Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_017739.4(POMGNT1):c.1413+1G>T	SNV Germline	Chr1:46192307	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA116538	rs_587777821	2 SubmittersRCV001377279 RCV001847568
NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)	SNV Germline	Chr1:46190473	Pathogenic/Likely pathogenic	Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA116540	rs_193919335	4 SubmittersRCV000169201 RCV001847570 RCV005406722
NM_017739.4(POMGNT1):c.1478C>G (p.Pro493Arg)	SNV Germline	Chr1:46192159	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	No Assertion Criteria Provided	CA116544	rs_28942068	1 SubmittersRCV001847572
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)	SNV Germline	Chr1:46192397	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 76 Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy Autosomal recessive limb-girdle muscular dystrophy Retinal dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76	Criteria Provided Multiple Submitters No Conflicts	CA116547	rs_28940869	13 SubmittersRCV000150001 RCV000984303 RCV000984210 RCV000984301 RCV000984302 RCV001219572 RCV001847573 RCV002512738 RCV002222337 RCV004814821 RCV005025002
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)	SNV Germline	Chr1:46193873	Pathogenic/Likely pathogenic	Muscle eye brain disease Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76	Criteria Provided Multiple Submitters No Conflicts	CA211242	rs_193919336	11 SubmittersRCV000049989 RCV001582464 RCV001370524 RCV001847574 RCV002509144 RCV002512739 RCV005862697
NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter)	SNV Germline	Chr1:46197018	Pathogenic	Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscle eye brain disease	Criteria Provided Multiple Submitters No Conflicts	CA116550	rs_193919337	8 SubmittersRCV000240891 RCV001390610 RCV001847575 RCV001529546 RCV005016236 RCV004566681 RCV006638532
NM_017739.4(POMGNT1):c.1425G>A (p.Trp475Ter)	SNV Germline	Chr1:46192212	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA116554	rs_267606961	2 SubmittersRCV001847577
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)	SNV Germline	Chr1:46189973	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2O not specified Condition: not provided Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Congenital Muscular Dystrophy, alpha-dystroglycan related Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Structural eye disease Retinitis pigmentosa 40	Criteria Provided Conflicting Classifications	CA116557	rs_74374973	17 SubmittersRCV000004204 RCV000081801 RCV000710195 RCV000671438 RCV001082774 RCV001097781 RCV001579238 RCV001449938 RCV001579237 RCV005400692 RCV006697966
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro)	SNV Germline	Chr1:46189539	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscle eye brain disease Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Condition: not provided Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA116560	rs_267606962	9 SubmittersRCV000004205 RCV000671290 RCV000824425 RCV001268426 RCV002512740 RCV003322587
NM_017739.4(POMGNT1):c.652+1G>A	SNV Germline	Chr1:46194843	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy Ovarian serous cystadenocarcinoma	Criteria Provided Multiple Submitters No Conflicts	CA116563	rs_386834035	6 SubmittersRCV000004206 RCV000050018 RCV003466805 RCV002512741 RCV005887283
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)	SNV Germline	Chr1:46192168	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscle eye brain disease Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Condition: not provided Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 POMGNT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA116564	rs_267606960	11 SubmittersRCV000004207 RCV000411094 RCV000798530 RCV001091843 RCV002476922 RCV002512742 RCV003460424 RCV004532285
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His)	SNV Germline	Chr1:46194359	Conflicting classifications of pathogenicity	Muscle eye brain disease not specified Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76	Criteria Provided Conflicting Classifications	CA263935	rs_386834010	8 SubmittersRCV000049988 RCV000250383 RCV001045717 RCV005629902 RCV005430113 RCV005862959
NM_017739.4(POMGNT1):c.1285-2A>G	SNV Germline	Chr1:46192438	Pathogenic/Likely pathogenic	Muscle eye brain disease POMGNT1-related disorder Autosomal recessive limb-girdle muscular dystrophy type 2O Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA263941	rs_386834012	7 SubmittersRCV000049991 RCV000292476 RCV000375211 RCV000983991 RCV001853063 RCV002514260 RCV003460639
NM_017739.4(POMGNT1):c.1319T>G (p.Leu440Arg)	SNV Germline	Chr1:46192402	Likely pathogenic	Muscle eye brain disease	Criteria Provided Single Submitter	CA263942	rs_386834013	2 SubmittersRCV000049992
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg)	SNV Germline	Chr1:46192379	Conflicting classifications of pathogenicity	Muscle eye brain disease Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Condition: not provided Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76	Criteria Provided Conflicting Classifications	CA263945	rs_386834014	9 SubmittersRCV000049993 RCV001542551 RCV002514262 RCV003228903 RCV002514261 RCV003460640 RCV005025103
NM_017739.4(POMGNT1):c.1539+1G>A	SNV Germline	Chr1:46192097	Pathogenic	Muscle eye brain disease Condition: not provided POMGNT1-related disorder Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Retinitis pigmentosa 76 Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Myopathy caused by variation in POMGNT1 Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy type 2O Retinal dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive POMGNT1-related disorders Cervical cancer Malignant tumor of esophagus	Criteria Provided Multiple Submitters No Conflicts	CA234711	rs_138642840	28 SubmittersRCV000049995 RCV000153760 RCV000323217 RCV000501155 RCV000648199 RCV000983990 RCV000763345 RCV001030748 RCV001196668 RCV001269143 RCV002295277 RCV002470740 RCV002514263 RCV005357428 RCV004814990 RCV005025104 RCV006633891 RCV005890363 RCV005890362
