ClinVar for Gene (Select 55602) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265584	NM_017632.4(CDKN2AIP):c.184G>A (p.Asp62Asn)	CDKN2AIP, LOC129993434 (D62N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141662	NM_017632.4(CDKN2AIP):c.971G>C (p.Ser324Thr)	CDKN2AIP (S324T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3141661	NM_017632.4(CDKN2AIP):c.961T>C (p.Ser321Pro)	CDKN2AIP (S321P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3141660	NM_017632.4(CDKN2AIP):c.943G>T (p.Ala315Ser)	CDKN2AIP (A315S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3141659	NM_017632.4(CDKN2AIP):c.904G>C (p.Glu302Gln)	CDKN2AIP (E302Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3141658	NM_017632.4(CDKN2AIP):c.849A>T (p.Gln283His)	CDKN2AIP (Q283H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3141657	NM_017632.4(CDKN2AIP):c.782A>T (p.Asp261Val)	CDKN2AIP (D261V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3141656	NM_017632.4(CDKN2AIP):c.487G>A (p.Ala163Thr)	CDKN2AIP (A163T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3141655	NM_017632.4(CDKN2AIP):c.455C>T (p.Ser152Phe)	CDKN2AIP (S152F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3141654	NM_017632.4(CDKN2AIP):c.329C>T (p.Thr110Ile)	CDKN2AIP (T110I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141653	NM_017632.4(CDKN2AIP):c.292G>C (p.Asp98His)	CDKN2AIP (D98H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141652	NM_017632.4(CDKN2AIP):c.140C>T (p.Ala47Val)	CDKN2AIP (A47V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141651	NM_017632.4(CDKN2AIP):c.1387C>T (p.His463Tyr)	CDKN2AIP (H463Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3141650	NM_017632.4(CDKN2AIP):c.1229C>T (p.Pro410Leu)	CDKN2AIP (P410L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3141648	NM_017632.4(CDKN2AIP):c.1175G>C (p.Ser392Thr)	CDKN2AIP (S392T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3141647	NM_017632.4(CDKN2AIP):c.1100C>T (p.Ala367Val)	CDKN2AIP (A367V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3141646	NM_017632.4(CDKN2AIP):c.1079C>T (p.Ser360Phe)	CDKN2AIP (S360F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3141645	NM_017632.4(CDKN2AIP):c.1073T>C (p.Leu358Pro)	CDKN2AIP (L358P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +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 3062775	GRCh37/hg19 4q34.1-35.1(chr4:175496275-186495932)x1	ACSL1, ADAM29 +34 more	Copy number loss	not specified	GPathogenic
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	ENPP6, F11 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685134	GRCh37/hg19 4q33-35.1(chr4:171476330-184998011)x1	GLRA3, GPM6A +27 more	Copy number loss	not provided	GLikely pathogenic
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 2655205	NM_017632.4(CDKN2AIP):c.264C>T (p.Leu88=)	CDKN2AIP, LOC129993434	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619331	NM_017632.4(CDKN2AIP):c.1258A>G (p.Ser420Gly)	CDKN2AIP (S420G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2610241	NM_017632.4(CDKN2AIP):c.1370T>G (p.Phe457Cys)	CDKN2AIP (F457C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2605907	NM_017632.4(CDKN2AIP):c.632C>T (p.Ser211Phe)	CDKN2AIP (S211F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2531080	NM_017632.4(CDKN2AIP):c.1618G>C (p.Val540Leu)	CDKN2AIP (V540L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2525989	NM_017632.4(CDKN2AIP):c.784T>A (p.Ser262Thr)	CDKN2AIP (S262T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2465984	NM_017632.4(CDKN2AIP):c.173A>G (p.Asp58Gly)	CDKN2AIP, LOC129993434 (D58G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423656	NC_000004.11:g.(?_183245174)_(184633797_?)del	CDKN2AIP, CLDN22 +7 more	Deletion	not provided	GPathogenic
Select item 2409889	NM_017632.4(CDKN2AIP):c.588C>G (p.Ile196Met)	CDKN2AIP (I196M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2377332	NM_017632.4(CDKN2AIP):c.566A>T (p.Asn189Ile)	CDKN2AIP (N189I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2333545	NM_017632.4(CDKN2AIP):c.526T>C (p.Ser176Pro)	CDKN2AIP (S176P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2327724	NM_017632.4(CDKN2AIP):c.841G>C (p.Ala281Pro)	CDKN2AIP (A281P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2326371	NM_017632.4(CDKN2AIP):c.438A>G (p.Ile146Met)	CDKN2AIP (I146M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2321427	NM_017632.4(CDKN2AIP):c.347C>T (p.Thr116Ile)	CDKN2AIP (T116I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305971	