ClinVar for Gene (Select 290) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299358	NM_001150.3(ANPEP):c.82G>T (p.Ala28Ser)	ANPEP (A28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299347	NM_001150.3(ANPEP):c.2369C>G (p.Pro790Arg)	ANPEP (P790R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299336	NM_001150.3(ANPEP):c.262A>T (p.Thr88Ser)	ANPEP (T88S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299326	NM_001150.3(ANPEP):c.317C>T (p.Ser106Phe)	ANPEP (S106F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299316	NM_001150.3(ANPEP):c.1379C>T (p.Ser460Leu)	ANPEP (S460L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299305	NM_001150.3(ANPEP):c.929C>T (p.Ala310Val)	ANPEP, LOC126862217 (A310V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299294	NM_001150.3(ANPEP):c.943G>A (p.Asp315Asn)	ANPEP, LOC126862217 (D315N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243685	NC_000015.9:g.(?_89379429)_(91312836_?)del	ABHD2, ACAN +29 more	Deletion	D-2-hydroxyglutaric aciduria 2 +1 more	GConflicting classifications of pathogenicity
Select item 3127217	NM_001150.3(ANPEP):c.941G>A (p.Gly314Asp)	ANPEP, LOC126862217 (G314D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127216	NM_001150.3(ANPEP):c.2807C>G (p.Ala936Gly)	ANPEP (A936G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127215	NM_001150.3(ANPEP):c.2791G>A (p.Gly931Ser)	ANPEP (G931S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127214	NM_001150.3(ANPEP):c.2668G>T (p.Asp890Tyr)	ANPEP (D890Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127213	NM_001150.3(ANPEP):c.2638G>C (p.Val880Leu)	ANPEP (V880L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127212	NM_001150.3(ANPEP):c.2194C>A (p.His732Asn)	ANPEP (H732N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127211	NM_001150.3(ANPEP):c.1906G>A (p.Glu636Lys)	ANPEP (E636K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127210	NM_001150.3(ANPEP):c.1772T>A (p.Ile591Asn)	ANPEP (I591N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127209	NM_001150.3(ANPEP):c.1708C>G (p.Pro570Ala)	ANPEP (P570A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127208	NM_001150.3(ANPEP):c.1482C>A (p.Asp494Glu)	ANPEP (D494E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127207	NM_001150.3(ANPEP):c.1354T>C (p.Ser452Pro)	ANPEP (S452P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127206	NM_001150.3(ANPEP):c.1069T>G (p.Trp357Gly)	ANPEP, LOC126862217 (W357G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063386	GRCh37/hg19 15q26.1(chr15:90273673-90331282)x1	ANPEP, MESP1 +2 more	Copy number loss	not specified	GUncertain significance
Select item 3037975	NM_001150.3(ANPEP):c.1858G>C (p.Val620Leu)	ANPEP (V620L)	Single nucleotide variant (missense variant)	ANPEP-related disorder	GLikely benign
Select item 2685530	GRCh37/hg19 15q26.1(chr15:89976407-90387346)x1	PLIN1, TICRR +10 more	Copy number loss	not provided	GUncertain significance
Select item 2598868	NM_001150.3(ANPEP):c.1128C>A (p.Ser376Arg)	ANPEP, LOC126862217 (S376R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2557844	NM_001150.3(ANPEP):c.760C>G (p.Pro254Ala)	ANPEP (P254A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555118	NM_001150.3(ANPEP):c.1899C>G (p.Asn633Lys)	ANPEP (N633K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532953	NM_001150.3(ANPEP):c.236C>T (p.Thr79Met)	ANPEP (T79M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524021	NM_001150.3(ANPEP):c.656A>T (p.Lys219Met)	ANPEP (K219M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521693	NM_001150.3(ANPEP):c.946T>C (p.Tyr316His)	ANPEP, LOC126862217 (Y316H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516692	NM_001150.3(ANPEP):c.307T>C (p.Phe103Leu)	ANPEP (F103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511967	NM_001150.3(ANPEP):c.902G>A (p.Arg301Gln)	ANPEP, LOC126862217 (R301Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510550	NM_001150.3(ANPEP):c.1880C>T (p.Thr627Met)	ANPEP (T627M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509377	NM_001150.3(ANPEP):c.837G>C (p.Leu279Phe)	ANPEP (L279F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509256	NM_001150.3(ANPEP):c.1322A>G (p.Tyr441Cys)	ANPEP (Y441C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508687	NM_001150.3(ANPEP):c.1088G>A (p.Arg363Gln)	ANPEP, LOC126862217 (R363Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2480046	NM_001150.3(ANPEP):c.1649C>T (p.Pro550Leu)	ANPEP (P550L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461447	NM_001150.3(ANPEP):c.247G>T (p.Asp83Tyr)	ANPEP (D83Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459909	NM_001150.3(ANPEP):c.2257G>A (p.Glu753Lys)	ANPEP (E753K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459611	NM_001150.3(ANPEP):c.218G>A (p.Arg73His)	ANPEP (R73H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458999	NM_001150.3(ANPEP):c.152C>T (p.Pro51Leu)	ANPEP (P51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458551	NM_001150.3(ANPEP):c.366C>G (p.Ile122Met)	ANPEP (I122M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422891	NC_000015.9:g.(?