ClinVar for MedGen (Select 893688) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26270541.	NM_004369.4(COL6A3):c.6152C>T (p.Pro2051Leu) GRCh37: Chr2:238270386 GRCh38: Chr2:237361743	COL6A3	P1444L, P1845L, P1851L, P1884L, P2051L	Bethlem myopathy 1	Uncertain significance (Oct 30, 2023)	no assertion criteria provided
Select item 25852132.	NM_004369.4(COL6A3):c.120A>G (p.Ile40Met) GRCh37: Chr2:238303819 GRCh38: Chr2:237395176	COL6A3	I40M	Bethlem myopathy 1	Uncertain significance	criteria provided, single submitter
Select item 25849543.	NM_001848.3(COL6A1):c.211G>A (p.Asp71Asn) GRCh37: Chr21:47402661 GRCh38: Chr21:45982747	COL6A1	D71N	Bethlem myopathy 1	Uncertain significance	criteria provided, single submitter
Select item 25827224.	NM_004369.4(COL6A3):c.6752G>A (p.Arg2251Gln) GRCh37: Chr2:238261166 GRCh38: Chr2:237352523	COL6A3	R1644Q, R2045Q, R2051Q, R2084Q, R2251Q	Bethlem myopathy 1	Uncertain significance (Oct 9, 2023)	no assertion criteria provided
Select item 25827185.	NM_004369.4(COL6A3):c.1630C>T (p.Arg544Trp) GRCh37: Chr2:238289825 GRCh38: Chr2:237381182	COL6A3	R137W, R338W, R544W	Bethlem myopathy 1	Uncertain significance (Oct 9, 2023)	no assertion criteria provided
Select item 25802336.	NM_001849.4(COL6A2):c.1275_1282del (p.Arg426fs) GRCh37: Chr21:47539706-47539713 GRCh38: Chr21:46119792-46119799	COL6A2	R426fs	Bethlem myopathy 1	Likely pathogenic	criteria provided, single submitter
Select item 25792267.	GRCh38/hg38 21q22.3(chr21:46111353-46119948)x1 GRCh38: Chr21:46111353-46119948	COL6A2		Bethlem myopathy 1	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25784548.	NM_001848.3(COL6A1):c.1111G>A (p.Gly371Arg) GRCh37: Chr21:47410947 GRCh38: Chr21:45991033	COL6A1	G371R	Bethlem myopathy 1	Likely pathogenic	no assertion criteria provided
Select item 25783329.	NM_004369.4(COL6A3):c.9477A>C (p.Glu3159Asp) GRCh37: Chr2:238234219 GRCh38: Chr2:237325576	COL6A3, LOC126806573	E2552D, E2953D, E2959D, E2992D, E3159D	Bethlem myopathy 1	Uncertain significance (Apr 21, 2023)	no assertion criteria provided
Select item 250096810.	NM_001849.4(COL6A2):c.736-6T>C GRCh37: Chr21:47533916 GRCh38: Chr21:46114002	COL6A2		Bethlem myopathy 1	Uncertain significance (May 2, 2023)	criteria provided, single submitter
Select item 244438411.	NM_001849.4(COL6A2):c.2638_2656dup (p.Gly886fs) GRCh37: Chr21:47552042-47552043 GRCh38: Chr21:46132128-46132129	COL6A2	G886fs	Bethlem myopathy 1	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244428212.	NM_001849.4(COL6A2):c.1817-2A>C GRCh37: Chr21:47545377 GRCh38: Chr21:46125463	COL6A2		Bethlem myopathy 1	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244407813.	NM_001849.4(COL6A2):c.1382dup (p.Asn461fs) GRCh37: Chr21:47540476-47540477 GRCh38: Chr21:46120562-46120563	COL6A2	N461fs	Bethlem myopathy 1	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244167514.	NM_004369.4(COL6A3):c.6283-28A>G GRCh37: Chr2:238268059 GRCh38: Chr2:237359416	COL6A3, LOC122889011		Bethlem myopathy 1	Uncertain significance (Nov 3, 2022)	criteria provided, single submitter
Select item 243163115.	NM_004369.4(COL6A3):c.5146C>T (p.His1716Tyr) GRCh37: Chr2:238275684 GRCh38: Chr2:237367041	COL6A3	H1109Y, H1510Y, H1516Y, H1549Y, H1716Y	Bethlem myopathy 1	Uncertain significance (Dec 16, 2022)	criteria provided, single submitter