NM_017739.4(POMGNT1):c.1539+1G>T	SNV Germline	Chr1:46192097	Pathogenic	Muscle eye brain disease Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA263949	rs_138642840	4 SubmittersRCV000049996 RCV002513695 RCV005430480
NM_017739.4(POMGNT1):c.1540-2A>G	SNV Unknown	Chr1:46190786	Likely pathogenic	Muscle eye brain disease	No Assertion Criteria Provided	CA263950	rs_386834016	1 SubmittersRCV000049997
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter)	SNV Germline	Chr1:46189901	Pathogenic	Muscle eye brain disease Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA263951	rs_386834018	7 SubmittersRCV000049999 RCV000818740 RCV002514264 RCV003460641 RCV005051746
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)	SNV Germline	Chr1:46189870	Pathogenic	Muscle eye brain disease Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA263954	rs_386834019	10 SubmittersRCV000050000 RCV000820354 RCV001542522 RCV002496725 RCV002514265 RCV004566907 RCV005632218
NM_017739.4(POMGNT1):c.1785+2T>G	SNV Unknown	Chr1:46189852	Likely pathogenic	Muscle eye brain disease	No Assertion Criteria Provided	CA263957	rs_386834020	1 SubmittersRCV000050001
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His)	SNV Germline	Chr1:46189539	Pathogenic/Likely pathogenic	Muscle eye brain disease Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76	Criteria Provided Multiple Submitters No Conflicts	CA263958	rs_267606962	9 SubmittersRCV000050002 RCV001269853 RCV001853064 RCV002513696 RCV003460642 RCV005016346
NM_017739.4(POMGNT1):c.1895+1G>A	SNV Germline	Chr1:46189457	Pathogenic/Likely pathogenic	Muscle eye brain disease Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA263963	rs_386834024	8 SubmittersRCV000050005 RCV000240866 RCV001043665 RCV001810415 RCV002513697 RCV004700352
NM_017739.4(POMGNT1):c.1896-1G>C	SNV Germline	Chr1:46189358	Likely pathogenic	Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA263966	rs_386834025	3 SubmittersRCV000050008 RCV003466918
NM_017739.4(POMGNT1):c.594C>G (p.Ser198Arg)	SNV Germline	Chr1:46194902	Likely pathogenic	Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA263975	rs_386834032	2 SubmittersRCV000050015 RCV005406792
NM_017739.4(POMGNT1):c.630G>T (p.Trp210Cys)	SNV Germline	Chr1:46194866	Pathogenic/Likely pathogenic	Muscle eye brain disease Condition: not provided	No Assertion Criteria Provided	CA263978	rs_386834033	3 SubmittersRCV000050016 RCV001528958
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)	SNV Germline	Chr1:46194853	Pathogenic	Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Condition: not provided Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Multiple Submitters No Conflicts	CA263981	rs_386834034	11 SubmittersRCV000050017 RCV000408610 RCV000578838 RCV000984295 RCV001062800 RCV000984294 RCV002272048 RCV003460643 RCV005016347
NM_017739.4(POMGNT1):c.667G>A (p.Glu223Lys)	SNV Germline	Chr1:46194637	Conflicting classifications of pathogenicity	Muscle eye brain disease Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Condition: not provided	Criteria Provided Conflicting Classifications	CA263984	rs_386834036	5 SubmittersRCV000050019 RCV002514268 RCV003466919 RCV005639077
NM_017739.4(POMGNT1):c.806G>A (p.Cys269Tyr)	SNV Unknown	Chr1:46194347	Likely pathogenic	Muscle eye brain disease	No Assertion Criteria Provided	CA263987	rs_386834037	1 SubmittersRCV000050020
NM_017739.4(POMGNT1):c.879+5G>A	SNV Germline	Chr1:46194269	Likely pathogenic	Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA263990	rs_386834038	3 SubmittersRCV000050021 RCV003460644
NM_017739.4(POMGNT1):c.879+5G>T	SNV Germline	Chr1:46194269	Likely pathogenic	Muscle eye brain disease Muscular dystrophy-dystroglycanopathy	Criteria Provided Single Submitter	CA263991	rs_386834038	2 SubmittersRCV000050022 RCV002513700
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)	SNV Germline	Chr1:46193874	Pathogenic	Muscle eye brain disease Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76	Criteria Provided Multiple Submitters No Conflicts	CA223256	rs_386834039	9 SubmittersRCV000050023 RCV000081807 RCV000984300 RCV000984204 RCV001039421 RCV000984205 RCV003466920 RCV005016348
NM_017739.4(POMGNT1):c.236-13T>C	SNV Germline	Chr1:46196862	Conflicting classifications of pathogenicity	not specified Condition: not provided Congenital Muscular Dystrophy, alpha-dystroglycan related Autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA148806	rs_150578902	5 SubmittersRCV000081802 RCV000828431 RCV001101654 RCV001101653 RCV001521834
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)	SNV Germline	Chr1:46196784	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2O Congenital Muscular Dystrophy, alpha-dystroglycan related Muscle eye brain disease Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 POMGNT1-related disorder	Criteria Provided Conflicting Classifications	CA148807	rs_150576537	14 SubmittersRCV000081803 RCV000312026 RCV000369008 RCV000667593 RCV000710196 RCV001079365 RCV001449947 RCV004528294
NM_017739.4(POMGNT1):c.582G>A (p.Arg194=)	SNV Germline	Chr1:46194914	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA223252	rs_398124309	2 SubmittersRCV000081804 RCV001398919
NM_017739.4(POMGNT1):c.-11G>A	SNV Germline	Chr1:46197832	Conflicting classifications of pathogenicity	not specified Congenital Muscular Dystrophy, alpha-dystroglycan related Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Conflicting Classifications	CA292891	rs_80107141	3 SubmittersRCV000127571 RCV001097959 RCV001097960
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)	SNV Germline	Chr1:46194314	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscle eye brain disease Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Inborn genetic diseases POMGNT1-related disorder	Criteria Provided Conflicting Classifications	CA295419	rs_142485035	10 SubmittersRCV000150000 RCV000725700 RCV000763935 RCV001083649 RCV001333960 RCV002514874 RCV004732704
NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser)	SNV Germline	Chr1:46196766	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscle eye brain disease Muscle eye brain disease Condition: not provided	Criteria Provided Conflicting Classifications	CA295425	rs_375420073	4 SubmittersRCV000648197 RCV000763937 RCV001272275 RCV003129788
