ClinVar for Gene (Select 1292) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248207	NC_000021.8:g.(?_44296792)_(47865240_?)del	ADARB1, AGPAT3 +60 more	Deletion	not provided	GPathogenic
Select item 3248201	NC_000021.8:g.(?_45647421)_(47865240_?)dup	KRTAP10-7, KRTAP10-8 +44 more	Duplication	not provided	GUncertain significance
Select item 3248176	NC_000021.8:g.(?_47532319)_(47533133_?)del	COL6A2	Deletion	Bethlem myopathy 1A	GLikely pathogenic
Select item 3248175	NC_000021.8:g.(?_47545204)_(47546372_?)del	COL6A2	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3248174	NC_000021.8:g.(?_47532747)_(47533970_?)del	COL6A2	Deletion	Bethlem myopathy 1A	GLikely pathogenic
Select item 3248173	NC_000021.8:g.(?_47552332)_(47557196_?)del	COL6A2, FTCD	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3248172	NC_000021.8:g.(?_47552285)_(47554633_?)del	COL6A2	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3248171	NC_000021.8:g.(?_47531391)_(47537387_?)dup	COL6A2	Duplication	Bethlem myopathy 1A	GUncertain significance
Select item 3248169	NC_000021.8:g.(?_47551848)_(47575437_?)dup	COL6A2, FTCD	Duplication	Bethlem myopathy 1A	GUncertain significance
Select item 3248168	NC_000021.8:g.(?_47543718)_(47545225_?)del	COL6A2	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3248167	NC_000021.8:g.(?_47531391)_(47541057_?)del	COL6A2	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	TFF2, UBE2G2 +216 more	Copy number gain	not provided	GPathogenic
Select item 3239149	NM_001849.4(COL6A2):c.1968A>T (p.Thr656=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236461	NM_001849.4(COL6A2):c.1787C>T (p.Thr596Ile)	COL6A2 (T596I)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GBenign
Select item 3236460	NM_001849.4(COL6A2):c.2874_2875insCG (p.Glu959fs)	COL6A2 (E959fs)	Insertion (frameshift variant)	Bethlem myopathy 1A	GLikely pathogenic
Select item 3236459	NM_001849.4(COL6A2):c.2495dup (p.Asp833fs)	COL6A2 (D833fs)	Duplication (frameshift variant)	Bethlem myopathy 1A	GLikely pathogenic
Select item 3236458	NM_001849.4(COL6A2):c.949C>T (p.Arg317Cys)	COL6A2 (R317C)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3148842	GRCh37/hg19 21q22.3(chr21:45726806-48093361)x1	KRTAP10-4, KRTAP10-2 +44 more	Copy number loss	not provided	GUncertain significance
Select item 3147683	NM_001849.4(COL6A2):c.5T>C (p.Leu2Pro)	COL6A2 (L2P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147682	NM_001849.4(COL6A2):c.2357T>A (p.Met786Lys)	COL6A2 (M786K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147681	NM_001849.4(COL6A2):c.2305A>T (p.Ser769Cys)	COL6A2 (S769C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147680	NM_001849.4(COL6A2):c.1963G>C (p.Glu655Gln)	COL6A2 (E655Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147679	NM_001849.4(COL6A2):c.1255C>G (p.Pro419Ala)	COL6A2 (P419A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068596	NM_001849.4(COL6A2):c.1865G>T (p.Ser622Ile)	COL6A2 (S622I)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy	GUncertain significance
Select item 3067563	NM_001849.4(COL6A2):c.928G>T (p.Gly310Cys)	COL6A2 (G310C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062430	GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1	KRTAP10-7, KRTAP10-8 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062427	GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1	DNMT3L, SLX9 +55 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
Select item 3054140	NM_001849.4(COL6A2):c.-6G>T	COL6A2	Single nucleotide variant (5 prime UTR variant)	COL6A2-related disorder	GLikely benign
Select item 3053932	NM_001849.4(COL6A2):c.2856G>T (p.Thr952=)	COL6A2	Single nucleotide variant (synonymous variant)	COL6A2-related disorder	GLikely benign
