5):c.14G>A (p.Gly5Glu)	MFAP5 (G5E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 390582	NM_003480.4(MFAP5):c.12G>A (p.Leu4=)	MFAP5	Single nucleotide variant (synonymous variant +1 more)	MFAP5-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1761590	NM_003480.4(MFAP5):c.7C>T (p.Leu3Phe)	MFAP5 (L3F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 388139	NM_003480.4(MFAP5):c.6G>A (p.Ser2=)	MFAP5	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1787609	NM_003480.4(MFAP5):c.-2-1G>A	MFAP5	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GUncertain significance

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Items: 81