ClinVar for Gene (Select 4988) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302360	NM_000914.5(OPRM1):c.40A>G (p.Thr14Ala)	OPRM1 (T14A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3302359	NM_000914.5(OPRM1):c.494T>A (p.Val165Asp)	OPRM1 (V258D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3302358	NM_000914.5(OPRM1):c.112G>T (p.Asp38Tyr)	OPRM1 (D131Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3286296	NM_001130700.2(IPCEF1):c.1080C>G (p.Ile360Met)	IPCEF1, OPRM1 (I359M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286295	NM_001130700.2(IPCEF1):c.783C>A (p.Asn261Lys)	IPCEF1, OPRM1 (N260K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286294	NM_001130700.2(IPCEF1):c.610A>G (p.Thr204Ala)	IPCEF1, OPRM1 (T203A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286292	NM_001130700.2(IPCEF1):c.508C>G (p.Pro170Ala)	IPCEF1, OPRM1 (P170A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286291	NM_001130700.2(IPCEF1):c.719C>T (p.Thr240Met)	IPCEF1, OPRM1 (T239M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286290	NM_001130700.2(IPCEF1):c.509C>T (p.Pro170Leu)	IPCEF1, OPRM1 (P169L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286289	NM_001130700.2(IPCEF1):c.517G>A (p.Ala173Thr)	IPCEF1, OPRM1 (A172T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246023	NC_000006.11:g.(?_152949380)_(154441965_?)del	MTRF1L, FBXO5 +5 more	Deletion	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GPathogenic
Select item 3204430	NM_000914.5(OPRM1):c.979G>T (p.Gly327Cys)	OPRM1 (G327C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3204429	NM_000914.5(OPRM1):c.551G>A (p.Arg184Gln)	OPRM1 (R277Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3204428	NM_000914.5(OPRM1):c.520C>G (p.Pro174Ala)	OPRM1 (P267A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3204427	NM_000914.5(OPRM1):c.311C>A (p.Ala104Asp)	OPRM1 (A197D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3204426	NM_000914.5(OPRM1):c.160G>A (p.Gly54Arg)	OPRM1 (G147R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3204425	NM_000914.5(OPRM1):c.1063C>A (p.Pro355Thr)	OPRM1 (P448T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3204424	NM_000914.5(OPRM1):c.1048A>G (p.Arg350Gly)	OPRM1 (R350G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 2657042	NM_000914.5(OPRM1):c.187_189dup (p.Gly63_Ser64insGly)	OPRM1	Duplication (inframe_insertion +2 more)	not provided	GLikely benign
Select item 2623539	NM_000914.5(OPRM1):c.1142C>T (p.Thr381Ile)	OPRM1 (T281I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 2519502	NM_000914.5(OPRM1):c.778C>T (p.Arg260Cys)	OPRM1 (R160C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2490489	NM_000914.5(OPRM1):c.557C>A (p.Ala186Asp)	OPRM1 (A86D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2479733	NM_000914.5(OPRM1):c.997C>T (p.Leu333Phe)	OPRM1 (L252F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2469026	NM_000914.5(OPRM1):c.375C>G (p.Phe125Leu)	OPRM1 (F125L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2464855	NM_000914.5(OPRM1):c.824G>A (p.Arg275Lys)	OPRM1 (R175K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2461541	NM_001130700.2(IPCEF1):c.413C>T (p.Ser138Leu)	IPCEF1, OPRM1 (S137L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2460211	NM_000914.5(OPRM1):c.993C>G (p.Ser331Arg)	OPRM1 (S331R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2459166	NM_000914.5(OPRM1):c.1115C>T (p.Thr372Ile)	OPRM1 (T372I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2406485	NM_000914.5(OPRM1):c.13G>A (p.Ala5Thr)	OPRM1 (A5T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2406316	NM_001130700.2(IPCEF1):c.436A>T (p.Thr146Ser)	IPCEF1, OPRM1 (T145S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397512	NM_001130700.2(IPCEF1):c.421A>C (p.Ile141Leu)	IPCEF1, OPRM1 (I141L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383422	NM_000914.5(OPRM1):c.27C>A (p.Asn9Lys)	OPRM1 (N9K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2364195	NM_001130700.2(IPCEF1):c.1312A>G (p.Ile438Val)	