"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CYP1A1" - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 717748	NM_001319217.2(CYP1A1):c.1390C>A (p.Arg464Ser)	CYP1A1 (R435S +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 782007	NM_001319217.2(CYP1A1):c.857T>C (p.Ile286Thr)	CYP1A1 (I286T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 782008	NM_001319217.2(CYP1A1):c.712C>T (p.Pro238Ser)	CYP1A1 (P238S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776931	NM_001319217.2(CYP1A1):c.233T>C (p.Ile78Thr)	CYP1A1 (I78T)	Single nucleotide variant (missense variant)	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 2427095	NC_000015.9:g.(?_72978569)_(75190071_?)dup	ADPGK, ARID3B +29 more	Duplication	Bardet-Biedl syndrome	GUncertain significance
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