PGPEP1L[gene] - 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 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 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 152930	GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3	ADAMTS17, ALDH1A3 +228 more	Copy number gain	See cases	GPathogenic
Select item 144251	GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1	LYSMD4, MCTP2 +224 more	Copy number loss	See cases	GPathogenic
Select item 155620	GRCh38/hg38 15q26.2-26.3(chr15:93805032-101326876)x1	ADAMTS17, ALDH1A3 +205 more	Copy number loss	See cases	GPathogenic
Select item 57195	GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3	ADAMTS17, ALDH1A3 +218 more	Copy number gain	See cases	GPathogenic
Select item 147708	GRCh38/hg38 15q26.2-26.3(chr15:95770627-101810992)x1	ADAMTS17, ALDH1A3 +202 more	Copy number loss	See cases	GPathogenic
Select item 155021	GRCh38/hg38 15q26.2-26.3(chr15:96024127-101920998)x1	ADAMTS17, ALDH1A3 +203 more	Copy number loss	See cases	GPathogenic
Select item 59388	GRCh38/hg38 15q26.2-26.3(chr15:96069425-101849578)x1	ADAMTS17, ALDH1A3 +201 more	Copy number loss	See cases	GPathogenic
Select item 59402	GRCh38/hg38 15q26.2-26.3(chr15:96329791-101849578)x1	ADAMTS17, ALDH1A3 +195 more	Copy number loss	See cases	GPathogenic
Select item 146071	GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1	ADAMTS17, ALDH1A3 +184 more	Copy number loss	See cases	GPathogenic
Select item 152750	GRCh38/hg38 15q26.2-26.3(chr15:97172754-101920998)x1	ADAMTS17, ALDH1A3 +185 more	Copy number loss	See cases	GPathogenic
Select item 151982	GRCh38/hg38 15q26.2-26.3(chr15:97283711-101920998)x3	ADAMTS17, ALDH1A3 +184 more	Copy number gain	See cases	GLikely pathogenic
Select item 155109	GRCh38/hg38 15q26.2-26.3(chr15:97681713-101920998)x1	ADAMTS17, ALDH1A3 +179 more	Copy number loss	See cases	GPathogenic
Select item 59404	GRCh38/hg38 15q26.2-26.3(chr15:97735430-101810992)x1	ADAMTS17, ALDH1A3 +174 more	Copy number loss	See cases	GPathogenic
Select item 148277	GRCh38/hg38 15q26.2-26.3(chr15:97783828-100780256)x3	ADAMTS17, ARRDC4 +111 more	Copy number gain	See cases	GLikely pathogenic
Select item 150870	GRCh38/hg38 15q26.2-26.3(chr15:97941427-101797926)x1	ADAMTS17, ALDH1A3 +171 more	Copy number loss	See cases	GPathogenic
Select item 155317	GRCh38/hg38 15q26.3(chr15:98068625-99258729)x3	IGF1R, IRAIN +48 more	Copy number gain	See cases	GUncertain significance
Select item 146062	GRCh38/hg38 15q26.3(chr15:98236665-98976591)x3	IGF1R, IRAIN +24 more	Copy number gain	See cases	GUncertain significance
Select item 155459	GRCh38/hg38 15q26.3(chr15:98280297-101888909)x3	ADAMTS17, ALDH1A3 +165 more	Copy number gain	See cases	GPathogenic
Select item 154661	GRCh38/hg38 15q26.3(chr15:98467297-101843270)x1	ADAMTS17, ALDH1A3 +159 more	Copy number loss	See cases	GPathogenic
Select item 146343	GRCh38/hg38 15q26.3(chr15:98764412-99075036)x3	IGF1R, LOC125146365 +15 more	Copy number gain	See cases	GUncertain significance
Select item 59405	GRCh38/hg38 15q26.3(chr15:98845807-101843270)x1	LOC130058070, LOC130058071 +148 more	Copy number loss	See cases	GPathogenic
Select item 149267	GRCh38/hg38 15q26.3(chr15:98873545-99363146)x3	IGF1R, LOC126862245 +24 more	Copy number gain	See cases	GUncertain significance
Select item 153592	GRCh38/hg38 15q26.3(chr15:98892707-99182753)x1	IGF1R, LOC126862245 +18 more	Copy number loss	See cases	GPathogenic
Select item 146842	GRCh38/hg38 15q26.3(chr15:98900305-99156016)x1	IGF1R, LOC130058004 +17 more	Copy number loss	See cases	GUncertain significance
Select item 58223	GRCh38/hg38 15q26.3(chr15:98909148-99173160)x1	IGF1R, LOC130058004 +17 more	Copy number loss	See cases	GUncertain significance
