ACAP1[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 144281	GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3	ACADVL, ACAP1 +106 more	Copy number gain	See cases	GUncertain significance
Select item 59582	GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1	ACADVL, ACAP1 +72 more	Copy number loss	See cases	GPathogenic
Select item 2395060	NM_014716.4(ACAP1):c.4A>T (p.Thr2Ser)	ACAP1 (T2S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384515	NM_014716.4(ACAP1):c.4A>G (p.Thr2Ala)	ACAP1 (T2A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617909	NM_014716.4(ACAP1):c.13C>G (p.Leu5Val)	ACAP1 (L5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375909	NM_014716.4(ACAP1):c.47G>A (p.Arg16His)	ACAP1 (R16H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380872	NM_014716.4(ACAP1):c.112C>G (p.Leu38Val)	ACAP1 (L38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135495	NM_014716.4(ACAP1):c.148C>T (p.Arg50Cys)	ACAP1 (R50C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261051	NM_014716.4(ACAP1):c.160G>A (p.Ala54Thr)	ACAP1 (A54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135516	NM_014716.4(ACAP1):c.173C>A (p.Ala58Asp)	ACAP1 (A58D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261062	NM_014716.4(ACAP1):c.188T>C (p.Ile63Thr)	ACAP1 (I63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507480	NM_014716.4(ACAP1):c.228G>A (p.Met76Ile)	ACAP1 (M76I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390536	NM_014716.4(ACAP1):c.265C>T (p.His89Tyr)	ACAP1 (H89Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592067	NM_014716.4(ACAP1):c.337G>A (p.Val113Ile)	ACAP1 (V113I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135554	NM_014716.4(ACAP1):c.352C>G (p.Arg118Gly)	ACAP1 (R118G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276334	NM_014716.4(ACAP1):c.374G>T (p.Arg125Leu)	ACAP1 (R125L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135560	NM_014716.4(ACAP1):c.439C>T (p.Arg147Cys)	ACAP1 (R147C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341445	NM_014716.4(ACAP1):c.581G>A (p.Arg194His)	ACAP1 (R194H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222499	NM_014716.4(ACAP1):c.633C>G (p.Ser211Arg)	ACAP1 (S211R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551820	NM_014716.4(ACAP1):c.662G>C (p.Gly221Ala)	ACAP1 (G221A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324364	NM_014716.4(ACAP1):c.709G>A (p.Asp237Asn)	ACAP1 (D237N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527865	NM_014716.4(ACAP1):c.760G>A (p.Glu254Lys)	ACAP1 (E254K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244840	NM_014716.4(ACAP1):c.833A>G (p.Asn278Ser)	ACAP1 (N278S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135461	NM_014716.4(ACAP1):c.1072A>T (p.Ser358Cys)	ACAP1 (S358C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135464	NM_014716.4(ACAP1):c.1099C>T (p.Arg367Cys)	ACAP1 (R367C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261059	NM_014716.4(ACAP1):c.1205G>T (p.Gly402Val)	ACAP1 (G402V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135469	NM_014716.4(ACAP1):c.1205G>C (p.Gly402Ala)	ACAP1 (G402A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590105	NM_014716.4(ACAP1):c.1210G>C (p.Val404Leu)	ACAP1 (V404L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135472	NM_014716.4(ACAP1):c.1213G>A (p.Gly405Arg)	ACAP1 (G405R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355667	NM_014716.4(ACAP1):c.1219G>A (p.Val407Met)	ACAP1 (V407M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135473	NM_014716.4(ACAP1):c.1220T>A (p.Val407Glu)	ACAP1 (V407E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352008	NM_014716.4(ACAP1):c.1220T>C (p.Val407Ala)	ACAP1 (V407A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2475022	NM_014716.4(ACAP1):c.1253C>A (p.Ala418Asp)	ACAP1 (A418D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241595	NM_014716.4(ACAP1):c.1333G>A (p.Gly445Ser)	ACAP1 (G445S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135483	NM_014716.4(ACAP1):c.1360T>C (p.Phe454Leu)	ACAP1 (F454L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263770	NM_014716.4(ACAP1):c.1382C>T (p.Thr461Ile)	ACAP1 (T461I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261043	NM_014716.4(ACAP1):c.1436T>A (p.Val479Asp)	ACAP1 (V479D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409433	NM_014716.4(ACAP1):c.1648C>T (p.Pro550Ser)	ACAP1 (P550S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135502	NM_014716.4(ACAP1):c.1651C>T (p.Arg551Trp)	ACAP1 (R551W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135506	NM_014716.4(ACAP1):c.1687T>A (p.Ser563Thr)	ACAP1, LOC130060134 (S563T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135510	NM_014716.4(ACAP1):c.1711C>T (p.Pro571Ser)	ACAP1, LOC130060134 (P571S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318083	NM_014716.4(ACAP1):c.1741C>T (p.His581Tyr)	ACAP1 (H581Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135522	NM_014716.4(ACAP1):c.1791T>G (p.Asp597Glu)	ACAP1 (D597E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204502	NM_014716.4(ACAP1):c.1811G>A (p.Gly604Asp)	ACAP1 (G604D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135530	NM_014716.4(ACAP1):c.1870G>A (p.Glu624Lys)	ACAP1 (E624K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532451	NM_014716.4(ACAP1):c.1888G>C (p.Gly630Arg)	ACAP1 (G630R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318084	NM_014716.4(ACAP1):c.1966G>T (p.Ala656Ser)	ACAP1 (A656S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135538	NM_014716.4(ACAP1):c.2026C>G (p.Pro676Ala)	ACAP1 (P676A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268602	NM_014716.4(ACAP1):c.2044G>C (p.Glu682Gln)	ACAP1 (E682Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261068	NM_014716.4(ACAP1):c.2095G>A (p.Glu699Lys)	ACAP1 (E699K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3243103	NC_000017.10:g.(?_7123304)_(7360042_?)del	ACADVL, ACAP1 +23 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3063511	GRCh37/hg19 17p13.1(chr17:7002380-7469251)x1	PHF23, PLSCR3 +32 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2498727	GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1	ACADVL, ACAP1 +48 more	Copy number loss	not provided	GPathogenic
Select item 2424768	NC_000017.10:g.(?_7123304)_(7606804_?)del	ACADVL, ACAP1 +40 more	Deletion	Common variable immunodeficiency	GUncertain significance
Select item 2423278	NC_000017.10:g.(?_7120455)_(8151423_?)del	ALOX12B, ALOX15B +66 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	ACADVL, ACAP1 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	ACADVL, ACAP1 +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 1526567	GRCh37/hg19 17p13.1(chr17:7241916-8692213)	ACAP1, ALOX12B +65 more	Copy number loss	not specified	GPathogenic
Select item 1526566	GRCh37/hg19 17p13.1(chr17:7020054-8086290)	ACADVL, ACAP1 +64 more	Copy number loss	not specified	GPathogenic
Select item 980124	GRCh37/hg19 17p13.1(chr17:7014481-7283233)x1	GPS2, NEURL4 +16 more	Copy number loss	not provided	GPathogenic
Select item 980123	GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3	TMEM102, TNFSF12 +74 more	Copy number gain	not provided	GPathogenic
Select item 831200	NC_000017.10:g.(?_6589506)_(8151374_?)dup	DNAH2, DVL2 +81 more	Duplication	Common variable immunodeficiency +1 more	GUncertain significance
Select item 815900	GRCh37/hg19 17p13.1(chr17:6800893-7304696)x1	ACADVL, ACAP1 +27 more	Copy number loss	not provided	GPathogenic
Select item 689270	GRCh37/hg19 17p13.1(chr17:6826243-7311408)x3	ACADVL, ACAP1 +28 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 562231	Single allele	ACADVL, ACAP1 +25 more	Duplication	Bilateral conductive hearing impairment +3 more	GLikely pathogenic
Select item 560047	Single allele	ACAP1, EIF5A +4 more	Duplication	not provided	GUncertain significance
Select item 523158	GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1	ACADVL, ACAP1 +75 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 442228	GRCh37/hg19 17p13.1(chr17:7094070-7414448)x1	ACADVL, ACAP1 +26 more	Copy number loss	See cases	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 82