Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_213599.3(ANO5):c.1066T>C (p.Cys356Arg)	SNV Germline	Chr11:22250793	Pathogenic	Gnathodiaphyseal dysplasia Condition: not provided	No Assertion Criteria Provided	CA232776	rs_119103234	3 SubmittersRCV000002244 RCV000128765
NM_213599.3(ANO5):c.1066T>G (p.Cys356Gly)	SNV Germline	Chr11:22250793	Pathogenic	Gnathodiaphyseal dysplasia Condition: not provided	No Assertion Criteria Provided	CA232778	rs_119103234	3 SubmittersRCV000002245 RCV000128766
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly)	SNV Germline	Chr11:22255485	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA224408	rs_137854524	8 SubmittersRCV000002246 RCV000082843 RCV000762831 RCV001851575 RCV003234889
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)	SNV Germline	Chr11:22236206	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided ANO5-related disorder Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Miyoshi muscular dystrophy 3 Hereditary fructosuria Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA224418	rs_137854523	26 SubmittersRCV000002249 RCV000082853 RCV000369126 RCV000627782 RCV000762830 RCV000825558 RCV003993729 RCV003993730
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)	SNV Germline	Chr11:22274605	Pathogenic/Likely pathogenic	Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA130516	rs_137854529	20 SubmittersRCV000002250 RCV000032966 RCV000128778 RCV000811162
NM_213599.3(ANO5):c.1541C>T (p.Thr514Ile)	SNV Germline	Chr11:22259652	Pathogenic	Gnathodiaphyseal dysplasia	No Assertion Criteria Provided	CA144627	rs_397514736	1 SubmittersRCV000054502
NM_213599.3(ANO5):c.1746C>T (p.Phe582=)	SNV Germline	Chr11:22262244	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications		rs_267602823	2 SubmittersRCV000729825 RCV001458065
NM_213599.3(ANO5):c.1029C>T (p.Asp343=)	SNV Germline	Chr11:22250756	Conflicting classifications of pathogenicity	not specified Limb-girdle muscular dystrophy, recessive Miyoshi myopathy Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-Related Muscle Diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA149668	rs_78899595	8 SubmittersRCV000082842 RCV000319437 RCV000371764 RCV000526534 RCV001105484 RCV003736572
NM_213599.3(ANO5):c.242A>G (p.Asp81Gly)	SNV Germline	Chr11:22221158	Pathogenic/Likely pathogenic	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Multiple Submitters No Conflicts	CA224411	rs_199501657	4 SubmittersRCV000082846 RCV001377409
NM_213599.3(ANO5):c.364-8T>A	SNV Germline	Chr11:22227294	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications	CA224417	rs_398124624	2 SubmittersRCV000082850 RCV001480649
NM_213599.3(ANO5):c.41-1G>A	SNV Germline	Chr11:22203803	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Multiple Submitters No Conflicts	CA201762	rs_398124625	7 SubmittersRCV000082852 RCV000176019 RCV000645359
NM_213599.3(ANO5):c.2259A>G (p.Ser753=)	SNV Germline	Chr11:22274592	Conflicting classifications of pathogenicity	not specified Limb-girdle muscular dystrophy, recessive Miyoshi myopathy Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-Related Muscle Diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA151827	rs_61746201	6 SubmittersRCV000116353 RCV000350360 RCV000398827 RCV000527349 RCV001103648 RCV003736576
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)	SNV Germline	Chr11:22262231	Pathogenic/Likely pathogenic	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Abnormality of the musculature Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L Miyoshi muscular dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA232785	rs_137854526	12 SubmittersRCV000128774 RCV000405473 RCV001814063 RCV002288618 RCV002498636 RCV002464119
NM_213599.3(ANO5):c.2018A>G (p.Tyr673Cys)	SNV Germline	Chr11:22270431	Pathogenic	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Multiple Submitters No Conflicts	CA232789	rs_137854527	4 SubmittersRCV000128776 RCV000645348
NM_213599.3(ANO5):c.1800+5G>A	SNV Germline	Chr11:22262303	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-related disorder	Criteria Provided Conflicting Classifications	CA240799	rs_794727179	3 SubmittersRCV000175112 RCV001852139 RCV004539623
NM_213599.3(ANO5):c.1898+1G>A	SNV Germline	Chr11:22263044	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Multiple Submitters No Conflicts	CA201366	rs_142027093	13 SubmittersRCV000479758 RCV000627783 RCV000762832 RCV001270118
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser)	SNV Germline	Chr11:22272895	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Condition: not provided Gnathodiaphyseal dysplasia ANO5-Related Muscle Diseases Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications	CA241255	rs_200631556	10 SubmittersRCV000534324 RCV000710577 RCV000988506 RCV001108801 RCV002288780
NM_213599.3(ANO5):c.2521C>G (p.His841Asp)	SNV Germline	Chr11:22279544	Conflicting classifications of pathogenicity	Condition: not provided ANO5-related disorder Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA242241	rs_781027702	8 SubmittersRCV000176339 RCV000778321 RCV000791570 RCV001254725 RCV003330536
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu)	SNV Germline	Chr11:22279721	Conflicting classifications of pathogenicity	not specified Condition: not provided ANO5-Related Muscle Diseases Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Gnathodiaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA242244	rs_148293985	10 SubmittersRCV000176340 RCV000428732 RCV001105586 RCV001082354 RCV001333778
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)	SNV Germline	Chr11:22218279	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Miyoshi muscular dystrophy 3 Abnormality of the musculature Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA202865	rs_201725369	16 SubmittersRCV000178420 RCV000254777 RCV000684805 RCV001254062 RCV001814090 RCV002282002
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser)	SNV Germline	Chr11:22218262	Conflicting classifications of pathogenicity	not specified Condition: not provided Gnathodiaphyseal dysplasia Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-Related Muscle Diseases	Criteria Provided Conflicting Classifications	CA245507	rs_143777403	11 SubmittersRCV000178421 RCV000723959 RCV000988500 RCV001086326 RCV001108714
NM_213599.3(ANO5):c.294G>A (p.Ala98=)	SNV Germline	Chr11:22221210	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia ANO5-Related Muscle Diseases	Criteria Provided Conflicting Classifications	CA246289	rs_142858990	7 SubmittersRCV000724236 RCV001085524 RCV001103557
NM_213599.3(ANO5):c.762+1G>A	SNV Germline	Chr11:22236277	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Multiple Submitters No Conflicts	CA210044	rs_372221490	4 SubmittersRCV000201014 RCV000725769 RCV000823520
NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter)	SNV Germline	Chr11:22255400	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia ANO5-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA210078	rs_566415362	5 SubmittersRCV000201148 RCV000521518 RCV001853222 RCV004541281
NM_213599.3(ANO5):c.1227A>G (p.Glu409=)	SNV Germline	Chr11:22255417	Conflicting classifications of pathogenicity	not specified Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications	CA5923184	rs_781554633	2 SubmittersRCV000248073 RCV002518675
NM_213599.3(ANO5):c.2688C>G (p.Ala896=)	SNV Germline	Chr11:22279711	Conflicting classifications of pathogenicity	not specified Miyoshi myopathy Limb-girdle muscular dystrophy, recessive Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia ANO5-Related Muscle Diseases	Criteria Provided Conflicting Classifications	CA5923639	rs_377549896	5 SubmittersRCV000246923 RCV000303740 RCV000358513 RCV000725634 RCV001080760 RCV001103654
NM_213599.3(ANO5):c.279C>T (p.Asp93=)	SNV Germline	Chr11:22221195	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-related disorder	Criteria Provided Conflicting Classifications	CA5922853	rs_148516756	4 SubmittersRCV000274733 RCV001087722 RCV004542988
NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln)	SNV Germline	Chr11:22262138	Conflicting classifications of pathogenicity	Condition: not provided ANO5-related disorder Autosomal recessive limb-girdle muscular dystrophy type 2L Miyoshi muscular dystrophy 3 Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA5923316	rs_139618850	6 SubmittersRCV000322343 RCV000778318 RCV000758149 RCV000807697 RCV003323487
NM_213599.3(ANO5):c.680G>C (p.Gly227Ala)	SNV Germline	Chr11:22236194	Conflicting classifications of pathogenicity	not specified Condition: not provided Gnathodiaphyseal dysplasia Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-Related Muscle Diseases	Criteria Provided Conflicting Classifications	CA5922992	rs_140903276	7 SubmittersRCV000388640 RCV000710581 RCV000988503 RCV001079543 RCV001105479
NM_213599.3(ANO5):c.259G>A (p.Val87Ile)	SNV Germline	Chr11:22221175	Conflicting classifications of pathogenicity	not specified Condition: not provided Gnathodiaphyseal dysplasia ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications	CA5922846	rs_34994927	7 SubmittersRCV000296622 RCV000710578 RCV000988501 RCV001108716 RCV001086686