Select item 242876116.	NM_001848.3(COL6A1):c.2551_2562del (p.Phe851_Arg854del) GRCh37: Chr21:47423383-47423394 GRCh38: Chr21:46003469-46003480	COL6A1		Bethlem myopathy 1	Pathogenic	criteria provided, single submitter
Select item 242841217.	NM_001849.4(COL6A2):c.999+12C>T GRCh37: Chr21:47536740 GRCh38: Chr21:46116826	COL6A2		Bethlem myopathy 1	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 242828718.	NM_004369.4(COL6A3):c.7040G>A (p.Gly2347Glu) GRCh37: Chr2:238255198 GRCh38: Chr2:237346555	COL6A3	G1740E, G2141E, G2147E, G2180E, G2347E	Bethlem myopathy 1	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 242508619.	NC_000002.11:g.(?_238233417)_(238428692_?)dup GRCh37: Chr2:238233417-238428692	COL6A3, MLPH		Bethlem myopathy 1	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 242508520.	NC_000002.11:g.(?_236403331)_(242801596_?)del GRCh37: Chr2:236403331-242801596	AQP12A, AQP12B, BOK, CAPN10, COL6A3, COPS8, DTYMK, DUSP28, ERFE, COPS9, D2HGDH, ESPNL, FARP2, ASB1, ASB18, ATG4B, GAL3ST2, GBX2, ANO7, ACKR3, AGAP1, AGXT, ANKMY1, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, IQCA1, KIF1A, KLHL30, LRRFIP1, MAB21L4, MIR149, MLPH, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, RAB17, RAMP1, RBM44, RNPEPL1, SCLY, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2, UBE2F		Bethlem myopathy 1	Pathogenic (Oct 15, 2022)	criteria provided, single submitter
Select item 242508421.	NC_000002.11:g.(?_238272973)_(238281000_?)del GRCh37: Chr2:238272973-238281000	COL6A3		Bethlem myopathy 1	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 242426322.	NC_000021.8:g.(?_47529674)_(47540994_?)del GRCh37: Chr21:47529674-47540994	COL6A2		Bethlem myopathy 1	Pathogenic (Sep 16, 2021)	criteria provided, single submitter
Select item 242426223.	NC_000021.8:g.(?_47542769)_(47546475_?)dup GRCh37: Chr21:47542769-47546475	COL6A2		Bethlem myopathy 1	Likely pathogenic (Oct 4, 2022)	criteria provided, single submitter
Select item 242426124.	NC_000021.8:g.(?_47551858)_(47552476_?)dup GRCh37: Chr21:47551858-47552476	COL6A2		Bethlem myopathy 1	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 242426025.	NC_000021.8:g.(?_47423046)_(47429562_?)del GRCh37: Chr21:47423046-47429562	COL6A1		Bethlem myopathy 1	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 242425926.	NC_000021.8:g.(?_47417315)_(47423927_?)dup GRCh37: Chr21:47417315-47423927	COL6A1		Bethlem myopathy 1	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 242174827.	NM_001848.3(COL6A1):c.1336-16G>T GRCh37: Chr21:47414065 GRCh38: Chr21:45994151	COL6A1		Bethlem myopathy 1	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 242113228.	NM_004369.4(COL6A3):c.7125+11T>C GRCh37: Chr2:238253813 GRCh38: Chr2:237345170	COL6A3		Bethlem myopathy 1	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 242109429.	NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGCGGGGCCGCCCAGGGCCGTCCCAGATCTGCGTAGGTGCACGCGGGGCC GRCh37: Chr21:47422632-47422633 GRCh38: Chr21:46002718-46002719	COL6A1		Bethlem myopathy 1	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 242096430.	NM_001848.3(COL6A1):c.543C>G (p.His181Gln) GRCh37: Chr21:47406554 GRCh38: Chr21:45986640	COL6A1	H181Q	not provided, Bethlem myopathy 1	Conflicting interpretations of pathogenicity (Oct 1, 2022)	criteria provided, conflicting interpretations