IPCEF1, OPRM1 (I438V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354483	NM_000914.5(OPRM1):c.1029A>C (p.Glu343Asp)	OPRM1 (E436D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325220	NM_000914.5(OPRM1):c.519C>A (p.His173Gln)	OPRM1 (H92Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2304027	NM_001130700.2(IPCEF1):c.923T>G (p.Val308Gly)	IPCEF1, OPRM1 (V308G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244156	NM_000914.5(OPRM1):c.515G>A (p.Cys172Tyr)	OPRM1 (C91Y +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2239023	NM_000914.5(OPRM1):c.823A>G (p.Arg275Gly)	OPRM1 (R275G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2232124	NM_000914.5(OPRM1):c.1126C>T (p.Pro376Ser)	OPRM1 (P276S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2219238	NM_000914.5(OPRM1):c.401C>G (p.Thr134Arg)	OPRM1 (T53R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2208854	NM_000914.5(OPRM1):c.764G>A (p.Gly255Glu)	OPRM1 (G255E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1527309	GRCh37/hg19 6q25.2-25.3(chr6:153647248-158255989)	ARID1B, CLDN20 +10 more	Copy number loss	not specified	GPathogenic
Select item 1527308	GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	ACAT2, AGPAT4 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527307	GRCh37/hg19 6q25.2-25.3(chr6:153180239-156377315)	CLDN20, CNKSR3 +9 more	Copy number loss	not specified	GUncertain significance
Select item 1340803	GRCh37/hg19 6q25.2-25.3(chr6:153584880-157203309)x1	ARID1B, CLDN20 +7 more	Copy number loss	not provided	GPathogenic
Select item 1277133	NM_001008503.3(OPRM1):c.1164+74814C>T	OPRM1, IPCEF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 979577	GRCh37/hg19 6q25.1-25.2(chr6:151472860-154839846)x3	MTRF1L, AKAP12 +14 more	Copy number gain	not provided	GLikely pathogenic
Select item 829288	NM_001145279.4(OPRM1):c.-55A>T	OPRM1	Single nucleotide variant (5 prime UTR variant +1 more)	Tramadol response	Gdrug response
Select item 829287	NM_001145279.4(OPRM1):c.-11C>T	OPRM1	Single nucleotide variant (5 prime UTR variant +1 more)	Tramadol response	Gdrug response
Select item 829286	NM_001145279.4(OPRM1):c.-2G>T	OPRM1	Single nucleotide variant (5 prime UTR variant +1 more)	Tramadol response	Gdrug response
Select item 829285	NM_001145279.4(OPRM1):c.-1+11G>T	OPRM1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829284	NM_001145279.4(OPRM1):c.-1+51G>T	OPRM1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829283	NM_001145279.4(OPRM1):c.-1+70G>C	OPRM1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829282	NM_001145279.4(OPRM1):c.-1+86_-1+87del	OPRM1	Deletion (intron variant)	Tramadol response	Gdrug response
Select item 829281	NM_001145279.4(OPRM1):c.1-130C>A	OPRM1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829280	NM_001145279.4(OPRM1):c.1-128T>C	OPRM1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829279	NM_001145279.4(OPRM1):c.1-126C>A	OPRM1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829278	NM_001145279.4(OPRM1):c.1-123G>A	OPRM1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829277	NM_001145279.4(OPRM1):c.1-122A>G	OPRM1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829276	NM_001145279.4(OPRM1):c.1-121T>C	OPRM1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829275	NM_000914.4(OPRM1):c.-401C>A	OPRM1	Single nucleotide variant (5 prime UTR variant +1 more)	Tramadol response	Gdrug response
Select item 829274	NM_000914.4(OPRM1):c.-395C>T	OPRM1	Single nucleotide variant (5 prime UTR variant +1 more)	Tramadol response	Gdrug response
Select item 829273	NM_000914.4(OPRM1):c.-394C>A	OPRM1	Single nucleotide variant (5 prime UTR variant +1 more)	Tramadol response	Gdrug response
Select item 829272	NM_000914.5(OPRM1):c.-99T>A	OPRM1 (W61R)	Single nucleotide variant (5 prime UTR variant +3 more)	Tramadol response	Gdrug response
Select item 829271	NM_000914.5(OPRM1):c.-71C>A	OPRM1 (A70E)	Single nucleotide variant (5 prime UTR variant +3 more)	Tramadol response	Gdrug response
