ClinVar for MedGen (Select 98046) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25784561.	NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp) GRCh37: Chr2:238269816 GRCh38: Chr2:237361173	COL6A3	G1446D, G1847D, G1853D, G1886D, G2053D	Ullrich congenital muscular dystrophy 1	Likely pathogenic	no assertion criteria provided
Select item 25722012.	NM_001849.4(COL6A2):c.1021C>A (p.Pro341Thr) GRCh37: Chr21:47537335 GRCh38: Chr21:46117421	COL6A2	P341T	Ullrich congenital muscular dystrophy 1	Likely pathogenic (May 9, 2023)	criteria provided, single submitter
Select item 25720263.	NM_001849.4(COL6A2):c.2512C>G (p.Leu838Val) GRCh37: Chr21:47551918 GRCh38: Chr21:46132004	COL6A2	L838V	Ullrich congenital muscular dystrophy 1	Uncertain significance (Jul 12, 2023)	criteria provided, single submitter
Select item 25007154.	NM_004369.4(COL6A3):c.4532G>C (p.Gly1511Ala) GRCh37: Chr2:238277574 GRCh38: Chr2:237368931	COL6A3	G1305A, G1311A, G1511A, G904A	Ullrich congenital muscular dystrophy 1	Uncertain significance	criteria provided, single submitter
Select item 24441745.	NM_001848.3(COL6A1):c.234C>A (p.Tyr78Ter) GRCh37: Chr21:47404189 GRCh38: Chr21:45984275	COL6A1	Y78*	Ullrich congenital muscular dystrophy 1	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24417056.	NM_004369.4(COL6A3):c.6460C>T (p.Arg2154Ter) GRCh37: Chr2:238267175 GRCh38: Chr2:237358532	COL6A3	R1547, R1948, R1954, R1987, R2154*	Ullrich congenital muscular dystrophy 1	Pathogenic (Aug 18, 2022)	criteria provided, single submitter
Select item 24416477.	NM_004369.4(COL6A3):c.9175del (p.Val3059fs) GRCh37: Chr2:238243323 GRCh38: Chr2:237334680	COL6A3	V2452fs, V2853fs, V3059fs	Ullrich congenital muscular dystrophy 1	Likely pathogenic (Aug 18, 2022)	criteria provided, single submitter
Select item 17045448.	NM_004369.4(COL6A3):c.6424C>T (p.Arg2142Ter) GRCh37: Chr2:238267211 GRCh38: Chr2:237358568	COL6A3	R1942, R1975, R1535, R2142, R1936*	Ullrich congenital muscular dystrophy 1	Likely pathogenic (Jul 18, 2022)	criteria provided, single submitter
Select item 16944689.	NM_001849.4(COL6A2):c.101_104del (p.Asn34fs) GRCh37: Chr21:47531489-47531492 GRCh38: Chr21:46111575-46111578	COL6A2	N34fs	Ullrich congenital muscular dystrophy 1, Bethlem myopathy 1, Myosclerosis	Pathogenic	criteria provided, single submitter
Select item 169131610.	NM_001849.4(COL6A2):c.955-2A>C GRCh37: Chr21:47536682 GRCh38: Chr21:46116768	COL6A2		Ullrich congenital muscular dystrophy 1, Bethlem myopathy 1	Pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 169128311.	NM_004369.4(COL6A3):c.6283-2A>G GRCh37: Chr2:238268033 GRCh38: Chr2:237359390	COL6A3, LOC122889011		Ullrich congenital muscular dystrophy 1, Bethlem myopathy 1	Pathogenic (Jan 13, 2022)	criteria provided, single submitter
Select item 168361912.	NM_004369.4(COL6A3):c.1422G>T (p.Arg474Ser) GRCh37: Chr2:238290033 GRCh38: Chr2:237381390	COL6A3	R268S, R474S, R67S	Ullrich congenital muscular dystrophy 1	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 167982613.	NM_004369.4(COL6A3):c.8074del (p.Tyr2692fs) GRCh37: Chr2:238249485 GRCh38: Chr2:237340842	COL6A3	Y2085fs, Y2486fs, Y2692fs	Ullrich congenital muscular dystrophy 1	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 167982514.	NM_001849.4(COL6A2):c.955-3C>G GRCh37: Chr21:47536681 GRCh38: Chr21:46116767	COL6A2		Ullrich congenital muscular dystrophy 1	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 167930815.	NM_004369.4(COL6A3):c.8481del (p.Leu2828fs) GRCh37: Chr2:238247744 GRCh38: Chr2:237339101	COL6A3	L2221fs, L2622fs, L2828fs	Ullrich congenital muscular dystrophy 1	Pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 157956716.	