Select item 2359511	NM_001167902.2(PGPEP1L):c.401C>T (p.Thr134Ile)	PGPEP1L (T188I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211893	NM_001167902.2(PGPEP1L):c.388G>A (p.Glu130Lys)	PGPEP1L (E130K +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211892	NM_001167902.2(PGPEP1L):c.350T>A (p.Leu117Gln)	PGPEP1L (L171Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211891	NM_001167902.2(PGPEP1L):c.349C>G (p.Leu117Val)	PGPEP1L (A171G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211890	NM_001167902.2(PGPEP1L):c.347T>A (p.Met116Lys)	PGPEP1L (M116K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624362	NM_001167902.2(PGPEP1L):c.310C>A (p.Leu104Met)	PGPEP1L (L104M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464118	NM_001167902.2(PGPEP1L):c.305C>T (p.Ala102Val)	PGPEP1L (A102V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306026	NM_001167902.2(PGPEP1L):c.292C>T (p.Arg98Cys)	PGPEP1L (R98C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211889	NM_001167902.2(PGPEP1L):c.284C>T (p.Pro95Leu)	PGPEP1L (P95L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211888	NM_001167902.2(PGPEP1L):c.269T>A (p.Leu90His)	PGPEP1L (L144H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320455	NM_001167902.2(PGPEP1L):c.256G>A (p.Gly86Ser)	PGPEP1L (G140S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211887	NM_001167902.2(PGPEP1L):c.214G>A (p.Val72Ile)	PGPEP1L (V72I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306613	NM_001167902.2(PGPEP1L):c.197G>A (p.Arg66Gln)	PGPEP1L (R120Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306031	NM_001167902.2(PGPEP1L):c.194C>G (p.Ser65Cys)	PGPEP1L (S65C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536335	NM_001167902.2(PGPEP1L):c.176G>C (p.Gly59Ala)	PGPEP1L (G113A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360904	NM_001167902.2(PGPEP1L):c.166G>A (p.Ala56Thr)	PGPEP1L (A110T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306030	NM_001167902.2(PGPEP1L):c.144G>A (p.Met48Ile)	PGPEP1L (M48I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306027	NM_001167902.2(PGPEP1L):c.85C>A (p.Pro29Thr)	PGPEP1L (P29T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211886	NM_001167902.2(PGPEP1L):c.83G>T (p.Trp28Leu)	PGPEP1L (W82L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534867	NM_001167902.2(PGPEP1L):c.74G>A (p.Arg25His)	PGPEP1L (R25H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461703	NM_001167902.2(PGPEP1L):c.58C>T (p.Arg20Trp)	PGPEP1L (R74W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306032	NM_001167902.2(PGPEP1L):c.53G>T (p.Gly18Val)	PGPEP1L (G18V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328639	NM_001167902.2(PGPEP1L):c.17A>C (p.Lys6Thr)	PGPEP1L (K60T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455446	NM_001167902.2(PGPEP1L):c.10G>A (p.Ala4Thr)	PGPEP1L (A58T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211885	NM_001167902.2(PGPEP1L):c.8C>T (p.Thr3Ile)	PGPEP1L (T57I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211884	NM_001167902.2(PGPEP1L):c.-12G>A	PGPEP1L (V51M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211883	NM_001167902.2(PGPEP1L):c.-14T>C	PGPEP1L (V50A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3211882	NM_001167902.2(PGPEP1L):c.-23C>T	PGPEP1L (P47L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209670	NM_001167902.2(PGPEP1L):c.-96C>T	PGPEP1L (R23W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292665	NM_001167902.2(PGPEP1L):c.-138C>A	PGPEP1L (L9I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 149682	GRCh38/hg38 15q26.3(chr15:98976591-99598500)x3	LINC02244, LOC105371017 +35 more	Copy number gain	See cases	GUncertain significance
Select item 147414	GRCh38/hg38 15q26.3(chr15:98976591-99456909)x4	LINC02244, LOC105371017 +25 more	Copy number gain	See cases	GUncertain significance
Select item 3242325	GRCh37/hg19 15q26.3(chr15:98615561-102400033)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not provided	GPathogenic
Select item 3063393	GRCh37/hg19 15q26.3(chr15:99477386-100023041)x3	IGF1R, LRRC28 +3 more	Copy number gain	not specified	GPathogenic
Select item 3063384	GRCh37/hg19 15q26.1-26.3(chr15:94176550-102429112)x3	ADAMTS17, ALDH1A3 +23 more	Copy number gain	not specified	GPathogenic
