LOC126861443[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	A2ML1, A2ML1-AS1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC130007649, LOC130007650 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	LOC124625919, LOC124625920 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	A2M, A2M-AS1 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC130007425, LOC130007426 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	WBP11, WNK1 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	PRB2, PRB3 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007339, LOC130007340 +698 more	Copy number gain	See cases	GPathogenic
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 1581063	NM_003480.4(MFAP5):c.519G>A (p.Leu173=)	LOC126861443, MFAP5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1959052	NM_003480.4(MFAP5):c.513T>A (p.Asn171Lys)	LOC126861443, MFAP5 (N107K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2843039	NM_003480.4(MFAP5):c.509C>T (p.Pro170Leu)	LOC126861443, MFAP5 (P170L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1977577	NM_003480.4(MFAP5):c.497del (p.Asp166fs)	LOC126861443, MFAP5 (D102fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
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 1367642	NM_003480.4(MFAP5):c.478C>T (p.Pro160Ser)	LOC126861443, MFAP5 (P160S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2973162	NM_003480.4(MFAP5):c.473G>T (p.Arg158Leu)	LOC126861443, MFAP5 (R136L +4 more)	Single nucleotide variant (missense variant +1 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
Select item 1522814	NM_003480.4(MFAP5):c.464A>G (p.Asn155Ser)	LOC126861443, MFAP5 (N130S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2055099	NM_003480.4(MFAP5):c.463A>G (p.Asn155Asp)	LOC126861443, MFAP5 (N130D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1946716	NM_003480.4(MFAP5):c.455G>A (p.Arg152His)	LOC126861443, MFAP5 (R152H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2912834	NM_003480.4(MFAP5):c.454C>T (p.Arg152Cys)	LOC126861443, MFAP5 (R130C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 1335097	NM_003480.4(MFAP5):c.449G>C (p.Arg150Thr)	LOC126861443, MFAP5 (R125T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1574830	NM_003480.4(MFAP5):c.441C>A (p.Pro147=)	LOC126861443, MFAP5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2014306	NM_003480.4(MFAP5):c.435T>A (p.Gly145=)	LOC126861443, MFAP5	Single nucleotide variant (synonymous variant +1 more)	not provided	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 1398718	NM_003480.4(MFAP5):c.428T>A (p.Met143Lys)	LOC126861443, MFAP5 (M79K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	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)	not provided +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 2868595	NM_003480.4(MFAP5):c.419G>A (p.Cys140Tyr)	LOC126861443, MFAP5 (C140Y +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1924913	NM_003480.4(MFAP5):c.415C>A (p.Leu139Ile)	LOC126861443, MFAP5 (L114I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2968102	NM_003480.4(MFAP5):c.412G>C (p.Glu138Gln)	LOC126861443, MFAP5 (E128Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2784180	NM_003480.4(MFAP5):c.410-6T>G	LOC126861443, MFAP5	Single nucleotide variant (intron variant)	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

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Items: 53