NM_001848.3(COL6A1):c.3007C>T (p.Leu1003=) GRCh37: Chr21:47423847 GRCh38: Chr21:46003933	COL6A1		Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1, Bethlem myopathy 1	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139145017.	NM_001848.3(COL6A1):c.181A>G (p.Lys61Glu) GRCh37: Chr21:47402631 GRCh38: Chr21:45982717	COL6A1	K61E	Bethlem myopathy 1	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 136771418.	NM_004369.4(COL6A3):c.911A>G (p.Gln304Arg) GRCh37: Chr2:238296626 GRCh38: Chr2:237387983	COL6A3	Q304R, Q98R	Ullrich congenital muscular dystrophy 1, Dystonia 27, Bethlem myopathy 1, Bethlem myopathy 1	Uncertain significance (Dec 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133987319.	NM_004369.4(COL6A3):c.5731C>T (p.Leu1911Phe) GRCh37: Chr2:238274448 GRCh38: Chr2:237365805	COL6A3	L1304F, L1705F, L1911F	Bethlem myopathy 1	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 133917720.	NM_001849.4(COL6A2):c.2519G>A (p.Gly840Asp) GRCh37: Chr21:47551925 GRCh38: Chr21:46132011	COL6A2	G840D	Ullrich congenital muscular dystrophy 1	Uncertain significance	criteria provided, single submitter
Select item 133368421.	NM_001848.3(COL6A1):c.1813+2_1813+3del GRCh37: Chr21:47420281-47420282 GRCh38: Chr21:46000367-46000368	COL6A1		Ullrich congenital muscular dystrophy 1	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 129955222.	NM_001848.3(COL6A1):c.2460C>A (p.Cys820Ter) GRCh37: Chr21:47423059 GRCh38: Chr21:46003145	COL6A1	C820*	Ullrich congenital muscular dystrophy 1	Pathogenic (Aug 10, 2021)	criteria provided, single submitter
Select item 128556023.	NM_001849.4(COL6A2):c.982G>A (p.Gly328Arg) GRCh37: Chr21:47536711 GRCh38: Chr21:46116797	COL6A2	G328R	Ullrich congenital muscular dystrophy 1	Likely pathogenic (Mar 29, 2021)	criteria provided, single submitter
Select item 118457224.	NM_001849.4(COL6A2):c.-27-3C>G GRCh37: Chr21:47531361 GRCh38: Chr21:46111447	COL6A2		Ullrich congenital muscular dystrophy 1	Likely pathogenic	no assertion criteria provided
Select item 106544825.	NM_001849.4(COL6A2):c.111C>A (p.Cys37Ter) GRCh37: Chr21:47531501 GRCh38: Chr21:46111587	COL6A2	C37*	Ullrich congenital muscular dystrophy 1	Likely pathogenic (May 16, 2019)	criteria provided, single submitter
Select item 103277426.	NM_001848.3(COL6A1):c.79A>T (p.Arg27Trp) GRCh37: Chr21:47401843 GRCh38: Chr21:45981929	COL6A1	R27W	Ullrich congenital muscular dystrophy 1	Uncertain significance (Mar 20, 2018)	criteria provided, single submitter
Select item 102938327.	NM_001849.4(COL6A2):c.2462-2666C>T GRCh37: Chr21:47549202 GRCh38: Chr21:46129288	COL6A2	Q852*	Ullrich congenital muscular dystrophy 1	Pathogenic (Dec 6, 2019)	criteria provided, single submitter
Select item 102873928.	NM_004369.4(COL6A3):c.4514G>T (p.Arg1505Leu) GRCh37: Chr2:238277592 GRCh38: Chr2:237368949	COL6A3	R1299L, R1505L, R898L	Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1	Uncertain significance (Nov 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102797029.	NM_001848.3(COL6A1):c.3052C>T (p.His1018Tyr) GRCh37: Chr21:47423892 GRCh38: Chr21:46003978	COL6A1	H1018Y	Ullrich congenital muscular dystrophy 1	Uncertain significance (Aug 8, 2019)	criteria provided, single submitter
Select item 102796930.	NM_001848.3(COL6A1):c.2024G>C (p.Ser675Thr) GRCh37: Chr21:47421942 GRCh38: Chr21:46002028	COL6A1	S675T	Ullrich congenital muscular dystrophy 1	Uncertain significance (Feb 5, 2020)	criteria provided, single submitter
Select item 100530431.	NM_004370.6(COL12A1):c.1456C>T (p.Arg486Trp) GRCh37: Chr6:75893201 GRCh38: Chr6:75183485	COL12A1	R486W	Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 100432032.	NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val) GRCh37: Chr2:238296269 GRCh38: Chr2:237387626	COL6A3	A217V, A423V	Dystonia 27, Ullrich congenital muscular dystrophy 1, Bethlem myopathy 1, Inborn genetic diseases, not provided, Bethlem myopathy 1	Conflicting interpretations of pathogenicity (Jul 8, 2022)	criteria provided, conflicting interpretations
