5046[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	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057831, LOC130057832 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	ABHD2, ACAN +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	LOC130057938, LOC130057939 +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	LOC121530602, LOC121530603 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC129390732, LOC129390733 +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 150870	GRCh38/hg38 15q26.2-26.3(chr15:97941427-101797926)x1	ADAMTS17, ALDH1A3 +171 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 154661	GRCh38/hg38 15q26.3(chr15:98467297-101843270)x1	ADAMTS17, ALDH1A3 +159 more	Copy number loss	See cases	GPathogenic
Select item 59405	GRCh38/hg38 15q26.3(chr15:98845807-101843270)x1	LOC130058070, LOC130058071 +148 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 154512	GRCh38/hg38 15q26.3(chr15:99338283-101843270)x3	ADAMTS17, ALDH1A3 +121 more	Copy number gain	See cases	GPathogenic
Select item 146679	GRCh38/hg38 15q26.3(chr15:100194660-101373649)x3	ADAMTS17, ALDH1A3 +69 more	Copy number gain	See cases	GUncertain significance
Select item 59408	GRCh38/hg38 15q26.3(chr15:100222791-101843270)x1	ADAMTS17, ALDH1A3 +84 more	Copy number loss	See cases	GPathogenic
Select item 155007	GRCh38/hg38 15q26.3(chr15:101045648-101457911)x3	CHSY1, LOC100507472 +29 more	Copy number gain	See cases	GLikely benign
Select item 147264	GRCh38/hg38 15q26.3(chr15:101170474-101474188)x3	CHSY1, LOC100507472 +20 more	Copy number gain	See cases	GBenign
Select item 145032	GRCh38/hg38 15q26.3(chr15:101240570-101468912)x3	CHSY1, LOC100507472 +17 more	Copy number gain	See cases	GBenign
Select item 788742	NM_002570.5(PCSK6):c.2891C>T (p.Thr964Met)	PCSK6, SNRPA1-DT (T890M +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 720144	NM_002570.5(PCSK6):c.2600C>T (p.Ala867Val)	PCSK6 (A867V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 778105	NM_002570.5(PCSK6):c.2557G>A (p.Gly853Arg)	PCSK6 (G779R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789334	NM_002570.5(PCSK6):c.2415A>G (p.Lys805=)	PCSK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645754	NM_002570.5(PCSK6):c.1587G>A (p.Ala529=)	PCSK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 510561	NM_002570.5(PCSK6):c.1575C>T (p.Thr525=)	PCSK6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 790156	NM_002570.5(PCSK6):c.1533-6C>G	PCSK6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 403287	NM_002570.5(PCSK6):c.1508T>C (p.Val503Ala)	PCSK6 (V503A)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 782341	NM_002570.5(PCSK6):c.1365G>A (p.Pro455=)	PCSK6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2645755	NM_002570.5(PCSK6):c.1071C>T (p.Cys357=)	PCSK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 149341	GRCh38/hg38 15q26.3(chr15:101395560-101843276)x3	LINC02348, LOC121847966 +15 more	Copy number gain	See cases	GLikely benign
Select item 145219	GRCh38/hg38 15q26.3(chr15:101395679-101452091)x1	PCSK6	Copy number loss	See cases	GBenign
Select item 750103	NM_002570.5(PCSK6):c.927C>T (p.Asp309=)	PCSK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645756	NM_002570.5(PCSK6):c.483C>T (p.Asn161=)	PCSK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 150187	GRCh38/hg38 15q26.3(chr15:101457852-101603946)x3	LINC02348, LOC126862256 +3 more	Copy number gain	See cases	GLikely benign
Select item 147260	GRCh38/hg38 15q26.3(chr15:101474129-101716545)x3	LINC02348, LOC126862257 +7 more	Copy number gain	See cases	GBenign
Select item 2974809	NM_002570.5(PCSK6):c.189_190dup (p.Pro64fs)	PCSK6 (P64fs)	Microsatellite (frameshift variant)	not provided	GBenign