Select item 242058331.	NM_004369.4(COL6A3):c.3911C>T (p.Pro1304Leu) GRCh37: Chr2:238280749 GRCh38: Chr2:237372106	COL6A3	P1098L, P1304L, P697L, P897L	Bethlem myopathy 1	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 242036832.	NM_001849.4(COL6A2):c.2638C>A (p.Leu880Met) GRCh37: Chr21:47552044 GRCh38: Chr21:46132130	COL6A2	L880M	not provided, Bethlem myopathy 1	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 241971333.	NM_001849.4(COL6A2):c.2214G>A (p.Arg738=) GRCh37: Chr21:47545943 GRCh38: Chr21:46126029	COL6A2		Bethlem myopathy 1	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 241760334.	NM_004369.4(COL6A3):c.4698G>A (p.Ser1566=) GRCh37: Chr2:238277408 GRCh38: Chr2:237368765	COL6A3		Bethlem myopathy 1	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 241747735.	NM_004369.4(COL6A3):c.7768A>T (p.Ile2590Phe) GRCh37: Chr2:238249791 GRCh38: Chr2:237341148	COL6A3	I1983F, I2384F, I2390F, I2423F, I2590F	Bethlem myopathy 1	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 241739136.	NM_004369.4(COL6A3):c.6157-16G>C GRCh37: Chr2:238269833 GRCh38: Chr2:237361190	COL6A3		Bethlem myopathy 1	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 241738537.	NM_004369.4(COL6A3):c.8861C>A (p.Pro2954His) GRCh37: Chr2:238244882 GRCh38: Chr2:237336239	COL6A3	P2347H, P2748H, P2754H, P2787H, P2954H	Bethlem myopathy 1	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 241707438.	NM_001849.4(COL6A2):c.742A>G (p.Lys248Glu) GRCh37: Chr21:47533928 GRCh38: Chr21:46114014	COL6A2	K248E	Bethlem myopathy 1	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 241706639.	NM_004369.4(COL6A3):c.1705G>T (p.Ala569Ser) GRCh37: Chr2:238289750 GRCh38: Chr2:237381107	COL6A3	A162S, A363S, A569S	Bethlem myopathy 1	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 241614940.	NM_004369.4(COL6A3):c.5688C>A (p.Gly1896=) GRCh37: Chr2:238274491 GRCh38: Chr2:237365848	COL6A3		Bethlem myopathy 1	Likely benign (Apr 3, 2022)	criteria provided, single submitter
Select item 241597041.	NM_004369.4(COL6A3):c.6283-14G>A GRCh37: Chr2:238268045 GRCh38: Chr2:237359402	COL6A3, LOC122889011		Bethlem myopathy 1	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 241550042.	NM_001849.4(COL6A2):c.1817-4C>A GRCh37: Chr21:47545375 GRCh38: Chr21:46125461	COL6A2		Bethlem myopathy 1	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 241458243.	NM_001849.4(COL6A2):c.1180-15C>T GRCh37: Chr21:47538929 GRCh38: Chr21:46119015	COL6A2		Bethlem myopathy 1	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 241447444.	NM_004369.4(COL6A3):c.1654C>T (p.Leu552Phe) GRCh37: Chr2:238289801 GRCh38: Chr2:237381158	COL6A3	L145F, L346F, L552F	Bethlem myopathy 1	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 241426645.	NM_004369.4(COL6A3):c.9013G>A (p.Ala3005Thr) GRCh37: Chr2:238243485 GRCh38: Chr2:237334842	COL6A3	A2398T, A2799T, A2805T, A2838T, A3005T	Bethlem myopathy 1	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 241408246.	NM_004369.4(COL6A3):c.1288A>G (p.Lys430Glu) GRCh37: Chr2:238296249 GRCh38: Chr2:237387606	COL6A3	K224E, K430E	Bethlem myopathy 1	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 241353647.	NM_001849.4(COL6A2):c.124G>T (p.Asp42Tyr) GRCh37: Chr21:47531901 GRCh38: Chr21:46111987	COL6A2	D42Y	Bethlem myopathy 1	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 241349648.	NM_001849.4(COL6A2):c.1395+9_1395+38del GRCh37: Chr21:47540487-47540516 GRCh38: Chr21:46120573-46120602	COL6A2		Bethlem myopathy 1	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 220368249.	