"Eurofins Ntd Llc (ga)"[submitter] AND "COL6A2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 285809	NM_001849.4(COL6A2):c.-6G>A	COL6A2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 285631	NM_001849.4(COL6A2):c.14C>T (p.Thr5Ile)	COL6A2 (T5I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195152	NM_001849.4(COL6A2):c.22G>A (p.Val8Met)	COL6A2 (V8M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 290722	NM_001849.4(COL6A2):c.81G>A (p.Ser27=)	COL6A2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 283330	NM_001849.4(COL6A2):c.84G>A (p.Pro28=)	COL6A2	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +4 more	GConflicting classifications of pathogenicity
Select item 290526	NM_001849.4(COL6A2):c.94G>A (p.Glu32Lys)	COL6A2 (E32K)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 284479	NM_001849.4(COL6A2):c.115+6del	COL6A2	Deletion (intron variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 284478	NM_001849.4(COL6A2):c.115+6A>G	COL6A2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 288413	NM_001849.4(COL6A2):c.115+10G>T	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 93901	NM_001849.4(COL6A2):c.116-34G>A	COL6A2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 196332	NM_001849.4(COL6A2):c.116-7C>T	COL6A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 594418	NM_001849.4(COL6A2):c.123C>T (p.Thr41=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 282298	NM_001849.4(COL6A2):c.138C>T (p.His46=)	COL6A2	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +3 more	GBenign/Likely benign
Select item 498068	NM_001849.4(COL6A2):c.139G>A (p.Val47Met)	COL6A2 (V47M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 596924	NM_001849.4(COL6A2):c.162G>A (p.Ser54=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 476458	NM_001849.4(COL6A2):c.167G>A (p.Ser56Asn)	COL6A2 (S56N)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1A +2 more	GUncertain significance
Select item 282475	NM_001849.4(COL6A2):c.169G>A (p.Val57Ile)	COL6A2 (V57I)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 285825	NM_001849.4(COL6A2):c.176T>C (p.Met59Thr)	COL6A2 (M59T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 502140	NM_001849.4(COL6A2):c.181T>C (p.Ser61Pro)	COL6A2 (S61P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 285361	NM_001849.4(COL6A2):c.188C>T (p.Thr63Met)	COL6A2 (T63M)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 286447	NM_001849.4(COL6A2):c.189G>A (p.Thr63=)	COL6A2	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +3 more	GConflicting classifications of pathogenicity
Select item 286220	NM_001849.4(COL6A2):c.219C>T (p.Phe73=)	COL6A2	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +2 more	GConflicting classifications of pathogenicity
Select item 289766	NM_001849.4(COL6A2):c.224C>T (p.Pro75Leu)	COL6A2 (P75L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 497185	NM_001849.4(COL6A2):c.225G>T (p.Pro75=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 289146	NM_001849.4(COL6A2):c.229T>C (p.Phe77Leu)	COL6A2 (F77L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 497200	NM_001849.4(COL6A2):c.265C>T (p.Gln89Ter)	COL6A2 (Q89*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 283712	NM_001849.4(COL6A2):c.284G>A (p.Arg95His)	COL6A2 (R95H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 287443	NM_001849.4(COL6A2):c.288C>T (p.Tyr96=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 93953	NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys)	COL6A2 (E106K)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +5 more	GBenign/Likely benign
Select item 285721	NM_001849.4(COL6A2):c.332C>T (p.Pro111Leu)	COL6A2 (P111L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 476487	NM_001849.4(COL6A2):c.344G>A (p.Arg115Gln)	COL6A2 (R115Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 287713	NM_001849.4(COL6A2):c.345G>A (p.Arg115=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 498949	NM_001849.4(COL6A2):c.386G>A (p.Arg129His)	COL6A2 (R129H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 288870	NM_001849.4(COL6A2):c.391G>A (p.Gly131Ser)	COL6A2 (G131S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 598421	NM_001849.4(COL6A2):c.408C>T (p.Cys136=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 290489	NM_001849.4(COL6A2):c.410C>T (p.Ala137Val)	COL6A2 (A137V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 499549	NM_001849.4(COL6A2):c.411G>A (p.Ala137=)	COL6A2	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +2 more	GConflicting classifications of pathogenicity
Select item 476488	NM_001849.4(COL6A2):c.426G>A (p.Thr142=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 281665	NM_001849.4(COL6A2):c.436C>T (p.Arg146Trp)	COL6A2 (R146W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 283039	NM_001849.4(COL6A2):c.446G>A (p.Arg149His)	COL6A2 (R149H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 392279	NM_001849.4(COL6A2):c.459C>T (p.Thr153=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 282440	NM_001849.4(COL6A2):c.472G>A (p.Val158Met)	COL6A2 (V158M)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 196331	NM_001849.4(COL6A2):c.483C>T (p.Thr161=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 286046	NM_001849.4(COL6A2):c.492C>T (p.His164=)	COL6A2	Single nucleotide variant (synonymous variant)	Myosclerosis +4 more	GConflicting classifications of pathogenicity
Select item 289159	NM_001849.4(COL6A2):c.493G>A (p.Val165Ile)	COL6A2 (V165I)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 93954	NM_001849.4(COL6A2):c.499G>A (p.Gly167Ser)	COL6A2 (G167S)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +4 more	GBenign/Likely benign
Select item 196330	NM_001849.4(COL6A2):c.510C>T (p.Cys170=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 282184	NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg)	COL6A2 (G171R)	Single nucleotide variant (missense variant)	Myosclerosis +4 more	GConflicting classifications of pathogenicity
Select item 258333	NM_001849.4(COL6A2):c.528G>A (p.Gln176=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +4 more	GBenign/Likely benign