NM_017739.4(POMGNT1):c.1490G>A (p.Arg497Gln)	SNV Germline	Chr1:46192147	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy Retinal dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76	Criteria Provided Conflicting Classifications	CA234712	rs_573518562	6 SubmittersRCV000153761 RCV000622475 RCV002516092 RCV002516093 RCV003888594 RCV005025233
NM_017739.4(POMGNT1):c.1831C>T (p.Leu611=)	SNV Germline	Chr1:46189522	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscle eye brain disease POMGNT1-related disorder	Criteria Provided Conflicting Classifications	CA234708	rs_367848204	4 SubmittersRCV000153759 RCV001083116 RCV001826827 RCV004532732
NM_017739.4(POMGNT1):c.87G>A (p.Leu29=)	SNV Germline	Chr1:46197735	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA241695	rs_794727291	2 SubmittersRCV000175881 RCV001432865
NM_017739.4(POMGNT1):c.421-7C>A	SNV Germline	Chr1:46195931	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2O Congenital Muscular Dystrophy, alpha-dystroglycan related Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscle eye brain disease POMGNT1-related disorder Chronic lymphocytic leukemia/small lymphocytic lymphoma Lung cancer Ovarian serous cystadenocarcinoma	Criteria Provided Conflicting Classifications	CA246764	rs_189274856	11 SubmittersRCV000179495 RCV000263792 RCV000356295 RCV000724803 RCV001081913 RCV001277259 RCV004539682 RCV005892033 RCV005892032 RCV005892031
NM_017739.4(POMGNT1):c.549C>T (p.Phe183=)	SNV Germline	Chr1:46194947	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscle eye brain disease POMGNT1-related disorder	Criteria Provided Conflicting Classifications	CA247294	rs_140724142	5 SubmittersRCV000179953 RCV000724831 RCV001088969 RCV001275754 RCV004537498
NM_017739.4(POMGNT1):c.1413+1G>C	SNV Germline	Chr1:46192307	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy	Criteria Provided Conflicting Classifications	CA205174	rs_587777821	2 SubmittersRCV000192386 RCV002517120
NM_017739.4(POMGNT1):c.1285-6C>T	SNV Germline	Chr1:46192442	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscle eye brain disease Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Conflicting Classifications	CA208497	rs_377292905	4 SubmittersRCV000194367 RCV000814493 RCV001828017 RCV003338456
NM_017739.4(POMGNT1):c.38T>C (p.Phe13Ser)	SNV Germline	Chr1:46197784	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Congenital Muscular Dystrophy, alpha-dystroglycan related Muscle eye brain disease Retinal dystrophy	Criteria Provided Conflicting Classifications	CA209243	rs_377724143	9 SubmittersRCV000194818 RCV000727160 RCV000813907 RCV001096217 RCV001096216 RCV001275759 RCV004816323
NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser)	SNV Germline	Chr1:46194293	Conflicting classifications of pathogenicity	Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Condition: not provided not specified Muscle eye brain disease	Criteria Provided Conflicting Classifications	CA833593	rs_200863680	6 SubmittersRCV000240954 RCV001333961 RCV001854940 RCV003133196 RCV003479082 RCV006640514
NM_017739.4(POMGNT1):c.466G>A (p.Glu156Lys)	SNV Germline	Chr1:46195879	Pathogenic	Retinitis pigmentosa 76	No Assertion Criteria Provided	CA10586396	rs_886037947	1 SubmittersRCV000240928
NM_017739.4(POMGNT1):c.1505G>C (p.Gly502Ala)	SNV Germline	Chr1:46192132	Pathogenic	Retinitis pigmentosa 76	No Assertion Criteria Provided	CA10586397	rs_886037948	1 SubmittersRCV000240894
NM_017739.4(POMGNT1):c.359T>G (p.Leu120Arg)	SNV Germline	Chr1:46196073	Pathogenic	Retinitis pigmentosa 76	No Assertion Criteria Provided	CA10586398	rs_886037949	1 SubmittersRCV000240931
NM_017739.4(POMGNT1):c.120+13C>T	SNV Germline	Chr1:46197689	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2O Congenital Muscular Dystrophy, alpha-dystroglycan related Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Condition: not provided	Criteria Provided Conflicting Classifications	CA833878	rs_12737140	8 SubmittersRCV000245127 RCV000283595 RCV000340979 RCV001509905 RCV001700020
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)	SNV Germline	Chr1:46194860	Pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Retinitis pigmentosa 76 Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA833669	rs_190057175	11 SubmittersRCV000255207 RCV000695969 RCV000984296 RCV000984297 RCV000984298 RCV000984299 RCV002500958 RCV003155140 RCV002518761 RCV003463717
NM_017739.4(POMGNT1):c.1895C>G (p.Ser632Ter)	SNV Germline	Chr1:46189458	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy	Criteria Provided Conflicting Classifications	CA10602829	rs_200471699	3 SubmittersRCV000384080 RCV002519069 RCV005411398
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)	SNV Germline	Chr1:46192127	Conflicting classifications of pathogenicity	Congenital Muscular Dystrophy, alpha-dystroglycan related not specified Autosomal recessive limb-girdle muscular dystrophy type 2O Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscle eye brain disease	Criteria Provided Conflicting Classifications	CA833347	rs_17102066	11 SubmittersRCV000268124 RCV000267239 RCV000354770 RCV000548277 RCV001084521 RCV001333958 RCV001833303
NM_017739.4(POMGNT1):c.1077T>C (p.Thr359=)	SNV Germline	Chr1:46193338	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Conflicting Classifications	CA10603980	rs_886042244	2 SubmittersRCV000270489 RCV001491033
NM_017739.4(POMGNT1):c.355-9A>G	SNV Germline	Chr1:46196086	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA10604177	rs_886042396	2 SubmittersRCV000395745 RCV002059109
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=)	SNV Germline	Chr1:46195859	Conflicting classifications of pathogenicity	Congenital Muscular Dystrophy, alpha-dystroglycan related Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscle eye brain disease	Criteria Provided Conflicting Classifications	CA833717	rs_138330966	6 SubmittersRCV000298962 RCV000386165 RCV000395975 RCV001079550 RCV001833327
NM_017739.4(POMGNT1):c.1111-6T>C	SNV Germline	Chr1:46193221	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA833485	rs_751751349	2 SubmittersRCV000306178 RCV002059133