NM_017632.4(CDKN2AIP):c.974C>T (p.Ser325Leu)	CDKN2AIP (S325L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2273408	NM_017632.4(CDKN2AIP):c.1289A>G (p.Asn430Ser)	CDKN2AIP (N430S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2270764	NM_017632.4(CDKN2AIP):c.623G>T (p.Arg208Leu)	CDKN2AIP (R208L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2265055	NM_017632.4(CDKN2AIP):c.301C>T (p.Leu101Phe)	CDKN2AIP (L101F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247434	NM_017632.4(CDKN2AIP):c.170C>G (p.Thr57Arg)	CDKN2AIP, LOC129993434 (T57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238318	NM_017632.4(CDKN2AIP):c.1106C>T (p.Ser369Leu)	CDKN2AIP (S369L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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 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	CYP4V2, HAND2 +93 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 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 997081	GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678)	CFAP96, CFAP97 +36 more	Copy number loss	Atypical behavior +1 more	GLikely pathogenic
Select item 983279	GRCh37/hg19 4q32.3-35.1(chr4:169108358-184425536)x1	AADAT, ADAM29 +35 more	Copy number loss	See cases	GPathogenic
Select item 980713	GRCh37/hg19 4q34.3-35.1(chr4:181853722-184723116)x1	CDKN2AIP, CLDN22 +7 more	Copy number loss	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	SCRG1, SH3RF1 +79 more	Copy number loss	not provided	GPathogenic
Select item 809725	GRCh37/hg19 4q35.1-35.2(chr4:183245174-190948359)x1	MTNR1A, PDLIM3 +37 more	Copy number loss	not provided	GLikely pathogenic
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 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
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	AADAT, ACSL1 +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 685014	GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1	AADAT, ACSL1 +70 more	Copy number loss	not provided	GPathogenic
Select item 684987	GRCh37/hg19 4q35.1(chr4:183712263-185501647)x1	CDKN2AIP, CLDN22 +10 more	Copy number loss	not provided	GUncertain significance
Select item 684986	GRCh37/hg19 4q35.1(chr4:183712263-185501647)x1	CDKN2AIP, CLDN22 +10 more	Copy number loss	not provided	GUncertain significance
Select item 625785	GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545)	CLDN22, FAM149A +48 more	Copy number loss	not provided	GPathogenic
Select item 625665	GRCh37/hg19 4q33-35.2(chr4:171663620-190431429)	RWDD4, SAP30 +54 more	Copy number loss	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	AADAT, ACSL1 +92 more	Copy number gain	not provided	GPathogenic
Select item 560041	Single allele	ANKRD37, ACSL1 +43 more	Deletion	not provided	GPathogenic
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 442869	GRCh37/hg19 4q34.3-35.2(chr4:180702769-190957473)x3	ACSL1, ANKRD37 +37 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	AADAT, ACSL1 +118 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 394092	GRCh37/hg19 4q35.1(chr4:183959053-186858555)x3	ACSL1, ANKRD37 +23 more	Copy number gain	See cases	GUncertain significance
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253508	GRCh37/hg19 4q34.1-35.2(chr4:176270886-190713650)x1	ACSL1, AGA +43 more	Copy number loss	See cases	GPathogenic
Select item 253406	GRCh37/hg19 4q34.3-35.2(chr4:178243625-190713650)x1	ACSL1, AGA +37 more	Copy number loss	See cases	GPathogenic
Select item 161707	NM_017632.4(CDKN2AIP):c.914T>G (p.Leu305Arg)	CDKN2AIP (L305R)	Single nucleotide variant (3 prime UTR variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 161066	GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	ACSL1, ANKRD37 +193 more	Copy number loss	See cases	GPathogenic
Select item 155559	GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1	ACSL1, AGA +293 more	Copy number loss	See cases	GLikely pathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	LOC129993480, LOC129993481 +451 more	Copy number gain	See cases	GPathogenic
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LOC126807230, LOC126807231 +383 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	ACSL1, ADAM29 +372 more	Copy number loss	See cases	GPathogenic
Select item 154943	GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3	WWC2, WWC2-AS1 +274 more	Copy number gain	See cases	GPathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	AADAT, ACSL1 +386 more	Copy number loss	See cases	GPathogenic

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