"GeneDx"[submitter] AND "COL6A1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59035	GRCh38/hg38 21q22.3(chr21:45084236-45991858)x3	ADARB1, BNAT1 +46 more	Copy number gain	See cases	GUncertain significance
Select item 673579	NM_001848.2(COL6A1):c.-368C>T	COL6A1	Single nucleotide variant (genic downstream transcript variant)	not provided	GLikely benign
Select item 1214449	NC_000021.9:g.45981584G>C	COL6A1	Single nucleotide variant	not provided	GLikely benign
Select item 1203873	NC_000021.9:g.45981589G>C	COL6A1	Single nucleotide variant	not provided	GLikely benign
Select item 1219655	NC_000021.9:g.45981594T>C	COL6A1	Single nucleotide variant	not provided	GLikely benign
Select item 1216096	NC_000021.9:g.45981599T>C	COL6A1	Single nucleotide variant	not provided	GLikely benign
Select item 1342739	NC_000021.9:g.45981609C>A	COL6A1	Single nucleotide variant	not provided	GLikely benign
Select item 1188025	NC_000021.9:g.45981727G>A	COL6A1	Single nucleotide variant	not provided	GLikely benign
Select item 93792	NM_001848.3(COL6A1):c.-5C>G	COL6A1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 499198	NM_001848.3(COL6A1):c.-1C>T	COL6A1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1800477	NM_001848.3(COL6A1):c.43T>C (p.Cys15Arg)	COL6A1 (C15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 258311	NM_001848.3(COL6A1):c.97+20G>A	COL6A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1197060	NM_001848.3(COL6A1):c.97+167C>G	COL6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178137	NM_001848.3(COL6A1):c.97+222_97+226dup	COL6A1	Duplication (intron variant)	not provided	GBenign
Select item 671107	NM_001848.3(COL6A1):c.98-320dup	COL6A1	Duplication (intron variant)	not provided	GBenign
Select item 1191109	NM_001848.3(COL6A1):c.98-239C>G	COL6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670481	NM_001848.3(COL6A1):c.98-214C>T	COL6A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 93804	NM_001848.3(COL6A1):c.105C>G (p.Pro35=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +3 more	GBenign/Likely benign
Select item 195151	NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp)	COL6A1 (A57D)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 1309280	NM_001848.3(COL6A1):c.197_199del (p.Thr66del)	COL6A1 (T66del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 195150	NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys)	COL6A1 (R68C)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 387580	NM_001848.3(COL6A1):c.227+15C>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +1 more	GBenign/Likely benign
Select item 1199859	NM_001848.3(COL6A1):c.227+157_227+225dup	COL6A1	Duplication (intron variant)	not provided	GLikely benign
Select item 1200702	NM_001848.3(COL6A1):c.227+239C>T	COL6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186489	NM_001848.3(COL6A1):c.228-151C>G	COL6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679173	NM_001848.3(COL6A1):c.228-140G>C	COL6A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679577	NM_001848.3(COL6A1):c.228-57G>A	COL6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 641884	NM_001848.3(COL6A1):c.269C>T (p.Ala90Val)	COL6A1 (A90V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 285070	NM_001848.3(COL6A1):c.311C>T (p.Thr104Met)	COL6A1 (T104M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 196329	NM_001848.3(COL6A1):c.324C>T (p.Gly108=)	COL6A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 391655	NM_001848.3(COL6A1):c.328C>G (p.Arg110Gly)	COL6A1 (R110G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418910	NM_001848.3(COL6A1):c.329G>A (p.Arg110His)	COL6A1 (R110H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 93872	NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn)	COL6A1 (S116N)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GBenign
Select item 285671	NM_001848.3(COL6A1):c.348C>T (p.Ser116=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 128813	NM_001848.3(COL6A1):c.349G>A (p.Val117Met)	COL6A1 (V117M)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 56905	NM_001848.3(COL6A1):c.350T>C (p.Val117Ala)	COL6A1	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +3 more	GConflicting classifications of pathogenicity
Select item 497385	NM_001848.3(COL6A1):c.381C>T (p.Thr127=)	COL6A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3375757	NM_001848.3(COL6A1):c.406G>C (p.Gly136Arg)	COL6A1 (G136R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 510074	NM_001848.3(COL6A1):c.423C>A (p.Leu141=)	COL6A1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 93873	NM_001848.3(COL6A1):c.428+14A>G	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +4 more	GBenign
Select item 93874	NM_001848.3(COL6A1):c.428+39C>G	COL6A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 93875	NM_001848.3(COL6A1):c.428+40G>A	COL6A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1207003	NM_001848.3(COL6A1):c.428+131C>T	COL6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181221	NM_001848.3(COL6A1):c.428+213AGAGAC[3]	COL6A1	Microsatellite (intron variant)	not provided	GBenign
