COL6A3[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 335088	NM_004369.4(COL6A3):c.*754T>A	COL6A3	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 335089	NM_004369.4(COL6A3):c.*665G>T	COL6A3	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GBenign
Select item 335090	NM_004369.4(COL6A3):c.*663T>G	COL6A3	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GBenign
Select item 897588	NM_004369.4(COL6A3):c.*615G>A	COL6A3	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 335091	NM_004369.4(COL6A3):c.*606A>T	COL6A3	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GBenign
Select item 335092	NM_004369.4(COL6A3):c.*426G>A	COL6A3	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GLikely benign
Select item 335093	NM_004369.4(COL6A3):c.*377C>T	COL6A3	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 335094	NM_004369.4(COL6A3):c.*285A>G	COL6A3	Single nucleotide variant (3 prime UTR variant)	Collagen 6-related myopathy	GUncertain significance
Select item 498908	NM_004369.4(COL6A3):c.9345G>A (p.Pro3115=)	COL6A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 453005	NM_004369.4(COL6A3):c.9344C>T (p.Pro3115Leu)	COL6A3 (P3115L +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 598068	NM_004369.4(COL6A3):c.9339G>A (p.Lys3113=)	COL6A3	Single nucleotide variant (synonymous variant)	COL6A3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2822007	NM_004369.4(COL6A3):c.9334T>C (p.Cys3112Arg)	COL6A3 (C2505R +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2440469	NM_004369.4(COL6A3):c.9332T>C (p.Ile3111Thr)	COL6A3 (I2504T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 391584	NM_004369.4(COL6A3):c.9330T>A (p.Asp3110Glu)	COL6A3 (D3110E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1989305	NM_004369.4(COL6A3):c.9329A>C (p.Asp3110Ala)	COL6A3 (D2503A +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2761094	NM_004369.4(COL6A3):c.9329-4A>G	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 335096	NM_004369.4(COL6A3):c.9329-4A>T	COL6A3	Single nucleotide variant (intron variant)	Collagen 6-related myopathy +2 more	GBenign/Likely benign
Select item 1985550	NM_004369.4(COL6A3):c.9329-7A>T	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 1141208	NM_004369.4(COL6A3):c.9329-8T>C	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2791406	NM_004369.4(COL6A3):c.9329-14T>A	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2049720	NM_004369.4(COL6A3):c.9329-18C>A	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 95020	NM_004369.4(COL6A3):c.9329-33C>T	COL6A3	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1230557	NM_004369.4(COL6A3):c.9328+212A>C	COL6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2125964	NM_004369.4(COL6A3):c.9328+8G>A	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 1161652	NM_004369.4(COL6A3):c.9328+8G>T	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2762538	NM_004369.4(COL6A3):c.9328+3G>A	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GUncertain significance
Select item 476403	NC_000002.12:g.(?_237333450)_(237334889_?)del	COL6A3	Deletion	Bethlem myopathy 1A	GUncertain significance
Select item 3016833	NM_004369.4(COL6A3):c.9326C>T (p.Thr3109Ile)	COL6A3 (T2942I +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1381797	NM_004369.4(COL6A3):c.9316C>T (p.Leu3106Phe)	COL6A3 (L2900F +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 2719419	NM_004369.4(COL6A3):c.9310T>C (p.Leu3104=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 954822	NM_004369.4(COL6A3):c.9308C>A (p.Pro3103Gln)	COL6A3 (P2897Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1622783	NM_004369.4(COL6A3):c.9303A>G (p.Thr3101=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 282275	NM_004369.4(COL6A3):c.9290T>C (p.Leu3097Pro)	COL6A3 (L3097P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 423312	NM_004369.4(COL6A3):c.9284T>C (p.Ile3095Thr)	COL6A3 (I3095T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 845090	NM_004369.4(COL6A3):c.9281C>T (p.Thr3094Ile)	COL6A3 (T2487I +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 577698	NM_004369.4(COL6A3):c.9250C>T (p.Pro3084Ser)	COL6A3 (P3084S +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 755673	NM_004369.4(COL6A3):c.9249T>A (p.Pro3083=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 1970018	NM_004369.4(COL6A3):c.9248C>T (p.Pro3083Leu)	COL6A3 (P2916L +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 197464	NM_004369.4(COL6A3):c.9248C>A (p.Pro3083His)	COL6A3 (P3083H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2825778	NM_004369.4(COL6A3):c.9247C>T (p.Pro3083Ser)	COL6A3 (P2476S +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1436317	NM_004369.4(COL6A3):c.9245C>T (p.Pro3082Leu)	COL6A3 (P2475L +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 192262	NM_004369.4(COL6A3):c.9245C>G (p.Pro3082Arg)	COL6A3 (P3082R +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1034891	NM_004369.4(COL6A3):c.9241C>T (p.Pro3081Ser)	COL6A3 (P2474S +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2574637	NM_004369.4(COL6A3):c.9234del (p.Lys3078fs)	COL6A3 (K2471fs +2 more)	Deletion (frameshift variant)	Tip-toe gait	GLikely pathogenic
Select item 2912382	NM_004369.4(COL6A3):c.9231G>T (p.Lys3077Asn)	COL6A3 (K2871N +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2019792	NM_004369.4(COL6A3):c.9230-1G>A	COL6A3	Single nucleotide variant (splice acceptor variant)	Bethlem myopathy 1A	GLikely pathogenic
Select item 593659	NM_004369.4(COL6A3):c.9230-4A>G	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 2746053	NM_004369.4(COL6A3):c.9230-19A>G	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 2811146	NM_004369.4(COL6A3):c.9230-20del	COL6A3	Deletion (intron variant)	Bethlem myopathy 1A	GLikely benign
Select item 677544	NM_004369.4(COL6A3):c.9230-173T>C	COL6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201661	NM_004369.4(COL6A3):c.9230-202G>A	COL6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678387	NM_004369.4(COL6A3):c.9230-203C>T	COL6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677543	NM_004369.4(COL6A3):c.9229+245T>A	COL6A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217120	NM_004369.4(COL6A3):c.9229+110A>G	COL6A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2127412	NM_004369.4(COL6A3):c.9229+4_9229+7del	COL6A3	Microsatellite (splice donor variant)	Bethlem myopathy 1A	GUncertain significance
Select item 569960	NM_004369.4(COL6A3):c.9229+4A>C	COL6A3	Single nucleotide variant (intron variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2811123	NM_004369.4(COL6A3):c.9218G>A (p.Ser3073Asn)	COL6A3 (S2873N +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 430329	NM_004369.4(COL6A3):c.9217A>G (p.Ser3073Gly)	COL6A3 (S3073G +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +2 more	GConflicting classifications of pathogenicity
Select item 2156247	NM_004369.4(COL6A3):c.9214G>A (p.Gly3072Arg)	COL6A3 (G2866R +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 95019	NM_004369.4(COL6A3):c.9213C>T (p.His3071=)	COL6A3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1635646	NM_004369.4(COL6A3):c.9210C>T (p.Tyr3070=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 283406	NM_004369.4(COL6A3):c.9209A>G (p.Tyr3070Cys)	COL6A3 (Y3070C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 95018	NM_004369.4(COL6A3):c.9206C>T (p.Thr3069Ile)	COL6A3 (T2462I +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 2725806	NM_004369.4(COL6A3):c.9203C>T (p.Ala3068Val)	COL6A3 (A2868V +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2440431	NM_004369.4(COL6A3):c.9201A>C (p.Arg3067Ser)	COL6A3 (R2460S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 740619	NM_004369.4(COL6A3):c.9201A>G (p.Arg3067=)	COL6A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 497592	NM_004369.4(COL6A3):c.9198C>T (p.Val3066=)	COL6A3	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +2 more	GConflicting classifications of pathogenicity
Select item 288739	NM_004369.4(COL6A3):c.9193C>T (p.Gln3065Ter)	COL6A3 (Q3065* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 595563	NM_004369.4(COL6A3):c.9192T>G (p.Ser3064=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +1 more	GConflicting classifications of pathogenicity