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=)	SNV Germline	Chr1:46193630	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2O Congenital Muscular Dystrophy, alpha-dystroglycan related not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscle eye brain disease	Criteria Provided Conflicting Classifications	CA833545	rs_146933218	8 SubmittersRCV000295933 RCV000343795 RCV000385748 RCV000725556 RCV001081570 RCV001277253
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr)	SNV Germline	Chr1:46193580	Conflicting classifications of pathogenicity	Condition: not provided Muscle eye brain disease Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Inborn genetic diseases Retinal dystrophy Muscular dystrophy-dystroglycanopathy Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA833537	rs_138745073	9 SubmittersRCV000324220 RCV000763934 RCV001855150 RCV002518961 RCV003888676 RCV005411399 RCV005016672
NM_017739.4(POMGNT1):c.1050G>T (p.Leu350=)	SNV Germline	Chr1:46193365	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA10605078	rs_886043076	2 SubmittersRCV000337960 RCV002059173
NM_017739.4(POMGNT1):c.1476C>A (p.Ile492=)	SNV Germline	Chr1:46192161	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA833356	rs_375432782	3 SubmittersRCV000295348 RCV001467579
NM_017739.4(POMGNT1):c.396T>C (p.His132=)	SNV Germline	Chr1:46196036	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA10605486	rs_886043409	2 SubmittersRCV000303433 RCV001434684
NM_017739.4(POMGNT1):c.1536T>C (p.Phe512=)	SNV Germline	Chr1:46192101	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA833341	rs_367596859	2 SubmittersRCV000378371 RCV001417068
NM_017739.4(POMGNT1):c.1454G>A (p.Arg485His)	SNV Germline	Chr1:46192183	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Condition: not provided Muscle eye brain disease Retinal dystrophy	Criteria Provided Conflicting Classifications	CA833367	rs_544816408	7 SubmittersRCV000559267 RCV000407481 RCV001277250 RCV004816507
NM_017739.4(POMGNT1):c.266G>A (p.Arg89Gln)	SNV Germline	Chr1:46196819	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscle eye brain disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA833805	rs_200042607	4 SubmittersRCV000292083 RCV001057584 RCV001272276 RCV002521993
NM_017739.4(POMGNT1):c.1923A>C (p.Pro641=)	SNV Germline	Chr1:46189330	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Conflicting Classifications	CA10606162	rs_886043958	3 SubmittersRCV000362367 RCV001085021
NM_017739.4(POMGNT1):c.444G>A (p.Val148=)	SNV Germline	Chr1:46195901	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Conflicting Classifications	CA833722	rs_142016718	2 SubmittersRCV000325355 RCV001477716
NM_017739.4(POMGNT1):c.269G>A (p.Arg90His)	SNV Germline	Chr1:46196816	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscle eye brain disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA833803	rs_139701867	7 SubmittersRCV000407599 RCV000524954 RCV000763938 RCV001275757 RCV002518127
NM_017739.4(POMGNT1):c.652+6G>A	SNV Germline	Chr1:46194838	Conflicting classifications of pathogenicity	not specified Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Conflicting Classifications	CA833664	rs_369289384	4 SubmittersRCV000287773 RCV000726485 RCV001242504
NM_017739.4(POMGNT1):c.1284+9G>C	SNV Germline	Chr1:46192509	Conflicting classifications of pathogenicity	not specified Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscle eye brain disease POMGNT1-related disorder	Criteria Provided Conflicting Classifications	CA833417	rs_565797493	5 SubmittersRCV000346335 RCV000726491 RCV001079134 RCV001833408 RCV004543139
NM_017739.4(POMGNT1):c.1813C>T (p.Arg605Cys)	SNV Germline	Chr1:46189540	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O not specified	Criteria Provided Conflicting Classifications	CA10606918	rs_886044567	3 SubmittersRCV000397961 RCV001859723 RCV005418058
NM_017739.4(POMGNT1):c.1540-6C>T	SNV Germline	Chr1:46190790	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2O Congenital Muscular Dystrophy, alpha-dystroglycan related Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscle eye brain disease	Criteria Provided Conflicting Classifications	CA833317	rs_770449394	3 SubmittersRCV000303249 RCV000358125 RCV000877564 RCV001833425
NM_017739.4(POMGNT1):c.*451C>T	SNV Germline	Chr1:46188819	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2O Congenital Muscular Dystrophy, alpha-dystroglycan related Condition: not provided	Criteria Provided Conflicting Classifications	CA833137	rs_148903585	3 SubmittersRCV000296026 RCV000350895 RCV002244746
NM_017739.4(POMGNT1):c.129C>T (p.Ala43=)	SNV Germline	Chr1:46197076	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2O Congenital Muscular Dystrophy, alpha-dystroglycan related Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA833846	rs_138950267	3 SubmittersRCV000270884 RCV000381350 RCV000732410 RCV001088107
NM_017739.4(POMGNT1):c.1786-2A>G	SNV Germline	Chr1:46189569	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscle eye brain disease	Criteria Provided Single Submitter	CA16040742	rs_1057517340	2 SubmittersRCV005430340 RCV006640592
NM_017739.4(POMGNT1):c.880-2A>G	SNV Unknown	Chr1:46193927	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	No Assertion Criteria Provided	CA16040751	rs_1057516830	1 SubmittersRCV005430324
NM_017739.4(POMGNT1):c.879+2T>C	SNV Unknown	Chr1:46194272	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	No Assertion Criteria Provided	CA16040752	rs_1057516318	1 SubmittersRCV005430292
NM_017739.4(POMGNT1):c.354+1G>A	SNV Unknown	Chr1:46196730	Likely pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Lung cancer	No Assertion Criteria Provided	CA16040755	rs_1057517449	3 SubmittersRCV002281641 RCV005430347 RCV005900641
NM_017739.4(POMGNT1):c.236-1G>T	SNV Germline	Chr1:46196850	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Multiple Submitters No Conflicts	CA16040756	rs_1057516477	4 SubmittersRCV001377077 RCV003463789 RCV005018701
NM_017739.4(POMGNT1):c.121-2A>G	SNV Unknown	Chr1:46197086	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	No Assertion Criteria Provided	CA16040758	rs_1057516871	1 SubmittersRCV005430326
NM_017739.4(POMGNT1):c.698C>T (p.Ser233Phe)	SNV Germline	Chr1:46194606	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Congenital Muscular Dystrophy, alpha-dystroglycan related POMGNT1-related disorder	Criteria Provided Conflicting Classifications	CA833641	rs_569061665	4 SubmittersRCV000413042 RCV000873590 RCV001096117 RCV001096118 RCV004544726