Select item 97637533.	NM_001849.4(COL6A2):c.928-2A>G GRCh37: Chr21:47536563 GRCh38: Chr21:46116649	COL6A2		Ullrich congenital muscular dystrophy 1	Likely pathogenic (Feb 28, 2018)	criteria provided, single submitter
Select item 97304034.	NM_001849.4(COL6A2):c.1264G>A (p.Glu422Lys) GRCh37: Chr21:47539028 GRCh38: Chr21:46119114	COL6A2	E422K	Bethlem myopathy 1, not provided	Conflicting interpretations of pathogenicity (May 5, 2022)	criteria provided, conflicting interpretations
Select item 94990535.	NM_004370.6(COL12A1):c.8319+1G>C GRCh37: Chr6:75813472 GRCh38: Chr6:75103756	COL12A1		Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2	Likely pathogenic (Aug 8, 2020)	criteria provided, single submitter
Select item 94332236.	NM_001849.4(COL6A2):c.2305_2306del (p.Glu768_Ser769insTer) GRCh37: Chr21:47546031-47546032 GRCh38: Chr21:46126117-46126118	COL6A2		Ullrich congenital muscular dystrophy 1, Bethlem myopathy 1	Pathogenic (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93271337.	NM_004369.4(COL6A3):c.5276C>G (p.Ala1759Gly) GRCh37: Chr2:238275554 GRCh38: Chr2:237366911	COL6A3	A1152G, A1553G, A1759G	Ullrich congenital muscular dystrophy 1, not provided, Bethlem myopathy 1	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 93181738.	NM_004369.4(COL6A3):c.3685G>A (p.Gly1229Ser) GRCh37: Chr2:238280975 GRCh38: Chr2:237372332	COL6A3	G1023S, G622S, G1229S, G822S	Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1	Uncertain significance (Feb 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93180139.	NM_004369.4(COL6A3):c.4070T>G (p.Val1357Gly) GRCh37: Chr2:238280590 GRCh38: Chr2:237371947	COL6A3	V1151G, V750G, V1357G, V950G	Ullrich congenital muscular dystrophy 1	Uncertain significance (Oct 8, 2018)	criteria provided, single submitter
Select item 93087340.	NM_001848.3(COL6A1):c.717+1G>A GRCh37: Chr21:47406987 GRCh38: Chr21:45987073	COL6A1		Ullrich congenital muscular dystrophy 1	Uncertain significance (Mar 9, 2020)	criteria provided, single submitter
Select item 93076641.	NM_004369.4(COL6A3):c.269A>T (p.Glu90Val) GRCh37: Chr2:238303670 GRCh38: Chr2:237395027	COL6A3	E90V	Ullrich congenital muscular dystrophy 1	Uncertain significance (Aug 21, 2019)	criteria provided, single submitter
Select item 84425442.	NM_001849.4(COL6A2):c.1070C>T (p.Pro357Leu) GRCh37: Chr21:47537804 GRCh38: Chr21:46117890	COL6A2	P357L	Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1, Myosclerosis, Bethlem myopathy 1	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84381843.	NM_001848.3(COL6A1):c.475G>A (p.Gly159Arg) GRCh37: Chr21:47406486 GRCh38: Chr21:45986572	COL6A1	G159R	Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1	Conflicting interpretations of pathogenicity (Aug 31, 2021)	criteria provided, conflicting interpretations
Select item 74410944.	NM_001849.4(COL6A2):c.201C>T (p.Leu67=) GRCh37: Chr21:47531978 GRCh38: Chr21:46112064	COL6A2		Ullrich congenital muscular dystrophy 1, Bethlem myopathy 1	Conflicting interpretations of pathogenicity (Aug 10, 2022)	criteria provided, conflicting interpretations
Select item 66554845.	NM_004369.4(COL6A3):c.3790G>A (p.Val1264Met) GRCh37: Chr2:238280870 GRCh38: Chr2:237372227	COL6A3	V657M, V1058M, V1264M, V857M	Bethlem myopathy 1	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 65758146.	NM_001849.4(COL6A2):c.2977C>T (p.Arg993Cys) GRCh37: Chr21:47552383 GRCh38: Chr21:46132469	COL6A2	R993C	Bethlem myopathy 1, not provided	Conflicting interpretations of pathogenicity (Feb 10, 2022)	criteria provided, conflicting interpretations