NM_213599.3(ANO5):c.2610A>G (p.Leu870=)	SNV Germline	Chr11:22279633	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications	CA5923627	rs_369103376	2 SubmittersRCV000365825 RCV001471076
NM_213599.3(ANO5):c.1548C>T (p.Leu516=)	SNV Germline	Chr11:22259659	Conflicting classifications of pathogenicity	Condition: not provided Miyoshi myopathy Limb-girdle muscular dystrophy, recessive ANO5-Related Muscle Diseases Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA10604491	rs_886042624	3 SubmittersRCV000297485 RCV000291597 RCV000344249 RCV001106645 RCV002521899
NM_213599.3(ANO5):c.720G>T (p.Leu240=)	SNV Germline	Chr11:22236234	Conflicting classifications of pathogenicity	Limb-girdle muscular dystrophy, recessive Miyoshi myopathy Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-Related Muscle Diseases	Criteria Provided Conflicting Classifications	CA5923000	rs_147121216	5 SubmittersRCV000276909 RCV000329671 RCV000710077 RCV001085068 RCV001105480
NM_213599.3(ANO5):c.1860G>A (p.Gly620=)	SNV Germline	Chr11:22263005	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications	CA10604639	rs_886042751	2 SubmittersRCV000328784 RCV001443918
NM_213599.3(ANO5):c.689A>G (p.Asp230Gly)	SNV Germline	Chr11:22236203	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications	CA5922994	rs_139259793	4 SubmittersRCV000369519 RCV000645360
NM_213599.3(ANO5):c.1497A>G (p.Ala499=)	SNV Germline	Chr11:22259608	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications	CA10604874	rs_886042923	2 SubmittersRCV000391587 RCV002059159
NM_213599.3(ANO5):c.295-7G>A	SNV Germline	Chr11:22225977	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications	CA5922875	rs_753416246	2 SubmittersRCV000384541 RCV001446742
NM_213599.3(ANO5):c.525C>G (p.Leu175=)	SNV Germline	Chr11:22227463	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications	CA5922940	rs_143331003	2 SubmittersRCV000403505 RCV001083835
NM_213599.3(ANO5):c.276A>G (p.Lys92=)	SNV Germline	Chr11:22221192	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA5922852	rs_201678262	3 SubmittersRCV000321766 RCV000725595 RCV002059168
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys)	SNV Germline	Chr11:22276177	Pathogenic/Likely pathogenic	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-related disorder Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Miyoshi muscular dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA5923597	rs_142073798	9 SubmittersRCV000347528 RCV000645350 RCV000778320 RCV001729506 RCV002502129
NM_213599.3(ANO5):c.369G>A (p.Ser123=)	SNV Germline	Chr11:22227307	Conflicting classifications of pathogenicity	Condition: not provided Limb-girdle muscular dystrophy, recessive Miyoshi myopathy Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia ANO5-Related Muscle Diseases	Criteria Provided Conflicting Classifications	CA5922917	rs_199888040	3 SubmittersRCV000310965 RCV000343342 RCV000392580 RCV001087647 RCV001103558
NM_213599.3(ANO5):c.2256G>A (p.Thr752=)	SNV Germline	Chr11:22274589	Conflicting classifications of pathogenicity	not specified Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-Related Muscle Diseases Autosomal recessive limb-girdle muscular dystrophy type 2L Miyoshi muscular dystrophy 3 Gnathodiaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA5923512	rs_144048656	9 SubmittersRCV000380772 RCV000873224 RCV001079931 RCV001103647 RCV002259771 RCV002259772 RCV002259770
NM_213599.3(ANO5):c.2012A>G (p.Tyr671Cys)	SNV Germline	Chr11:22270425	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications	CA5923420	rs_764261431	2 SubmittersRCV000396502 RCV000699955
NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter)	SNV Germline	Chr11:22255403	Pathogenic/Likely pathogenic	Condition: not provided Muscular dystrophy Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Multiple Submitters No Conflicts	CA5923181	rs_368970223	6 SubmittersRCV000366049 RCV000664066 RCV000691930 RCV003157505
NM_213599.3(ANO5):c.1103C>T (p.Thr368Met)	SNV Germline	Chr11:22250830	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications	CA5923127	rs_760792371	2 SubmittersRCV000355856 RCV002521946
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)	SNV Germline	Chr11:22262162	Pathogenic/Likely pathogenic	Myopathy Condition: not provided Fatty replacement of skeletal muscle Distal muscle weakness Elevated circulating creatine kinase concentration Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Miyoshi muscular dystrophy 3 Muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA5923318	rs_375014127	9 SubmittersRCV000414780 RCV000498271 RCV000627020 RCV001068054 RCV001198354 RCV001808736 RCV002288963 RCV004017585
NM_213599.3(ANO5):c.921T>C (p.Leu307=)	SNV Germline	Chr11:22250279	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications	CA5923075	rs_755092814	2 SubmittersRCV000349490 RCV002518029
NM_213599.3(ANO5):c.1031C>G (p.Pro344Arg)	SNV Germline	Chr11:22250758	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications	CA5923113	rs_541372136	4 SubmittersRCV000266534 RCV001088728
NM_213599.3(ANO5):c.1639C>T (p.Arg547Ter)	SNV Germline	Chr11:22262137	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Multiple Submitters No Conflicts	CA5923315	rs_747719953	3 SubmittersRCV000331633 RCV000726228 RCV001390092
NM_213599.3(ANO5):c.1538C>T (p.Thr513Ile)	SNV Germline	Chr11:22259649	Pathogenic/Likely pathogenic	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Multiple Submitters No Conflicts	CA10606250	rs_281865467	4 SubmittersRCV000487292 RCV000553314
NM_213599.3(ANO5):c.1450C>T (p.Arg484Cys)	SNV Germline	Chr11:22259561	Conflicting classifications of pathogenicity	Condition: not provided Miyoshi myopathy Limb-girdle muscular dystrophy, recessive ANO5-Related Muscle Diseases Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA5923264	rs_777607869	5 SubmittersRCV000341417 RCV000340589 RCV000401295 RCV001106643 RCV001850442
NM_213599.3(ANO5):c.2185G>A (p.Val729Ile)	SNV Germline	Chr11:22272939	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5923471	rs_778772732	5 SubmittersRCV000295585 RCV001244701 RCV004021272
NM_213599.3(ANO5):c.19C>T (p.Leu7=)	SNV Germline	Chr11:22193511	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA10606388	rs_886044133	2 SubmittersRCV000393325 RCV001490502
NM_213599.3(ANO5):c.1116A>G (p.Ser372=)	SNV Germline	Chr11:22250843	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA5923129	rs_151022897	2 SubmittersRCV000382407 RCV001500593
NM_213599.3(ANO5):c.1434A>C (p.Val478=)	SNV Germline	Chr11:22259545	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA10606664	rs_886044360	2 SubmittersRCV000343012 RCV001490070
NM_213599.3(ANO5):c.138+10G>A	SNV Germline	Chr11:22211324	Conflicting classifications of pathogenicity	Miyoshi myopathy Limb-girdle muscular dystrophy, recessive Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia ANO5-Related Muscle Diseases	Criteria Provided Conflicting Classifications	CA5922792	rs_78987921	2 SubmittersRCV000350049 RCV000374328 RCV000875075 RCV001108713
NM_213599.3(ANO5):c.1801-9T>C	SNV Germline	Chr11:22262937	Conflicting classifications of pathogenicity	Miyoshi myopathy Limb-girdle muscular dystrophy, recessive Condition: not provided ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-related disorder	Criteria Provided Conflicting Classifications	CA5923365	rs_202034123	4 SubmittersRCV000367137 RCV000392994 RCV000732775 RCV001108797 RCV001078627 RCV004537713
NM_213599.3(ANO5):c.88-14C>T	SNV Germline	Chr11:22211250	Conflicting classifications of pathogenicity	Miyoshi myopathy Limb-girdle muscular dystrophy, recessive ANO5-Related Muscle Diseases Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA10638161	rs_770721931	2 SubmittersRCV000270962 RCV000333099 RCV001108711 RCV002056195
NM_213599.3(ANO5):c.567A>G (p.Ala189=)	SNV Germline	Chr11:22227505	Conflicting classifications of pathogenicity	Limb-girdle muscular dystrophy, recessive Miyoshi myopathy ANO5-Related Muscle Diseases Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Conflicting Classifications	CA5922947	rs_546565538	2 SubmittersRCV000308789 RCV000365835 RCV001103560 RCV002056196
NM_213599.3(ANO5):c.1924C>G (p.Arg642Gly)	SNV Germline	Chr11:22270337	Conflicting classifications of pathogenicity	Miyoshi myopathy Limb-girdle muscular dystrophy, recessive Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia ANO5-Related Muscle Diseases	Criteria Provided Conflicting Classifications	CA5923408	rs_146341538	6 SubmittersRCV000313562 RCV000354295 RCV000732855 RCV001089163 RCV001108799
NM_213599.3(ANO5):c.2139C>T (p.Thr713=)	SNV Germline	Chr11:22272893	Conflicting classifications of pathogenicity	Miyoshi myopathy Limb-girdle muscular dystrophy, recessive not specified ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-related disorder	Criteria Provided Conflicting Classifications	CA5923464	rs_767479331	4 SubmittersRCV000259365 RCV000319328 RCV000606822 RCV001108800 RCV002056197 RCV004544512
NM_213599.3(ANO5):c.1391C>A (p.Ala464Asp)	SNV Germline	Chr11:22257738	Pathogenic/Likely pathogenic	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA16606219	rs_529961953	4 SubmittersRCV000438945 RCV001227167 RCV001535725
NM_213599.3(ANO5):c.169C>T (p.Arg57Trp)	SNV Germline	Chr11:22218276	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Miyoshi muscular dystrophy 3	Criteria Provided Conflicting Classifications	CA379924809	rs_1323349209	5 SubmittersRCV000497926 RCV000688833 RCV001254061
