"GeneDx"[submitter] AND "MFAP5"[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1271604	NM_003480.4(MFAP5):c.*121T>C	LOC126861443, MFAP5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1318077	NM_003480.4(MFAP5):c.*14G>C	LOC126861443, MFAP5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1315729	NM_003480.4(MFAP5):c.*4T>C	LOC126861443, MFAP5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 517740	NM_003480.4(MFAP5):c.410-6T>C	LOC126861443, MFAP5	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
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 669640	NM_003480.4(MFAP5):c.410-283G>T	LOC126861443, MFAP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678014	NM_003480.4(MFAP5):c.409+186_409+187insCCTAAG	MFAP5	Insertion (intron variant)	not provided	GBenign
Select item 678013	NM_003480.4(MFAP5):c.409+184del	MFAP5	Deletion (intron variant)	not provided	GBenign
Select item 678012	NM_003480.4(MFAP5):c.409+180G>T	MFAP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293202	NM_003480.4(MFAP5):c.409+89C>T	MFAP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 432423	NM_003480.4(MFAP5):c.395A>T (p.His132Leu)	MFAP5 (H132L +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 451217	NM_003480.4(MFAP5):c.376C>T (p.Arg126Cys)	MFAP5 (R126C +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 679567	NM_003480.4(MFAP5):c.341G>A (p.Arg114Gln)	MFAP5 (R89Q +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 432913	NM_003480.4(MFAP5):c.340C>T (p.Arg114Ter)	MFAP5 (R114* +3 more)	Single nucleotide variant (nonsense +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 507380	NM_003480.4(MFAP5):c.336-9C>T	MFAP5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1290448	NM_003480.4(MFAP5):c.336-262T>C	MFAP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252216	NM_003480.4(MFAP5):c.335+242G>A	MFAP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250063	NM_003480.4(MFAP5):c.335+224G>A	MFAP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229310	NM_003480.4(MFAP5):c.335+136G>T	MFAP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 511715	NM_003480.4(MFAP5):c.335+20C>T	MFAP5	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 511523	NM_003480.4(MFAP5):c.335+12C>A	MFAP5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 513528	NM_003480.4(MFAP5):c.327C>T (p.Cys109=)	MFAP5	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 668685	NM_003480.4(MFAP5):c.300G>A (p.Pro100=)	MFAP5	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 451804	NM_003480.4(MFAP5):c.251G>A (p.Cys84Tyr)	MFAP5 (C84Y +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 516747	NM_003480.4(MFAP5):c.248-18del	MFAP5	Deletion (intron variant)	not specified +1 more	GBenign
Select item 1242593	NM_003480.4(MFAP5):c.248-50A>G	MFAP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229837	NM_003480.4(MFAP5):c.247+276G>A	MFAP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679831	NM_003480.4(MFAP5):c.247+157A>T	MFAP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678584	NM_003480.4(MFAP5):c.247+151T>C	MFAP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291814	NM_003480.4(MFAP5):c.247+121A>G	MFAP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317951	NM_003480.4(MFAP5):c.218-95G>A	MFAP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275582	NM_003480.4(MFAP5):c.218-285G>T	MFAP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297830	NM_003480.4(MFAP5):c.217+291_217+292dup	MFAP5	Duplication (intron variant)	not provided	GBenign
Select item 1282308	NM_003480.4(MFAP5):c.217+291_217+293dup	MFAP5	Duplication (intron variant)	not provided	GBenign
Select item 1286521	NM_003480.4(MFAP5):c.217+283T>C	MFAP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668293	NM_003480.4(MFAP5):c.217+19C>G	MFAP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 489194	NM_003480.4(MFAP5):c.217+1G>T	MFAP5	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 506515	NM_003480.4(MFAP5):c.195T>A (p.Ile65=)	MFAP5	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1293203	NM_003480.4(MFAP5):c.173-118A>G	MFAP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259862	NM_003480.4(MFAP5):c.173-311C>T	MFAP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222765	NM_003480.4(MFAP5):c.172+308C>T	MFAP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259010	NM_003480.4(MFAP5):c.172+268C>T	MFAP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244600	NM_003480.4(MFAP5):c.172+19dup	MFAP5	Duplication (intron variant)	not provided	GBenign
Select item 381191	NM_003480.4(MFAP5):c.172+5A>G	MFAP5	Single nucleotide variant (intron variant)	Cardiovascular phenotype +3 more	GBenign
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	GConflicting classifications of pathogenicity
Select item 515964	NM_003480.4(MFAP5):c.140-19T>C	MFAP5	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 674904	NM_003480.4(MFAP5):c.139+160G>A	MFAP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676402	NM_003480.4(MFAP5):c.139+29T>C	MFAP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516757	NM_003480.4(MFAP5):c.139+15_139+19del	MFAP5	Deletion (intron variant)	not specified +1 more	GBenign
Select item 489182	NM_003480.4(MFAP5):c.106C>T (p.Gln36Ter)	MFAP5 (Q36* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1317751	NM_003480.4(MFAP5):c.95-29C>T	MFAP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1297370	NM_003480.4(MFAP5):c.95-101A>C	MFAP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246772	NM_003480.4(MFAP5):c.95-204G>A	MFAP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283973	NM_003480.4(MFAP5):c.95-248_95-245dup	MFAP5	Duplication (intron variant)	not provided	GBenign
Select item 1317712	NM_003480.4(MFAP5):c.95-231_95-230del	MFAP5	Deletion (intron variant)	not provided	GLikely benign
Select item 1228993	NM_003480.4(MFAP5):c.95-230del	MFAP5	Deletion (intron variant)	not provided	GBenign
Select item 1259330	NM_003480.4(MFAP5):c.95-270C>T	MFAP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316740	NM_003480.4(MFAP5):c.94+279C>T	MFAP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679099	NM_003480.4(MFAP5):c.94+169T>C	MFAP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259819	NM_003480.4(MFAP5):c.94+113del	MFAP5	Deletion (intron variant)	not provided	GBenign
Select item 381192	NM_003480.4(MFAP5):c.59-4A>T	MFAP5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 674704	NM_003480.4(MFAP5):c.59-101A>T	MFAP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 510645	NM_003480.4(MFAP5):c.58+9T>C	MFAP5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 390582	NM_003480.4(MFAP5):c.12G>A (p.Leu4=)	MFAP5	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
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 511029	NM_003480.4(MFAP5):c.-3+20G>C	MFAP5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1236971	NM_003480.4(MFAP5):c.-66dup	MFAP5	Duplication (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1274164	NM_003480.4(MFAP5):c.-178G>C	MFAP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1280991	NC_000012.12:g.8662835A>G	MFAP5	Single nucleotide variant	not provided	GBenign
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 71