Select item 65715647.	NM_001848.3(COL6A1):c.887G>T (p.Gly296Val) GRCh37: Chr21:47409550 GRCh38: Chr21:45989636	COL6A1	G296V	Ullrich congenital muscular dystrophy 1, Bethlem myopathy 1	Pathogenic/Likely pathogenic (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64966348.	NM_001848.3(COL6A1):c.2518G>A (p.Val840Met) GRCh37: Chr21:47423358 GRCh38: Chr21:46003444	COL6A1	V840M	Bethlem myopathy 1, not provided, Ullrich congenital muscular dystrophy 1	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 64807649.	NM_001848.3(COL6A1):c.1575+1G>A GRCh37: Chr21:47418086 GRCh38: Chr21:45998172	COL6A1		not provided, Bethlem myopathy 1, Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1	Likely pathogenic (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63844450.	NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys) GRCh37: Chr6:75898963 GRCh38: Chr6:75189247	COL12A1	R265C	Ullrich congenital muscular dystrophy, Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63508151.	NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter) GRCh37: Chr2:238272009 GRCh38: Chr2:237363366	COL6A3	R1984, R1778, R1377*	Bethlem myopathy 1, not provided, Ullrich congenital muscular dystrophy 1	Pathogenic/Likely pathogenic (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63508052.	NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp) GRCh37: Chr2:238253331 GRCh38: Chr2:237344688	COL6A3	R2444W, R2238W, R1837W	Ullrich congenital muscular dystrophy 1, Bethlem myopathy 1	Uncertain significance (Sep 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63501953.	NM_001848.3(COL6A1):c.904-39A>G GRCh37: Chr21:47409627 GRCh38: Chr21:45989713	COL6A1		Ullrich congenital muscular dystrophy 1, Bethlem myopathy 1	Pathogenic/Likely pathogenic (Sep 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63446754.	NM_001849.4(COL6A2):c.2069C>G (p.Ala690Gly) GRCh37: Chr21:47545798 GRCh38: Chr21:46125884	COL6A2	A690G	Ullrich congenital muscular dystrophy 1	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 63258255.	NM_001849.4(COL6A2):c.2875G>A (p.Glu959Lys) GRCh37: Chr21:47552281 GRCh38: Chr21:46132367	COL6A2	E959K	Bethlem myopathy 1	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 62312756.	NM_001848.3(COL6A1):c.787G>T (p.Gly263Cys) GRCh37: Chr21:47407551 GRCh38: Chr21:45987637	COL6A1	G263C	Ullrich congenital muscular dystrophy 1	Likely pathogenic (Apr 10, 2018)	criteria provided, single submitter
Select item 61756757.	NM_001848.3(COL6A1):c.1483C>T (p.Pro495Ser) GRCh37: Chr21:47417635 GRCh38: Chr21:45997721	COL6A1	P495S	Ullrich congenital muscular dystrophy 1	Likely pathogenic (Oct 8, 2018)	criteria provided, single submitter
Select item 59543458.	NM_001848.3(COL6A1):c.1641_1642del (p.Asp548fs) GRCh37: Chr21:47418837-47418838 GRCh38: Chr21:45998923-45998924	COL6A1	D548fs	not provided, Ullrich congenital muscular dystrophy 1	Pathogenic (Dec 19, 2017)	criteria provided, multiple submitters, no conflicts
Select item 56903659.	NM_001849.4(COL6A2):c.1111G>A (p.Gly371Ser) GRCh37: Chr21:47537845 GRCh38: Chr21:46117931	COL6A2	G371S	Ullrich congenital muscular dystrophy 1, Bethlem myopathy 1, not provided	Conflicting interpretations of pathogenicity (Dec 17, 2022)	criteria provided, conflicting interpretations
Select item 54859660.	NM_004369.4(COL6A3):c.2236C>A (p.Leu746Ile) GRCh37: Chr2:238287540 GRCh38: Chr2:237378897	COL6A3	L746I, L339I, L540I	Ullrich congenital muscular dystrophy 1, Dystonia 27, Bethlem myopathy 1	Uncertain significance (Mar 5, 2018)	criteria provided, single submitter
Select item 54848761.	NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val) GRCh37: Chr6:75890711 GRCh38: Chr6:75180995	COL12A1	A703V	Ullrich congenital muscular dystrophy, Bethlem myopathy 2, not provided, Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2	Conflicting interpretations of pathogenicity (May 31, 2022)	criteria provided, conflicting interpretations
