"Ambry Genetics"[submitter] AND "COL6A2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3268795	NM_001849.4(COL6A2):c.74T>A (p.Val25Asp)	COL6A2 (V25D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255072	NM_001849.4(COL6A2):c.82C>G (p.Pro28Ala)	COL6A2 (P28A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1512227	NM_001849.4(COL6A2):c.136C>T (p.His46Tyr)	COL6A2 (H46Y)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 1024988	NM_001849.4(COL6A2):c.199C>T (p.Leu67Phe)	COL6A2 (L67F)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
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 1015068	NM_001849.4(COL6A2):c.250G>A (p.Glu84Lys)	COL6A2 (E84K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2799598	NM_001849.4(COL6A2):c.263A>G (p.Asp88Gly)	COL6A2 (D88G)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
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 1379882	NM_001849.4(COL6A2):c.338G>A (p.Ser113Asn)	COL6A2 (S113N)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 842850	NM_001849.4(COL6A2):c.356T>C (p.Ile119Thr)	COL6A2 (I119T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2243780	NM_001849.4(COL6A2):c.421A>G (p.Met141Val)	COL6A2 (M141V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 575249	NM_001849.4(COL6A2):c.422T>C (p.Met141Thr)	COL6A2 (M141T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 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 2222386	NM_001849.4(COL6A2):c.527A>C (p.Gln176Pro)	COL6A2 (Q176P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 839276	NM_001849.4(COL6A2):c.532G>A (p.Glu178Lys)	COL6A2 (E178K)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 2406420	NM_001849.4(COL6A2):c.533A>C (p.Glu178Ala)	COL6A2 (E178A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 340361	NM_001849.4(COL6A2):c.542G>A (p.Arg181His)	COL6A2 (R181H)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +4 more	GConflicting classifications of pathogenicity
Select item 660357	NM_001849.4(COL6A2):c.556C>T (p.Arg186Trp)	COL6A2 (R186W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 840111	NM_001849.4(COL6A2):c.658C>A (p.Leu220Met)	COL6A2 (L220M)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 656729	NM_001849.4(COL6A2):c.673G>A (p.Glu225Lys)	COL6A2 (E225K)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 951037	NM_001849.4(COL6A2):c.694A>G (p.Asn232Asp)	COL6A2 (N232D)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GUncertain significance
Select item 968454	NM_001849.4(COL6A2):c.817A>T (p.Met273Leu)	COL6A2 (M273L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2139521	NM_001849.4(COL6A2):c.896C>A (p.Pro299His)	COL6A2 (P299H)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 521397	NM_001849.4(COL6A2):c.902G>A (p.Gly301Asp)	COL6A2 (G301D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 199070	NM_001849.4(COL6A2):c.933A>T (p.Glu311Asp)	COL6A2 (E311D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 502230	NM_001849.4(COL6A2):c.950G>A (p.Arg317His)	COL6A2 (R317H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 520800	NM_001849.4(COL6A2):c.955-2A>G	COL6A2	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GPathogenic
Select item 650916	NM_001849.4(COL6A2):c.961C>T (p.Pro321Ser)	COL6A2 (P321S)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 2235116	NM_001849.4(COL6A2):c.991G>A (p.Gly331Arg)	COL6A2 (G331R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 285711	NM_001849.4(COL6A2):c.1012C>T (p.Arg338Cys)	COL6A2 (R338C)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 2301885	NM_001849.4(COL6A2):c.1018G>A (p.Gly340Arg)	COL6A2 (G340R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490373	NM_001849.4(COL6A2):c.1022C>T (p.Pro341Leu)	COL6A2 (P341L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 596931	NM_001849.4(COL6A2):c.1052G>A (p.Arg351Gln)	COL6A2 (R351Q)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GUncertain significance
Select item 899068	NM_001849.4(COL6A2):c.1097G>A (p.Arg366Gln)	COL6A2 (R366Q)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +2 more	GConflicting classifications of pathogenicity
Select item 642365	NM_001849.4(COL6A2):c.1118G>C (p.Gly373Ala)	COL6A2 (G373A)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 2440405	NM_001849.4(COL6A2):c.1139G>A (p.Arg380His)	COL6A2 (R380H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2688836	NM_001849.4(COL6A2):c.1165G>T (p.Ala389Ser)	COL6A2 (A389S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2038155	NM_001849.4(COL6A2):c.1250G>A (p.Arg417His)	COL6A2 (R417H)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 1019019	NM_001849.4(COL6A2):c.1250G>T (p.Arg417Leu)	COL6A2 (R417L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 194621	NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn)	COL6A2 (D446N)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +6 more	GConflicting classifications of pathogenicity
Select item 1045024	NM_001849.4(COL6A2):c.1360G>A (p.Gly454Ser)	COL6A2 (G454S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2729149	NM_001849.4(COL6A2):c.1426C>T (p.Pro476Ser)	COL6A2 (P476S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 498126	NM_001849.4(COL6A2):c.1427C>A (p.Pro476His)	COL6A2 (P476H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1017099	NM_001849.4(COL6A2):c.1463C>T (p.Ser488Phe)	COL6A2 (S488F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3268797	NM_001849.4(COL6A2):c.1478G>A (p.Gly493Asp)	COL6A2 (G493D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1009267	NM_001849.4(COL6A2):c.1492C>T (p.Arg498Cys)	COL6A2 (R498C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 287891	NM_001849.4(COL6A2):c.1562G>A (p.Arg521Gln)	COL6A2 (R521Q)	Single nucleotide variant (missense variant)	Ullrich congenital muscular dystrophy 1B +4 more	GConflicting classifications of pathogenicity