Select item 1188440	NM_001848.3(COL6A1):c.428+253A>G	COL6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199010	NM_001848.3(COL6A1):c.429-321G>A	COL6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195589	NM_001848.3(COL6A1):c.429-276G>A	COL6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186697	NM_001848.3(COL6A1):c.429-184A>C	COL6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212230	NM_001848.3(COL6A1):c.429-95G>A	COL6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 258302	NM_001848.3(COL6A1):c.429-30C>T	COL6A1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 93876	NM_001848.3(COL6A1):c.429-19G>A	COL6A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 3370986	NM_001848.3(COL6A1):c.485del (p.Leu162fs)	COL6A1 (L162fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 386949	NM_001848.3(COL6A1):c.510G>A (p.Gly170=)	COL6A1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 258303	NM_001848.3(COL6A1):c.579C>T (p.Pro193=)	COL6A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 93882	NM_001848.3(COL6A1):c.588+8C>G	COL6A1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 509147	NM_001848.3(COL6A1):c.588+9C>T	COL6A1	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +1 more	GLikely benign
Select item 93880	NM_001848.3(COL6A1):c.588+19dup	COL6A1	Duplication (intron variant)	not provided +3 more	GBenign
Select item 93879	NM_001848.3(COL6A1):c.588+13C>A	COL6A1	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 1A +4 more	GBenign
Select item 93881	NM_001848.3(COL6A1):c.588+37A>G	COL6A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 679174	NM_001848.3(COL6A1):c.589-57G>A	COL6A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203270	NM_001848.3(COL6A1):c.589-53C>A	COL6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1311515	NM_001848.3(COL6A1):c.589-6C>A	COL6A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1302968	NM_001848.3(COL6A1):c.590A>G (p.Glu197Gly)	COL6A1 (E197G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500103	NM_001848.3(COL6A1):c.593C>T (p.Pro198Leu)	COL6A1 (P198L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 449647	NM_001848.3(COL6A1):c.614C>T (p.Thr205Met)	COL6A1 (T205M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 508802	NM_001848.3(COL6A1):c.615G>A (p.Thr205=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +1 more	GBenign/Likely benign
Select item 429802	NM_001848.3(COL6A1):c.631C>T (p.Arg211Cys)	COL6A1 (R211C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 595565	NM_001848.3(COL6A1):c.641C>T (p.Thr214Met)	COL6A1 (T214M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 93883	NM_001848.3(COL6A1):c.645G>A (p.Ala215=)	COL6A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 281289	NM_001848.3(COL6A1):c.665G>A (p.Arg222His)	COL6A1 (R222H)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 283757	NM_001848.3(COL6A1):c.666C>T (p.Arg222=)	COL6A1	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 285060	NM_001848.3(COL6A1):c.667G>A (p.Asp223Asn)	COL6A1 (D223N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 284826	NM_001848.3(COL6A1):c.717+4A>G	COL6A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 93884	NM_001848.3(COL6A1):c.717+32C>T	COL6A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 93887	NM_001848.3(COL6A1):c.739-51C>T	COL6A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 93886	NM_001848.3(COL6A1):c.739-18C>T	COL6A1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 515174	NM_001848.3(COL6A1):c.739-11del	COL6A1	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 384792	NM_001848.3(COL6A1):c.741C>A (p.Cys247Ter)	COL6A1 (C247*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 283242	NM_001848.3(COL6A1):c.751G>A (p.Glu251Lys)	COL6A1 (E251K)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 513450	NM_001848.3(COL6A1):c.760-11C>T	COL6A1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1324131	NM_001848.3(COL6A1):c.769G>C (p.Gly257Arg)	COL6A1 (G257R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1304708	NM_001848.3(COL6A1):c.775C>A (p.Pro259Thr)	COL6A1 (P259T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 290527	NM_001848.3(COL6A1):c.776C>T (p.Pro259Leu)	COL6A1 (P259L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 258306	NM_001848.3(COL6A1):c.777G>A (p.Pro259=)	COL6A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1189448	NM_001848.3(COL6A1):c.804+139_804+162del	COL6A1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 679176	NM_001848.3(COL6A1):c.804+140del	COL6A1	Deletion (intron variant)	not provided	GBenign
Select item 1189443	NM_001848.3(COL6A1):c.804+163del	COL6A1	Deletion (intron variant)	not provided	GLikely benign
Select item 1269967	NM_001848.3(COL6A1):c.805-208G>C	COL6A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 258307	NM_001848.3(COL6A1):c.805-36G>A	COL6A1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 419392	NM_001848.3(COL6A1):c.815G>A (p.Gly272Asp)	COL6A1 (G272D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 17182	NM_001848.3(COL6A1):c.841G>A (p.Gly281Arg)	COL6A1 (G281R)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GPathogenic
Select item 280099	NM_001848.3(COL6A1):c.842G>A (p.Gly281Glu)	COL6A1 (G281E)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 17180	NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)	COL6A1	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 679177	NM_001848.3(COL6A1):c.858+62C>T	COL6A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679178	NM_001848.3(COL6A1):c.858+188G>C	COL6A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196063	NM_001848.3(COL6A1):c.859-213G>T	COL6A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 93892	NM_001848.3(COL6A1):c.859-20C>T	COL6A1	Single nucleotide variant (intron variant)	not specified	GBenign/Likely benign
Select item 93891	NM_001848.3(COL6A1):c.859-19A>G	COL6A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 93890	NM_001848.3(COL6A1):c.859-18T>A	COL6A1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity

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