MFAP5[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3353806	NM_003480.4(MFAP5):c.378dup (p.Leu127fs)	MFAP5 (L102fs +3 more)	Duplication (frameshift variant +2 more)	MFAP5-related disorder	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)	not provided +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 +1 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)	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)	Cardiovascular phenotype +1 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)	Cardiovascular phenotype +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)	not provided +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 specified +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
Select item 2700245	NM_003480.4(MFAP5):c.335+16A>C	MFAP5	Single nucleotide variant (intron variant)	not provided	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 1497841	NM_003480.4(MFAP5):c.335+5G>A	MFAP5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2880413	NM_003480.4(MFAP5):c.335+4A>G	MFAP5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2829992	NM_003480.4(MFAP5):c.335+3A>G	MFAP5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2764594	NM_003480.4(MFAP5):c.319C>T (p.Gln107Ter)	MFAP5 (Q97* +3 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 1944914	NM_003480.4(MFAP5):c.307C>G (p.Gln103Glu)	MFAP5 (Q103E +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1924906	NM_003480.4(MFAP5):c.301G>C (p.Val101Leu)	MFAP5 (V101L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 2803934	NM_003480.4(MFAP5):c.298_299inv (p.Pro100Gly)	MFAP5 (P78G +3 more)	Inversion (missense variant +2 more)	not provided	GUncertain significance
Select item 1608161	NM_003480.4(MFAP5):c.296G>A (p.Arg99Gln)	MFAP5 (R74Q +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +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)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2878282	NM_003480.4(MFAP5):c.293A>G (p.His98Arg)	MFAP5 (H76R +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2120353	NM_003480.4(MFAP5):c.292C>T (p.His98Tyr)	MFAP5 (H73Y +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2853383	NM_003480.4(MFAP5):c.291G>T (p.Val97=)	MFAP5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 1552735	NM_003480.4(MFAP5):c.273C>T (p.Cys91=)	MFAP5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 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 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 2780244	NM_003480.4(MFAP5):c.252C>G (p.Cys84Trp)	MFAP5 (C74W +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 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 1433539	NM_003480.4(MFAP5):c.248-3C>G	MFAP5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1565227	NM_003480.4(MFAP5):c.248-9C>T	MFAP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867842	NM_003480.4(MFAP5):c.248-10G>C	MFAP5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1662818	NM_003480.4(MFAP5):c.248-10G>A	MFAP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1929625	NM_003480.4(MFAP5):c.248-14T>C	MFAP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1585438	NM_003480.4(MFAP5):c.248-18dup	MFAP5	Duplication (intron variant)	not provided	GBenign
Select item 516747	NM_003480.4(MFAP5):c.248-18del	MFAP5	Deletion (intron variant)	not provided +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 1919454	NM_003480.4(MFAP5):c.247+13C>T	MFAP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915720	NM_003480.4(MFAP5):c.247+10T>C	MFAP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1961365	NM_003480.4(MFAP5):c.247+10T>G	MFAP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959079	NM_003480.4(MFAP5):c.247+1G>C	MFAP5	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2795855	NM_003480.4(MFAP5):c.247G>C (p.Glu83Gln)	MFAP5 (E83Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1965449	NM_003480.4(MFAP5):c.236dup (p.Asn79fs)	MFAP5 (N79fs)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
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 +3 more	GConflicting classifications of pathogenicity
Select item 3031134	NM_003480.4(MFAP5):c.234A>G (p.Lys78=)	MFAP5	Single nucleotide variant (synonymous variant +2 more)	MFAP5-related disorder	GLikely benign
Select item 1789536	NM_003480.4(MFAP5):c.231A>G (p.Glu77=)	MFAP5	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2955034	NM_003480.4(MFAP5):c.218-20A>G	MFAP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
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

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