NM_213599.3(ANO5):c.1955A>G (p.Tyr652Cys)	SNV Germline	Chr11:22270368	Pathogenic/Likely pathogenic	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Multiple Submitters No Conflicts	CA218774174	rs_563666662	2 SubmittersRCV000498435 RCV000691138
NM_213599.3(ANO5):c.794A>G (p.Asn265Ser)	SNV Germline	Chr11:22239600	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia not specified	Criteria Provided Conflicting Classifications	CA5923033	rs_377553546	2 SubmittersRCV000528209 RCV000500288
NM_213599.3(ANO5):c.1078T>C (p.Cys360Arg)	SNV Germline	Chr11:22250805	Pathogenic	Gnathodiaphyseal dysplasia	Criteria Provided Single Submitter	CA379921084	rs_1554929292	1 SubmittersRCV000503034
NM_213599.3(ANO5):c.637A>G (p.Arg213Gly)	SNV Germline	Chr11:22227575	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications	CA379920077	rs_1490746741	2 SubmittersRCV000520345 RCV002525192
NM_213599.3(ANO5):c.817C>T (p.Leu273Phe)	SNV Germline	Chr11:22239623	Conflicting classifications of pathogenicity	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided	Criteria Provided Conflicting Classifications	CA5923041	rs_772929002	4 SubmittersRCV000687526 RCV000724847
NM_213599.3(ANO5):c.18C>T (p.Leu6=)	SNV Germline	Chr11:22193510	Conflicting classifications of pathogenicity	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided	Criteria Provided Conflicting Classifications	CA473401952	rs_1257688225	2 SubmittersRCV000547213 RCV000597491
NM_213599.3(ANO5):c.148C>T (p.Arg50Ter)	SNV Germline	Chr11:22218255	Pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Miyoshi muscular dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA379924765	rs_1168346560	2 SubmittersRCV000545507 RCV000762829
NM_213599.3(ANO5):c.1361C>T (p.Thr454Met)	SNV Germline	Chr11:22257708	Conflicting classifications of pathogenicity	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided	Criteria Provided Conflicting Classifications	CA5923226	rs_148698633	2 SubmittersRCV000532929 RCV003139837
NM_213599.3(ANO5):c.1823T>C (p.Ile608Thr)	SNV Germline	Chr11:22262968	Conflicting classifications of pathogenicity	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided	Criteria Provided Conflicting Classifications	CA5923370	rs_763783201	2 SubmittersRCV000537022 RCV003139838
NM_213599.3(ANO5):c.1963T>C (p.Trp655Arg)	SNV Germline	Chr11:22270376	Pathogenic/Likely pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA218774184	rs_912174567	2 SubmittersRCV000535657 RCV001268144
NM_213599.3(ANO5):c.412G>T (p.Glu138Ter)	SNV Germline	Chr11:22227350	Pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Single Submitter	CA379919451	rs_1554924356	1 SubmittersRCV000527894
NM_213599.3(ANO5):c.173G>A (p.Arg58Gln)	SNV Germline	Chr11:22218280	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-Related Muscle Diseases Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications	CA5922823	rs_749698519	6 SubmittersRCV000595603 RCV000813205 RCV001108715 RCV001729646
NM_213599.3(ANO5):c.149G>A (p.Arg50Gln)	SNV Germline	Chr11:22218256	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications	CA5922818	rs_370084681	4 SubmittersRCV000593489 RCV000792739
NM_213599.3(ANO5):c.2646C>T (p.Asn882=)	SNV Germline	Chr11:22279669	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications	CA218779588	rs_34969327	2 SubmittersRCV000593846 RCV002532415
NM_213599.3(ANO5):c.1516A>G (p.Ser506Gly)	SNV Germline	Chr11:22259627	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-Related Muscle Diseases Intellectual disability	Criteria Provided Conflicting Classifications	CA5923275	rs_141799673	6 SubmittersRCV000592037 RCV000699271 RCV001106644 RCV001251668
NM_213599.3(ANO5):c.1207C>T (p.Gln403Ter)	SNV Germline	Chr11:22255397	Pathogenic	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Multiple Submitters No Conflicts	CA379921410	rs_1554930267	2 SubmittersRCV000591842 RCV001854062
NM_213599.3(ANO5):c.2345C>G (p.Ser782Ter)	SNV Germline	Chr11:22274678	Pathogenic/Likely pathogenic	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Multiple Submitters No Conflicts	CA5923526	rs_753138577	4 SubmittersRCV000593128 RCV003767406
NM_213599.3(ANO5):c.1332+8A>G	SNV Germline	Chr11:22255530	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L ANO5-related disorder	Criteria Provided Conflicting Classifications	CA5923199	rs_368857740	4 SubmittersRCV000596470 RCV001430057 RCV004530723
NM_213599.3(ANO5):c.1088G>A (p.Trp363Ter)	SNV Germline	Chr11:22250815	Pathogenic/Likely pathogenic	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Multiple Submitters No Conflicts	CA379921112	rs_1554929301	2 SubmittersRCV000598911 RCV000800226
NM_213599.3(ANO5):c.1222C>T (p.Leu408=)	SNV Germline	Chr11:22255412	Conflicting classifications of pathogenicity	not specified Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications	CA218757794	rs_997655691	4 SubmittersRCV000612695 RCV000734665 RCV002062997
NM_213599.3(ANO5):c.1965G>C (p.Trp655Cys)	SNV Germline	Chr11:22270378	Conflicting classifications of pathogenicity	Elevated circulating creatine kinase concentration Fatty replacement of skeletal muscle Distal muscle weakness Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications	CA5923415	rs_760137559	2 SubmittersRCV000627022 RCV001860483
NM_213599.3(ANO5):c.1120-1G>A	SNV Germline	Chr11:22250950	Pathogenic/Likely pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA5923150	rs_561719071	3 SubmittersRCV000645351 RCV000729498 RCV003117452
NM_213599.3(ANO5):c.2117G>A (p.Arg706Gln)	SNV Germline	Chr11:22272871	Conflicting classifications of pathogenicity	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided	Criteria Provided Conflicting Classifications	CA218775842	rs_926233739	3 SubmittersRCV000645356 RCV000729727
NM_213599.3(ANO5):c.220C>T (p.Arg74Ter)	SNV Germline	Chr11:22221136	Pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Single Submitter	CA5922840	rs_749645231	1 SubmittersRCV000645355
NM_213599.3(ANO5):c.649-2A>G	SNV Germline	Chr11:22236161	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Multiple Submitters No Conflicts		rs_773736505	2 SubmittersRCV000663413 RCV003767924
NM_213599.3(ANO5):c.53A>G (p.Asn18Ser)	SNV Germline	Chr11:22203816	Conflicting classifications of pathogenicity	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Inborn genetic diseases ANO5-related disorder	Criteria Provided Conflicting Classifications		rs_1010958758	3 SubmittersRCV000707462 RCV002532874 RCV004535757
NM_213599.3(ANO5):c.295-1G>A	SNV Germline	Chr11:22225983	Likely pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Single Submitter		rs_780109230	1 SubmittersRCV000690282
NM_213599.3(ANO5):c.2481T>C (p.His827=)	SNV Germline	Chr11:22276160	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications		rs_750804063	2 SubmittersRCV000729046 RCV002535104
NM_213599.3(ANO5):c.2273G>A (p.Arg758His)	SNV Germline	Chr11:22274606	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications		rs_369058382	3 SubmittersRCV000729228 RCV001224031
NM_213599.3(ANO5):c.181-4G>A	SNV Germline	Chr11:22221093	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications		rs_186533442	2 SubmittersRCV000730584 RCV002060995
NM_213599.3(ANO5):c.1827A>G (p.Glu609=)	SNV Germline	Chr11:22262972	Conflicting classifications of pathogenicity	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications		rs_1564944168	2 SubmittersRCV000731702 RCV002061003
NM_213599.3(ANO5):c.835C>T (p.Arg279Ter)	SNV Germline	Chr11:22239641	Pathogenic	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Multiple Submitters No Conflicts		rs_1564930625	2 SubmittersRCV000732234 RCV001855768
NM_213599.3(ANO5):c.1960C>T (p.Arg654Ter)	SNV Germline	Chr11:22270373	Pathogenic	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Multiple Submitters No Conflicts		rs_1488095558	2 SubmittersRCV000732555 RCV001855686
NM_213599.3(ANO5):c.87+10A>C	SNV Germline	Chr11:22203860	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Conflicting Classifications		rs_759370330	2 SubmittersRCV000734065 RCV001409097
NM_213599.3(ANO5):c.1119+1G>T	SNV Germline	Chr11:22250847	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Multiple Submitters No Conflicts		rs_762946781	2 SubmittersRCV001240637 RCV002290657
NM_213599.3(ANO5):c.180+2T>C	SNV Germline	Chr11:22218289	Conflicting classifications of pathogenicity	ANO5-related disorder Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Conflicting Classifications		rs_1564918396	2 SubmittersRCV000778316 RCV003768423
NM_213599.3(ANO5):c.775A>T (p.Lys259Ter)	SNV Germline	Chr11:22239581	Pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Single Submitter		rs_1590266227	1 SubmittersRCV000805467
NM_213599.3(ANO5):c.1362G>A (p.Thr454=)	SNV Germline	Chr11:22257709	Conflicting classifications of pathogenicity	Myopathy ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications		rs_747933251	3 SubmittersRCV000850322 RCV001106642 RCV002538353
NM_213599.3(ANO5):c.1359C>G (p.Tyr453Ter)	SNV Germline	Chr11:22257706	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Miyoshi muscular dystrophy 3 Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Multiple Submitters No Conflicts		rs_754889480	4 SubmittersRCV000855432 RCV001784470 RCV001858524 RCV003985437