NM_017739.4(POMGNT1):c.314C>G (p.Ser105Ter)	SNV Germline	Chr1:46196771	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16603663	rs_1057522013	1 SubmittersRCV000428665
NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln)	SNV Germline	Chr1:46192174	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Conflicting Classifications	CA833361	rs_766382416	4 SubmittersRCV000479982 RCV000984208 RCV000984207 RCV000984209 RCV001368114 RCV002525910 RCV005430538
NM_017739.4(POMGNT1):c.251G>A (p.Arg84His)	SNV Germline	Chr1:46196834	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscle eye brain disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA833808	rs_373866304	6 SubmittersRCV000521285 RCV000540487 RCV001829507 RCV004659083
NM_017739.4(POMGNT1):c.386G>A (p.Arg129Gln)	SNV Germline	Chr1:46196046	Conflicting classifications of pathogenicity	Muscle eye brain disease Condition: not provided Muscular dystrophy-dystroglycanopathy Autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA833755	rs_770188918	5 SubmittersRCV001834803 RCV000591176 RCV002530069 RCV001200051 RCV000554424
NM_017739.4(POMGNT1):c.1167T>C (p.Ala389=)	SNV Germline	Chr1:46192944	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Condition: not provided	Criteria Provided Conflicting Classifications	CA21913005	rs_183698543	2 SubmittersRCV000530635 RCV000732506
NM_017739.4(POMGNT1):c.1786-6C>T	SNV Germline	Chr1:46189573	Conflicting classifications of pathogenicity	Condition: not provided Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O not specified	Criteria Provided Conflicting Classifications	CA833227	rs_202028128	4 SubmittersRCV000596002 RCV001275229 RCV001484669 RCV001662641
NM_017739.4(POMGNT1):c.880-4A>C	SNV Germline	Chr1:46193929	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Conflicting Classifications	CA658795456	rs_1553163534	2 SubmittersRCV000591029 RCV001867944
NM_017739.4(POMGNT1):c.1464A>G (p.Arg488=)	SNV Germline	Chr1:46192173	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Conflicting Classifications	CA417886159	rs_1157887321	2 SubmittersRCV000592225 RCV001480439
NM_017739.4(POMGNT1):c.1683T>C (p.Pro561=)	SNV Germline	Chr1:46189956	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA417717888	rs_1246120938	2 SubmittersRCV000595995 RCV001499773
NM_017739.4(POMGNT1):c.6C>T (p.Asp2=)	SNV Germline	Chr1:46197816	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA417720818	rs_375238770	2 SubmittersRCV000595917 RCV001485687
NM_017739.4(POMGNT1):c.426C>T (p.His142=)	SNV Germline	Chr1:46195919	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA833727	rs_374384310	2 SubmittersRCV000594088 RCV001455553
NM_017739.4(POMGNT1):c.1738C>A (p.Arg580=)	SNV Germline	Chr1:46189901	Conflicting classifications of pathogenicity	Condition: not provided Congenital Muscular Dystrophy, alpha-dystroglycan related Autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA21910635	rs_386834018	3 SubmittersRCV000592161 RCV001097777 RCV001097778 RCV002532545
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=)	SNV Germline	Chr1:46190728	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 not specified Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscle eye brain disease POMGNT1-related disorder	Criteria Provided Conflicting Classifications	CA833311	rs_200730202	6 SubmittersRCV000592757 RCV001088509 RCV001288362 RCV001449648 RCV001835873 RCV004530719
NM_017739.4(POMGNT1):c.453G>A (p.Thr151=)	SNV Germline	Chr1:46195892	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA833721	rs_146121135	5 SubmittersRCV000731258 RCV001088027
NM_017739.4(POMGNT1):c.120+4T>C	SNV Germline	Chr1:46197698	Conflicting classifications of pathogenicity	not specified Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA522582548	rs_1223030962	2 SubmittersRCV000612085 RCV001860355
NM_017739.4(POMGNT1):c.1099C>T (p.Arg367Cys)	SNV Germline	Chr1:46193316	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscle eye brain disease Muscular dystrophy-dystroglycanopathy	Criteria Provided Conflicting Classifications	CA833501	rs_36038536	3 SubmittersRCV000648205 RCV001835049 RCV005411526
NM_017739.4(POMGNT1):c.1895+1G>C	SNV Germline	Chr1:46189457	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA340170649	rs_386834024	2 SubmittersRCV002531334 RCV005430757
NM_017739.4(POMGNT1):c.1604+1G>A	SNV Germline	Chr1:46190719	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA340172288	rs_1553162873	2 SubmittersRCV001855497 RCV005430592
NM_017739.4(POMGNT1):c.880-1G>A	SNV Germline	Chr1:46193926	Pathogenic/Likely pathogenic	Muscle eye brain disease Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 POMGNT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA340182157	rs_1317832573	7 SubmittersRCV000667582 RCV001855483 RCV003230564 RCV003459586 RCV004723051
NM_017739.4(POMGNT1):c.1786-1G>A	SNV Germline	Chr1:46189568	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA340171125	rs_1457667479	2 SubmittersRCV003767958 RCV005430571
NM_017739.4(POMGNT1):c.1649+2T>G	SNV Germline	Chr1:46190471	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Multiple Submitters No Conflicts	CA340171728	rs_1268759044	3 SubmittersRCV003459601 RCV003767967
NM_017739.4(POMGNT1):c.1605-1G>C	SNV Germline	Chr1:46190518	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscle eye brain disease	Criteria Provided Multiple Submitters No Conflicts	CA340171852	rs_770219373	4 SubmittersRCV003465500 RCV003767988 RCV006642411
NM_017739.4(POMGNT1):c.1152+2T>C	SNV Germline	Chr1:46193172	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76 Gastric cancer Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Multiple Submitters No Conflicts	CA340179317	rs_1553163335	6 SubmittersRCV003465534 RCV004584792 RCV005019164 RCV005901507 RCV006556528
NM_017739.4(POMGNT1):c.1852A>T (p.Lys618Ter)	SNV Germline	Chr1:46189501	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA340170853	rs_1553162663	2 SubmittersRCV002530722 RCV005430572
