"GeneDx"[submitter] AND "CYP2D6"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 516889	NM_000106.6(CYP2D6):c.1457= (p.Ser486=)	CYP2D6	Single nucleotide variant (no sequence alteration)	not provided +1 more	GBenign/Likely benign
Select item 242701	NM_000106.6(CYP2D6):c.1457G>C (p.Ser486Thr)	CYP2D6 (S486T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign; other
Select item 598263	NM_000106.6(CYP2D6):c.1012G>A (p.Val338Met)	CYP2D6 (V338M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign; other
Select item 39381	CYP2D6*41	CYP2D6	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign; drug response; other
Select item 39385	NM_000106.5(CYP2D6):c.971A>C (p.His324Pro)	CYP2D6 (H324P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign; other
Select item 516890	NM_000106.6(CYP2D6):c.886= (p.Arg296=)	CYP2D6	Single nucleotide variant (no sequence alteration)	not specified +1 more	GBenign/Likely benign
Select item 242771	NM_000106.6(CYP2D6):c.886C>T (p.Arg296Cys)	CYP2D6 (R296C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 617719	NM_000106.6(CYP2D6):c.841_843del (p.Lys281del)	CYP2D6 (K281del +1 more)	Deletion (inframe_deletion)	not provided	GLikely benign; other
Select item 16894	NM_000106.6(CYP2D6):c.775del (p.Arg259fs)	CYP2D6 (R259fs +1 more)	Deletion (frameshift variant)	not provided	GLikely benign; other
Select item 513099	NM_000106.6(CYP2D6):c.709G>T (p.Ala237Ser)	CYP2D6 (A237S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 16889	CYP2D6*4	CYP2D6	Single nucleotide variant (splice acceptor variant)	Deutetrabenazine response +3 more	GLikely benign; drug response; other
Select item 39399	NM_000106.5(CYP2D6):c.*264G>A (p.Gly169Arg)	CYP2D6 (G169R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign; other
Select item 16892	NM_000106.5(CYP2D6):c.505G>T (p.Gly169Ter)	CYP2D6 (G169*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign; other
Select item 675907	NM_000106.6(CYP2D6):c.496A>G (p.Asn166Asp)	CYP2D6 (N166D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 16891	CYP2D6*6	CYP2D6 (W152fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GBenign/Likely benign; drug response; other
Select item 39379	CYP2D6*17	CYP2D6 (T107I)	Single nucleotide variant (missense variant)	not provided	GLikely benign; other
Select item 676319	NM_000106.6(CYP2D6):c.181-1G>C	CYP2D6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely benign
Select item 678343	NM_000106.6(CYP2D6):c.137dup (p.Leu47fs)	CYP2D6 (L47fs)	Duplication (frameshift variant)	not provided	GLikely benign
Select item 39387	NM_000106.5(CYP2D6):c.124G>A (p.Gly42Arg)	CYP2D6 (G42R)	Single nucleotide variant (missense variant)	not provided	GLikely benign; other
Select item 16893	CYP2D6*10	CYP2D6 (P34S)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign; drug response; other
Select item 676320	NM_000106.6(CYP2D6):c.31G>A (p.Val11Met)	CYP2D6 (V11M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 253756	GRCh37/hg19 22q13.2(chr22:42207144-42776457)x1	SMDT1, NDUFA6 +13 more	Copy number loss	See cases	GUncertain significance
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 25