_89379429)_(91565479_?)dup	ABHD2, ACAN +37 more	Duplication	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2393368	NM_001150.3(ANPEP):c.769C>A (p.Pro257Thr)	ANPEP (P257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378043	NM_001150.3(ANPEP):c.1304T>G (p.Met435Arg)	ANPEP (M435R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376794	NM_001150.3(ANPEP):c.325G>A (p.Val109Ile)	ANPEP (V109I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368831	NM_001150.3(ANPEP):c.1984A>G (p.Ile662Val)	ANPEP (I662V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367530	NM_001150.3(ANPEP):c.2455G>A (p.Ala819Thr)	ANPEP (A819T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366846	NM_001150.3(ANPEP):c.2320G>A (p.Gly774Ser)	ANPEP (G774S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361791	NM_001150.3(ANPEP):c.958G>A (p.Val320Met)	ANPEP, LOC126862217 (V320M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358864	NM_001150.3(ANPEP):c.67G>A (p.Val23Met)	ANPEP (V23M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355532	NM_001150.3(ANPEP):c.1483G>A (p.Val495Ile)	ANPEP (V495I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350501	NM_001150.3(ANPEP):c.157G>A (p.Ala53Thr)	ANPEP (A53T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349980	NM_001150.3(ANPEP):c.992A>G (p.His331Arg)	ANPEP, LOC126862217 (H331R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346088	NM_001150.3(ANPEP):c.121G>A (p.Ala41Thr)	ANPEP (A41T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322338	NM_001150.3(ANPEP):c.2310G>C (p.Glu770Asp)	ANPEP (E770D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304651	NM_001150.3(ANPEP):c.263C>T (p.Thr88Met)	ANPEP (T88M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303998	NM_001150.3(ANPEP):c.2612T>C (p.Ile871Thr)	ANPEP (I871T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276229	NM_001150.3(ANPEP):c.2801C>A (p.Thr934Asn)	ANPEP (T934N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252474	NM_001150.3(ANPEP):c.182C>T (p.Ser61Leu)	ANPEP (S61L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2246573	NM_001150.3(ANPEP):c.2092G>A (p.Ala698Thr)	ANPEP (A698T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224665	NM_001150.3(ANPEP):c.1249G>A (p.Val417Met)	ANPEP (V417M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220774	NM_001150.3(ANPEP):c.1394C>A (p.Pro465Gln)	ANPEP (P465Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1340806	GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1	ABHD2, ANPEP +41 more	Copy number loss	not provided	GPathogenic
Select item 1328111	GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1	ABHD2, ACAN +50 more	Copy number loss	not provided	GPathogenic
Select item 1285898	NM_001150.3(ANPEP):c.963G>A (p.Thr321=)	ANPEP, LOC126862217	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1279989	NM_001150.3(ANPEP):c.932C>T (p.Ala311Val)	ANPEP, LOC126862217 (A311V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1220916	NM_001150.3(ANPEP):c.954G>T (p.Leu318=)	ANPEP, LOC126862217	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 983158	GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	ABHD2, ACAN +77 more	Copy number loss	See cases	GPathogenic
Select item 815745	GRCh37/hg19 15q26.1(chr15:90111672-90671886)x3	ARPIN-AP3S2, ZNF710 +11 more	Copy number gain	not provided	GUncertain significance
Select item 815743	GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1	ABHD2, ACAN +76 more	Copy number loss	not provided	GPathogenic
Select item 789079	NM_001150.3(ANPEP):c.614+9C>T	ANPEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 785513	NM_001150.3(ANPEP):c.1437+8C>G	ANPEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 785509	NM_001150.3(ANPEP):c.1437+9C>G	ANPEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780059	NM_001150.3(ANPEP):c.298C>T (p.Leu100=)	ANPEP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780007	NM_001150.3(ANPEP):c.2310G>A (p.Glu770=)	ANPEP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778103	NM_001150.3(ANPEP):c.1839C>T (p.Ser613=)	ANPEP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775361	NM_001150.3(ANPEP):c.192C>A (p.Thr64=)	ANPEP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 759169	NM_001150.3(ANPEP):c.894C>G (p.Val298=)	ANPEP, LOC126862217	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749874	NM_001150.3(ANPEP):c.2808C>T (p.Ala936=)	ANPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749574	NM_001150.3(ANPEP):c.1437+10G>A	ANPEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 745821	NM_001150.3(ANPEP):c.1245C>A (p.Ser415=)	ANPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741271	NM_001150.3(ANPEP):c.1431C>T (p.Tyr477=)	ANPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720834	NM_001150.3(ANPEP):c.2433C>T (p.Phe811=)	ANPEP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720704	NM_001150.3(ANPEP):c.2013C>G (p.Ala671=)	ANPEP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716130	NM_001150.3(ANPEP):c.772C>A (p.Leu258Ile)	ANPEP (L258I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 716129	NM_001150.3(ANPEP):c.1265C>G (p.Ala422Gly)	ANPEP (A422G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 688557	GRCh37/hg19 15q26.1(chr15:90308996-90502529)x1	ANPEP, AP3S2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 686177	GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3	ADAMTS17, ALDH1A3 +54 more	Copy number gain	not provided	GPathogenic
Select item 625751	GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	ABHD2, ACAN +58 more	Copy number loss	not provided	GPathogenic
Select item 564229	GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3	ABHD2, ADAMTS17 +66 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443650	GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3	ABHD2, ACAN +55 more	Copy number gain	See cases	GLikely pathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	GPathogenic

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