CYP1A1[gene] - ClinVar

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Items: 84

	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 788807	NM_001319217.2(CYP1A1):c.1532G>T (p.Arg511Leu)	CYP1A1 (R482L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784617	NM_001319217.2(CYP1A1):c.1473C>T (p.Thr491=)	CYP1A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3079376	NM_001319217.2(CYP1A1):c.1456G>A (p.Val486Met)	CYP1A1 (V486M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033158	NM_001319217.2(CYP1A1):c.1444G>A (p.Val482Met)	CYP1A1 (V453M +1 more)	Single nucleotide variant (missense variant)	CYP1A1-related disorder	GBenign
Select item 2519265	NM_001319217.2(CYP1A1):c.1442G>C (p.Ser481Thr)	CYP1A1 (S481T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536407	NM_001319217.2(CYP1A1):c.1438T>C (p.Phe480Leu)	CYP1A1 (F480L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051186	NM_001319217.2(CYP1A1):c.1429C>T (p.Arg477Trp)	CYP1A1 (R448W +1 more)	Single nucleotide variant (missense variant)	CYP1A1-related disorder	GLikely benign
Select item 717748	NM_001319217.2(CYP1A1):c.1390C>A (p.Arg464Ser)	CYP1A1 (R435S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3060599	NM_001319217.2(CYP1A1):c.1384A>G (p.Ile462Val)	CYP1A1 (I433V +1 more)	Single nucleotide variant (missense variant)	CYP1A1-related disorder	GBenign
Select item 3056253	NM_001319217.2(CYP1A1):c.1382C>A (p.Thr461Asn)	CYP1A1 (T432N +1 more)	Single nucleotide variant (missense variant)	CYP1A1-related disorder	GBenign
Select item 784327	NM_001319217.2(CYP1A1):c.1374C>T (p.Ile458=)	CYP1A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3048416	NM_001319217.2(CYP1A1):c.1371del (p.Lys456_Cys457insTer)	CYP1A1	Deletion (nonsense)	CYP1A1-related disorder	GLikely benign
Select item 2244137	NM_001319217.2(CYP1A1):c.1357G>C (p.Gly453Arg)	CYP1A1 (G424R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777698	NM_001319217.2(CYP1A1):c.1318G>A (p.Asp440Asn)	CYP1A1 (D440N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2227202	NM_001319217.2(CYP1A1):c.1291C>T (p.Arg431Trp)	CYP1A1 (R431W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318991	NM_001319217.2(CYP1A1):c.1248T>A (p.His416Gln)	CYP1A1 (H416Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558833	NM_001319217.2(CYP1A1):c.1217G>A (p.Cys406Tyr)	CYP1A1 (C406Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515354	NM_001319217.2(CYP1A1):c.1198T>C (p.Tyr400His)	CYP1A1 (Y400H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3044912	NM_001319217.2(CYP1A1):c.1194C>G (p.Gly398=)	CYP1A1	Single nucleotide variant (synonymous variant +1 more)	CYP1A1-related disorder	GLikely benign
Select item 3079375	NM_001319217.2(CYP1A1):c.1167C>G (p.Ser389Arg)	CYP1A1 (S389R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541573	NM_001319217.2(CYP1A1):c.1162C>T (p.His388Tyr)	CYP1A1 (H388Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079373	NM_001319217.2(CYP1A1):c.1148C>A (p.Pro383His)	CYP1A1 (P383H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466379	NM_001319217.2(CYP1A1):c.1064G>A (p.Arg355Gln)	CYP1A1 (R355Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3357787	NM_001319217.2(CYP1A1):c.1020G>A (p.Gln340=)	CYP1A1	Single nucleotide variant (synonymous variant)	CYP1A1-related disorder	GLikely benign
Select item 2340074	NM_001319217.2(CYP1A1):c.1010C>A (p.Pro337His)	CYP1A1 (P337H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782007	NM_001319217.2(CYP1A1):c.857T>C (p.Ile286Thr)	CYP1A1 (I286T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2328984	NM_001319217.2(CYP1A1):c.851G>A (p.Ser284Asn)	CYP1A1 (S284N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569847	NM_001319217.2(CYP1A1):c.793A>G (p.Met265Val)	CYP1A1 (M265V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782008	NM_001319217.2(CYP1A1):c.712C>T (p.Pro238Ser)	CYP1A1 (P238S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3079380	NM_001319217.2(CYP1A1):c.674G>A (p.Gly225Glu)	CYP1A1 (G225E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079379	NM_001319217.2(CYP1A1):c.673G>A (p.Gly225Arg)	CYP1A1 (G225R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618621	NM_001319217.2(CYP1A1):c.640C>G (p.Leu214Val)	CYP1A1 (L214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368071	NM_001319217.2(CYP1A1):c.555C>A (p.Asn185Lys)	CYP1A1 (N185K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079378	NM_001319217.2(CYP1A1):c.548A>G (p.His183Arg)	CYP1A1 (H183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057782	NM_001319217.2(CYP1A1):c.519G>A (p.Thr173=)	CYP1A1	Single nucleotide variant (synonymous variant)	CYP1A1-related disorder	GLikely benign
Select item 2277849	NM_001319217.2(CYP1A1):c.377A>G (p.Asp126Gly)	CYP1A1 (D126G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024701	NM_001319217.2(CYP1A1):c.316del (p.Arg106fs)	CYP1A1 (R106fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 3043562	NM_001319217.2(CYP1A1):c.315C>A (p.Gly105=)	CYP1A1	Single nucleotide variant (synonymous variant)	CYP1A1-related disorder	GLikely benign
Select item 3055847	NM_001319217.2(CYP1A1):c.278G>A (p.Arg93Gln)	CYP1A1 (R93Q)	Single nucleotide variant (missense variant)	CYP1A1-related disorder	GLikely benign
Select item 3270497	NM_001319217.2(CYP1A1):c.268G>A (p.Asp90Asn)	CYP1A1 (D90N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776931	NM_001319217.2(CYP1A1):c.233T>C (p.Ile78Thr)	CYP1A1 (I78T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3038608	NM_001319217.2(CYP1A1):c.177G>A (p.Pro59=)	CYP1A1	Single nucleotide variant (synonymous variant)	CYP1A1-related disorder	GLikely benign
Select item 3058859	NM_001319217.2(CYP1A1):c.134G>A (p.Gly45Asp)	CYP1A1 (G45D)	Single nucleotide variant (missense variant)	CYP1A1-related disorder	GBenign
Select item 151221	GRCh38/hg38 15q24.1(chr15:74724230-74756760)x1	CYP1A1, CYP1A2 +2 more	Copy number loss	See cases	GLikely benign
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 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 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: 84