NM_213599.3(ANO5):c.1013+1G>A	SNV Unknown	Chr11:22250372	Pathogenic	Gnathodiaphyseal dysplasia	Criteria Provided Single Submitter		rs_1335126943	1 SubmittersRCV000988505
NM_213599.3(ANO5):c.1630+2T>G	SNV Germline	Chr11:22259743	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Multiple Submitters No Conflicts		rs_1590300702	2 SubmittersRCV001004964 RCV001862746
NM_213599.3(ANO5):c.627A>G (p.Pro209=)	SNV Germline	Chr11:22227565	Conflicting classifications of pathogenicity	ANO5-Related Muscle Diseases Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications		rs_761949902	2 SubmittersRCV001105478 RCV003769095
NM_213599.3(ANO5):c.2395C>T (p.Arg799Ter)	SNV Germline	Chr11:22274728	Pathogenic/Likely pathogenic	Gnathodiaphyseal dysplasia Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Multiple Submitters No Conflicts		rs_762874007	2 SubmittersRCV001196016 RCV001380381
NM_213599.3(ANO5):c.1544C>A (p.Ser515Ter)	SNV Germline	Chr11:22259655	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Single Submitter		rs_1854126127	1 SubmittersRCV001223530
NM_213599.3(ANO5):c.368C>T (p.Ser123Leu)	SNV Germline	Chr11:22227306	Conflicting classifications of pathogenicity	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided	Criteria Provided Conflicting Classifications		rs_575008764	3 SubmittersRCV001204069 RCV001532156
NM_213599.3(ANO5):c.570A>G (p.Gln190=)	SNV Germline	Chr11:22227508	Conflicting classifications of pathogenicity	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided	Criteria Provided Conflicting Classifications		rs_144159801	2 SubmittersRCV001211737 RCV001664757
NM_213599.3(ANO5):c.364-1G>A	SNV Germline	Chr11:22227301	Likely pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Single Submitter		rs_1852871649	1 SubmittersRCV001218905
NM_213599.3(ANO5):c.395A>T (p.Lys132Met)	SNV Germline	Chr11:22227333	Conflicting classifications of pathogenicity	Limb-girdle muscular dystrophy Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications		rs_1852872996	2 SubmittersRCV001254726 RCV003120511
NM_213599.3(ANO5):c.396G>C (p.Lys132Asn)	SNV Germline	Chr11:22227334	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Single Submitter		rs_375867377	1 SubmittersRCV001299170
NM_213599.3(ANO5):c.823C>T (p.Gln275Ter)	SNV Germline	Chr11:22239629	Pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Single Submitter		rs_766994696	1 SubmittersRCV001390467
NM_213599.3(ANO5):c.1690C>T (p.Gln564Ter)	SNV Germline	Chr11:22262188	Pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Single Submitter		rs_2133747657	1 SubmittersRCV001385937
NM_213599.3(ANO5):c.1924C>T (p.Arg642Ter)	SNV Germline	Chr11:22270337	Pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Single Submitter		rs_146341538	1 SubmittersRCV001389595
NM_213599.3(ANO5):c.1716C>A (p.Cys572Ter)	SNV Germline	Chr11:22262214	Pathogenic	Condition: not provided Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Multiple Submitters No Conflicts		rs_368389717	2 SubmittersRCV001783530 RCV002034569
NM_213599.3(ANO5):c.1656T>G (p.Tyr552Ter)	SNV Germline	Chr11:22262154	Pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Single Submitter		rs_2133747497	1 SubmittersRCV001904190
NM_213599.3(ANO5):c.2414+1G>C	SNV Germline	Chr11:22274748	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Single Submitter		rs_2133795361	1 SubmittersRCV001968909
NM_213599.3(ANO5):c.1639C>G (p.Arg547Gly)	SNV Germline	Chr11:22262137	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Single Submitter		rs_747719953	1 SubmittersRCV001995240
NM_213599.3(ANO5):c.258C>A (p.Tyr86Ter)	SNV Germline	Chr11:22221174	Pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_747146523	2 SubmittersRCV001972639 RCV003886541
NM_213599.3(ANO5):c.1801-1G>C	SNV Germline	Chr11:22262945	Likely pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Single Submitter		rs_2133750487	1 SubmittersRCV001971059
NM_213599.3(ANO5):c.22G>T (p.Glu8Ter)	SNV Germline	Chr11:22193514	Pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Single Submitter		rs_1191668273	1 SubmittersRCV001887501
NM_213599.3(ANO5):c.766C>T (p.Gln256Ter)	SNV Germline	Chr11:22239572	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Single Submitter		rs_794727981	1 SubmittersRCV001892278
NM_213599.3(ANO5):c.1045C>T (p.Gln349Ter)	SNV Germline	Chr11:22250772	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Single Submitter		rs_2133704072	1 SubmittersRCV002037879
NM_213599.3(ANO5):c.1531C>T (p.Gln511Ter)	SNV Germline	Chr11:22259642	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Single Submitter		rs_1486335553	1 SubmittersRCV001999983
NM_213599.3(ANO5):c.989T>A (p.Leu330Ter)	SNV Germline	Chr11:22250347	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Single Submitter		rs_373814281	1 SubmittersRCV001946654
NM_213599.3(ANO5):c.1333-2A>G	SNV Germline	Chr11:22257678	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Single Submitter		rs_2133730668	1 SubmittersRCV002008654
NM_213599.3(ANO5):c.2030-2A>T	SNV Germline	Chr11:22272782	Likely pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Single Submitter		rs_1187569251	1 SubmittersRCV002040151
NM_213599.3(ANO5):c.738C>G (p.Tyr246Ter)	SNV Germline	Chr11:22236252	Pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Single Submitter		rs_570341380	1 SubmittersRCV001983040
NM_213599.3(ANO5):c.1333-2A>T	SNV Germline	Chr11:22257678	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Single Submitter		rs_2133730668	1 SubmittersRCV001963575
NM_213599.3(ANO5):c.1721A>G (p.Tyr574Cys)	SNV Germline	Chr11:22262219	Conflicting classifications of pathogenicity	Gnathodiaphyseal dysplasia Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Conflicting Classifications		rs_2133747827	2 SubmittersRCV002248968 RCV003101336
NM_213599.3(ANO5):c.2117G>T (p.Arg706Leu)	SNV Germline	Chr11:22272871	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided	Criteria Provided Conflicting Classifications			3 SubmittersRCV002289338 RCV003097778 RCV003324851
NM_213599.3(ANO5):c.40G>A (p.Gly14Arg)	SNV Germline	Chr11:22193532	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2L Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Condition: not provided	Criteria Provided Conflicting Classifications			3 SubmittersRCV002290320 RCV003774965 RCV003138157
NM_213599.3(ANO5):c.1025G>A (p.Cys342Tyr)	SNV Germline	Chr11:22250752	Likely pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Single Submitter			1 SubmittersRCV003058294
NM_213599.3(ANO5):c.1499C>T (p.Ser500Phe)	SNV Germline	Chr11:22259610	Likely pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Single Submitter			1 SubmittersRCV003058295
NM_213599.3(ANO5):c.1964G>A (p.Trp655Ter)	SNV Germline	Chr11:22270377	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Single Submitter			1 SubmittersRCV002632405
NM_213599.3(ANO5):c.774G>A (p.Trp258Ter)	SNV Germline	Chr11:22239580	Pathogenic/Likely pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002705861 RCV003134481
NM_213599.3(ANO5):c.138+9C>T	SNV Germline	Chr11:22211323	Conflicting classifications of pathogenicity	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002725308 RCV003138335
NM_213599.3(ANO5):c.2741A>G (p.Ter914=)	SNV Germline	Chr11:22279764	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002780158 RCV003482421
NM_213599.3(ANO5):c.295-2A>G	SNV Germline	Chr11:22225982	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002819827 RCV003491153
NM_213599.3(ANO5):c.1180+1G>C	SNV Germline	Chr11:22251012	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Single Submitter			1 SubmittersRCV002857138
NM_213599.3(ANO5):c.1965G>A (p.Trp655Ter)	SNV Germline	Chr11:22270378	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Single Submitter			1 SubmittersRCV002913356
NM_213599.3(ANO5):c.1873G>T (p.Gly625Ter)	SNV Germline	Chr11:22263018	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Single Submitter			1 SubmittersRCV003046242
NM_213599.3(ANO5):c.40+2T>C	SNV Germline	Chr11:22193534	Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003132915 RCV003778733
NM_213599.3(ANO5):c.1553G>A (p.Gly518Glu)	SNV Germline	Chr11:22259664	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Single Submitter			1 SubmittersRCV003783561
NM_213599.3(ANO5):c.1451G>A (p.Arg484His)	SNV Germline	Chr11:22259562	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Single Submitter			1 SubmittersRCV003787818
NM_213599.3(ANO5):c.13G>A (p.Asp5Asn)	SNV Germline	Chr11:22193505	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003787331 RCV004366562
NM_213599.3(ANO5):c.88-1G>A	SNV Germline	Chr11:22211263	Likely pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Single Submitter			1 SubmittersRCV003793910
NM_213599.3(ANO5):c.1179G>A (p.Trp393Ter)	SNV Germline	Chr11:22251010	Pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Single Submitter			1 SubmittersRCV003790822
NM_213599.3(ANO5):c.878+1G>A	SNV Germline	Chr11:22239685	Likely pathogenic	Gnathodiaphyseal dysplasia Autosomal recessive limb-girdle muscular dystrophy type 2L	Criteria Provided Single Submitter			1 SubmittersRCV003799705
NM_213599.3(ANO5):c.1181-1G>A	SNV Germline	Chr11:22255370	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2L Gnathodiaphyseal dysplasia	Criteria Provided Single Submitter			1 SubmittersRCV003817708

