ClinVar for Gene (Select 1565) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270588	NM_000106.6(CYP2D6):c.314C>A (p.Pro105His)	CYP2D6 (P105H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270587	NM_000106.6(CYP2D6):c.958C>T (p.Leu320Phe)	CYP2D6 (L269F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248113	NC_000022.10:g.(?_42523805)_(42575728_?)dup	CYP2D6, TCF20	Duplication	not provided	GLikely benign
Select item 3248109	NC_000022.10:g.(?_42519405)_(42571594_?)del	CYP2D6, TCF20	Deletion	not provided	GPathogenic
Select item 3148861	GRCh37/hg19 22q13.2(chr22:41591000-42869987)x1	ACO2, CCDC134 +29 more	Copy number loss	not provided	GUncertain significance
Select item 3079539	NM_000106.6(CYP2D6):c.94C>T (p.Arg32Cys)	CYP2D6 (R32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079538	NM_000106.6(CYP2D6):c.853A>T (p.Asn285Tyr)	CYP2D6 (N234Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079537	NM_000106.6(CYP2D6):c.598C>G (p.Pro200Ala)	CYP2D6 (P149A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079536	NM_000106.6(CYP2D6):c.314C>T (p.Pro105Leu)	CYP2D6 (P105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079535	NM_000106.6(CYP2D6):c.305C>T (p.Pro102Leu)	CYP2D6 (P102L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079534	NM_000106.6(CYP2D6):c.1241G>A (p.Arg414His)	CYP2D6 (R414H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2653242	NC_000022.11:g.42130929T>C	CYP2D6, LOC110740340	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 2653241	NM_000106.6(CYP2D6):c.352+16G>A	CYP2D6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2653240	NM_000106.6(CYP2D6):c.975G>A (p.Pro325=)	CYP2D6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653239	NM_000106.6(CYP2D6):c.1009G>A (p.Asp337Asn)	CYP2D6 (D286N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653238	NM_000106.6(CYP2D6):c.1064A>G (p.Tyr355Cys)	CYP2D6 (Y304C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653237	NM_000106.6(CYP2D6):c.1203G>A (p.Ser401=)	CYP2D6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653236	NM_000106.6(CYP2D6):c.1332C>T (p.Leu444=)	CYP2D6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2593898	NM_000106.6(CYP2D6):c.1324G>A (p.Ala442Thr)	CYP2D6 (A391T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546859	NM_000106.6(CYP2D6):c.679G>C (p.Val227Leu)	CYP2D6 (V176L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519209	NM_000106.6(CYP2D6):c.1144A>G (p.Ile382Val)	CYP2D6 (I331V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516274	NM_000106.6(CYP2D6):c.1075G>A (p.Val359Met)	CYP2D6 (V359M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486829	NM_000106.6(CYP2D6):c.802C>A (p.Pro268Thr)	CYP2D6 (P217T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485653	NM_000106.6(CYP2D6):c.598C>T (p.Pro200Ser)	CYP2D6 (P200S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467185	NM_000106.6(CYP2D6):c.245A>C (p.Asn82Thr)	CYP2D6 (N82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460658	NM_000106.6(CYP2D6):c.688C>T (p.Leu230Phe)	CYP2D6 (L230F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457990	NM_000106.6(CYP2D6):c.468G>C (p.Glu156Asp)	CYP2D6 (E156D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425394	NC_000022.10:g.(?_42456283)_(43089957_?)del	A4GALT, ATP5MGL +11 more	Deletion	not provided	GPathogenic
Select item 2397540	NM_000106.6(CYP2D6):c.910T>C (p.Ser304Pro)	CYP2D6 (S304P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378169	NM_000106.6(CYP2D6):c.445C>A (p.Leu149Met)	CYP2D6 (L149M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362239	NM_000106.6(CYP2D6):c.1386G>C (p.Gln462His)	CYP2D6 (Q411H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349106	NM_000106.6(CYP2D6):c.502T>G (p.Ser168Ala)	CYP2D6 (S168A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2342095	NM_000106.6(CYP2D6):c.76C>T (p.Arg26Cys)	CYP2D6 (R26C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341282	NM_000106.6(CYP2D6):c.376C>A (p.Pro126Thr)	CYP2D6 (P126T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325972	NM_000106.6(CYP2D6):c.1112C>T (p.Pro371Leu)	CYP2D6 (P371L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296692	NM_000106.6(CYP2D6):c.640A>C (p.Lys214Gln)	CYP2D6 (K214Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287538	NM_000106.6(CYP2D6):c.1055A>T (p.His352Leu)	CYP2D6 (H352L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279487	NM_000106.6(CYP2D6):c.1471G>A (p.Glu491Lys)	CYP2D6 (E440K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257333	NM_000106.6(CYP2D6):c.667G>T (p.Val223Leu)	CYP2D6 (V172L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1447656	NC_000022.10:g.(?_41277754)_(43089957_?)dup	ATP5MGL, CCDC134 +38 more	Duplication	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1077183	Single allele	A4GALT, ARFGAP3 +19 more	Deletion	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
Select item 997811	Single allele	WBP2NL, ARFGAP3 +21 more	Deletion	Intellectual disability	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 830235	CYP2D6*17	CYP2D6 (T107I +4 more)	Single nucleotide variant (missense variant)	Tamoxifen response +1 more	Gdrug response
Select item 829713	NM_000106.6(CYP2D6):c.*42T>C	CYP2D6	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829712	NM_000106.6(CYP2D6):c.*38A>G	CYP2D6	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829711	NM_000106.6(CYP2D6):c.1441T>C (p.Phe481Leu)	CYP2D6 (F430L +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829710	NM_000106.6(CYP2D6):c.1401G>A (p.Ser467=)	CYP2D6	Single nucleotide variant (synonymous variant)	Tramadol response	Gdrug response
