ClinVar for Gene (Select 57587) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062801	GRCh37/hg19 4q35.1(chr4:184752570-186308447)x3	ACSL1, CASP3 +10 more	Copy number gain	not specified	GUncertain significance
Select item 3062775	GRCh37/hg19 4q34.1-35.1(chr4:175496275-186495932)x1	ACSL1, ADAM29 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062773	GRCh37/hg19 4q35.1(chr4:184577681-186368031)x3	ACSL1, ANKRD37 +16 more	Copy number gain	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	AADAT, ACSL1 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2684402	GRCh37/hg19 4q35.1(chr4:185978584-186403683)x3	ANKRD37, CCDC110 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684399	GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	AADAT, ACSL1 +69 more	Copy number gain	not provided	GPathogenic
Select item 2671582	Single allele	MTNR1A, PDLIM3 +36 more	Deletion	not provided	GPathogenic
Select item 2655210	NM_020827.3(CFAP97):c.1530G>A (p.Ala510=)	CFAP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617812	NM_020827.3(CFAP97):c.1399A>G (p.Asn467Asp)	CFAP97 (N467D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616166	NM_020827.3(CFAP97):c.1564C>T (p.Pro522Ser)	CFAP97 (P522S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613727	NM_020827.3(CFAP97):c.455C>G (p.Ala152Gly)	CFAP97 (A152G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612855	NM_020827.3(CFAP97):c.190C>G (p.Leu64Val)	CFAP97 (L64V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610301	NM_020827.3(CFAP97):c.751A>T (p.Thr251Ser)	CFAP97 (T251S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605908	NM_020827.3(CFAP97):c.1409A>G (p.Tyr470Cys)	CFAP97 (Y470C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594382	NM_020827.3(CFAP97):c.994G>C (p.Asp332His)	CFAP97 (D332H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568612	NM_020827.3(CFAP97):c.175A>G (p.Thr59Ala)	CFAP97 (T59A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558831	NM_020827.3(CFAP97):c.1022A>G (p.His341Arg)	CFAP97 (H341R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545782	NM_020827.3(CFAP97):c.1342G>A (p.Ala448Thr)	CFAP97 (A448T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521173	NM_020827.3(CFAP97):c.1184T>C (p.Leu395Ser)	CFAP97 (L395S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511140	NM_020827.3(CFAP97):c.874T>C (p.Tyr292His)	CFAP97 (Y292H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488940	NM_020827.3(CFAP97):c.1585A>T (p.Thr529Ser)	CFAP97 (T529S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470624	NM_020827.3(CFAP97):c.1535A>G (p.Asp512Gly)	CFAP97 (D512G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402750	NM_020827.3(CFAP97):c.269G>A (p.Ser90Asn)	CFAP97 (S90N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2400937	NM_020827.3(CFAP97):c.727C>T (p.His243Tyr)	CFAP97 (H243Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382779	NM_020827.3(CFAP97):c.1529C>T (p.Ala510Val)	CFAP97 (A510V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2374423	NM_020827.3(CFAP97):c.25G>A (p.Glu9Lys)	CFAP97 (E9K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359319	NM_020827.3(CFAP97):c.634T>C (p.Ser212Pro)	CFAP97 (S212P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347727	NM_020827.3(CFAP97):c.110A>G (p.Asn37Ser)	CFAP97 (N37S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347632	NM_020827.3(CFAP97):c.1059T>A (p.Phe353Leu)	CFAP97 (F353L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341072	NM_020827.3(CFAP97):c.131T>C (p.Ile44Thr)	CFAP97 (I44T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336364	NM_020827.3(CFAP97):c.1143A>C (p.Arg381Ser)	CFAP97 (R381S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330013	NM_020827.3(CFAP97):c.1523G>A (p.Arg508Gln)	CFAP97 (R508Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326594	NM_020827.3(CFAP97):c.217G>A (p.Val73Met)	CFAP97 (V73M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312796	NM_020827.3(CFAP97):c.1128C>G (p.Asn376Lys)	CFAP97 (N376K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307055	NM_020827.3(CFAP97):c.998A>G (p.His333Arg)	CFAP97 (H333R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288117	NM_020827.3(CFAP97):c.1094A>G (p.His365Arg)	CFAP97 (H365R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252340	NM_020827.3(CFAP97):c.1224A>C (p.Lys408Asn)	CFAP97 (K408N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216314	NM_020827.3(CFAP97):c.793C>T (p.Pro265Ser)	CFAP97 (P265S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213462	NM_020827.3(CFAP97):c.217G>C (p.Val73Leu)	CFAP97 (V73L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2212556	NM_020827.3(CFAP97):c.1372T>G (p.Ser458Ala)	CFAP97 (S458A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203939	NM_020827.3(CFAP97):c.466A>C (p.Thr156Pro)	CFAP97 (T156P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809138	GRCh37/hg19 4q35.1(chr4:186004963-186269925)x3	CFAP97, SLC25A4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808796	GRCh37/hg19 4q35.1(chr4:185935020-186237904)x3	CFAP97, HELT +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808331	GRCh37/hg19 4q35.1(chr4:185979170-186266573)x3	CFAP97, SLC25A4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807820	GRCh37/hg19 4q35.1-35.2(chr4:183694501-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 1807774	GRCh37/hg19 4q35.1-35.2(chr4:185748860-188413920)x1	ANKRD37, CCDC110 +16 more	Copy number loss	not provided	GPathogenic
Select item 1711166	GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1	AADAT, ACSL1 +69 more	Copy number loss	See cases	GPathogenic
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	AADAT, ACSL1 +93 more	Copy number loss	See cases	GPathogenic
Select item 1710924	GRCh37/hg19 4q35.1-35.2(chr4:185211271-190957473)x1	ACSL1, ANKRD37 +26 more	Copy number loss	See cases	GPathogenic
Select item 1704649	GRCh37/hg19 4q34.1-35.2(chr4:174944132-190957473)x1	ACSL1, ADAM29 +50 more	Copy number loss	FETAL DEMISE	GPathogenic
Select item 1527144	GRCh37/hg19 4q35.1-35.2(chr4:185978583-188762387)	KLKB1, LRP2BP +15 more	Copy number gain	not specified	GUncertain significance
Select item 1527143	GRCh37/hg19 4q35.1-35.2(chr4:185381293-190957473)	CFAP96, ANKRD37 +26 more	Copy number loss	not specified	GPathogenic
Select item 1527141	GRCh37/hg19 4q35.1-35.2(chr4:183221828-190957473)	ACSL1, ANKRD37 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527139	GRCh37/hg19 4q34.1-35.2(chr4:175855408-190957473)	ACSL1, ADAM29 +46 more	Copy number gain	not specified	GPathogenic
Select item 1527133	GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	AADAT, ACSL1 +86 more	Copy number gain	not specified	GPathogenic
Select item 1374349	NC_000004.11:g.(?_186064527)_(187630981_?)del	ANKRD37, CCDC110 +15 more	Deletion	not provided	GPathogenic
Select item 997081	GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678)	ACSL1, ANKRD37 +36 more	Copy number loss	Overgrowth +1 more	GLikely pathogenic
Select item 980716	GRCh37/hg19 4q35.1(chr4:185745161-186099203)x3	ACSL1, CFAP97 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814643	GRCh37/hg19 4q35.1(chr4:186008401-186265992)x3	CFAP97, SLC25A4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814642	GRCh37/hg19 4q35.1(chr4:185874622-186167917)x3	CFAP97, HELT +2 more	Copy number gain	not provided	GUncertain significance
Select item 814641	GRCh37/hg19 4q35.1-35.2(chr4:185785184-188207908)x3	ANKRD37, CCDC110 +16 more	Copy number gain	not provided	GUncertain significance
Select item 814640	GRCh37/hg19 4q35.1(chr4:185779167-186206723)x3	CFAP97, HELT +2 more	Copy number gain	not provided	GUncertain significance
Select item 814637	GRCh37/hg19 4q34.3-35.2(chr4:179752903-187987047)x3	ACSL1, ANKRD37 +32 more	Copy number gain	not provided	GPathogenic
Select item 814636	GRCh37/hg19 4q34.3-35.2(chr4:178566256-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 814622	GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1	AADAT, ACSL1 +79 more	Copy number loss	not provided	GPathogenic
