28107[HGNC] - ClinVar

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Items: 64

	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 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 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 58078	GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3	ADPGK, ADPGK-AS1 +204 more	Copy number gain	See cases	GPathogenic
Select item 545182	Single allele	LOC130057525, LOC130057526 +205 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 154681	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1	LOC130057584, LOC130057585 +202 more	Copy number loss	See cases	GPathogenic
Select item 148272	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1	ADPGK, ADPGK-AS1 +195 more	Copy number loss	See cases	GLikely pathogenic
Select item 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	ADPGK, ADPGK-AS1 +236 more	Copy number loss	See cases	GPathogenic
Select item 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	LOC130057567, LOC130057568 +243 more	Copy number loss	See cases	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 3309102	NM_021823.5(PPCDC):c.31G>C (p.Ala11Pro)	PPCDC (A11P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783717	NM_021823.5(PPCDC):c.66G>T (p.Val22=)	PPCDC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3309100	NM_021823.5(PPCDC):c.187C>A (p.Gln63Lys)	LOC126862182, PPCDC (Q63K)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3217052	NM_021823.5(PPCDC):c.211A>C (p.Ser71Arg)	LOC126862182, PPCDC (S71R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2511283	NM_021823.5(PPCDC):c.214G>A (p.Asp72Asn)	LOC126862182, PPCDC (D72N)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2486103	NM_021823.5(PPCDC):c.218C>A (p.Ala73Asp)	LOC126862182, PPCDC (A73D)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2457918	NM_021823.5(PPCDC):c.226T>C (p.Trp76Arg)	LOC126862182, PPCDC (W76R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2607850	NM_021823.5(PPCDC):c.228G>C (p.Trp76Cys)	LOC126862182, PPCDC (W76C)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1273465	NM_021823.5(PPCDC):c.234A>G (p.Ile78Met)	PPCDC (I46M +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 738513	NM_021823.5(PPCDC):c.258T>A (p.Val86=)	PPCDC	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2301511	NM_021823.5(PPCDC):c.367G>A (p.Val123Ile)	PPCDC (V123I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3217053	NM_021823.5(PPCDC):c.373C>T (p.Arg125Trp)	PPCDC (R125W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274416	NM_021823.5(PPCDC):c.385C>G (p.Arg129Gly)	PPCDC (R6G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515208	NM_021823.5(PPCDC):c.401T>C (p.Leu134Pro)	PPCDC (L102P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382462	NM_021823.5(PPCDC):c.410C>T (p.Pro137Leu)	PPCDC (P105L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358777	NM_021823.5(PPCDC):c.452A>G (p.Gln151Arg)	PPCDC (Q151R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309099	NM_021823.5(PPCDC):c.514G>A (p.Val172Met)	PPCDC (V129M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529916	NM_021823.5(PPCDC):c.514G>C (p.Val172Leu)	PPCDC (V140L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713526	NM_021823.5(PPCDC):c.530-8G>C	PPCDC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 742750	NM_021823.5(PPCDC):c.561C>T (p.Ile187=)	PPCDC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2357060	NM_021823.5(PPCDC):c.562G>A (p.Val188Met)	PPCDC (V188M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243780	NC_000015.9:g.(?_74219125)_(77329517_?)del	ARID3B, C15orf39 +47 more	Deletion	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 3063378	GRCh37/hg19 15q24.1-24.2(chr15:74823917-75455431)x3	ARID3B, CLK3 +14 more	Copy number gain	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 2574692	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232)	ADPGK, ARID3B +48 more	Copy number loss	Chromosome 15q24 deletion syndrome	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 1808905	GRCh37/hg19 15q24.1-24.2(chr15:75167794-75459288)x1	COX5A, FAM219B +4 more	Copy number loss	not provided	GUncertain significance
Select item 1808735	GRCh37/hg19 15q24.1-24.3(chr15:74353736-77884397)x1	ARID3B, C15orf39 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703679	GRCh37/hg19 15q24.1-24.2(chr15:74398068-76054094)	ARID3B, C15orf39 +34 more	Copy number loss	Hearing impairment	GPathogenic
Select item 1353978	NC_000015.9:g.(?_72978569)_(75722716_?)del	ADPGK, ARID3B +41 more	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980532	GRCh37/hg19 15q24.1-24.2(chr15:74398162-76054094)x1	ARID3B, C15orf39 +34 more	Copy number loss	not provided	GPathogenic
Select item 815734	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1	ADPGK, ARID3B +37 more	Copy number loss	not provided	GPathogenic
Select item 688538	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75544524)x1	ADPGK, ARID3B +36 more	Copy number loss	not provided	GPathogenic
Select item 687513	GRCh37/hg19 15q24.1-24.2(chr15:72963271-76064900)x3	ADPGK, ARID3B +47 more	Copy number gain	not provided	GPathogenic
Select item 687381	GRCh37/hg19 15q24.1-24.2(chr15:72926922-75544524)x1	ADPGK, ARID3B +36 more	Copy number loss	not provided	GPathogenic
Select item 685759	GRCh37/hg19 15q24.2(chr15:75309345-75930806)x3	C15orf39, COMMD4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 564218	GRCh37/hg19 15q24.1-24.2(chr15:75078195-75862756)x1	SCAMP2, ULK3 +17 more	Copy number loss	not provided	GPathogenic
Select item 564215	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1	ADPGK, ARID3B +48 more	Copy number loss	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 560117	Single allele	ADPGK, ARID3B +37 more	Deletion	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443649	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1	ADPGK, ARID3B +37 more	Copy number loss	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 441056	GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1	ADPGK, STOML1 +48 more	Copy number loss	not provided	Gnot provided
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 394390	GRCh37/hg19 15q24.2(chr15:75335785-75380978)x1	PPCDC	Copy number loss	See cases	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 254015	GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3	ARID3B, C15orf39 +49 more	Copy number gain	See cases	GUncertain significance
Select item 253605	GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3	ADPGK, ARID3B +47 more	Copy number gain	See cases	GPathogenic
Select item 253560	GRCh37/hg19 15q24.1-24.2(chr15:72958539-75569605)x1	ADPGK, ARID3B +37 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

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Items: 64