25250[HGNC] - ClinVar

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Items: 78

	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 57140	GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	ADPGK, ADPGK-AS1 +196 more	Copy number loss	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	ABHD17C, ABHD2 +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 2478024	NM_001365225.1(ADPGK):c.1422T>G (p.Ile474Met)	ADPGK (I351M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090125	NM_001365225.1(ADPGK):c.1286C>T (p.Ala429Val)	ADPGK (A289V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222304	NM_001365225.1(ADPGK):c.1271G>A (p.Arg424Gln)	ADPGK (R185Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460595	NM_001365225.1(ADPGK):c.1265C>A (p.Thr422Asn)	ADPGK (T183N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090119	NM_001365225.1(ADPGK):c.1259T>C (p.Ile420Thr)	ADPGK (I281T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090118	NM_001365225.1(ADPGK):c.1143C>A (p.Phe381Leu)	ADPGK (F259L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396736	NM_001365225.1(ADPGK):c.953C>T (p.Ala318Val)	ADPGK (A179V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524625	NM_001365225.1(ADPGK):c.929T>C (p.Ile310Thr)	ADPGK (I310T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273509	NM_001365225.1(ADPGK):c.928A>G (p.Ile310Val)	ADPGK (I71V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090179	NM_001365225.1(ADPGK):c.859G>C (p.Asp287His)	ADPGK (D165H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252862	NM_001365225.1(ADPGK):c.782C>G (p.Ser261Cys)	ADPGK (S139C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273484	NM_001365225.1(ADPGK):c.772G>C (p.Val258Leu)	ADPGK (V136L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249323	NM_001365225.1(ADPGK):c.733G>A (p.Val245Met)	ADPGK (V123M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090172	NM_001365225.1(ADPGK):c.700G>A (p.Asp234Asn)	ADPGK (D112N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3090169	NM_001365225.1(ADPGK):c.683G>A (p.Arg228Gln)	ADPGK (R228Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3273470	NM_001365225.1(ADPGK):c.670C>T (p.Pro224Ser)	ADPGK (P102S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3090162	NM_001365225.1(ADPGK):c.625A>G (p.Ile209Val)	ADPGK (I209V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2541301	NM_001365225.1(ADPGK):c.622C>T (p.Leu208Phe)	ADPGK (L86F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3090156	NM_001365225.1(ADPGK):c.558T>G (p.His186Gln)	ADPGK (H64Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362968	NM_001365225.1(ADPGK):c.550A>G (p.Lys184Glu)	ADPGK (K184E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2478025	NM_001365225.1(ADPGK):c.494A>G (p.Gln165Arg)	ADPGK (Q165R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3090147	NM_001365225.1(ADPGK):c.464A>G (p.Tyr155Cys)	ADPGK (Y33C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3273489	NM_001365225.1(ADPGK):c.437C>T (p.Ala146Val)	ADPGK (A146V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090144	NM_001365225.1(ADPGK):c.433G>C (p.Val145Leu)	ADPGK (V23L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273499	NM_001365225.1(ADPGK):c.422A>T (p.Asp141Val)	ADPGK (D19V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455399	NM_001365225.1(ADPGK):c.421G>A (p.Asp141Asn)	ADPGK (D141N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454873	NM_001365225.1(ADPGK):c.395T>C (p.Phe132Ser)	ADPGK (F132S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090137	NM_001365225.1(ADPGK):c.316C>T (p.His106Tyr)	ADPGK (H106Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2484240	NM_001365225.1(ADPGK):c.239A>C (p.Asn80Thr)	ADPGK (N80T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3273520	NM_001365225.1(ADPGK):c.187G>T (p.Ala63Ser)	ADPGK, ADPGK-AS1 +1 more (A63S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3090135	NM_001365225.1(ADPGK):c.187G>A (p.Ala63Thr)	ADPGK, ADPGK-AS1 +1 more (A63T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2518516	NM_001365225.1(ADPGK):c.173C>T (p.Ala58Val)	ADPGK, ADPGK-AS1 +1 more (A58V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3090131	NM_001365225.1(ADPGK):c.155C>T (p.Ser52Phe)	ADPGK, ADPGK-AS1 +1 more (S52F)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2251335	NM_001365225.1(ADPGK):c.121C>G (p.Leu41Val)	ADPGK, ADPGK-AS1 +1 more (L41V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3273530	NM_001365225.1(ADPGK):c.101C>T (p.Ser34Phe)	ADPGK, ADPGK-AS1 +1 more (S34F)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3273478	NM_001365225.1(ADPGK):c.36C>A (p.Phe12Leu)	ADPGK, ADPGK-AS1 +1 more (F12L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2601474	NM_001365225.1(ADPGK):c.34T>A (p.Phe12Ile)	ADPGK, ADPGK-AS1 +1 more (F12I)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3090127	NM_001365225.1(ADPGK):c.13C>T (p.Arg5Cys)	ADPGK, ADPGK-AS1 +1 more (R5C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3243817	NC_000015.9:g.(?_72978569)_(75190071_?)del	ADPGK, ARID3B +29 more	Deletion	Brugada syndrome 8	GUncertain significance
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 2427095	NC_000015.9:g.(?_72978569)_(75190071_?)dup	ADPGK, ARID3B +29 more	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 2425358	NC_000015.9:g.(?_72847592)_(73660611_?)dup	ADPGK, ARIH1 +4 more	Duplication	Brugada syndrome 8	GUncertain significance
Select item 2423198	NC_000015.9:g.(?_72636418)_(73660611_?)dup	ADPGK, ARIH1 +6 more	Duplication	Tay-Sachs disease	GUncertain significance
Select item 1458323	NC_000015.9:g.(?_72103084)_(74244178_?)del	ADPGK, ARIH1 +19 more	Deletion	Tay-Sachs disease	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	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980531	GRCh37/hg19 15q23-24.1(chr15:70268937-74098081)x1	BBS4, NR2E3 +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 831142	NC_000015.10:g.(?_72353681)_(73368280_?)dup	NEO1, TMEM202 +6 more	Duplication	Brugada syndrome 8	GUncertain significance
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 685982	GRCh37/hg19 15q24.1(chr15:72825914-73067234)x1	ADPGK, ARIH1 +2 more	Copy number loss	not provided	GUncertain significance
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	AAGAB, ABHD17C +523 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)	AAGAB, ABHD17C +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	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
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 +279 more	Copy number gain	See cases	GPathogenic

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Items: 78