NM_213599.3(ANO5):c.1066T>C (p.Cys356Arg)

SNV
Germline

Chr11:22250793

Pathogenic

Gnathodiaphyseal dysplasia
Condition: not provided

No Assertion Criteria Provided

CA232776

rs_119103234

3 SubmittersRCV000002244 RCV000128765

NM_213599.3(ANO5):c.1066T>G (p.Cys356Gly)

SNV
Germline

Chr11:22250793

Pathogenic

Gnathodiaphyseal dysplasia
Condition: not provided

No Assertion Criteria Provided

CA232778

rs_119103234

3 SubmittersRCV000002245 RCV000128766

NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly)

SNV
Germline

Chr11:22255485

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA224408

rs_137854524

8 SubmittersRCV000002246 RCV000082843 RCV000762831 RCV001851575 RCV003234889

NM_213599.3(ANO5):c.692G>T (p.Gly231Val)

SNV
Germline

Chr11:22236206

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
ANO5-related disorder
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Hereditary fructosuria
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA224418

rs_137854523

26 SubmittersRCV000002249 RCV000082853 RCV000369126 RCV000627782 RCV000762830 RCV000825558 RCV003993729 RCV003993730

NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)

SNV
Germline

Chr11:22274605

Pathogenic/Likely pathogenic

Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA130516

rs_137854529

20 SubmittersRCV000002250 RCV000032966 RCV000128778 RCV000811162

NM_213599.3(ANO5):c.1541C>T (p.Thr514Ile)

SNV
Germline

Chr11:22259652

Pathogenic

Gnathodiaphyseal dysplasia

No Assertion Criteria Provided

CA144627

rs_397514736

1 SubmittersRCV000054502

NM_213599.3(ANO5):c.1746C>T (p.Phe582=)

SNV
Germline

Chr11:22262244

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

rs_267602823

2 SubmittersRCV000729825 RCV001458065

NM_213599.3(ANO5):c.1029C>T (p.Asp343=)

SNV
Germline

Chr11:22250756

Conflicting classifications of pathogenicity

not specified
Limb-girdle muscular dystrophy, recessive
Miyoshi myopathy
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-Related Muscle Diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA149668

rs_78899595

8 SubmittersRCV000082842 RCV000319437 RCV000371764 RCV000526534 RCV001105484 RCV003736572

NM_213599.3(ANO5):c.242A>G (p.Asp81Gly)

SNV
Germline

Chr11:22221158

Pathogenic/Likely pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA224411

rs_199501657

4 SubmittersRCV000082846 RCV001377409

NM_213599.3(ANO5):c.364-8T>A

SNV
Germline

Chr11:22227294

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA224417

rs_398124624

2 SubmittersRCV000082850 RCV001480649

NM_213599.3(ANO5):c.41-1G>A

SNV
Germline

Chr11:22203803

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA201762

rs_398124625

7 SubmittersRCV000082852 RCV000176019 RCV000645359

NM_213599.3(ANO5):c.2259A>G (p.Ser753=)

SNV
Germline

Chr11:22274592

Conflicting classifications of pathogenicity

not specified
Limb-girdle muscular dystrophy, recessive
Miyoshi myopathy
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-Related Muscle Diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA151827

rs_61746201

6 SubmittersRCV000116353 RCV000350360 RCV000398827 RCV000527349 RCV001103648 RCV003736576

NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)

SNV
Germline

Chr11:22262231

Pathogenic/Likely pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Abnormality of the musculature
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA232785

rs_137854526

12 SubmittersRCV000128774 RCV000405473 RCV001814063 RCV002288618 RCV002498636 RCV002464119

NM_213599.3(ANO5):c.2018A>G (p.Tyr673Cys)

SNV
Germline

Chr11:22270431

Pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA232789

rs_137854527

4 SubmittersRCV000128776 RCV000645348

NM_213599.3(ANO5):c.1800+5G>A

SNV
Germline

Chr11:22262303

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-related disorder

Criteria Provided
Conflicting Classifications

CA240799

rs_794727179

3 SubmittersRCV000175112 RCV001852139 RCV004539623

NM_213599.3(ANO5):c.1898+1G>A

SNV
Germline

Chr11:22263044

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA201366

rs_142027093

13 SubmittersRCV000479758 RCV000627783 RCV000762832 RCV001270118

NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser)

SNV
Germline

Chr11:22272895

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Condition: not provided
Gnathodiaphyseal dysplasia
ANO5-Related Muscle Diseases
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA241255

rs_200631556

10 SubmittersRCV000534324 RCV000710577 RCV000988506 RCV001108801 RCV002288780

NM_213599.3(ANO5):c.2521C>G (p.His841Asp)

SNV
Germline

Chr11:22279544

Conflicting classifications of pathogenicity

Condition: not provided
ANO5-related disorder
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA242241

rs_781027702

8 SubmittersRCV000176339 RCV000778321 RCV000791570 RCV001254725 RCV003330536

NM_213599.3(ANO5):c.2698A>C (p.Met900Leu)

SNV
Germline

Chr11:22279721

Conflicting classifications of pathogenicity

not specified
Condition: not provided
ANO5-Related Muscle Diseases
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA242244

rs_148293985

10 SubmittersRCV000176340 RCV000428732 RCV001105586 RCV001082354 RCV001333778

NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)

SNV
Germline

Chr11:22218279

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3
Abnormality of the musculature
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA202865

rs_201725369

16 SubmittersRCV000178420 RCV000254777 RCV000684805 RCV001254062 RCV001814090 RCV002282002

NM_213599.3(ANO5):c.155A>G (p.Asn52Ser)

SNV
Germline

Chr11:22218262

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Gnathodiaphyseal dysplasia
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-Related Muscle Diseases

Criteria Provided
Conflicting Classifications

CA245507

rs_143777403

11 SubmittersRCV000178421 RCV000723959 RCV000988500 RCV001086326 RCV001108714

NM_213599.3(ANO5):c.294G>A (p.Ala98=)

SNV
Germline

Chr11:22221210

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
ANO5-Related Muscle Diseases

Criteria Provided
Conflicting Classifications

CA246289

rs_142858990

7 SubmittersRCV000724236 RCV001085524 RCV001103557

NM_213599.3(ANO5):c.762+1G>A

SNV
Germline

Chr11:22236277

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA210044

rs_372221490

4 SubmittersRCV000201014 RCV000725769 RCV000823520

NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter)

SNV
Germline

Chr11:22255400

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
ANO5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA210078

rs_566415362

5 SubmittersRCV000201148 RCV000521518 RCV001853222 RCV004541281

NM_213599.3(ANO5):c.1227A>G (p.Glu409=)

SNV
Germline

Chr11:22255417

Conflicting classifications of pathogenicity

not specified
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5923184

rs_781554633

2 SubmittersRCV000248073 RCV002518675

NM_213599.3(ANO5):c.2688C>G (p.Ala896=)

SNV
Germline

Chr11:22279711

Conflicting classifications of pathogenicity

not specified
Miyoshi myopathy
Limb-girdle muscular dystrophy, recessive
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
ANO5-Related Muscle Diseases

Criteria Provided
Conflicting Classifications

CA5923639

rs_377549896

5 SubmittersRCV000246923 RCV000303740 RCV000358513 RCV000725634 RCV001080760 RCV001103654

NM_213599.3(ANO5):c.279C>T (p.Asp93=)

SNV
Germline

Chr11:22221195

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-related disorder

Criteria Provided
Conflicting Classifications

CA5922853

rs_148516756

4 SubmittersRCV000274733 RCV001087722 RCV004542988

NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln)

SNV
Germline

Chr11:22262138

Conflicting classifications of pathogenicity

Condition: not provided
ANO5-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA5923316

rs_139618850

6 SubmittersRCV000322343 RCV000778318 RCV000758149 RCV000807697 RCV003323487

NM_213599.3(ANO5):c.680G>C (p.Gly227Ala)