Select item 829270	NM_000914.5(OPRM1):c.-35C>T	OPRM1 (T82I)	Single nucleotide variant (5 prime UTR variant +3 more)	Tramadol response	Gdrug response
Select item 829269	NM_000914.5(OPRM1):c.-25C>T	OPRM1	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 829268	NM_000914.5(OPRM1):c.-20C>T	OPRM1 (A87V)	Single nucleotide variant (5 prime UTR variant +3 more)	Tramadol response	Gdrug response
Select item 829267	NM_000914.5(OPRM1):c.-14C>T	OPRM1 (P89L)	Single nucleotide variant (5 prime UTR variant +3 more)	Tramadol response	Gdrug response
Select item 829266	NM_000914.5(OPRM1):c.-7C>T	OPRM1	Single nucleotide variant (5 prime UTR variant +3 more)	Tramadol response	Gdrug response
Select item 829265	NM_000914.5(OPRM1):c.-2C>A	OPRM1 (T93N)	Single nucleotide variant (5 prime UTR variant +3 more)	Tramadol response	Gdrug response
Select item 829264	NM_000914.5(OPRM1):c.7A>G (p.Ser3Gly)	OPRM1 (S3G +1 more)	Single nucleotide variant (missense variant +2 more)	Tramadol response	Gdrug response
Select item 829263	NM_000914.5(OPRM1):c.27C>T (p.Asn9=)	OPRM1	Single nucleotide variant (synonymous variant +2 more)	Tramadol response	Gdrug response
Select item 829262	NM_000914.5(OPRM1):c.53C>T (p.Ala18Val)	OPRM1 (A111V +1 more)	Single nucleotide variant (missense variant +2 more)	Tramadol response	Gdrug response
Select item 829261	NM_000914.5(OPRM1):c.74C>A (p.Ala25Glu)	OPRM1 (A118E +1 more)	Single nucleotide variant (missense variant +2 more)	Tramadol response	Gdrug response
Select item 829260	NM_000914.5(OPRM1):c.78del (p.Ser27fs)	OPRM1 (S120fs +1 more)	Deletion (frameshift variant +2 more)	Tramadol response	Gdrug response
Select item 829259	NM_000914.5(OPRM1):c.152del (p.Asp51fs)	OPRM1 (D144fs +1 more)	Deletion (frameshift variant +2 more)	Tramadol response	Gdrug response
Select item 829258	NM_000914.5(OPRM1):c.182C>T (p.Pro61Leu)	OPRM1 (P154L +1 more)	Single nucleotide variant (missense variant +2 more)	Tramadol response	Gdrug response
Select item 829257	NM_000914.5(OPRM1):c.290+18G>A	OPRM1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829256	NM_000914.5(OPRM1):c.290+22del	OPRM1	Deletion (intron variant)	Tramadol response	Gdrug response
Select item 829255	NM_000914.5(OPRM1):c.290+72C>A	OPRM1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829254	NM_000914.5(OPRM1):c.290+87G>A	OPRM1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829253	NM_000914.5(OPRM1):c.290+107del	OPRM1	Deletion (intron variant)	Tramadol response	Gdrug response
Select item 829252	NM_000914.5(OPRM1):c.290+118G>A	OPRM1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829251	NM_000914.5(OPRM1):c.290+121G>C	OPRM1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829250	NM_000914.5(OPRM1):c.290+122G>A	OPRM1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829249	NM_000914.5(OPRM1):c.291-3445T>C	OPRM1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829248	NM_000914.5(OPRM1):c.291-3440A>T	OPRM1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829247	NM_000914.5(OPRM1):c.291-3328T>G	OPRM1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829246	NM_000914.5(OPRM1):c.291-3322A>C	OPRM1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829245	NM_000914.5(OPRM1):c.291-3321A>C	OPRM1	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829244	NM_000914.5(OPRM1):c.291-3240A>T	OPRM1	Single nucleotide variant (5 prime UTR variant +1 more)	Tramadol response	Gdrug response
Select item 829243	NM_000914.5(OPRM1):c.291-2900A>T	OPRM1	Single nucleotide variant (5 prime UTR variant +1 more)	Tramadol response	Gdrug response
Select item 829242	NM_000914.5(OPRM1):c.291-2876A>G	OPRM1	Single nucleotide variant (5 prime UTR variant +1 more)	Tramadol response	Gdrug response
Select item 829241	NM_000914.5(OPRM1):c.291-2875G>T	OPRM1	Single nucleotide variant (5 prime UTR variant +1 more)	Tramadol response	Gdrug response
Select item 829240	NM_000914.5(OPRM1):c.291-2846G>A	OPRM1	Single nucleotide variant (5 prime UTR variant +1 more)	Tramadol response	Gdrug response

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