8076[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +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	GConflicting classifications of pathogenicity
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)	MFAP5-related disorder +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)	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 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)	MFAP5-related disorder +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 1650905	NM_003480.4(MFAP5):c.409+18T>C	MFAP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869922	NM_003480.4(MFAP5):c.401C>G (p.Ala134Gly)	MFAP5 (A112G +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 1934649	NM_003480.4(MFAP5):c.383T>C (p.Val128Ala)	MFAP5 (V128A +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 636624	NM_003480.4(MFAP5):c.382G>C (p.Val128Leu)	MFAP5 (V128L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 3005470	NM_003480.4(MFAP5):c.371G>A (p.Cys124Tyr)	MFAP5 (C124Y +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1474937	NM_003480.4(MFAP5):c.371G>C (p.Cys124Ser)	MFAP5 (C114S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2167614	NM_003480.4(MFAP5):c.367A>T (p.Ile123Phe)	MFAP5 (I101F +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2883422	NM_003480.4(MFAP5):c.364_366del (p.Glu122del)	MFAP5 (E112del +3 more)	Deletion (inframe_deletion +2 more)	not provided	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 2767464	NM_003480.4(MFAP5):c.360C>G (p.Asn120Lys)	MFAP5 (N110K +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 1718762	NM_003480.4(MFAP5):c.349T>C (p.Tyr117His)	MFAP5 (Y107H +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 2895952	NM_003480.4(MFAP5):c.344G>A (p.Arg115His)	MFAP5 (R115H +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	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)	not provided +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 disorder +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 3012447	NM_003480.4(MFAP5):c.336-8G>A	MFAP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 507380	NM_003480.4(MFAP5):c.336-9C>T	MFAP5	Single nucleotide variant (intron variant)	MFAP5-related disorder +1 more	GBenign/Likely benign
Select item 2018505	NM_003480.4(MFAP5):c.336-13G>A	MFAP5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2980228	NM_003480.4(MFAP5):c.336-15C>T	MFAP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933417	NM_003480.4(MFAP5):c.336-16A>C	MFAP5	Single nucleotide variant (intron variant)	not provided	GLikely 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 1548062	NM_003480.4(MFAP5):c.335+18G>A	MFAP5	Single nucleotide variant (intron variant)	not provided	GLikely benign

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