Select item 1999131	NM_004369.4(COL6A3):c.9188G>A (p.Arg3063Lys)	COL6A3 (R2863K +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 2057479	NM_004369.4(COL6A3):c.9182A>C (p.Tyr3061Ser)	COL6A3 (Y2894S +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 284054	NM_004369.4(COL6A3):c.9180C>G (p.Cys3060Trp)	COL6A3 (C3060W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2441647	NM_004369.4(COL6A3):c.9175del (p.Val3059fs)	COL6A3 (V2452fs +2 more)	Deletion (frameshift variant)	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
Select item 2185491	NM_004369.4(COL6A3):c.9175G>T (p.Val3059Phe)	COL6A3 (V2859F +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1397705	NM_004369.4(COL6A3):c.9160_9163dup (p.His3055fs)	COL6A3 (H2448fs +2 more)	Duplication (frameshift variant)	Bethlem myopathy 1A	GPathogenic
Select item 2440429	NM_004369.4(COL6A3):c.9152G>C (p.Gly3051Ala)	COL6A3 (G2444A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 335097	NM_004369.4(COL6A3):c.9148G>A (p.Ala3050Thr)	COL6A3 (A3050T +2 more)	Single nucleotide variant (missense variant)	Dystonia 27 +4 more	GConflicting classifications of pathogenicity
Select item 289357	NM_004369.4(COL6A3):c.9147C>T (p.Leu3049=)	COL6A3	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2085399	NM_004369.4(COL6A3):c.9138A>G (p.Gly3046=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 2742169	NM_004369.4(COL6A3):c.9137G>T (p.Gly3046Val)	COL6A3 (G2846V +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2162963	NM_004369.4(COL6A3):c.9133A>G (p.Ile3045Val)	COL6A3 (I2438V +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 283949	NM_004369.4(COL6A3):c.9130G>A (p.Val3044Ile)	COL6A3 (V3044I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 95017	NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=)	COL6A3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 192261	NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His)	COL6A3 (R3043H +2 more)	Single nucleotide variant (missense variant)	COL6A3-related condition +4 more	GBenign/Likely benign
Select item 2854910	NM_004369.4(COL6A3):c.9127C>T (p.Arg3043Cys)	COL6A3 (R2876C +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 95016	NM_004369.4(COL6A3):c.9123G>A (p.Thr3041=)	COL6A3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1380504	NM_004369.4(COL6A3):c.9122C>T (p.Thr3041Met)	COL6A3 (T2434M +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 282838	NM_004369.4(COL6A3):c.9117G>A (p.Thr3039=)	COL6A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 288613	NM_004369.4(COL6A3):c.9116C>T (p.Thr3039Met)	COL6A3 (T3039M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1622292	NM_004369.4(COL6A3):c.9096G>T (p.Leu3032=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A	GLikely benign
Select item 291122	NM_004369.4(COL6A3):c.9096G>C (p.Leu3032=)	COL6A3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2063844	NM_004369.4(COL6A3):c.9093C>T (p.Ser3031=)	COL6A3	Single nucleotide variant (synonymous variant)	Bethlem myopathy 1A +1 more	GLikely benign
Select item 476567	NM_004369.4(COL6A3):c.9087T>A (p.Asp3029Glu)	COL6A3 (D3029E +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2820825	NM_004369.4(COL6A3):c.9083A>C (p.His3028Pro)	COL6A3 (H2861P +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 2710035	NM_004369.4(COL6A3):c.9083A>G (p.His3028Arg)	COL6A3 (H2421R +4 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 999696	NM_004369.4(COL6A3):c.9082C>T (p.His3028Tyr)	COL6A3 (H2421Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 594655	NM_004369.4(COL6A3):c.9080C>T (p.Ala3027Val)	COL6A3 (A3027V +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +1 more	GUncertain significance
Select item 1479435	NM_004369.4(COL6A3):c.9076T>C (p.Ser3026Pro)	COL6A3 (S2820P +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GUncertain significance
Select item 1035845	NM_004369.4(COL6A3):c.9070G>A (p.Val3024Ile)	COL6A3 (V2417I +2 more)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A	GLikely benign
Select item 95015	NM_004369.4(COL6A3):c.9069C>T (p.Thr3023=)	COL6A3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign

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