Select item 290662	NM_001849.4(COL6A2):c.545A>G (p.Glu182Gly)	COL6A2 (E182G)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 290115	NM_001849.4(COL6A2):c.567C>T (p.Ala189=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 282463	NM_001849.4(COL6A2):c.568G>A (p.Val190Met)	COL6A2 (V190M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 284599	NM_001849.4(COL6A2):c.581A>G (p.Gln194Arg)	COL6A2 (Q194R)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 289046	NM_001849.4(COL6A2):c.596A>G (p.Gln199Arg)	COL6A2 (Q199R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 501308	NM_001849.4(COL6A2):c.605G>A (p.Arg202Gln)	COL6A2 (R202Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 286003	NM_001849.4(COL6A2):c.612C>T (p.Ile204=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 595393	NM_001849.4(COL6A2):c.619A>G (p.Thr207Ala)	COL6A2 (T207A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 580882	NM_001849.4(COL6A2):c.623C>T (p.Pro208Leu)	COL6A2 (P208L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 290661	NM_001849.4(COL6A2):c.627C>T (p.His209=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 288278	NM_001849.4(COL6A2):c.628G>A (p.Glu210Lys)	COL6A2 (E210K)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +2 more	GConflicting classifications of pathogenicity
Select item 498979	NM_001849.4(COL6A2):c.637C>T (p.Arg213Cys)	COL6A2 (R213C)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 282526	NM_001849.4(COL6A2):c.638G>A (p.Arg213His)	COL6A2 (R213H)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 288422	NM_001849.4(COL6A2):c.643G>A (p.Asp215Asn)	COL6A2 (D215N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 387297	NM_001849.4(COL6A2):c.648C>T (p.Tyr216=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 93955	NM_001849.4(COL6A2):c.663C>T (p.Pro221=)	COL6A2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 596773	NM_001849.4(COL6A2):c.664G>A (p.Asp222Asn)	COL6A2 (D222N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 284793	NM_001849.4(COL6A2):c.672C>T (p.Thr224=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 93956	NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn)	COL6A2 (D227N)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +4 more	GBenign/Likely benign
Select item 93959	NM_001849.4(COL6A2):c.714+9C>T	COL6A2	Single nucleotide variant (intron variant)	Collagen 6-related myopathy +4 more	GBenign/Likely benign
Select item 93957	NM_001849.4(COL6A2):c.714+29G>A	COL6A2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 93958	NM_001849.4(COL6A2):c.714+45C>T	COL6A2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 595226	NM_001849.4(COL6A2):c.715A>G (p.Lys239Glu)	COL6A2 (K239E)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 284993	NM_001849.4(COL6A2):c.729C>T (p.Tyr243=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 197202	NM_001849.4(COL6A2):c.730G>A (p.Gly244Arg)	COL6A2 (G244R)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 287953	NM_001849.4(COL6A2):c.735+7G>A	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 497048	NM_001849.4(COL6A2):c.736-7_739del	COL6A2	Deletion (splice acceptor variant)	not provided	GPathogenic
Select item 285965	NM_001849.4(COL6A2):c.736-7G>A	COL6A2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 374143	NM_001849.4(COL6A2):c.736-2A>G	COL6A2	Single nucleotide variant (splice acceptor variant)	Bethlem myopathy 1A +6 more	GPathogenic/Likely pathogenic
Select item 93960	NM_001849.4(COL6A2):c.759A>G (p.Glu253=)	COL6A2	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 284768	NM_001849.4(COL6A2):c.785G>A (p.Gly262Asp)	COL6A2 (G262D)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GPathogenic
Select item 283973	NM_001849.4(COL6A2):c.786C>G (p.Gly262=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 476492	NM_001849.4(COL6A2):c.790C>T (p.Arg264Cys)	COL6A2 (R264C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 285193	NM_001849.4(COL6A2):c.791G>A (p.Arg264His)	COL6A2 (R264H)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 497226	NM_001849.4(COL6A2):c.796_801+6del	COL6A2	Deletion (splice donor variant)	not provided	GPathogenic
Select item 286215	NM_001849.4(COL6A2):c.801+1G>T	COL6A2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 197732	NM_001849.4(COL6A2):c.801+1G>A	COL6A2	Single nucleotide variant (splice donor variant)	Bethlem myopathy 1A +2 more	GPathogenic
Select item 290251	NM_001849.4(COL6A2):c.802-2A>G	COL6A2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 56908	NM_001849.4(COL6A2):c.803G>A (p.Gly268Asp)	COL6A2 (G268D)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 198136	NM_001849.4(COL6A2):c.812G>A (p.Gly271Asp)	COL6A2 (G271D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 500904	NM_001849.4(COL6A2):c.830del (p.Gly277fs)	COL6A2 (G277fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 283293	NM_001849.4(COL6A2):c.828G>A (p.Pro276=)	COL6A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 93961	NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys)	COL6A2 (E278K)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 502380	NM_001849.4(COL6A2):c.838G>A (p.Gly280Ser)	COL6A2 (G280S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 286150	NM_001849.4(COL6A2):c.838G>C (p.Gly280Arg)	COL6A2 (G280R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 17167	NM_001849.4(COL6A2):c.847G>A (p.Gly283Arg)	COL6A2 (G283R)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 289114	NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu)	COL6A2 (G283E)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GPathogenic/Likely pathogenic
Select item 93962	NM_001849.4(COL6A2):c.855+2T>G	COL6A2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 595990	NM_001849.4(COL6A2):c.855+8T>C	COL6A2	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 290497	NM_001849.4(COL6A2):c.856-2A>C	COL6A2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 284386	NM_001849.4(COL6A2):c.857G>T (p.Gly286Val)	COL6A2 (G286V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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