Select item 54302562.	NM_001848.3(COL6A1):c.1002+6_1002+88del GRCh37: Chr21:47410322-47410404 GRCh38: Chr21:45990408-45990490	COL6A1		Bethlem myopathy 1	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 54299863.	NM_001848.3(COL6A1):c.930+189C>T GRCh37: Chr21:47409881 GRCh38: Chr21:45989967	COL6A1		Ullrich congenital muscular dystrophy 1, Bethlem myopathy 1, not provided	Pathogenic (May 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 52273964.	NM_004370.6(COL12A1):c.1760T>C (p.Ile587Thr) GRCh37: Chr6:75892897 GRCh38: Chr6:75183181	COL12A1	I587T	Ullrich congenital muscular dystrophy	Uncertain significance (Dec 3, 2017)	criteria provided, single submitter
Select item 50257965.	NM_001848.3(COL6A1):c.1741-6G>A GRCh37: Chr21:47419565 GRCh38: Chr21:45999651	COL6A1		Ullrich congenital muscular dystrophy 1, Bethlem myopathy 1, not provided	Conflicting interpretations of pathogenicity (Feb 9, 2023)	criteria provided, conflicting interpretations
Select item 50208666.	NM_001849.4(COL6A2):c.3029T>G (p.Phe1010Cys) GRCh37: Chr21:47552435 GRCh38: Chr21:46132521	COL6A2	F1010C	not provided, Bethlem myopathy 1, Myosclerosis, Ullrich congenital muscular dystrophy 1, Bethlem myopathy 1, Collagen 6-related myopathy, Myosclerosis	Uncertain significance (Jun 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 49904567.	NM_004369.4(COL6A3):c.6408G>C (p.Arg2136Ser) GRCh37: Chr2:238267678 GRCh38: Chr2:237359035	COL6A3	R2136S, R1930S, R1529S	Ullrich congenital muscular dystrophy 1, not provided, Bethlem myopathy 1	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49723368.	NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter) GRCh37: Chr21:47542795 GRCh38: Chr21:46122881	COL6A2	R539*	not provided, Ullrich congenital muscular dystrophy 1, Bethlem myopathy 1	Pathogenic/Likely pathogenic (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 47652369.	NM_004369.4(COL6A3):c.4309A>T (p.Ile1437Phe) GRCh37: Chr2:238277797 GRCh38: Chr2:237369154	COL6A3	I1437F, I1231F, I830F	Bethlem myopathy 1, Bethlem myopathy 1, Dystonia 27, Ullrich congenital muscular dystrophy 1, not provided	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 47648070.	NM_001849.4(COL6A2):c.2927T>C (p.Leu976Ser) GRCh37: Chr21:47552333 GRCh38: Chr21:46132419	COL6A2	L976S	Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1, not provided, Bethlem myopathy 1	Conflicting interpretations of pathogenicity (Oct 6, 2022)	criteria provided, conflicting interpretations
Select item 47645271.	NM_001849.4(COL6A2):c.1459-2A>G GRCh37: Chr21:47541468 GRCh38: Chr21:46121554	COL6A2		Bethlem myopathy 1	Pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 47643472.	NM_001848.3(COL6A1):c.2911G>A (p.Val971Met) GRCh37: Chr21:47423751 GRCh38: Chr21:46003837	COL6A1	V971M	not provided, Ullrich congenital muscular dystrophy 1, Bethlem myopathy 1	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 44978573.	NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn) GRCh37: Chr2:238283514 GRCh38: Chr2:237374871	COL6A3	D1074N, D467N, D667N, D868N	Inborn genetic diseases, not provided, Dystonia 27, Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1	Conflicting interpretations of pathogenicity (May 23, 2023)	criteria provided, conflicting interpretations
Select item 44932574.	NM_004369.4(COL6A3):c.6309+3A>G GRCh37: Chr2:238268002 GRCh38: Chr2:237359359	LOC122889011, COL6A3		not provided, Ullrich congenital muscular dystrophy 1	Pathogenic/Likely pathogenic (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41944975.	NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter) GRCh37: Chr2:238285979 GRCh38: Chr2:237377336	COL6A3	R836, R229, R429, R630	not provided, Bethlem myopathy 1, Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1, Dystonia 27	Pathogenic/Likely pathogenic (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41788876.	NM_004369.4(COL6A3):c.7669-2del GRCh37: Chr2:238250806 GRCh38: Chr2:237342163	COL6A3		Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1, Dystonia 27	Likely pathogenic (Feb 10, 2016)	no assertion criteria provided