Select item 3052827	NM_001849.4(COL6A2):c.1791C>T (p.Tyr597=)	COL6A2	Single nucleotide variant (synonymous variant)	COL6A2-related disorder	GLikely benign
Select item 3052666	NM_001849.4(COL6A2):c.2292C>T (p.His764=)	COL6A2	Single nucleotide variant (synonymous variant)	COL6A2-related disorder	GLikely benign
Select item 3049984	NM_058174.3(COL6A2):c.2733C>T (p.Pro911=)	COL6A2	Single nucleotide variant (synonymous variant +2 more)	COL6A2-related disorder	GLikely benign
Select item 3049172	NM_058174.3(COL6A2):c.2635G>A (p.Glu879Lys)	COL6A2 (E879K)	Single nucleotide variant (missense variant +2 more)	COL6A2-related disorder	GLikely benign
Select item 3040912	NM_001849.4(COL6A2):c.2461+2354C>T	COL6A2	Single nucleotide variant (intron variant)	COL6A2-related disorder	GLikely benign
Select item 3039378	NM_058174.3(COL6A2):c.2745G>C (p.Leu915=)	COL6A2	Single nucleotide variant (synonymous variant +2 more)	COL6A2-related disorder	GLikely benign
Select item 3038550	NM_001849.4(COL6A2):c.2422+3G>A	COL6A2	Single nucleotide variant (intron variant)	COL6A2-related disorder	GLikely benign
Select item 3035398	NM_001849.4(COL6A2):c.2462-2441G>C	COL6A2	Single nucleotide variant (3 prime UTR variant +1 more)	COL6A2-related disorder	GLikely benign
Select item 3034629	NM_058174.3(COL6A2):c.2643C>G (p.Ala881=)	COL6A2	Single nucleotide variant (synonymous variant +2 more)	COL6A2-related disorder	GLikely benign
Select item 3033994	NM_001849.4(COL6A2):c.2462-2433C>G	COL6A2	Single nucleotide variant (3 prime UTR variant +1 more)	COL6A2-related disorder	GLikely benign
Select item 3033592	NM_001849.4(COL6A2):c.2462-2442C>T	COL6A2	Single nucleotide variant (3 prime UTR variant +1 more)	COL6A2-related disorder	GLikely benign
Select item 3032825	NM_001849.4(COL6A2):c.735+27T>G	COL6A2	Single nucleotide variant (intron variant)	COL6A2-related disorder	GLikely benign
Select item 3032338	NM_058174.3(COL6A2):c.2504G>A (p.Arg835His)	COL6A2 (R835H)	Single nucleotide variant (missense variant +2 more)	COL6A2-related disorder	GUncertain significance
Select item 3031659	NM_058174.3(COL6A2):c.2739C>T (p.Thr913=)	COL6A2	Single nucleotide variant (synonymous variant +2 more)	COL6A2-related disorder	GLikely benign
Select item 3030084	NM_058174.3(COL6A2):c.2655C>T (p.Thr885=)	COL6A2	Single nucleotide variant (synonymous variant +2 more)	COL6A2-related disorder	GLikely benign
Select item 3026313	NM_001849.4(COL6A2):c.1608+5G>A	COL6A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3024810	NM_058174.3(COL6A2):c.2511A>G (p.Glu837=)	COL6A2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3023354	NM_001849.4(COL6A2):c.312G>A (p.Gln104=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3022702	NM_001849.4(COL6A2):c.1573-20G>A	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3022071	NM_001849.4(COL6A2):c.2315_2322del (p.Leu772fs)	COL6A2 (L772fs)	Deletion (frameshift variant)	Bethlem myopathy 1A	GPathogenic
Select item 3020756	NM_001849.4(COL6A2):c.499G>T (p.Gly167Cys)	COL6A2 (G167C)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 3019946	NM_001849.4(COL6A2):c.2157G>T (p.Arg719=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 3019084	NM_001849.4(COL6A2):c.1771-9G>A	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3017369	NM_001849.4(COL6A2):c.999+6G>A	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3012518	NM_001849.4(COL6A2):c.2726A>C (p.Gln909Pro)	COL6A2 (Q909P)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3009951	NM_001849.4(COL6A2):c.1459-2_1459-1del	COL6A2	Deletion (splice acceptor variant)	Bethlem myopathy 1A	GLikely pathogenic
Select item 3009926	NM_001849.4(COL6A2):c.425C>G (p.Thr142Arg)	COL6A2 (T142R)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3005148	NM_001849.4(COL6A2):c.1817-18A>C	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 3003492	NM_001849.4(COL6A2):c.1522-3C>T	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GUncertain significance