NM_004369.4(COL6A3):c.7191C>T (p.Pro2397=) GRCh37: Chr2:238253470 GRCh38: Chr2:237344827	COL6A3		Bethlem myopathy 1	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 220336350.	NM_004369.4(COL6A3):c.8740C>T (p.Pro2914Ser) GRCh37: Chr2:238245003 GRCh38: Chr2:237336360	COL6A3	P2714S, P2307S, P2747S, P2708S, P2914S	Bethlem myopathy 1	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 220329351.	NM_004369.4(COL6A3):c.176G>A (p.Arg59Gln) GRCh37: Chr2:238303763 GRCh38: Chr2:237395120	COL6A3	R59Q	Bethlem myopathy 1	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 220329252.	NM_004369.4(COL6A3):c.3347T>C (p.Leu1116Pro) GRCh37: Chr2:238283387 GRCh38: Chr2:237374744	COL6A3	L709P, L910P, L509P, L1116P	Bethlem myopathy 1	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 220329153.	NM_004369.4(COL6A3):c.6221G>A (p.Gly2074Asp) GRCh37: Chr2:238268792 GRCh38: Chr2:237360149	COL6A3	G1467D, G1907D, G2074D, G1868D, G1874D	Bethlem myopathy 1	Likely pathogenic (May 16, 2022)	criteria provided, single submitter
Select item 220329054.	NM_004369.4(COL6A3):c.7162+1G>A GRCh37: Chr2:238253700 GRCh38: Chr2:237345057	COL6A3		Bethlem myopathy 1	Likely pathogenic (Apr 6, 2022)	criteria provided, single submitter
Select item 220247755.	NM_004369.4(COL6A3):c.8031T>C (p.Asn2677=) GRCh37: Chr2:238249528 GRCh38: Chr2:237340885	COL6A3		Bethlem myopathy 1	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 220242256.	NM_004369.4(COL6A3):c.1174A>G (p.Ile392Val) GRCh37: Chr2:238296363 GRCh38: Chr2:237387720	COL6A3	I392V, I186V	Bethlem myopathy 1	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 220235457.	NM_001849.4(COL6A2):c.2079C>A (p.Asn693Lys) GRCh37: Chr21:47545808 GRCh38: Chr21:46125894	COL6A2	N693K	Bethlem myopathy 1	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 220224358.	NM_004369.4(COL6A3):c.2844C>T (p.Val948=) GRCh37: Chr2:238285641 GRCh38: Chr2:237376998	COL6A3		Bethlem myopathy 1	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 220212559.	NM_001848.3(COL6A1):c.1777-20C>G GRCh37: Chr21:47420225 GRCh38: Chr21:46000311	COL6A1		Bethlem myopathy 1	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 220211960.	NM_004369.4(COL6A3):c.3074C>T (p.Ser1025Leu) GRCh37: Chr2:238283660 GRCh38: Chr2:237375017	COL6A3	S618L, S819L, S1025L, S418L	Inborn genetic diseases, Bethlem myopathy 1	Uncertain significance (Jun 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 220159161.	NM_001848.3(COL6A1):c.804+20C>T GRCh37: Chr21:47407588 GRCh38: Chr21:45987674	COL6A1		Bethlem myopathy 1	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 220153162.	NM_001848.3(COL6A1):c.931-8C>G GRCh37: Chr21:47410164 GRCh38: Chr21:45990250	COL6A1		Bethlem myopathy 1	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 220136163.	NM_004369.4(COL6A3):c.400G>A (p.Ala134Thr) GRCh37: Chr2:238303539 GRCh38: Chr2:237394896	COL6A3	A134T	Bethlem myopathy 1	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 220132664.	NM_004369.4(COL6A3):c.2497+20G>A GRCh37: Chr2:238287259 GRCh38: Chr2:237378616	COL6A3		Bethlem myopathy 1	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 220094165.	NM_001848.3(COL6A1):c.1398+18G>A GRCh37: Chr21:47414161 GRCh38: Chr21:45994247	COL6A1		Bethlem myopathy 1	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 220053166.	