Select item 809725	GRCh37/hg19 4q35.1-35.2(chr4:183245174-190948359)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 789580	NM_020827.3(CFAP97):c.1496C>T (p.Thr499Met)	CFAP97 (T499M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787979	NM_020827.3(CFAP97):c.1161C>T (p.Ile387=)	CFAP97	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780937	NM_020827.3(CFAP97):c.1149G>A (p.Glu383=)	CFAP97	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 729141	NM_020827.3(CFAP97):c.339C>T (p.His113=)	CFAP97	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689174	GRCh37/hg19 4q34.3-35.2(chr4:179996712-190957473)x1	ACSL1, ANKRD37 +37 more	Copy number loss	not provided	GPathogenic
Select item 688997	GRCh37/hg19 4q35.1(chr4:186031029-186490645)x3	ANKRD37, CCDC110 +7 more	Copy number gain	not provided	GUncertain significance
Select item 688505	GRCh37/hg19 4q35.1(chr4:185399884-186542127)x3	ACSL1, ANKRD37 +13 more	Copy number gain	not provided	GUncertain significance
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 686652	GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3	AGA, ANKRD37 +65 more	Copy number gain	not provided	GPathogenic
Select item 685560	GRCh37/hg19 4q34.2-35.2(chr4:177189906-190816266)x1	ACSL1, AGA +40 more	Copy number loss	not provided	GPathogenic
Select item 685477	GRCh37/hg19 4q35.1-35.2(chr4:184648532-190957473)x1	FAT1, FRG1 +28 more	Copy number loss	not provided	GPathogenic
Select item 685014	GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1	AADAT, ACSL1 +70 more	Copy number loss	not provided	GPathogenic
Select item 625785	GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545)	ACSL1, ADAM29 +48 more	Copy number loss	not provided	GPathogenic
Select item 625665	GRCh37/hg19 4q33-35.2(chr4:171663620-190431429)	ACSL1, ADAM29 +54 more	Copy number loss	not provided	GPathogenic
Select item 563008	GRCh37/hg19 4q35.1-35.2(chr4:185017749-190957473)x3	ACSL1, ANKRD37 +27 more	Copy number gain	not provided	GPathogenic
Select item 563006	GRCh37/hg19 4q34.3-35.2(chr4:178771936-190957473)x3	ACSL1, ANKRD37 +37 more	Copy number gain	not provided	GPathogenic
Select item 563004	GRCh37/hg19 4q34.2-35.2(chr4:176493246-190957473)x1	ACSL1, AGA +45 more	Copy number loss	not provided	GPathogenic
Select item 563003	GRCh37/hg19 4q34.1-35.2(chr4:175709188-190957473)x1	ACSL1, ADAM29 +47 more	Copy number loss	not provided	GPathogenic
Select item 562995	GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1	AADAT, ACSL1 +63 more	Copy number loss	not provided	GPathogenic
Select item 562989	GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3	CFAP96, CFAP97 +92 more	Copy number gain	not provided	GPathogenic
Select item 560041	Single allele	ACSL1, AGA +43 more	Deletion	not provided	GPathogenic
Select item 525144	NC_000004.12:g.(?_185143353)_(185535454_?)del	LOC129993503, LOC129993504 +35 more	Deletion	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 454473	NC_000004.11:g.(?_186064507)_(186436064_?)dup	CCDC110, ANKRD37 +7 more	Duplication	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 443800	GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3	AADAT, ACSL1 +102 more	Copy number gain	See cases	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 443385	GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3	AADAT, ACSL1 +70 more	Copy number gain	See cases	GPathogenic
Select item 443369	GRCh37/hg19 4q34.2-35.2(chr4:176306103-190957473)x3	ACSL1, AGA +45 more	Copy number gain	See cases	GPathogenic
Select item 443064	GRCh37/hg19 4q35.1-35.2(chr4:184852835-190957473)x1	ACSL1, ANKRD37 +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 442869	GRCh37/hg19 4q34.3-35.2(chr4:180702769-190957473)x3	CENPU, ACSL1 +37 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	AADAT, ABCE1 +255 more	Copy number gain	See cases	GPathogenic

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