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)	SNV Germline	Chr1:46192124	Conflicting classifications of pathogenicity	Muscle eye brain disease Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinal dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Condition: not provided	Criteria Provided Conflicting Classifications	CA833345	rs_760705290	10 SubmittersRCV000668943 RCV001247989 RCV001731868 RCV001809739 RCV002531215 RCV003459603 RCV003889953 RCV005027798 RCV005409712
NM_017739.4(POMGNT1):c.1604+2T>C	SNV Unknown	Chr1:46190718	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA340172275	rs_1553162872	2 SubmittersRCV004568495
NM_017739.4(POMGNT1):c.1212-1G>C	SNV Unknown	Chr1:46192591	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	No Assertion Criteria Provided	CA340177032	rs_1553163254	1 SubmittersRCV005430416
NM_017739.4(POMGNT1):c.794G>C (p.Arg265Pro)	SNV Germline	Chr1:46194359	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA340183190	rs_386834010	2 SubmittersRCV004702308 RCV005430818
NM_017739.4(POMGNT1):c.458C>G (p.Ser153Ter)	SNV Germline	Chr1:46195887	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA21917575	rs_1048865247	3 SubmittersRCV001861750 RCV003465446
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)	SNV Germline	Chr1:46196047	Pathogenic/Likely pathogenic	Muscle eye brain disease Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76	Criteria Provided Multiple Submitters No Conflicts	CA833756	rs_375431575	10 SubmittersRCV000674794 RCV001200334 RCV001244825 RCV001788317 RCV001810481 RCV002531361 RCV005019166
NM_017739.4(POMGNT1):c.879+1G>C	SNV Unknown	Chr1:46194273	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	No Assertion Criteria Provided	CA340182328	rs_1553163590	1 SubmittersRCV005430385
NM_017739.4(POMGNT1):c.653-2A>C	SNV Germline	Chr1:46194653	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA340184815	rs_1553163721	2 SubmittersRCV002532050 RCV005430433
NM_017739.4(POMGNT1):c.1697T>C (p.Phe566Ser)	SNV Germline	Chr1:46189942	Conflicting classifications of pathogenicity	Muscle eye brain disease Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Condition: not provided	Criteria Provided Conflicting Classifications	CA833260	rs_765906814	3 SubmittersRCV001277249 RCV000693960 RCV005623359
NM_017739.4(POMGNT1):c.99G>T (p.Arg33=)	SNV Germline	Chr1:46197723	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Conflicting Classifications	CA833885	rs_767852518	2 SubmittersRCV000732025 RCV001489238
NM_017739.4(POMGNT1):c.1786-9C>T	SNV Germline	Chr1:46189576	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA21910428	rs_961913683	2 SubmittersRCV000733317 RCV002067150
NM_017739.4(POMGNT1):c.1287G>C (p.Gly429=)	SNV Germline	Chr1:46192434	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA417886269	rs_1263918453	2 SubmittersRCV000733856 RCV001414472
NM_017739.4(POMGNT1):c.1650-4G>A	SNV Germline	Chr1:46189993	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA913189312	rs_1557669478	2 SubmittersRCV000734084 RCV003768240
NM_017739.4(POMGNT1):c.991C>T (p.Gln331Ter)	SNV Germline	Chr1:46193599	Pathogenic/Likely pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA340180874	rs_1557673817	3 SubmittersRCV000760851 RCV002533851 RCV003465680
NM_017739.4(POMGNT1):c.751+1G>A	SNV Germline	Chr1:46194552	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340183667	rs_1247668825	4 SubmittersRCV002536739 RCV003465709 RCV005021162 RCV005051826
NM_017739.4(POMGNT1):c.1526A>G (p.Asn509Ser)	SNV Germline	Chr1:46192111	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA340173082	rs_1557671443	1 SubmittersRCV000782030
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter)	SNV Germline	Chr1:46192175	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscle eye brain disease Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA833362	rs_727504103	8 SubmittersRCV000823735 RCV002535998 RCV003326497 RCV003461286 RCV005253648 RCV006642678 RCV001266791 RCV006450360
NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter)	SNV Germline	Chr1:46195834	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscle eye brain disease	Criteria Provided Multiple Submitters No Conflicts	CA340188042	rs_1424631447	4 SubmittersRCV000803088 RCV002534735 RCV003461142 RCV005606711
NM_017739.4(POMGNT1):c.7G>T (p.Asp3Tyr)	SNV Germline	Chr1:46197815	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscle eye brain disease Condition: not provided	Criteria Provided Conflicting Classifications	CA833898	rs_201637813	3 SubmittersRCV000819640 RCV001830799 RCV003132101
NM_017739.4(POMGNT1):c.652+1G>T	SNV Germline	Chr1:46194843	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscle eye brain disease Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Multiple Submitters No Conflicts	CA21916937	rs_386834035	7 SubmittersRCV000796490 RCV001275751 RCV001508865 RCV003461088 RCV005029460
NM_017739.4(POMGNT1):c.796C>T (p.Arg266Trp)	SNV Germline	Chr1:46194357	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscle eye brain disease Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA833601	rs_200363064	5 SubmittersRCV000876799 RCV001277255 RCV001508864 RCV003890001
NM_017739.4(POMGNT1):c.420G>A (p.Thr140=)	SNV Germline	Chr1:46196012	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Congenital Muscular Dystrophy, alpha-dystroglycan related Muscle eye brain disease Retinal dystrophy POMGNT1-related disorder	Criteria Provided Conflicting Classifications	CA833742	rs_146237009	5 SubmittersRCV000950279 RCV001097865 RCV001097866 RCV001272274 RCV003890103 RCV004543562
NM_017739.4(POMGNT1):c.1482C>T (p.Asp494=)	SNV Germline	Chr1:46192155	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy type 2O Congenital Muscular Dystrophy, alpha-dystroglycan related	Criteria Provided Conflicting Classifications	CA833353	rs_769213562	2 SubmittersRCV000903844 RCV001099570 RCV001099571
NM_017739.4(POMGNT1):c.1268C>T (p.Ser423Phe)	SNV Unknown	Chr1:46192534	Likely pathogenic	Muscle eye brain disease	Criteria Provided Single Submitter	CA340176415	rs_1571655768	1 SubmittersRCV000986314
NM_017739.4(POMGNT1):c.1814G>T (p.Arg605Leu)	SNV Germline	Chr1:46189539	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Single Submitter	CA340171027	rs_267606962	1 SubmittersRCV001047810