Select item 3268796	NM_001849.4(COL6A2):c.1588C>G (p.Pro530Ala)	COL6A2 (P530A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2162956	NM_001849.4(COL6A2):c.1657G>A (p.Glu553Lys)	COL6A2 (E553K)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 838220	NM_001849.4(COL6A2):c.1673C>T (p.Ala558Val)	COL6A2 (A558V)	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +2 more	GConflicting classifications of pathogenicity
Select item 283336	NM_001849.4(COL6A2):c.1685C>T (p.Pro562Leu)	COL6A2 (P562L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 284687	NM_001849.4(COL6A2):c.1705C>T (p.Arg569Trp)	COL6A2 (R569W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 290927	NM_001849.4(COL6A2):c.1720G>C (p.Val574Leu)	COL6A2 (V574L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 895000	NM_001849.4(COL6A2):c.1732G>A (p.Glu578Lys)	COL6A2 (E578K)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GUncertain significance
Select item 282615	NM_001849.4(COL6A2):c.1750C>T (p.Pro584Ser)	COL6A2 (P584S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 835401	NM_001849.4(COL6A2):c.1765C>T (p.Leu589Phe)	COL6A2 (L589F)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 1499204	NM_001849.4(COL6A2):c.1811G>A (p.Cys604Tyr)	COL6A2 (C604Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2269596	NM_001849.4(COL6A2):c.1820G>A (p.Cys607Tyr)	COL6A2 (C607Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1921109	NM_001849.4(COL6A2):c.1835G>C (p.Gly612Ala)	COL6A2 (G612A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2148035	NM_001849.4(COL6A2):c.1889A>G (p.Asn630Ser)	COL6A2 (N630S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2309095	NM_001849.4(COL6A2):c.1984G>A (p.Val662Met)	COL6A2 (V662M)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 2469978	NM_001849.4(COL6A2):c.2032G>A (p.Asp678Asn)	COL6A2 (D678N)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 1049390	NM_001849.4(COL6A2):c.2054C>T (p.Ser685Leu)	COL6A2 (S685L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 2202354	NM_001849.4(COL6A2):c.2079C>A (p.Asn693Lys)	COL6A2 (N693K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 580074	NM_001849.4(COL6A2):c.2153G>A (p.Ser718Asn)	COL6A2 (S718N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 283333	NM_001849.4(COL6A2):c.2159G>A (p.Arg720His)	COL6A2 (R720H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 284693	NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg)	COL6A2 (G733R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2266440	NM_001849.4(COL6A2):c.2230T>G (p.Leu744Val)	COL6A2 (L744V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2037591	NM_001849.4(COL6A2):c.2249G>A (p.Arg750His)	COL6A2 (R750H)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 2390689	NM_001849.4(COL6A2):c.2284A>G (p.Met762Val)	COL6A2 (M762V)	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 3147682	NM_001849.4(COL6A2):c.2357T>A (p.Met786Lys)	COL6A2 (M786K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 476468	NM_001849.4(COL6A2):c.2407G>A (p.Asp803Asn)	COL6A2 (D803N)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 501834	NM_001849.4(COL6A2):c.2410G>A (p.Val804Ile)	COL6A2 (V804I)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +3 more	GConflicting classifications of pathogenicity
Select item 2339032	NM_001849.4(COL6A2):c.2459C>G (p.Thr820Arg)	COL6A2 (T820R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 290609	NM_001849.4(COL6A2):c.2483C>T (p.Thr828Met)	COL6A2 (T828M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1582979	NM_001849.4(COL6A2):c.2548C>T (p.His850Tyr)	COL6A2 (H850Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 162539	NM_001849.4(COL6A2):c.2566G>A (p.Val856Met)	COL6A2 (V856M)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +4 more	GConflicting classifications of pathogenicity
Select item 1056152	NM_001849.4(COL6A2):c.2590A>T (p.Thr864Ser)	COL6A2 (T864S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 288567	NM_001849.4(COL6A2):c.2623G>A (p.Ala875Thr)	COL6A2 (A875T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1907853	NM_001849.4(COL6A2):c.2666A>G (p.Gln889Arg)	COL6A2 (Q889R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 998828	NM_001849.4(COL6A2):c.2678C>T (p.Pro893Leu)	COL6A2 (P893L)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 2826581	NM_001849.4(COL6A2):c.2710G>A (p.Ala904Thr)	COL6A2 (A904T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2560106	NM_001849.4(COL6A2):c.2731C>G (p.Leu911Val)	COL6A2 (L911V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 854033	NM_001849.4(COL6A2):c.2755G>A (p.Ala919Thr)	COL6A2 (A919T)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 93946	NM_001849.4(COL6A2):c.2761G>A (p.Val921Met)	COL6A2	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 645391	NM_001849.4(COL6A2):c.2863G>A (p.Asp955Asn)	COL6A2 (D955N)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 2261711	NM_001849.4(COL6A2):c.2905G>T (p.Val969Leu)	COL6A2 (V969L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616666	NM_001849.4(COL6A2):c.2915C>G (p.Thr972Ser)	COL6A2 (T972S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2150471	NM_001849.4(COL6A2):c.2971G>A (p.Gly991Ser)	COL6A2 (G991S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2491426	NM_001849.4(COL6A2):c.2990T>A (p.Phe997Tyr)	COL6A2 (F997Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 289754	NM_001849.4(COL6A2):c.2995G>A (p.Glu999Lys)	COL6A2 (E999K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 285469	NM_001849.4(COL6A2):c.2998A>G (p.Lys1000Glu)	COL6A2 (K1000E)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 2440394	NM_001849.4(COL6A2):c.3016G>A (p.Ala1006Thr)	COL6A2 (A1006T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 287718	NM_001849.4(COL6A2):c.3025G>A (p.Gly1009Ser)	COL6A2 (G1009S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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