Select item 38584377.	NM_004369.4(COL6A3):c.6592-16A>T GRCh37: Chr2:238263593 GRCh38: Chr2:237354950	COL6A3		Bethlem myopathy 1, Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1, Dystonia 27, not specified	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37414378.	NM_001849.4(COL6A2):c.736-2A>G GRCh37: Chr21:47533920 GRCh38: Chr21:46114006	COL6A2		not provided, Ullrich congenital muscular dystrophy 1, Limb-girdle muscle weakness, Hyperextensible hand joints, Muscular dystrophy, Fatigue	Pathogenic/Likely pathogenic (Oct 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33511679.	NM_004369.4(COL6A3):c.5833G>A (p.Val1945Met) GRCh37: Chr2:238274346 GRCh38: Chr2:237365703	COL6A3	V1945M, V1338M, V1739M	not provided, Collagen 6-related myopathy, Ullrich congenital muscular dystrophy 1, Bethlem myopathy 1	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 28993780.	NM_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp) GRCh37: Chr2:238283511 GRCh38: Chr2:237374868	COL6A3	R1075W, R468W, R869W, R668W	Dystonia 27, Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1, not provided, Collagen 6-related myopathy, Bethlem myopathy 1	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 28964681.	NM_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu) GRCh37: Chr2:238274354 GRCh38: Chr2:237365711	COL6A3	P1942L, P1335L, P1736L	Dystonia 27, Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1, not provided, Bethlem myopathy 1	Conflicting interpretations of pathogenicity (Apr 25, 2023)	criteria provided, conflicting interpretations
Select item 28894482.	NM_004369.4(COL6A3):c.8236G>A (p.Glu2746Lys) GRCh37: Chr2:238249323 GRCh38: Chr2:237340680	COL6A3	E2746K, E2139K, E2540K	not provided, Bethlem myopathy 1, Dystonia 27, Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 28868683.	NM_004369.4(COL6A3):c.709+8C>T GRCh37: Chr2:238303222 GRCh38: Chr2:237394579	COL6A3		Bethlem myopathy 1, Dystonia 27, Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1, not provided	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 28858684.	NM_001849.4(COL6A2):c.2251G>A (p.Asp751Asn) GRCh37: Chr21:47545980 GRCh38: Chr21:46126066	COL6A2	D751N	Bethlem myopathy 1, Myosclerosis, Ullrich congenital muscular dystrophy 1, not provided, Bethlem myopathy 1	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 28856785.	NM_001849.4(COL6A2):c.2623G>A (p.Ala875Thr) GRCh37: Chr21:47552029 GRCh38: Chr21:46132115	COL6A2	A875T	Inborn genetic diseases, not provided, Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1	Conflicting interpretations of pathogenicity (Nov 30, 2022)	criteria provided, conflicting interpretations
Select item 28850386.	NM_004369.4(COL6A3):c.6309+1G>T GRCh37: Chr2:238268004 GRCh38: Chr2:237359361	COL6A3, LOC122889011		Ullrich congenital muscular dystrophy 1, not provided, Bethlem myopathy 1	Pathogenic/Likely pathogenic (Jan 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28841987.	NM_004369.4(COL6A3):c.3055G>A (p.Gly1019Arg) GRCh37: Chr2:238285430 GRCh38: Chr2:237376787	COL6A3	G1019R, G412R, G813R, G612R	not provided, Bethlem myopathy 1, Dystonia 27, Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1	Conflicting interpretations of pathogenicity (Oct 18, 2022)	criteria provided, conflicting interpretations
Select item 28599788.	NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu) GRCh37: Chr21:47422212 GRCh38: Chr21:46002298	COL6A1	P716L	Ullrich congenital muscular dystrophy 1, Bethlem myopathy 1, Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Aug 30, 2022)	criteria provided, conflicting interpretations