NM_004369.4(COL6A3):c.9494-9G>A GRCh37: Chr2:238233466 GRCh38: Chr2:237324823	COL6A3, LOC126806573		Bethlem myopathy 1	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 220031867.	NM_004369.4(COL6A3):c.1948G>T (p.Val650Phe) GRCh37: Chr2:238287828 GRCh38: Chr2:237379185	COL6A3	V444F, V650F, V243F	not provided, Bethlem myopathy 1	Uncertain significance (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220005268.	NM_001849.4(COL6A2):c.1969+7G>A GRCh37: Chr21:47545538 GRCh38: Chr21:46125624	COL6A2		Bethlem myopathy 1	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 219980669.	NM_001849.4(COL6A2):c.662C>T (p.Pro221Leu) GRCh37: Chr21:47532439 GRCh38: Chr21:46112525	COL6A2	P221L	Bethlem myopathy 1	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 219968070.	NM_004369.4(COL6A3):c.3679+5G>A GRCh37: Chr2:238283050 GRCh38: Chr2:237374407	COL6A3		Bethlem myopathy 1	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 219952071.	NM_001848.3(COL6A1):c.225C>G (p.Asp75Glu) GRCh37: Chr21:47402675 GRCh38: Chr21:45982761	COL6A1	D75E	Bethlem myopathy 1	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 219901372.	NM_001848.3(COL6A1):c.2586G>A (p.Ala862=) GRCh37: Chr21:47423426 GRCh38: Chr21:46003512	COL6A1		Bethlem myopathy 1	Benign (Jul 18, 2022)	criteria provided, single submitter
Select item 219862373.	NM_004369.4(COL6A3):c.7093-18C>T GRCh37: Chr2:238253874 GRCh38: Chr2:237345231	COL6A3		Bethlem myopathy 1	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 219858174.	NM_004369.4(COL6A3):c.7162C>T (p.Pro2388Ser) GRCh37: Chr2:238253701 GRCh38: Chr2:237345058	COL6A3	P2221S, P1781S, P2182S, P2388S, P2188S	Bethlem myopathy 1	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 219846575.	NM_001849.4(COL6A2):c.2928G>A (p.Leu976=) GRCh37: Chr21:47552334 GRCh38: Chr21:46132420	COL6A2		Bethlem myopathy 1	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 219834476.	NM_004369.4(COL6A3):c.1104A>C (p.Ala368=) GRCh37: Chr2:238296433 GRCh38: Chr2:237387790	COL6A3		Bethlem myopathy 1	Likely benign (Feb 27, 2022)	criteria provided, single submitter
Select item 219815977.	NM_004369.4(COL6A3):c.3051C>G (p.His1017Gln) GRCh37: Chr2:238285434 GRCh38: Chr2:237376791	COL6A3	H410Q, H610Q, H1017Q, H811Q	Bethlem myopathy 1	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 219742578.	NM_004369.4(COL6A3):c.5733C>T (p.Leu1911=) GRCh37: Chr2:238274446 GRCh38: Chr2:237365803	COL6A3		Bethlem myopathy 1	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 219728879.	NM_004369.4(COL6A3):c.4089C>T (p.Gly1363=) GRCh37: Chr2:238280571 GRCh38: Chr2:237371928	COL6A3		Bethlem myopathy 1	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 219721480.	NM_001849.4(COL6A2):c.2873A>C (p.His958Pro) GRCh37: Chr21:47552279 GRCh38: Chr21:46132365	COL6A2	H958P	Bethlem myopathy 1	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 219695981.	NM_004369.4(COL6A3):c.1119C>T (p.Ser373=) GRCh37: Chr2:238296418 GRCh38: Chr2:237387775	COL6A3		Bethlem myopathy 1	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 219694882.	NM_004369.4(COL6A3):c.3648G>A (p.Leu1216=) GRCh37: Chr2:238283086 GRCh38: Chr2:237374443	COL6A3		Bethlem myopathy 1	Benign (Aug 29, 2022)	criteria provided, single submitter
