ClinVar for Gene (Select 64927) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1808581	GRCh37/hg19 15q26.3(chr15:99744524-99847122)x1	LRRC28, TTC23	Copy number loss	not provided	GUncertain significance
Select item 1808231	GRCh37/hg19 15q26.3(chr15:99772763-100195207)x3	LRRC28, MEF2A +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808054	GRCh37/hg19 15q26.3(chr15:99722842-99760335)x1	TTC23	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 1526478	GRCh37/hg19 15q26.3(chr15:99682151-100147153)	LRRC28, MEF2A +1 more	Copy number gain	not specified	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 1340146	GRCh37/hg19 15q26.3(chr15:99722958-99760335)x1	TTC23	Copy number loss	not provided	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 917963	NM_001288615.3(TTC23):c.456-1G>T	LOC126862246, TTC23	Single nucleotide variant (splice acceptor variant)	Orofaciodigital syndrome	GBenign
Select item 815761	GRCh37/hg19 15q26.3(chr15:99636901-99762146)x1	TTC23, SYNM	Copy number loss	not provided	GUncertain significance
Select item 815759	GRCh37/hg19 15q26.3(chr15:99459795-100032533)x3	LRRC28, PGPEP1L +3 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
Select item 815755	GRCh37/hg19 15q26.3(chr15:98795669-102429112)x1	OR4F15, PGPEP1L +19 more	Copy number loss	not provided	GPathogenic
Select item 815754	GRCh37/hg19 15q26.3(chr15:98686212-102429112)x1	SYNM, CHSY1 +19 more	Copy number loss	not provided	GPathogenic
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 805881	GRCh37/hg19 15q26.2-26.3(chr15:96878099-102397836)x1	OR4F6, PCSK6 +22 more	Copy number loss	Chromosome 15q26-qter deletion syndrome	GPathogenic
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 625753	GRCh37/hg19 15q26.2-26.3(chr15:96873212-102389423)	ADAMTS17, ALDH1A3 +22 more	Copy number loss	not provided	GPathogenic
Select item 564236	GRCh37/hg19 15q26.3(chr15:99722841-99760335)x1	TTC23	Copy number loss	not provided	GUncertain significance
Select item 564235	GRCh37/hg19 15q26.3(chr15:99681869-100231283)x3	MEF2A, TTC23 +1 more	Copy number gain	not provided	GLikely benign
Select item 564234	GRCh37/hg19 15q26.3(chr15:99350059-100112556)x3	PGPEP1L, MEF2A +4 more	Copy number gain	not provided	GUncertain significance
Select item 564233	GRCh37/hg19 15q26.3(chr15:99198450-99913428)x3	IGF1R, LRRC28 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564232	GRCh37/hg19 15q26.2-26.3(chr15:98144229-99857338)x1	PGPEP1L, ARRDC4 +4 more	Copy number loss	not provided	GLikely pathogenic
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 443865	GRCh37/hg19 15q26.1-26.3(chr15:93148806-102429112)x3	ADAMTS17, ALDH1A3 +26 more	Copy number gain	See cases	GPathogenic
Select item 443651	GRCh37/hg19 15q26.3(chr15:98737093-102429112)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	See cases	GPathogenic
Select item 443543	GRCh37/hg19 15q26.2-26.3(chr15:96913435-102429112)x1	ADAMTS17, ALDH1A3 +21 more	Copy number loss	See cases	GPathogenic
Select item 443542	GRCh37/hg19 15q26.2-26.3(chr15:95136822-102045577)x1	ADAMTS17, ALDH1A3 +18 more	Copy number loss	See cases	GPathogenic
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 443037	GRCh37/hg19 15q26.3(chr15:99521882-99778744)x1	PGPEP1L, SYNM +1 more	Copy number loss	See cases	GUncertain significance
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 442426	GRCh37/hg19 15q26.2-26.3(chr15:98220018-102429112)x1	CERS3, CHSY1 +20 more	Copy number loss	See cases	GPathogenic
Select item 395723	GRCh37/hg19 15q26.3(chr15:98818228-102399760)	ADAMTS17, ALDH1A3 +19 more	Copy number loss	See cases	GPathogenic
Select item 395560	GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3	ABHD2, ACAN +79 more	Copy number gain	See cases	GPathogenic
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 395056	GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798)	ADAMTS17, ALDH1A3 +51 more	Copy number loss	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 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253671	GRCh37/hg19 15q26.1-26.3(chr15:92197136-102354857)x1	ALDH1A3, SNRPA1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253543	GRCh37/hg19 15q26.2-26.3(chr15:98458265-102354857)x1	IGF1R, PCSK6 +19 more	Copy number loss	See cases	GPathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	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 155459	GRCh38/hg38 15q26.3(chr15:98280297-101888909)x3	ADAMTS17, ALDH1A3 +165 more	Copy number gain	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 155109	GRCh38/hg38 15q26.2-26.3(chr15:97681713-101920998)x1	ADAMTS17, ALDH1A3 +179 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 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
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 154661	GRCh38/hg38 15q26.3(chr15:98467297-101843270)x1	ADAMTS17, ALDH1A3 +159 more	Copy number loss	See cases	GPathogenic
Select item 153592	GRCh38/hg38 15q26.3(chr15:98892707-99182753)x1	IGF1R, LOC126862245 +18 more	Copy number loss	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 152930	GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3	ADAMTS17, ALDH1A3 +228 more	Copy number gain	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 150870	GRCh38/hg38 15q26.2-26.3(chr15:97941427-101797926)x1	ADAMTS17, ALDH1A3 +171 more	Copy number loss	See cases	GPathogenic
Select item 150540	GRCh38/hg38 15q26.3(chr15:99074961-99338359)x3	LOC126862246, LOC129390743 +11 more	Copy number gain	See cases	GLikely benign
Select item 149682	GRCh38/hg38 15q26.3(chr15:98976591-99598500)x3	LINC02244, LOC105371017 +35 more	Copy number gain	See cases	GUncertain significance
Select item 149267	GRCh38/hg38 15q26.3(chr15:98873545-99363146)x3	IGF1R, LOC126862245 +24 more	Copy number gain	See cases	GUncertain significance
Select item 148287	GRCh38/hg38 15q26.3(chr15:99057691-99598500)x3	LINC02244, LOC105371017 +30 more	Copy number gain	See cases	GLikely benign
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 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 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 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 147414	GRCh38/hg38 15q26.3(chr15:98976591-99456909)x4	LINC02244, LOC105371017 +25 more	Copy number gain	See cases	GUncertain significance
Select item 146842	GRCh38/hg38 15q26.3(chr15:98900305-99156016)x1	IGF1R, LOC130058004 +17 more	Copy number loss	See cases	GUncertain significance
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 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	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 145641	GRCh38/hg38 15q26.3(chr15:99155987-101843270)x1	ADAMTS17, ALDH1A3 +127 more	Copy number loss	See cases	GPathogenic
Select item 145033	GRCh38/hg38 15q26.3(chr15:99248720-99456850)x1	LINC02244, LOC105371017 +9 more	Copy number loss	See cases	GUncertain significance
Select item 144251	GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1	LYSMD4, MCTP2 +224 more	Copy number loss	See cases	GPathogenic

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