Select item 3001615	NM_001849.4(COL6A2):c.900+5G>A	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2987837	NM_001849.4(COL6A2):c.2675T>A (p.Phe892Tyr)	COL6A2 (F892Y)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2987506	NM_001849.4(COL6A2):c.2190C>T (p.Ile730=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2983960	NM_001849.4(COL6A2):c.1816+6G>A	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2980877	NM_001849.4(COL6A2):c.1584C>T (p.Gly528=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2980847	NM_001849.4(COL6A2):c.2316C>T (p.Leu772=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2973585	NM_001849.4(COL6A2):c.393C>T (p.Gly131=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2973558	NM_001849.4(COL6A2):c.27C>T (p.Leu9=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2970519	NM_001849.4(COL6A2):c.1516C>A (p.Pro506Thr)	COL6A2 (P506T)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2970230	NM_001849.4(COL6A2):c.1971G>A (p.Gly657=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2967816	NM_001849.4(COL6A2):c.396C>T (p.Thr132=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2966286	NM_001849.4(COL6A2):c.2161C>T (p.Gln721Ter)	COL6A2 (Q721*)	Single nucleotide variant (nonsense)	Bethlem myopathy 1A	GPathogenic
Select item 2964942	NM_001849.4(COL6A2):c.1771-20G>C	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2963496	NM_001849.4(COL6A2):c.1240C>T (p.Pro414Ser)	COL6A2 (P414S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2963082	NM_001849.4(COL6A2):c.115+17del	COL6A2	Deletion (intron variant)	Bethlem myopathy 1A	GBenign
Select item 2962177	NM_001849.4(COL6A2):c.1970-4G>T	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2961643	NM_001849.4(COL6A2):c.1682G>T (p.Gly561Val)	COL6A2 (G561V)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2920060	NM_001849.4(COL6A2):c.221T>C (p.Val74Ala)	COL6A2 (V74A)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2919898	NM_001849.4(COL6A2):c.1671+12C>G	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2919684	NM_001849.4(COL6A2):c.1597C>T (p.Arg533Cys)	COL6A2 (R533C)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2918743	NM_001849.4(COL6A2):c.1734+16G>A	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2917491	NM_001849.4(COL6A2):c.1672-20C>T	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2916860	NM_001849.4(COL6A2):c.1027G>A (p.Gly343Ser)	COL6A2 (G343S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2915391	NM_001849.4(COL6A2):c.1691G>C (p.Gly564Ala)	COL6A2 (G564A)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2911498	NM_001849.4(COL6A2):c.2916C>T (p.Thr972=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2911034	NM_001849.4(COL6A2):c.115+19C>T	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2910333	NM_001849.4(COL6A2):c.2423-3C>T	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2907555	NM_001849.4(COL6A2):c.2107A>C (p.Thr703Pro)	COL6A2 (T703P)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2906962	NM_001849.4(COL6A2):c.2423-17T>C	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2903338	NM_001849.4(COL6A2):c.1671+7G>A	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2895674	NM_001849.4(COL6A2):c.1770+15G>C	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2894399	NM_001849.4(COL6A2):c.1459-13C>G	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2894398	NM_001849.4(COL6A2):c.802-9T>C	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2892279	NM_001849.4(COL6A2):c.1788C>T (p.Thr596=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2891439	NM_001849.4(COL6A2):c.437G>A (p.Arg146Gln)	COL6A2 (R146Q)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance

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