1565[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 325

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC112695092, LOC112695093 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067848, LOC130067849 +687 more	Copy number gain	See cases	GPathogenic
Select item 147621	GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3	ACO2, CCDC134 +109 more	Copy number gain	See cases	GPathogenic
Select item 147321	GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1	CCDC134, CENPM +91 more	Copy number loss	See cases	GUncertain significance
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	LOC130067673, LOC130067674 +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	SERHL2, SHANK3 +541 more	Copy number gain	See cases	GPathogenic
Select item 828915	NC_000022.11:g.42126146C>T	CYP2D6	Single nucleotide variant	Tramadol response	Gdrug response
Select item 828914	NC_000022.11:g.42126196T>C	CYP2D6	Single nucleotide variant	Tramadol response	Gdrug response
Select item 828913	NC_000022.11:g.42126211T>C	CYP2D6	Single nucleotide variant	Tramadol response	Gdrug response
Select item 828912	NC_000022.11:g.42126233A>G	CYP2D6	Single nucleotide variant	Tramadol response	Gdrug response
Select item 828911	NC_000022.11:g.42126242T>A	CYP2D6	Single nucleotide variant	Tramadol response	Gdrug response
Select item 828910	NC_000022.11:g.42126253T>C	CYP2D6	Single nucleotide variant	Tramadol response	Gdrug response
Select item 828909	NC_000022.11:g.42126310=	CYP2D6	Variation	Tramadol response	Gdrug response
Select item 828908	NC_000022.11:g.42126336A>G	CYP2D6	Single nucleotide variant	Tramadol response	Gdrug response
Select item 828907	NC_000022.11:g.42126390G>A	CYP2D6	Single nucleotide variant	Tramadol response	Gdrug response
Select item 828906	NC_000022.11:g.42126425A>T	CYP2D6	Single nucleotide variant	Tramadol response	Gdrug response
Select item 828905	NC_000022.11:g.42126462G>A	CYP2D6	Single nucleotide variant	Tramadol response	Gdrug response
Select item 16896	NC_000022.11:g.(?_42126499)_(42130881_?)dup	CYP2D6, LOC110740340	Duplication	Codeine response	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 2279487	NM_000106.6(CYP2D6):c.1471G>A (p.Glu491Lys)	CYP2D6 (E440K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 16895	NM_000106.5(CYP2D6):c.[886C>T;457G>C]	CYP2D6 (S486T +3 more)	Single nucleotide variant (missense variant)	Debrisoquine, ultrarapid metabolism of	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 2362239	NM_000106.6(CYP2D6):c.1386G>C (p.Gln462His)	CYP2D6 (Q411H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	Inborn genetic diseases	GUncertain significance
Select item 183246	NM_000106.6(CYP2D6):c.1321C>T (p.Arg441Cys)	CYP2D6 (R441C +1 more)	Single nucleotide variant (missense variant)	not provided	Gdrug response
Select item 183247	NM_000106.6(CYP2D6):c.1319G>A (p.Arg440His)	CYP2D6 (R440H +1 more)	Single nucleotide variant (missense variant)	not provided	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 2653237	NM_000106.6(CYP2D6):c.1203G>A (p.Ser401=)	CYP2D6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 828904	NM_000106.6(CYP2D6):c.1174-188T>C	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828903	NM_000106.6(CYP2D6):c.1174-215=	CYP2D6	Variation (intron variant)	Tramadol response	Gdrug response
Select item 828902	NM_000106.6(CYP2D6):c.1174-217A>G	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828901	NM_000106.6(CYP2D6):c.1174-222A>G	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828900	NM_000106.6(CYP2D6):c.1173+226T>C	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828899	NM_000106.6(CYP2D6):c.1173+91C>A	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828898	NM_000106.6(CYP2D6):c.1173+72G>A	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828897	NM_000106.6(CYP2D6):c.1173+43T>C	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828896	NM_000106.6(CYP2D6):c.1173+40=	CYP2D6	Variation (intron variant)	Tramadol response	Gdrug response
Select item 828895	NM_000106.6(CYP2D6):c.1173+37A>G	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828894	NM_000106.6(CYP2D6):c.1158C>T (p.Gly386=)	CYP2D6	Single nucleotide variant (synonymous variant)	Tramadol response	Gdrug response
Select item 2519209	NM_000106.6(CYP2D6):c.1144A>G (p.Ile382Val)	CYP2D6 (I331V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 828893	NM_000106.6(CYP2D6):c.1117G>A (p.Gly373Ser)	CYP2D6 (G373S +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 2325972	NM_000106.6(CYP2D6):c.1112C>T (p.Pro371Leu)	CYP2D6 (P371L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 828892	NM_000106.6(CYP2D6):c.1094G>A (p.Arg365His)	CYP2D6 (R314H +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 828891	NM_000106.6(CYP2D6):c.1091A>G (p.Gln364Arg)	CYP2D6 (Q364R +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 828890	NM_000106.6(CYP2D6):c.1090C>T (p.Gln364Ter)	CYP2D6 (Q313* +1 more)	Single nucleotide variant (nonsense)	Tramadol response	Gdrug response
Select item 2516274	NM_000106.6(CYP2D6):c.1075G>A (p.Val359Met)	CYP2D6 (V359M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2287538	NM_000106.6(CYP2D6):c.1055A>T (p.His352Leu)	CYP2D6 (H352L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 828889	NM_000106.6(CYP2D6):c.985+41A>G	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 39381	CYP2D6*41	CYP2D6	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign; drug response; other
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 183389	NM_000106.6(CYP2D6):c.963_981del (p.Met321fs)	CYP2D6 (M321fs +1 more)	Deletion (frameshift variant)	not provided	Gdrug response
Select item 2653240	NM_000106.6(CYP2D6):c.975G>A (p.Pro325=)	CYP2D6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2397540	NM_000106.6(CYP2D6):c.910T>C (p.Ser304Pro)	CYP2D6 (S304P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 829693	NM_000106.6(CYP2D6):c.906G>A (p.Leu302=)	CYP2D6	Single nucleotide variant (synonymous variant)	Tramadol response	Gdrug response
Select item 598267	Single allele	CYP2D6	Single nucleotide variant	not provided	Gother
Select item 516890	NM_000106.6(CYP2D6):c.886= (p.Arg296=)	CYP2D6	Single nucleotide variant (no sequence alteration)	not provided +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 specified +1 more	GBenign
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 828888	NM_000106.6(CYP2D6):c.843+46G>A	CYP2D6	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
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 828887	NM_000106.6(CYP2D6):c.836T>A (p.Met279Lys)	CYP2D6 (M279K +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 828886	NM_000106.6(CYP2D6):c.832G>A (p.Glu278Lys)	CYP2D6 (E227K +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 828885	NM_000106.6(CYP2D6):c.812T>C (p.Leu271Pro)	CYP2D6 (L271P +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 2486829	NM_000106.6(CYP2D6):c.802C>A (p.Pro268Thr)	CYP2D6 (P217T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 828884	NM_000106.6(CYP2D6):c.801C>A (p.Pro267=)	CYP2D6	Single nucleotide variant (synonymous variant)	Tramadol response	Gdrug response
Select item 828883	NM_000106.6(CYP2D6):c.794C>T (p.Ala265Val)	CYP2D6 (A265V +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 828882	NM_000106.6(CYP2D6):c.791C>T (p.Pro264Leu)	CYP2D6 (P264L +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
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 828881	NM_000106.6(CYP2D6):c.768T>C (p.Thr256=)	CYP2D6	Single nucleotide variant (synonymous variant)	Tramadol response	Gdrug response

<< First< Prev

Page of 4