Select item 829709	NM_000106.6(CYP2D6):c.1316-1G>A	CYP2D6	Single nucleotide variant (splice acceptor variant)	Tramadol response	Gdrug response
Select item 829708	NM_000106.6(CYP2D6):c.1315+48A>G	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829707	NM_000106.6(CYP2D6):c.1315+38G>A	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829706	NM_000106.6(CYP2D6):c.1315+32T>C	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829705	NM_000106.6(CYP2D6):c.1301T>A (p.Leu434Gln)	CYP2D6 (L383Q +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829704	NM_000106.6(CYP2D6):c.1285A>G (p.Lys429Glu)	CYP2D6 (K378E +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829703	NM_000106.6(CYP2D6):c.1235C>T (p.Pro412Leu)	CYP2D6 (P361L +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829702	NM_000106.6(CYP2D6):c.1222G>A (p.Val408Ile)	CYP2D6 (V408I +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829701	NM_000106.6(CYP2D6):c.1174-9=	CYP2D6	Variation (intron variant)	Tramadol response	Gdrug response
Select item 829700	NM_000106.6(CYP2D6):c.1174-35C>T	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829699	NM_000106.6(CYP2D6):c.1174-177G>A	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829698	NM_000106.6(CYP2D6):c.985+18A>C	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829697	NM_000106.6(CYP2D6):c.985+4A>G	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829696	NM_000106.6(CYP2D6):c.942G>A (p.Leu314=)	CYP2D6	Single nucleotide variant (synonymous variant)	Tramadol response	Gdrug response
Select item 829695	NM_000106.6(CYP2D6):c.941T>C (p.Leu314Pro)	CYP2D6 (L314P +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829694	NM_000106.6(CYP2D6):c.936C>T (p.Thr312=)	CYP2D6	Single nucleotide variant (synonymous variant)	Tramadol response	Gdrug response
Select item 829693	NM_000106.6(CYP2D6):c.906G>A (p.Leu302=)	CYP2D6	Single nucleotide variant (synonymous variant)	Tramadol response	Gdrug response
Select item 829692	NM_000106.6(CYP2D6):c.874G>A (p.Asp292Asn)	CYP2D6 (D241N +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829691	NM_000106.6(CYP2D6):c.873T>C (p.Asn291=)	CYP2D6	Single nucleotide variant (synonymous variant)	Tramadol response	Gdrug response
Select item 829690	NM_000106.6(CYP2D6):c.844-7T>C	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829689	NM_000106.6(CYP2D6):c.844-18G>C	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829688	NM_000106.6(CYP2D6):c.844-29G>A	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829687	NM_000106.6(CYP2D6):c.843+88A>G	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829686	NM_000106.6(CYP2D6):c.843+58A>G	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829685	NM_000106.6(CYP2D6):c.686T>C (p.Val229Ala)	CYP2D6 (V178A +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829684	NM_000106.6(CYP2D6):c.667-16G>A	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829683	NM_000106.6(CYP2D6):c.667-124C>T	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829682	NM_000106.6(CYP2D6):c.667-150G>A	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829681	NM_000106.6(CYP2D6):c.667-179T>C	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829680	NM_000106.6(CYP2D6):c.667-201del	CYP2D6	Deletion (intron variant)	Tramadol response	Gdrug response
Select item 829679	NM_000106.6(CYP2D6):c.667-202T>G	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829678	NM_000106.6(CYP2D6):c.667-205T>C	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829677	NM_000106.6(CYP2D6):c.667-208A>T	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829676	NM_000106.6(CYP2D6):c.667-213T>C	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829675	NM_000106.6(CYP2D6):c.666+214C>T	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829674	NM_000106.6(CYP2D6):c.666+206G>A	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829673	NM_000106.6(CYP2D6):c.666+165A>G	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829672	NM_000106.6(CYP2D6):c.666+117A>C	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829671	NM_000106.6(CYP2D6):c.666+107A>G	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829670	NM_000106.6(CYP2D6):c.666+90A>G	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829669	NM_000106.6(CYP2D6):c.505+5G>A	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829668	NM_000106.6(CYP2D6):c.425T>C (p.Leu142Ser)	CYP2D6 (L142S)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 829667	NM_000106.6(CYP2D6):c.422A>G (p.Asn141Ser)	CYP2D6 (N141S)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 829666	NM_000106.6(CYP2D6):c.410C>T (p.Ser137Phe)	CYP2D6 (S137F)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 829665	NM_000106.6(CYP2D6):c.408= (p.Val136=)	CYP2D6	Variation (no sequence alteration +1 more)	Tramadol response	Gdrug response
Select item 829664	NM_000106.6(CYP2D6):c.358T>C (p.Phe120Leu)	CYP2D6 (F120L)	Single nucleotide variant (missense variant +1 more)	Tramadol response	Gdrug response
Select item 829663	NM_000106.6(CYP2D6):c.353-21A>T	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829662	NM_000106.6(CYP2D6):c.353-81G>T	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829661	NM_000106.6(CYP2D6):c.353-83G>T	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response

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