SNV
Germline

Chr11:22236194

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Gnathodiaphyseal dysplasia
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-Related Muscle Diseases

Criteria Provided
Conflicting Classifications

CA5922992

rs_140903276

7 SubmittersRCV000388640 RCV000710581 RCV000988503 RCV001079543 RCV001105479

NM_213599.3(ANO5):c.259G>A (p.Val87Ile)

SNV
Germline

Chr11:22221175

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Gnathodiaphyseal dysplasia
ANO5-Related Muscle Diseases
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5922846

rs_34994927

7 SubmittersRCV000296622 RCV000710578 RCV000988501 RCV001108716 RCV001086686

NM_213599.3(ANO5):c.2610A>G (p.Leu870=)

SNV
Germline

Chr11:22279633

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5923627

rs_369103376

2 SubmittersRCV000365825 RCV001471076

NM_213599.3(ANO5):c.1548C>T (p.Leu516=)

SNV
Germline

Chr11:22259659

Conflicting classifications of pathogenicity

Condition: not provided
Miyoshi myopathy
Limb-girdle muscular dystrophy, recessive
ANO5-Related Muscle Diseases
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA10604491

rs_886042624

3 SubmittersRCV000297485 RCV000291597 RCV000344249 RCV001106645 RCV002521899

NM_213599.3(ANO5):c.720G>T (p.Leu240=)

SNV
Germline

Chr11:22236234

Conflicting classifications of pathogenicity

Limb-girdle muscular dystrophy, recessive
Miyoshi myopathy
Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-Related Muscle Diseases

Criteria Provided
Conflicting Classifications

CA5923000

rs_147121216

5 SubmittersRCV000276909 RCV000329671 RCV000710077 RCV001085068 RCV001105480

NM_213599.3(ANO5):c.1860G>A (p.Gly620=)

SNV
Germline

Chr11:22263005

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA10604639

rs_886042751

2 SubmittersRCV000328784 RCV001443918

NM_213599.3(ANO5):c.689A>G (p.Asp230Gly)

SNV
Germline

Chr11:22236203

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5922994

rs_139259793

4 SubmittersRCV000369519 RCV000645360

NM_213599.3(ANO5):c.1497A>G (p.Ala499=)

SNV
Germline

Chr11:22259608

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA10604874

rs_886042923

2 SubmittersRCV000391587 RCV002059159

NM_213599.3(ANO5):c.295-7G>A

SNV
Germline

Chr11:22225977

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5922875

rs_753416246

2 SubmittersRCV000384541 RCV001446742

NM_213599.3(ANO5):c.525C>G (p.Leu175=)

SNV
Germline

Chr11:22227463

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5922940

rs_143331003

2 SubmittersRCV000403505 RCV001083835

NM_213599.3(ANO5):c.276A>G (p.Lys92=)

SNV
Germline

Chr11:22221192

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA5922852

rs_201678262

3 SubmittersRCV000321766 RCV000725595 RCV002059168

NM_213599.3(ANO5):c.2498T>A (p.Met833Lys)

SNV
Germline

Chr11:22276177

Pathogenic/Likely pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA5923597

rs_142073798

9 SubmittersRCV000347528 RCV000645350 RCV000778320 RCV001729506 RCV002502129

NM_213599.3(ANO5):c.369G>A (p.Ser123=)

SNV
Germline

Chr11:22227307

Conflicting classifications of pathogenicity

Condition: not provided
Limb-girdle muscular dystrophy, recessive
Miyoshi myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
ANO5-Related Muscle Diseases

Criteria Provided
Conflicting Classifications

CA5922917

rs_199888040

3 SubmittersRCV000310965 RCV000343342 RCV000392580 RCV001087647 RCV001103558

NM_213599.3(ANO5):c.2256G>A (p.Thr752=)

SNV
Germline

Chr11:22274589

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-Related Muscle Diseases
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA5923512

rs_144048656

9 SubmittersRCV000380772 RCV000873224 RCV001079931 RCV001103647 RCV002259771 RCV002259772 RCV002259770

NM_213599.3(ANO5):c.2012A>G (p.Tyr671Cys)

SNV
Germline

Chr11:22270425

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5923420

rs_764261431

2 SubmittersRCV000396502 RCV000699955

NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter)

SNV
Germline

Chr11:22255403

Pathogenic/Likely pathogenic

Condition: not provided
Muscular dystrophy
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA5923181

rs_368970223

6 SubmittersRCV000366049 RCV000664066 RCV000691930 RCV003157505

NM_213599.3(ANO5):c.1103C>T (p.Thr368Met)

SNV
Germline

Chr11:22250830

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5923127

rs_760792371

2 SubmittersRCV000355856 RCV002521946

NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)

SNV
Germline

Chr11:22262162

Pathogenic/Likely pathogenic

Myopathy
Condition: not provided
Fatty replacement of skeletal muscle
Distal muscle weakness
Elevated circulating creatine kinase concentration
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA5923318

rs_375014127

9 SubmittersRCV000414780 RCV000498271 RCV000627020 RCV001068054 RCV001198354 RCV001808736 RCV002288963 RCV004017585

NM_213599.3(ANO5):c.921T>C (p.Leu307=)

SNV
Germline

Chr11:22250279

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5923075

rs_755092814

2 SubmittersRCV000349490 RCV002518029

NM_213599.3(ANO5):c.1031C>G (p.Pro344Arg)

SNV
Germline

Chr11:22250758

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5923113

rs_541372136

4 SubmittersRCV000266534 RCV001088728

NM_213599.3(ANO5):c.1639C>T (p.Arg547Ter)

SNV
Germline

Chr11:22262137

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA5923315

rs_747719953

3 SubmittersRCV000331633 RCV000726228 RCV001390092

NM_213599.3(ANO5):c.1538C>T (p.Thr513Ile)

SNV
Germline

Chr11:22259649

Pathogenic/Likely pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA10606250

rs_281865467

4 SubmittersRCV000487292 RCV000553314

NM_213599.3(ANO5):c.1450C>T (p.Arg484Cys)

SNV
Germline

Chr11:22259561

Conflicting classifications of pathogenicity

Condition: not provided
Miyoshi myopathy
Limb-girdle muscular dystrophy, recessive
ANO5-Related Muscle Diseases
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA5923264

rs_777607869

5 SubmittersRCV000341417 RCV000340589 RCV000401295 RCV001106643 RCV001850442

NM_213599.3(ANO5):c.2185G>A (p.Val729Ile)

SNV
Germline

Chr11:22272939

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5923471

rs_778772732

5 SubmittersRCV000295585 RCV001244701 RCV004021272

NM_213599.3(ANO5):c.19C>T (p.Leu7=)

SNV
Germline

Chr11:22193511

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA10606388

rs_886044133

2 SubmittersRCV000393325 RCV001490502

NM_213599.3(ANO5):c.1116A>G (p.Ser372=)

SNV
Germline

Chr11:22250843

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA5923129

rs_151022897

2 SubmittersRCV000382407 RCV001500593

NM_213599.3(ANO5):c.1434A>C (p.Val478=)

SNV
Germline

Chr11:22259545

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA10606664

rs_886044360

2 SubmittersRCV000343012 RCV001490070

NM_213599.3(ANO5):c.138+10G>A

SNV
Germline

Chr11:22211324

Conflicting classifications of pathogenicity

Miyoshi myopathy
Limb-girdle muscular dystrophy, recessive
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
ANO5-Related Muscle Diseases

Criteria Provided
Conflicting Classifications

CA5922792

rs_78987921

2 SubmittersRCV000350049 RCV000374328 RCV000875075 RCV001108713

NM_213599.3(ANO5):c.1801-9T>C

SNV
Germline

Chr11:22262937

Conflicting classifications of pathogenicity

Miyoshi myopathy
Limb-girdle muscular dystrophy, recessive
Condition: not provided
ANO5-Related Muscle Diseases
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-related disorder

Criteria Provided
Conflicting Classifications

CA5923365

rs_202034123

4 SubmittersRCV000367137 RCV000392994 RCV000732775 RCV001108797 RCV001078627 RCV004537713

NM_213599.3(ANO5):c.88-14C>T

SNV
Germline

Chr11:22211250

Conflicting classifications of pathogenicity

Miyoshi myopathy
Limb-girdle muscular dystrophy, recessive
ANO5-Related Muscle Diseases
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA10638161

rs_770721931

2 SubmittersRCV000270962 RCV000333099 RCV001108711 RCV002056195

NM_213599.3(ANO5):c.567A>G (p.Ala189=)

SNV
Germline

Chr11:22227505

Conflicting classifications of pathogenicity

Limb-girdle muscular dystrophy, recessive
Miyoshi myopathy
ANO5-Related Muscle Diseases
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA5922947

rs_546565538

2 SubmittersRCV000308789 RCV000365835 RCV001103560 RCV002056196

NM_213599.3(ANO5):c.1924C>G (p.Arg642Gly)

SNV
Germline

Chr11:22270337

Conflicting classifications of pathogenicity

Miyoshi myopathy
Limb-girdle muscular dystrophy, recessive
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
ANO5-Related Muscle Diseases

