CYP1A2[gene] - ClinVar

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Items: 71

	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 151221	GRCh38/hg38 15q24.1(chr15:74724230-74756760)x1	CYP1A1, CYP1A2 +2 more	Copy number loss	See cases	GLikely benign
Select item 511079	NM_000761.5(CYP1A2):c.-9-154C>A	CYP1A2, LOC110467516	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2299327	NM_000761.5(CYP1A2):c.22C>T (p.Pro8Ser)	CYP1A2 (P8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353406	NM_000761.5(CYP1A2):c.142T>G (p.Trp48Gly)	CYP1A2 (W48G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309247	NM_000761.5(CYP1A2):c.204G>A (p.Met68Ile)	CYP1A2 (M68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486390	NM_000761.5(CYP1A2):c.220G>A (p.Asp74Asn)	CYP1A2 (D74N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079382	NM_000761.5(CYP1A2):c.278C>T (p.Thr93Ile)	CYP1A2 (T93I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739045	NM_000761.5(CYP1A2):c.306C>T (p.Gly102=)	CYP1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713008	NM_000761.5(CYP1A2):c.393G>A (p.Pro131=)	CYP1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2537706	NM_000761.5(CYP1A2):c.401C>T (p.Ala134Val)	CYP1A2 (A134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368325	NM_000761.5(CYP1A2):c.559G>A (p.Asp187Asn)	CYP1A2 (D187N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2380849	NM_000761.5(CYP1A2):c.643G>A (p.Glu215Lys)	CYP1A2 (E215K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338425	NM_000761.5(CYP1A2):c.688G>C (p.Ala230Pro)	CYP1A2 (A230P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338369	NM_000761.5(CYP1A2):c.778T>C (p.Phe260Leu)	CYP1A2 (F260L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721012	NM_000761.5(CYP1A2):c.841C>T (p.Arg281Trp)	CYP1A2 (R281W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2518550	NM_000761.5(CYP1A2):c.869A>G (p.His290Arg)	CYP1A2 (H290R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079383	NM_000761.5(CYP1A2):c.896G>T (p.Gly299Val)	CYP1A2 (G299V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270499	NM_000761.5(CYP1A2):c.927C>A (p.Asn309Lys)	CYP1A2 (N309K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079384	NM_000761.5(CYP1A2):c.993G>A (p.Met331Ile)	CYP1A2 (M331I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270498	NM_000761.5(CYP1A2):c.1087C>A (p.Pro363Thr)	CYP1A2 (P363T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079381	NM_000761.5(CYP1A2):c.1154C>A (p.Thr385Asn)	CYP1A2 (T385N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207969	NM_000761.5(CYP1A2):c.1283G>T (p.Arg428Leu)	CYP1A2 (R428L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549447	NM_000761.5(CYP1A2):c.1400A>G (p.Glu467Gly)	CYP1A2 (E467G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316484	NM_000761.5(CYP1A2):c.1402A>C (p.Ile468Leu)	CYP1A2 (I468L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742234	NM_000761.5(CYP1A2):c.1459G>A (p.Val487Met)	CYP1A2 (V487M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2301607	NM_000761.5(CYP1A2):c.1529G>T (p.Arg510Leu)	CYP1A2 (R510L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768718	NM_000761.5(CYP1A2):c.1548T>C (p.Asn516=)	CYP1A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 675798	NM_000761.5(CYP1A2):c.1548= (p.Asn516=)	CYP1A2	Variation (no sequence alteration)	not provided	GBenign
Select item 3243817	NC_000015.9:g.(?_72978569)_(75190071_?)del	ADPGK, ARID3B +29 more	Deletion	Brugada syndrome 8	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 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 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 1340913	GRCh37/hg19 15q24.1(chr15:75047425-75073422)x1	CYP1A2	Copy number loss	not provided	GUncertain significance
Select item 1340749	GRCh37/hg19 15q24.1(chr15:75022462-75042747)x1	CYP1A2	Copy number loss	not provided	GLikely benign
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 815735	GRCh37/hg19 15q24.1-24.2(chr15:75039267-75268029)x1	CPLX3, COX5A +8 more	Copy number loss	not provided	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 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 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: 71