"CYP1A1-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 784617	NM_001319217.2(CYP1A1):c.1473C>T (p.Thr491=)	CYP1A1	Single nucleotide variant (synonymous variant)	CYP1A1-related disorder +1 more	GBenign
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 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)	CYP1A1-related disorder +1 more	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)	CYP1A1-related disorder +1 more	GLikely benign
Select item 3048416	NM_001319217.2(CYP1A1):c.1371del (p.Lys456_Cys457insTer)	CYP1A1	Deletion (nonsense)	CYP1A1-related disorder	GLikely benign
Select item 777698	NM_001319217.2(CYP1A1):c.1318G>A (p.Asp440Asn)	CYP1A1 (D440N +1 more)	Single nucleotide variant (missense variant)	CYP1A1-related disorder +1 more	GLikely benign
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 3057782	NM_001319217.2(CYP1A1):c.519G>A (p.Thr173=)	CYP1A1	Single nucleotide variant (synonymous variant)	CYP1A1-related disorder	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 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