Select item 219682383.	NM_001849.4(COL6A2):c.1770+13T>C GRCh37: Chr21:47544847 GRCh38: Chr21:46124933	COL6A2		Bethlem myopathy 1	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 219661384.	NM_004369.4(COL6A3):c.6697GCTGGTCCT[3] (p.Pro2238_Pro2239insAlaGlyPro) GRCh37: Chr2:238261203-238261204 GRCh38: Chr2:237352560-237352561	COL6A3		Bethlem myopathy 1	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 219634585.	NM_001848.3(COL6A1):c.644C>T (p.Ala215Val) GRCh37: Chr21:47406913 GRCh38: Chr21:45986999	COL6A1	A215V	Bethlem myopathy 1	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 219621586.	NM_001849.4(COL6A2):c.2423-12C>T GRCh37: Chr21:47546405 GRCh38: Chr21:46126491	COL6A2		Bethlem myopathy 1	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 219619987.	NM_004369.4(COL6A3):c.1922T>C (p.Ile641Thr) GRCh37: Chr2:238287854 GRCh38: Chr2:237379211	COL6A3	I234T, I435T, I641T	Bethlem myopathy 1	Uncertain significance (Jan 20, 2022)	criteria provided, single submitter
Select item 219610688.	NM_004369.4(COL6A3):c.8736G>A (p.Pro2912=) GRCh37: Chr2:238245007 GRCh38: Chr2:237336364	COL6A3		Bethlem myopathy 1	Likely benign (Jun 9, 2020)	criteria provided, single submitter
Select item 219610089.	NM_004369.4(COL6A3):c.3354C>T (p.Asn1118=) GRCh37: Chr2:238283380 GRCh38: Chr2:237374737	COL6A3		Bethlem myopathy 1	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 219531190.	NM_001848.3(COL6A1):c.603C>T (p.Ser201=) GRCh37: Chr21:47406872 GRCh38: Chr21:45986958	COL6A1		Bethlem myopathy 1	Likely benign (Dec 31, 2021)	criteria provided, single submitter
Select item 219466791.	NM_004369.4(COL6A3):c.6408+17G>A GRCh37: Chr2:238267661 GRCh38: Chr2:237359018	COL6A3		Bethlem myopathy 1	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 219459292.	NM_004369.4(COL6A3):c.3261C>T (p.Asn1087=) GRCh37: Chr2:238283473 GRCh38: Chr2:237374830	COL6A3		Bethlem myopathy 1	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 219449993.	NM_004369.4(COL6A3):c.6915A>G (p.Gly2305=) GRCh37: Chr2:238257271 GRCh38: Chr2:237348628	COL6A3		Bethlem myopathy 1	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 219353994.	NM_004369.4(COL6A3):c.7175-6C>T GRCh37: Chr2:238253492 GRCh38: Chr2:237344849	COL6A3		Bethlem myopathy 1	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 219334495.	NM_001848.3(COL6A1):c.2169C>T (p.Ile723=) GRCh37: Chr21:47422234 GRCh38: Chr21:46002320	COL6A1		Bethlem myopathy 1	Benign (Jul 22, 2022)	criteria provided, single submitter
Select item 219249996.	NM_001849.4(COL6A2):c.1116+6T>G GRCh37: Chr21:47537856 GRCh38: Chr21:46117942	COL6A2		Bethlem myopathy 1	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 219194497.	NM_004369.4(COL6A3):c.1631G>T (p.Arg544Leu) GRCh37: Chr2:238289824 GRCh38: Chr2:237381181	COL6A3	R338L, R544L, R137L	Bethlem myopathy 1	Benign (Oct 9, 2022)	criteria provided, single submitter
Select item 219190898.	NM_001849.4(COL6A2):c.1609-19C>T GRCh37: Chr21:47542770 GRCh38: Chr21:46122856	COL6A2		Bethlem myopathy 1	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 219158299.	NM_004369.4(COL6A3):c.5156C>T (p.Thr1719Ile) GRCh37: Chr2:238275674 GRCh38: Chr2:237367031	COL6A3	T1519I, T1719I, T1112I, T1513I, T1552I	Bethlem myopathy 1	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 2191568100.	NM_004369.4(COL6A3):c.9441A>G (p.Gly3147=) GRCh37: Chr2:238234255 GRCh38: Chr2:237325612	COL6A3, LOC126806573		Bethlem myopathy 1	Likely benign (Aug 6, 2020)	criteria provided, single submitter

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