Select item 2645757	NM_002570.5(PCSK6):c.81GGGGGGCGC[4] (p.Gly38_Pro39insAlaGlyGly)	PCSK6	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2645758	NM_002570.5(PCSK6):c.99G>T (p.Ala33=)	PCSK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3210472	NM_002570.5(PCSK6):c.8C>T (p.Pro3Leu)	PCSK6 (P3L)	Single nucleotide variant (missense variant)	not specified	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 3063384	GRCh37/hg19 15q26.1-26.3(chr15:94176550-102429112)x3	ADAMTS17, ALDH1A3 +23 more	Copy number gain	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 2685535	GRCh37/hg19 15q26.3(chr15:101919415-102429112)x1	OR4F15, OR4F6 +3 more	Copy number loss	not provided	GUncertain significance
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 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 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 1340557	GRCh37/hg19 15q26.3(chr15:101822986-101856106)x1	PCSK6, SNRPA1	Copy number loss	not provided	GUncertain significance
Select item 1340373	GRCh37/hg19 15q26.3(chr15:101659856-102429112)x3	CHSY1, OR4F15 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1340237	GRCh37/hg19 15q26.3(chr15:101783340-102429112)x3	CHSY1, OR4F15 +6 more	Copy number gain	not provided	GLikely benign
Select item 1340191	GRCh37/hg19 15q26.3(chr15:101876976-102209916)x3	PCSK6, TARS3 +1 more	Copy number gain	not provided	GLikely benign
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 983158	GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	ABHD2, ACAN +77 more	Copy number loss	See cases	GPathogenic
Select item 980653	GRCh37/hg19 15q26.3(chr15:100853021-102429112)x1	ASB7, CERS3 +12 more	Copy number loss	not provided	GUncertain significance
Select item 980647	GRCh37/hg19 15q26.3(chr15:101683593-102270458)x3	TARS3, PCSK6 +4 more	Copy number gain	not provided	GLikely benign
Select item 980646	GRCh37/hg19 15q26.3(chr15:101931916-102187903)x3	TM2D3, PCSK6	Copy number gain	not provided	GLikely benign
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 815765	GRCh37/hg19 15q26.3(chr15:101821632-101951752)x1	PCSK6, SNRPA1	Copy number loss	not provided	GLikely benign
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 688688	GRCh37/hg19 15q26.3(chr15:101781933-102133671)x3	CHSY1, PCSK6 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687526	GRCh37/hg19 15q26.3(chr15:101696490-102311245)x3	CHSY1, PCSK6 +4 more	Copy number gain	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 625753	GRCh37/hg19 15q26.2-26.3(chr15:96873212-102389423)	ADAMTS17, ALDH1A3 +22 more	Copy number loss	not provided	GPathogenic
Select item 564248	GRCh37/hg19 15q26.3(chr15:102006937-102331052)x1	PCSK6, TARS3 +1 more	Copy number loss	not provided	GLikely benign
Select item 564247	GRCh37/hg19 15q26.3(chr15:101734079-102429112)x3	SNRPA1, TM2D3 +6 more	Copy number gain	not provided	GLikely benign
Select item 564246	GRCh37/hg19 15q26.3(chr15:101595256-101899130)x3	LRRK1, SNRPA1 +3 more	Copy number gain	not provided	GLikely benign
Select item 564241	GRCh37/hg19 15q26.3(chr15:100526020-102429112)x1	SELENOS, TM2D3 +12 more	Copy number loss	not provided	GUncertain significance
Select item 564237	GRCh37/hg19 15q26.3(chr15:99928623-102429112)x3	OR4F6, MEF2A +14 more	Copy number gain	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	AAGAB, ABHD17C +523 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 443541	GRCh37/hg19 15q26.3(chr15:101569237-102344434)x3	CHSY1, LRRK1 +5 more	Copy number gain	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)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic

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