Criteria Provided
Conflicting Classifications

CA5923408

rs_146341538

6 SubmittersRCV000313562 RCV000354295 RCV000732855 RCV001089163 RCV001108799

NM_213599.3(ANO5):c.2139C>T (p.Thr713=)

SNV
Germline

Chr11:22272893

Conflicting classifications of pathogenicity

Miyoshi myopathy
Limb-girdle muscular dystrophy, recessive
not specified
ANO5-Related Muscle Diseases
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-related disorder

Criteria Provided
Conflicting Classifications

CA5923464

rs_767479331

4 SubmittersRCV000259365 RCV000319328 RCV000606822 RCV001108800 RCV002056197 RCV004544512

NM_213599.3(ANO5):c.1391C>A (p.Ala464Asp)

SNV
Germline

Chr11:22257738

Pathogenic/Likely pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16606219

rs_529961953

4 SubmittersRCV000438945 RCV001227167 RCV001535725

NM_213599.3(ANO5):c.169C>T (p.Arg57Trp)

SNV
Germline

Chr11:22218276

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3

Criteria Provided
Conflicting Classifications

CA379924809

rs_1323349209

5 SubmittersRCV000497926 RCV000688833 RCV001254061

NM_213599.3(ANO5):c.1955A>G (p.Tyr652Cys)

SNV
Germline

Chr11:22270368

Pathogenic/Likely pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA218774174

rs_563666662

2 SubmittersRCV000498435 RCV000691138

NM_213599.3(ANO5):c.794A>G (p.Asn265Ser)

SNV
Germline

Chr11:22239600

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
not specified

Criteria Provided
Conflicting Classifications

CA5923033

rs_377553546

2 SubmittersRCV000528209 RCV000500288

NM_213599.3(ANO5):c.1078T>C (p.Cys360Arg)

SNV
Germline

Chr11:22250805

Pathogenic

Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

CA379921084

rs_1554929292

1 SubmittersRCV000503034

NM_213599.3(ANO5):c.637A>G (p.Arg213Gly)

SNV
Germline

Chr11:22227575

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA379920077

rs_1490746741

2 SubmittersRCV000520345 RCV002525192

NM_213599.3(ANO5):c.817C>T (p.Leu273Phe)

SNV
Germline

Chr11:22239623

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5923041

rs_772929002

4 SubmittersRCV000687526 RCV000724847

NM_213599.3(ANO5):c.18C>T (p.Leu6=)

SNV
Germline

Chr11:22193510

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided

Criteria Provided
Conflicting Classifications

CA473401952

rs_1257688225

2 SubmittersRCV000547213 RCV000597491

NM_213599.3(ANO5):c.148C>T (p.Arg50Ter)

SNV
Germline

Chr11:22218255

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA379924765

rs_1168346560

2 SubmittersRCV000545507 RCV000762829

NM_213599.3(ANO5):c.1361C>T (p.Thr454Met)

SNV
Germline

Chr11:22257708

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5923226

rs_148698633

2 SubmittersRCV000532929 RCV003139837

NM_213599.3(ANO5):c.1823T>C (p.Ile608Thr)

SNV
Germline

Chr11:22262968

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5923370

rs_763783201

2 SubmittersRCV000537022 RCV003139838

NM_213599.3(ANO5):c.1963T>C (p.Trp655Arg)

SNV
Germline

Chr11:22270376

Pathogenic/Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA218774184

rs_912174567

2 SubmittersRCV000535657 RCV001268144

NM_213599.3(ANO5):c.412G>T (p.Glu138Ter)

SNV
Germline

Chr11:22227350

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA379919451

rs_1554924356

1 SubmittersRCV000527894

NM_213599.3(ANO5):c.173G>A (p.Arg58Gln)

SNV
Germline

Chr11:22218280

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-Related Muscle Diseases
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5922823

rs_749698519

6 SubmittersRCV000595603 RCV000813205 RCV001108715 RCV001729646

NM_213599.3(ANO5):c.149G>A (p.Arg50Gln)

SNV
Germline

Chr11:22218256

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5922818

rs_370084681

4 SubmittersRCV000593489 RCV000792739

NM_213599.3(ANO5):c.2646C>T (p.Asn882=)

SNV
Germline

Chr11:22279669

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA218779588

rs_34969327

2 SubmittersRCV000593846 RCV002532415

NM_213599.3(ANO5):c.1516A>G (p.Ser506Gly)

SNV
Germline

Chr11:22259627

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-Related Muscle Diseases
Intellectual disability

Criteria Provided
Conflicting Classifications

CA5923275

rs_141799673

6 SubmittersRCV000592037 RCV000699271 RCV001106644 RCV001251668

NM_213599.3(ANO5):c.1207C>T (p.Gln403Ter)

SNV
Germline

Chr11:22255397

Pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA379921410

rs_1554930267

2 SubmittersRCV000591842 RCV001854062

NM_213599.3(ANO5):c.2345C>G (p.Ser782Ter)

SNV
Germline

Chr11:22274678

Pathogenic/Likely pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA5923526

rs_753138577

4 SubmittersRCV000593128 RCV003767406

NM_213599.3(ANO5):c.1332+8A>G

SNV
Germline

Chr11:22255530

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-related disorder

Criteria Provided
Conflicting Classifications

CA5923199

rs_368857740

4 SubmittersRCV000596470 RCV001430057 RCV004530723

NM_213599.3(ANO5):c.1088G>A (p.Trp363Ter)

SNV
Germline

Chr11:22250815

Pathogenic/Likely pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

CA379921112

rs_1554929301

2 SubmittersRCV000598911 RCV000800226

NM_213599.3(ANO5):c.1222C>T (p.Leu408=)

SNV
Germline

Chr11:22255412

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA218757794

rs_997655691

4 SubmittersRCV000612695 RCV000734665 RCV002062997

NM_213599.3(ANO5):c.1965G>C (p.Trp655Cys)

SNV
Germline

Chr11:22270378

Conflicting classifications of pathogenicity

Elevated circulating creatine kinase concentration
Fatty replacement of skeletal muscle
Distal muscle weakness
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

CA5923415

rs_760137559

2 SubmittersRCV000627022 RCV001860483

NM_213599.3(ANO5):c.1120-1G>A

SNV
Germline

Chr11:22250950

Pathogenic/Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA5923150

rs_561719071

3 SubmittersRCV000645351 RCV000729498 RCV003117452

NM_213599.3(ANO5):c.2117G>A (p.Arg706Gln)

SNV
Germline

Chr11:22272871

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided

Criteria Provided
Conflicting Classifications

CA218775842

rs_926233739

3 SubmittersRCV000645356 RCV000729727

NM_213599.3(ANO5):c.220C>T (p.Arg74Ter)

SNV
Germline

Chr11:22221136

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

CA5922840

rs_749645231

1 SubmittersRCV000645355

NM_213599.3(ANO5):c.649-2A>G

SNV
Germline

Chr11:22236161

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_773736505

2 SubmittersRCV000663413 RCV003767924

NM_213599.3(ANO5):c.53A>G (p.Asn18Ser)

SNV
Germline

Chr11:22203816

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Inborn genetic diseases
ANO5-related disorder

Criteria Provided
Conflicting Classifications

rs_1010958758

3 SubmittersRCV000707462 RCV002532874 RCV004535757

NM_213599.3(ANO5):c.295-1G>A

SNV
Germline

Chr11:22225983

Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

rs_780109230

1 SubmittersRCV000690282

NM_213599.3(ANO5):c.2481T>C (p.His827=)

SNV
Germline

Chr11:22276160

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

rs_750804063

2 SubmittersRCV000729046 RCV002535104

NM_213599.3(ANO5):c.2273G>A (p.Arg758His)

SNV
Germline

Chr11:22274606

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

rs_369058382

3 SubmittersRCV000729228 RCV001224031

NM_213599.3(ANO5):c.181-4G>A

SNV
Germline

Chr11:22221093

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

rs_186533442

2 SubmittersRCV000730584 RCV002060995

NM_213599.3(ANO5):c.1827A>G (p.Glu609=)

SNV
Germline

Chr11:22262972

Conflicting classifications of pathogenicity

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

rs_1564944168

2 SubmittersRCV000731702 RCV002061003

NM_213599.3(ANO5):c.835C>T (p.Arg279Ter)

SNV
Germline

Chr11:22239641

Pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

rs_1564930625

2 SubmittersRCV000732234 RCV001855768

NM_213599.3(ANO5):c.1960C>T (p.Arg654Ter)

SNV
Germline

Chr11:22270373

Pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

rs_1488095558

2 SubmittersRCV000732555 RCV001855686

NM_213599.3(ANO5):c.87+10A>C

SNV
Germline

Chr11:22203860

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

rs_759370330

2 SubmittersRCV000734065 RCV001409097

NM_213599.3(ANO5):c.1119+1G>T

SNV
Germline

Chr11:22250847

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

rs_762946781

2 SubmittersRCV001240637 RCV002290657

NM_213599.3(ANO5):c.180+2T>C

SNV
Germline

Chr11:22218289

Conflicting classifications of pathogenicity

ANO5-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Conflicting Classifications

rs_1564918396

2 SubmittersRCV000778316 RCV003768423

NM_213599.3(ANO5):c.775A>T (p.Lys259Ter)