Select item 3063383	GRCh37/hg19 15q26.2-26.3(chr15:94300072-101810099)x1	ADAMTS17, ALDH1A3 +16 more	Copy number loss	not specified	GPathogenic
Select item 3063364	GRCh37/hg19 15q26.3(chr15:98679543-102429112)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not specified	GPathogenic
Select item 2671598	Single allele	ADAMTS17, ALDH1A3 +19 more	Deletion	not provided	GPathogenic
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 2572375	GRCh37/hg19 15q26.3(chr15:99021824-101196161)x1	ADAMTS17, ASB7 +9 more	Copy number loss	See cases	GPathogenic
Select item 2570917	GRCh37/hg19 15q26.3(chr15:99434554-99550600)x1	IGF1R, PGPEP1L	Copy number loss	not provided	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 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1808762	GRCh37/hg19 15q26.3(chr15:99521882-99706878)x3	PGPEP1L, SYNM +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808548	GRCh37/hg19 15q26.3(chr15:99521883-99592843)x1	PGPEP1L	Copy number loss	not provided	GUncertain significance
Select item 1807891	GRCh37/hg19 15q26.3(chr15:99507922-100153799)x3	LRRC28, MEF2A +3 more	Copy number gain	not provided	GUncertain significance
Select item 1526477	GRCh37/hg19 15q26.3(chr15:99439498-99720434)	IGF1R, PGPEP1L +2 more	Copy number loss	not specified	GPathogenic
Select item 1526476	GRCh37/hg19 15q26.3(chr15:99397722-99782050)	IGF1R, PGPEP1L +2 more	Copy number gain	not specified	GUncertain significance
Select item 1526475	GRCh37/hg19 15q26.3(chr15:99258367-102429112)	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not specified	GPathogenic
Select item 1526472	GRCh37/hg19 15q26.2-26.3(chr15:97223728-102429112)	ADAMTS17, ALDH1A3 +21 more	Copy number loss	not specified	GPathogenic
Select item 1526471	GRCh37/hg19 15q26.2-26.3(chr15:97026327-102429112)	ADAMTS17, ALDH1A3 +21 more	Copy number loss	not specified	GPathogenic
Select item 1526470	GRCh37/hg19 15q26.2-26.3(chr15:94836128-101302111)	ADAMTS17, ARRDC4 +13 more	Copy number loss	not specified	GPathogenic
Select item 1448913	NC_000015.9:g.(?_98947180)_(101791661_?)dup	ADAMTS17, ALDH1A3 +12 more	Duplication	not provided	GUncertain significance
Select item 1341270	GRCh37/hg19 15q26.3(chr15:99490397-99521812)x1	IGF1R, PGPEP1L	Copy number loss	not provided	GLikely pathogenic
Select item 1330207	GRCh37/hg19 15q26.3(chr15:99251887-99644855)x3	IGF1R, PGPEP1L	Copy number gain	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 1180505	GRCh37/hg19 15q26.1-26.3(chr15:92335751-102399741)x1	ADAMTS17, ALDH1A3 +29 more	Copy number loss	not provided	GPathogenic
Select item 1077189	Single allele	ADAMTS17, ALDH1A3 +12 more	Deletion	Chromosome 15q26-qter deletion syndrome	GLikely pathogenic
Select item 1062437	NC_000015.9:g.(?_98982860)_(99926307_?)dup	IGF1R, LRRC28 +3 more	Duplication	not provided	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 980652	GRCh37/hg19 15q26.3(chr15:99428748-99762146)x3	PGPEP1L, IGF1R +2 more	Copy number gain	not provided	GUncertain significance
Select item 980651	GRCh37/hg19 15q26.3(chr15:99508457-100415587)x3	PGPEP1L, SYNM +4 more	Copy number gain	not provided	GUncertain significance
Select item 980650	GRCh37/hg19 15q26.3(chr15:99408416-99877293)x3	SYNM, TTC23 +3 more	Copy number gain	not provided	GUncertain significance
Select item 980643	GRCh37/hg19 15q26.2-26.3(chr15:98275761-102358202)x1	ALDH1A3, SYNM +19 more	Copy number loss	not provided	GPathogenic
Select item 815759	GRCh37/hg19 15q26.3(chr15:99459795-100032533)x3	LRRC28, PGPEP1L +3 more	Copy number gain	not provided	GUncertain significance
Select item 815758	GRCh37/hg19 15q26.3(chr15:99212378-99653800)x3	PGPEP1L, IGF1R +1 more	Copy number gain	not provided	GUncertain significance
Select item 815756	GRCh37/hg19 15q26.3(chr15:98806822-100262828)x3	PGPEP1L, MEF2A +4 more	Copy number gain	not provided	GUncertain significance

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