5151[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147948	GRCh38/hg38 15q25.2-25.3(chr15:82560915-85185613)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 155058	GRCh38/hg38 15q25.2-25.3(chr15:82627214-85243616)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153577	GRCh38/hg38 15q25.2-25.3(chr15:84260061-85181753)x1	ALPK3, LINC00933 +42 more	Copy number loss	See cases	GUncertain significance
Select item 154518	GRCh38/hg38 15q25.2-25.3(chr15:84391435-85123078)x3	LOC130057805, LOC130057806 +40 more	Copy number gain	See cases	GUncertain significance
Select item 148405	GRCh38/hg38 15q25.2-25.3(chr15:84391435-85157671)x1	ALPK3, LINC00933 +41 more	Copy number loss	See cases	GUncertain significance
Select item 146523	GRCh38/hg38 15q25.2-25.3(chr15:84391435-85123078)x1	ALPK3, LINC00933 +40 more	Copy number loss	See cases	GUncertain significance
Select item 57536	GRCh38/hg38 15q25.2-25.3(chr15:84391435-85185613)x1	ALPK3, LINC00933 +42 more	Copy number loss	See cases	GUncertain significance
Select item 560037	Single allele	ALPK3, LINC00933 +39 more	Deletion	not provided	GUncertain significance
Select item 151217	GRCh38/hg38 15q25.3(chr15:84968749-85123019)x3	LOC125138300, LOC130057817 +12 more	Copy number gain	See cases	GLikely benign
Select item 3210789	NM_002605.3(PDE8A):c.61C>T (p.Pro21Ser)	PDE8A (P21S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532495	NM_002605.3(PDE8A):c.62C>T (p.Pro21Leu)	PDE8A (P21L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231537	NM_002605.3(PDE8A):c.77T>G (p.Leu26Arg)	PDE8A (L26R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305420	NM_002605.3(PDE8A):c.140G>A (p.Gly47Asp)	PDE8A (G47D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365552	NM_002605.3(PDE8A):c.154G>A (p.Glu52Lys)	PDE8A (E52K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463825	NM_002605.3(PDE8A):c.290G>T (p.Cys97Phe)	PDE8A (C97F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305418	NM_002605.3(PDE8A):c.326T>C (p.Val109Ala)	PDE8A (V37A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528979	NM_002605.3(PDE8A):c.656C>G (p.Thr219Ser)	PDE8A (T147S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305457	NM_002605.3(PDE8A):c.704G>T (p.Arg235Leu)	PDE8A (R235L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210353	NM_002605.3(PDE8A):c.704G>A (p.Arg235His)	PDE8A (R163H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3210790	NM_002605.3(PDE8A):c.781G>A (p.Gly261Arg)	PDE8A (G189R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602687	NM_002605.3(PDE8A):c.956A>G (p.Tyr319Cys)	PDE8A (Y273C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470052	NM_002605.3(PDE8A):c.1005A>G (p.Ile335Met)	PDE8A (I263M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370208	NM_002605.3(PDE8A):c.1009G>A (p.Glu337Lys)	PDE8A (E291K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305419	NM_002605.3(PDE8A):c.1031A>G (p.His344Arg)	PDE8A (H298R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261459	NM_002605.3(PDE8A):c.1076C>T (p.Ser359Leu)	PDE8A (S287L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293479	NM_002605.3(PDE8A):c.1084G>A (p.Val362Ile)	PDE8A (V290I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549522	NM_002605.3(PDE8A):c.1097C>T (p.Ala366Val)	PDE8A (A320V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471800	NM_002605.3(PDE8A):c.1102C>T (p.Arg368Cys)	PDE8A (R296C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461510	NM_002605.3(PDE8A):c.1103G>A (p.Arg368His)	PDE8A (R322H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403732	NM_002605.3(PDE8A):c.1130G>A (p.Arg377Gln)	PDE8A (R305Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219014	NM_002605.3(PDE8A):c.1148G>A (p.Arg383Gln)	PDE8A (R383Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242377	NM_002605.3(PDE8A):c.1161G>T (p.Met387Ile)	PDE8A (M315I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242378	NM_002605.3(PDE8A):c.1162A>T (p.Thr388Ser)	PDE8A (T388S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529199	NM_002605.3(PDE8A):c.1165A>T (p.Ile389Phe)	PDE8A (I317F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255511	NM_002605.3(PDE8A):c.1193A>G (p.Asn398Ser)	PDE8A (N352S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490094	NM_002605.3(PDE8A):c.1216A>C (p.Ser406Arg)	PDE8A (S334R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214007	NM_002605.3(PDE8A):c.1250G>A (p.Arg417His)	PDE8A (R371H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305423	NM_002605.3(PDE8A):c.1570C>T (p.Arg524Cys)	PDE8A (R478C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289940	NM_002605.3(PDE8A):c.1603G>A (p.Glu535Lys)	PDE8A (E535K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513594	NM_002605.3(PDE8A):c.1610C>T (p.Thr537Met)	PDE8A (T537M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336881	NM_002605.3(PDE8A):c.1623G>C (p.Trp541Cys)	PDE8A (W469C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254987	NM_002605.3(PDE8A):c.1652C>T (p.Ser551Phe)	PDE8A (S505F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305421	NM_002605.3(PDE8A):c.1654T>G (p.Ser552Ala)	PDE8A (S480A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210788	NM_002605.3(PDE8A):c.1670A>G (p.Asn557Ser)	PDE8A (N511S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255160	NM_002605.3(PDE8A):c.1748C>G (p.Pro583Arg)	PDE8A (P537R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568871	NM_002605.3(PDE8A):c.1889C>T (p.Ala630Val)	PDE8A (A558V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353792	NM_002605.3(PDE8A):c.1987G>A (p.Asp663Asn)	PDE8A (D591N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535289	NM_002605.3(PDE8A):c.1999G>A (p.Ala667Thr)	PDE8A (A621T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403948	NM_002605.3(PDE8A):c.2141G>A (p.Arg714Gln)	PDE8A (R642Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329784	NM_002605.3(PDE8A):c.2201T>A (p.Leu734Gln)	PDE8A (L688Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364186	NM_002605.3(PDE8A):c.2287G>C (p.Val763Leu)	PDE8A (V691L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256230	NM_002605.3(PDE8A):c.2345T>C (p.Ile782Thr)	PDE8A (I710T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206158	NM_002605.3(PDE8A):c.2465G>A (p.Arg822Gln)	PDE8A (R776Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402342	NM_002605.3(PDE8A):c.2470C>T (p.Leu824Phe)	PDE8A (L778F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148856	GRCh37/hg19 15q25.2-25.3(chr15:84910816-85790661)x1	ALPK3, NMB +6 more	Copy number loss	not provided	GUncertain significance
Select item 2684768	GRCh37/hg19 15q25.3(chr15:85363198-85619122)x3	ALPK3, PDE8A +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684767	GRCh37/hg19 15q25.2-25.3(chr15:85084471-85724984)x3	ALPK3, NMB +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684766	GRCh37/hg19 15q25.2-25.3(chr15:83169558-85779567)x3	ADAMTSL3, ALPK3 +19 more	Copy number gain	not provided	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 2506555	GRCh37/hg19 15q25.2-25.3(chr15:84908070-85681134)	ALPK3, NMB +6 more	Copy number loss	WDR73-related disorder	GPathogenic
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 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1809087	GRCh37/hg19 15q25.2-25.3(chr15:84910816-85786847)x1	ALPK3, NMB +6 more	Copy number loss	not provided	GUncertain significance
Select item 1808235	GRCh37/hg19 15q25.2-25.3(chr15:85084471-85528298)x3	ALPK3, NMB +6 more	Copy number gain	not provided	GUncertain significance
Select item 1807730	GRCh37/hg19 15q25.2-25.3(chr15:84827469-85786847)x1	ALPK3, NMB +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980541	GRCh37/hg19 15q25.2-25.3(chr15:85089553-85876582)x3	WDR73, ALPK3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 980540	GRCh37/hg19 15q25.2-25.3(chr15:83201955-85786847)x1	ADAMTSL3, ALPK3 +19 more	Copy number loss	not provided	GPathogenic
Select item 815740	GRCh37/hg19 15q25.2-25.3(chr15:84928663-85786847)x1	ALPK3, NMB +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 687710	GRCh37/hg19 15q25.2-25.3(chr15:84884801-85724984)x1	ALPK3, NMB +6 more	Copy number loss	not provided	GPathogenic
Select item 625752	GRCh37/hg19 15q25.2-25.3(chr15:85147499-85681120)	ALPK3, NMB +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 625751	GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	ABHD2, ACAN +58 more	Copy number loss	not provided	GPathogenic
Select item 564223	GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2	ABHD17C, ADAMTS7 +49 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 523252	GRCh37/hg19 15q25.2-25.3(chr15:85149690-85666309)	WDR73, ALPK3 +6 more	Copy number loss	Hearing impairment +1 more	GUncertain significance
Select item 503593	GRCh37/hg19 15q25.2-25.3(chr15:85172183-85680021)x3	NMB, ALPK3 +5 more	Copy number gain	See cases	GUncertain significance
Select item 443753	GRCh37/hg19 15q25.2-25.3(chr15:84928829-85724984)x1	ALPK3, NMB +6 more	Copy number loss	See cases	GUncertain significance
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 442875	GRCh37/hg19 15q25.2-25.3(chr15:85084470-85725149)x1	ALPK3, NMB +6 more	Copy number loss	See cases	GUncertain significance
Select item 442282	GRCh37/hg19 15q25.2-25.3(chr15:85084470-85724984)x1	ALPK3, NMB +6 more	Copy number loss	See cases	GUncertain significance
Select item 442279	GRCh37/hg19 15q25.2-25.3(chr15:85085321-85709192)x3	ALPK3, NMB +6 more	Copy number gain	See cases	GUncertain significance
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 394871	GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3	ABHD2, ACAN +87 more	Copy number gain	See cases	GPathogenic
Select item 394016	GRCh37/hg19 15q25.2-25.3(chr15:85146993-85670946)x1	SEC11A, SLC28A1 +6 more	Copy number loss	See cases	GUncertain significance
Select item 394014	GRCh37/hg19 15q25.2-25.3(chr15:85146993-85670946)x3	SLC28A1, WDR73 +6 more	Copy number gain	See cases	GUncertain significance
Select item 393544	GRCh37/hg19 15q25.2-25.3(chr15:84931022-85728834)x1	SLC28A1, WDR73 +6 more	Copy number loss	VATER association	GLikely benign
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 369833	GRCh37/hg19 15q25.2-25.3(chr15:84789775-85710777)x3	ALPK3, NMB +6 more	Copy number gain	not provided	GUncertain significance
Select item 253774	GRCh37/hg19 15q25.2-25.3(chr15:85146993-85671005)x1	ZNF592, SEC11A +6 more	Copy number loss	See cases	GUncertain significance

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