SNV
Germline

Chr11:22239581

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

rs_1590266227

1 SubmittersRCV000805467

NM_213599.3(ANO5):c.1362G>A (p.Thr454=)

SNV
Germline

Chr11:22257709

Conflicting classifications of pathogenicity

Myopathy
ANO5-Related Muscle Diseases
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

rs_747933251

3 SubmittersRCV000850322 RCV001106642 RCV002538353

NM_213599.3(ANO5):c.1359C>G (p.Tyr453Ter)

SNV
Germline

Chr11:22257706

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

rs_754889480

4 SubmittersRCV000855432 RCV001784470 RCV001858524 RCV003985437

NM_213599.3(ANO5):c.1013+1G>A

SNV
Unknown

Chr11:22250372

Pathogenic

Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

rs_1335126943

1 SubmittersRCV000988505

NM_213599.3(ANO5):c.1630+2T>G

SNV
Germline

Chr11:22259743

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1590300702

2 SubmittersRCV001004964 RCV001862746

NM_213599.3(ANO5):c.627A>G (p.Pro209=)

SNV
Germline

Chr11:22227565

Conflicting classifications of pathogenicity

ANO5-Related Muscle Diseases
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

rs_761949902

2 SubmittersRCV001105478 RCV003769095

NM_213599.3(ANO5):c.2395C>T (p.Arg799Ter)

SNV
Germline

Chr11:22274728

Pathogenic/Likely pathogenic

Gnathodiaphyseal dysplasia
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

rs_762874007

2 SubmittersRCV001196016 RCV001380381

NM_213599.3(ANO5):c.1544C>A (p.Ser515Ter)

SNV
Germline

Chr11:22259655

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

rs_1854126127

1 SubmittersRCV001223530

NM_213599.3(ANO5):c.368C>T (p.Ser123Leu)

SNV
Germline

Chr11:22227306

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_575008764

3 SubmittersRCV001204069 RCV001532156

NM_213599.3(ANO5):c.570A>G (p.Gln190=)

SNV
Germline

Chr11:22227508

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_144159801

2 SubmittersRCV001211737 RCV001664757

NM_213599.3(ANO5):c.364-1G>A

SNV
Germline

Chr11:22227301

Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

rs_1852871649

1 SubmittersRCV001218905

NM_213599.3(ANO5):c.395A>T (p.Lys132Met)

SNV
Germline

Chr11:22227333

Conflicting classifications of pathogenicity

Limb-girdle muscular dystrophy
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

rs_1852872996

2 SubmittersRCV001254726 RCV003120511

NM_213599.3(ANO5):c.396G>C (p.Lys132Asn)

SNV
Germline

Chr11:22227334

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

rs_375867377

1 SubmittersRCV001299170

NM_213599.3(ANO5):c.823C>T (p.Gln275Ter)

SNV
Germline

Chr11:22239629

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

rs_766994696

1 SubmittersRCV001390467

NM_213599.3(ANO5):c.1690C>T (p.Gln564Ter)

SNV
Germline

Chr11:22262188

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

rs_2133747657

1 SubmittersRCV001385937

NM_213599.3(ANO5):c.1924C>T (p.Arg642Ter)

SNV
Germline

Chr11:22270337

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

rs_146341538

1 SubmittersRCV001389595

NM_213599.3(ANO5):c.1716C>A (p.Cys572Ter)

SNV
Germline

Chr11:22262214

Pathogenic

Condition: not provided
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Multiple Submitters
No Conflicts

rs_368389717

2 SubmittersRCV001783530 RCV002034569

NM_213599.3(ANO5):c.1656T>G (p.Tyr552Ter)

SNV
Germline

Chr11:22262154

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

rs_2133747497

1 SubmittersRCV001904190

NM_213599.3(ANO5):c.2414+1G>C

SNV
Germline

Chr11:22274748

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

rs_2133795361

1 SubmittersRCV001968909

NM_213599.3(ANO5):c.1639C>G (p.Arg547Gly)

SNV
Germline

Chr11:22262137

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

rs_747719953

1 SubmittersRCV001995240

NM_213599.3(ANO5):c.258C>A (p.Tyr86Ter)

SNV
Germline

Chr11:22221174

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_747146523

2 SubmittersRCV001972639 RCV003886541

NM_213599.3(ANO5):c.1801-1G>C

SNV
Germline

Chr11:22262945

Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

rs_2133750487

1 SubmittersRCV001971059

NM_213599.3(ANO5):c.22G>T (p.Glu8Ter)

SNV
Germline

Chr11:22193514

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

rs_1191668273

1 SubmittersRCV001887501

NM_213599.3(ANO5):c.766C>T (p.Gln256Ter)

SNV
Germline

Chr11:22239572

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

rs_794727981

1 SubmittersRCV001892278

NM_213599.3(ANO5):c.1045C>T (p.Gln349Ter)

SNV
Germline

Chr11:22250772

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

rs_2133704072

1 SubmittersRCV002037879

NM_213599.3(ANO5):c.1531C>T (p.Gln511Ter)

SNV
Germline

Chr11:22259642

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

rs_1486335553

1 SubmittersRCV001999983

NM_213599.3(ANO5):c.989T>A (p.Leu330Ter)

SNV
Germline

Chr11:22250347

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

rs_373814281

1 SubmittersRCV001946654

NM_213599.3(ANO5):c.1333-2A>G

SNV
Germline

Chr11:22257678

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

rs_2133730668

1 SubmittersRCV002008654

NM_213599.3(ANO5):c.2030-2A>T

SNV
Germline

Chr11:22272782

Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

rs_1187569251

1 SubmittersRCV002040151

NM_213599.3(ANO5):c.738C>G (p.Tyr246Ter)

SNV
Germline

Chr11:22236252

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

rs_570341380

1 SubmittersRCV001983040

NM_213599.3(ANO5):c.1333-2A>T

SNV
Germline

Chr11:22257678

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

rs_2133730668

1 SubmittersRCV001963575

NM_213599.3(ANO5):c.1721A>G (p.Tyr574Cys)

SNV
Germline

Chr11:22262219

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Conflicting Classifications

rs_2133747827

2 SubmittersRCV002248968 RCV003101336

NM_213599.3(ANO5):c.2117G>T (p.Arg706Leu)

SNV
Germline

Chr11:22272871

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002289338 RCV003097778 RCV003324851

NM_213599.3(ANO5):c.40G>A (p.Gly14Arg)

SNV
Germline

Chr11:22193532

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002290320 RCV003774965 RCV003138157

NM_213599.3(ANO5):c.1025G>A (p.Cys342Tyr)

SNV
Germline

Chr11:22250752

Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

1 SubmittersRCV003058294

NM_213599.3(ANO5):c.1499C>T (p.Ser500Phe)

SNV
Germline

Chr11:22259610

Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

1 SubmittersRCV003058295

NM_213599.3(ANO5):c.1964G>A (p.Trp655Ter)

SNV
Germline

Chr11:22270377

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV002632405

NM_213599.3(ANO5):c.774G>A (p.Trp258Ter)

SNV
Germline

Chr11:22239580

Pathogenic/Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002705861 RCV003134481

NM_213599.3(ANO5):c.138+9C>T

SNV
Germline

Chr11:22211323

Conflicting classifications of pathogenicity

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002725308 RCV003138335

NM_213599.3(ANO5):c.2741A>G (p.Ter914=)

SNV
Germline

Chr11:22279764

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002780158 RCV003482421

NM_213599.3(ANO5):c.295-2A>G

SNV
Germline

Chr11:22225982

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002819827 RCV003491153

NM_213599.3(ANO5):c.1180+1G>C

SNV
Germline

Chr11:22251012

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV002857138

NM_213599.3(ANO5):c.1965G>A (p.Trp655Ter)

SNV
Germline

Chr11:22270378

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV002913356

NM_213599.3(ANO5):c.1873G>T (p.Gly625Ter)

SNV
Germline

Chr11:22263018

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV003046242

NM_213599.3(ANO5):c.40+2T>C

SNV
Germline

Chr11:22193534

Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003132915 RCV003778733

NM_213599.3(ANO5):c.1553G>A (p.Gly518Glu)

SNV
Germline

Chr11:22259664

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV003783561

NM_213599.3(ANO5):c.1451G>A (p.Arg484His)

SNV
Germline

Chr11:22259562

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV003787818

NM_213599.3(ANO5):c.13G>A (p.Asp5Asn)

SNV
Germline

Chr11:22193505

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003787331 RCV004366562

NM_213599.3(ANO5):c.88-1G>A

SNV
Germline

Chr11:22211263

Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

1 SubmittersRCV003793910

NM_213599.3(ANO5):c.1179G>A (p.Trp393Ter)

SNV
Germline

Chr11:22251010

Pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

1 SubmittersRCV003790822

NM_213599.3(ANO5):c.878+1G>A

SNV
Germline

Chr11:22239685

Likely pathogenic

Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L

Criteria Provided
Single Submitter

1 SubmittersRCV003799705

NM_213599.3(ANO5):c.1181-1G>A

SNV
Germline

Chr11:22255370

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia

Criteria Provided
Single Submitter

1 SubmittersRCV003817708