Select item 28574889.	NM_004369.4(COL6A3):c.6354+1G>A GRCh37: Chr2:238267848 GRCh38: Chr2:237359205	COL6A3		not provided, Inborn genetic diseases, Bethlem myopathy 1	Pathogenic/Likely pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 28571890.	NM_001849.4(COL6A2):c.2785G>A (p.Val929Met) GRCh37: Chr21:47552191 GRCh38: Chr21:46132277	COL6A2	V929M	not provided, Collagen 6-related myopathy, Ullrich congenital muscular dystrophy 1, Bethlem myopathy 1	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 28559491.	NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile) GRCh37: Chr2:238283616 GRCh38: Chr2:237374973	COL6A3	V1040I, V433I, V633I, V834I	Bethlem myopathy 1, Collagen 6-related myopathy, not provided	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations
Select item 28548292.	NM_001848.3(COL6A1):c.928_930del (p.Lys310del) GRCh37: Chr21:47409688-47409690 GRCh38: Chr21:45989774-45989776	COL6A1	K310del	Ullrich congenital muscular dystrophy 1, not provided, Bethlem myopathy 1	Pathogenic/Likely pathogenic (May 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28496693.	NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe) GRCh37: Chr2:238283235 GRCh38: Chr2:237374592	COL6A3	I1167F, I760F, I961F, I560F	not provided, Bethlem myopathy 1, Dystonia 27, Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1	Conflicting interpretations of pathogenicity (Apr 18, 2022)	criteria provided, conflicting interpretations
Select item 28469394.	NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg) GRCh37: Chr21:47545926 GRCh38: Chr21:46126012	COL6A2	G733R	Inborn genetic diseases, Bethlem myopathy 1, not provided	Conflicting interpretations of pathogenicity (Jan 5, 2023)	criteria provided, conflicting interpretations
Select item 28455495.	NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys) GRCh37: Chr2:238269775 GRCh38: Chr2:237361132	COL6A3	E2067K, E1460K, E1861K	not provided, Ullrich congenital muscular dystrophy 1, Bethlem myopathy 1	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 28412696.	NM_004369.4(COL6A3):c.8966-3C>A GRCh37: Chr2:238243535 GRCh38: Chr2:237334892	COL6A3		not provided, Ullrich congenital muscular dystrophy 1, Bethlem myopathy 1	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28412197.	NM_004369.4(COL6A3):c.3199G>A (p.Val1067Met) GRCh37: Chr2:238283535 GRCh38: Chr2:237374892	COL6A3	V1067M, V660M, V460M, V861M	Ullrich congenital muscular dystrophy 1, Bethlem myopathy 1, not provided	Conflicting interpretations of pathogenicity (Aug 15, 2022)	criteria provided, conflicting interpretations
Select item 28247598.	NM_001849.4(COL6A2):c.169G>A (p.Val57Ile) GRCh37: Chr21:47531946 GRCh38: Chr21:46112032	COL6A2	V57I	Bethlem myopathy 1, Myosclerosis, Ullrich congenital muscular dystrophy 1, not provided, Bethlem myopathy 1	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 28244599.	NM_004369.4(COL6A3):c.958G>A (p.Ala320Thr) GRCh37: Chr2:238296579 GRCh38: Chr2:237387936	COL6A3	A320T, A114T	not specified, Bethlem myopathy 1, Dystonia 27, Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1, Dystonia 27, Collagen 6-related myopathy	Conflicting interpretations of pathogenicity (Sep 24, 2022)	criteria provided, conflicting interpretations
Select item 282195100.	NM_004369.4(COL6A3):c.7607C>T (p.Ala2536Val) GRCh37: Chr2:238253054 GRCh38: Chr2:237344411	COL6A3	A2536V, A1929V, A2330V	Ullrich congenital muscular dystrophy 1, Collagen 6-related myopathy, not provided, Bethlem myopathy 1	Conflicting interpretations of pathogenicity (Oct 3, 2022)	criteria provided, conflicting interpretations

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