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)	SNV Germline	Chr1:46192396	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy type 2O Retinitis pigmentosa 76 Muscle eye brain disease	Criteria Provided Multiple Submitters No Conflicts	CA833406	rs_150877512	9 SubmittersRCV001092676 RCV001175511 RCV001376853 RCV001810495 RCV002554853 RCV005021438 RCV006636633
NM_017739.4(POMGNT1):c.*221G>A	SNV Germline	Chr1:46189049	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2O Congenital Muscular Dystrophy, alpha-dystroglycan related Condition: not provided	Criteria Provided Conflicting Classifications	CA21910130	rs_181362801	2 SubmittersRCV001101456 RCV001101455 RCV001555059
NM_017739.4(POMGNT1):c.*34G>A	SNV Germline	Chr1:46189236	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2O Congenital Muscular Dystrophy, alpha-dystroglycan related Condition: not provided POMGNT1-related disorder	Criteria Provided Conflicting Classifications	CA833170	rs_200540049	4 SubmittersRCV001095993 RCV001101459 RCV003456471 RCV004545053
NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg)	SNV Germline	Chr1:46189464	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2O Congenital Muscular Dystrophy, alpha-dystroglycan related Muscle eye brain disease Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA833208	rs_747723242	5 SubmittersRCV001095994 RCV001095995 RCV001277591 RCV002069619 RCV003132226 RCV003890235
NM_017739.4(POMGNT1):c.1878C>T (p.Val626=)	SNV Germline	Chr1:46189475	Conflicting classifications of pathogenicity	Congenital Muscular Dystrophy, alpha-dystroglycan related Autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA1139656118	rs_1657570765	2 SubmittersRCV001095997 RCV001095996 RCV002069620
NM_017739.4(POMGNT1):c.752-15G>A	SNV Germline	Chr1:46194416	Conflicting classifications of pathogenicity	Congenital Muscular Dystrophy, alpha-dystroglycan related Autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA833615	rs_368317059	2 SubmittersRCV001096115 RCV001096116 RCV001440335
NM_017739.4(POMGNT1):c.121-6C>A	SNV Germline	Chr1:46197090	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2O Congenital Muscular Dystrophy, alpha-dystroglycan related Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA1139656113	rs_558052679	2 SubmittersRCV001096215 RCV001096214 RCV001873465
NM_017739.4(POMGNT1):c.1282C>T (p.Gln428Ter)	SNV Germline	Chr1:46192520	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Single Submitter	CA340176183	rs_1657864516	1 SubmittersRCV001245885
NM_017739.4(POMGNT1):c.1285-2A>T	SNV Germline	Chr1:46192438	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Single Submitter	CA340176071	rs_386834012	1 SubmittersRCV001234616
NM_017739.4(POMGNT1):c.1153-1G>C	SNV Germline	Chr1:46192959	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Single Submitter	CA340179236	rs_1657900739	1 SubmittersRCV001228164
NM_017739.4(POMGNT1):c.120+2T>A	SNV Germline	Chr1:46197700	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340192535	rs_1658353874	4 SubmittersRCV001229087 RCV001828829 RCV004570569 RCV005630892
NM_017739.4(POMGNT1):c.304G>T (p.Glu102Ter)	SNV Germline	Chr1:46196781	Pathogenic	Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA340191630	rs_749603354	3 SubmittersRCV001265639 RCV002537679 RCV003462842
NM_017739.4(POMGNT1):c.1832T>C (p.Leu611Pro)	SNV Germline	Chr1:46189521	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA340170960	rs_1352149832	2 SubmittersRCV001268425 RCV004699250
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His)	SNV Germline	Chr1:46193315	Conflicting classifications of pathogenicity	Intellectual disability Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy type B6 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy Muscle eye brain disease Myopathy caused by variation in POMGNT1	Criteria Provided Conflicting Classifications	CA833500	rs_762972459	9 SubmittersRCV001293357 RCV001760332 RCV001810503 RCV001859239 RCV003448390 RCV005029861 RCV002538420 RCV006636804 RCV006695042
NM_017739.4(POMGNT1):c.1813C>A (p.Arg605Ser)	SNV Germline	Chr1:46189540	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Multiple Submitters No Conflicts	CA340171031	rs_886044567	3 SubmittersRCV001378149 RCV004587149 RCV005014515
NM_017739.4(POMGNT1):c.1649+1G>A	SNV Germline	Chr1:46190472	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Conflicting Classifications	CA833286	rs_752700398	3 SubmittersRCV001378427 RCV002550248 RCV005023125
NM_017739.4(POMGNT1):c.1605-2A>T	SNV Germline	Chr1:46190519	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Single Submitter	CA340171853	rs_2148172518	1 SubmittersRCV001378957
NM_017739.4(POMGNT1):c.1110+1G>A	SNV Germline	Chr1:46193304	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 POMGNT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA340179685	rs_1657940058	3 SubmittersRCV001377208 RCV003462946 RCV004531186
NM_017739.4(POMGNT1):c.235+2T>C	SNV Germline	Chr1:46196968	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Single Submitter	CA340191797	rs_2148218654	1 SubmittersRCV001377653
NM_017739.4(POMGNT1):c.595C>T (p.Gln199Ter)	SNV Germline	Chr1:46194901	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Single Submitter	CA340186900	rs_908815575	1 SubmittersRCV001385029
NM_017739.4(POMGNT1):c.1070A>T (p.Gln357Leu)	SNV Germline	Chr1:46193345	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Condition: not provided	Criteria Provided Conflicting Classifications	CA833504	rs_374871234	2 SubmittersRCV001396196 RCV005635152
NM_017739.4(POMGNT1):c.1788C>T (p.Cys596=)	SNV Germline	Chr1:46189565	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Condition: not provided	Criteria Provided Conflicting Classifications	CA833225	rs_376973640	2 SubmittersRCV001459630 RCV004812410
NM_017739.4(POMGNT1):c.74G>A (p.Trp25Ter)	SNV Germline	Chr1:46197748	Pathogenic	Abnormality of the nervous system Hydrocephalus	Criteria Provided Multiple Submitters No Conflicts	CA340192803	rs_1475539242	2 SubmittersRCV001814461 RCV002466682
NM_017739.4(POMGNT1):c.1453C>T (p.Arg485Cys)	SNV Germline	Chr1:46192184	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Retinal dystrophy not specified	Criteria Provided Conflicting Classifications	CA833368	rs_755588045	6 SubmittersRCV001565992 RCV002568438 RCV001859407 RCV003888304 RCV004770175
NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser)	SNV Germline	Chr1:46193903	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Condition: not provided	Criteria Provided Conflicting Classifications	CA833573	rs_754653320	3 SubmittersRCV001578929 RCV001578930 RCV001578931 RCV001578932 RCV002570817 RCV005635181
NM_017739.4(POMGNT1):c.621G>T (p.Arg207Ser)	SNV Germline	Chr1:46194875	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA833672	rs_763146463	1 SubmittersRCV001752959
NM_017739.4(POMGNT1):c.1623T>G (p.Tyr541Ter)	SNV Germline	Chr1:46190499	Pathogenic/Likely pathogenic	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Multiple Submitters No Conflicts	CA340171807	rs_746196856	2 SubmittersRCV001782671 RCV001868866
NM_017739.4(POMGNT1):c.935C>T (p.Pro312Leu)	SNV Germline	Chr1:46193870	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases not specified Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Conflicting Classifications	CA340181479	rs_2148196270	4 SubmittersRCV001837090 RCV004041015 RCV005409025 RCV005225519
NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter)	SNV Germline	Chr1:46192148	Conflicting classifications of pathogenicity	Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinal dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscle eye brain disease	Criteria Provided Conflicting Classifications	CA833352	rs_745343484	7 SubmittersRCV001837127 RCV002034696 RCV002542791 RCV003464155 RCV003888327 RCV005023271 RCV006638978
NM_017739.4(POMGNT1):c.1212-1G>A	SNV Germline	Chr1:46192591	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Single Submitter	CA340177033	rs_1553163254	1 SubmittersRCV002012584
NM_017739.4(POMGNT1):c.880-1G>C	SNV Germline	Chr1:46193926	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinal dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Muscle eye brain disease	Criteria Provided Multiple Submitters No Conflicts	CA340182154	rs_1317832573	6 SubmittersRCV002036661 RCV002550498 RCV003464404 RCV004816946 RCV005025683 RCV006640881
NM_017739.4(POMGNT1):c.1785+1G>A	SNV Germline	Chr1:46189853	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340171168	rs_2148166435	3 SubmittersRCV002010685 RCV005025619 RCV006275105
NM_017739.4(POMGNT1):c.1605-1G>T	SNV Germline	Chr1:46190518	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Single Submitter	CA340171851	rs_770219373	1 SubmittersRCV002017559
NM_017739.4(POMGNT1):c.879A>C (p.Pro293=)	SNV Germline	Chr1:46194274	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Condition: not provided POMGNT1-related disorder	Criteria Provided Conflicting Classifications	CA833590	rs_776248221	3 SubmittersRCV001980125 RCV003408000 RCV004538674
NM_017739.4(POMGNT1):c.1841T>A (p.Leu614Ter)	SNV Germline	Chr1:46189512	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Single Submitter	CA340170913	rs_1364587778	1 SubmittersRCV001930101
NM_017739.4(POMGNT1):c.617G>A (p.Trp206Ter)	SNV Germline	Chr1:46194879	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Multiple Submitters No Conflicts	CA340186716	rs_1156647434	3 SubmittersRCV002004850 RCV002564359 RCV004816815
NM_017739.4(POMGNT1):c.1788C>A (p.Cys596Ter)	SNV Germline	Chr1:46189565	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Single Submitter	CA340171108	rs_376973640	1 SubmittersRCV001999720
NM_017739.4(POMGNT1):c.1153G>T (p.Glu385Ter)	SNV Germline	Chr1:46192958	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Single Submitter	CA340179223	rs_2148189653	1 SubmittersRCV001908048
NM_017739.4(POMGNT1):c.75G>A (p.Trp25Ter)	SNV Germline	Chr1:46197747	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Single Submitter	CA340192789	rs_1264635358	1 SubmittersRCV002002554
NM_017739.4(POMGNT1):c.1152+1G>A	SNV Germline	Chr1:46193173	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Conflicting Classifications	CA340179329	rs_1474858292	3 SubmittersRCV002023103 RCV002545583 RCV003471270
NM_017739.4(POMGNT1):c.752-2A>G	SNV Germline	Chr1:46194403	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscle eye brain disease	Criteria Provided Conflicting Classifications	CA340183587	rs_1236287516	4 SubmittersRCV001977399 RCV002573370 RCV003464340 RCV006639326
NM_017739.4(POMGNT1):c.1286G>T (p.Gly429Val)	SNV Germline	Chr1:46192435	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA340176023	rs_751274265	1 SubmittersRCV002052420
NM_017739.4(POMGNT1):c.489C>T (p.Phe163=)	SNV Germline	Chr1:46195856	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Retinal dystrophy	Criteria Provided Conflicting Classifications	CA417719063	rs_1379184772	2 SubmittersRCV002147518 RCV003889057
NM_017739.4(POMGNT1):c.316A>C (p.Ser106Arg)	SNV Germline	Chr1:46196769	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 not specified	Criteria Provided Conflicting Classifications	CA340191605	rs_756316567	2 SubmittersRCV002291307 RCV006459102
NM_017739.4(POMGNT1):c.235+2T>G	SNV Germline	Chr1:46196968	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Multiple Submitters No Conflicts	CA340191795	rs_2148218654	2 SubmittersRCV002249138 RCV003101338
NM_017739.4(POMGNT1):c.702G>A (p.Trp234Ter)	SNV Unknown	Chr1:46194602	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA340184136	rs_2525428998	2 SubmittersRCV002307959
NM_017739.4(POMGNT1):c.1117A>T (p.Lys373Ter)	SNV Unknown	Chr1:46193209	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA340179559	rs_752591703	1 SubmittersRCV002308147
NM_017739.4(POMGNT1):c.226C>T (p.Gln76Ter)	SNV Unknown	Chr1:46196979	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA340191847	rs_972657462	1 SubmittersRCV002309302
NM_017739.4(POMGNT1):c.458C>A (p.Ser153Ter)	SNV Unknown	Chr1:46195887	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA340188645	rs_1048865247	1 SubmittersRCV002310102
NM_017739.4(POMGNT1):c.333T>A (p.Tyr111Ter)	SNV Unknown	Chr1:46196752	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA340191562	rs_752497984	1 SubmittersRCV002310292
NM_017739.4(POMGNT1):c.1686T>A (p.Cys562Ter)	SNV Germline	Chr1:46189953	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA340171534	rs_2525345067	2 SubmittersRCV002465017 RCV005019210
NM_017739.4(POMGNT1):c.1609A>T (p.Lys537Ter)	SNV Germline	Chr1:46190513	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Multiple Submitters No Conflicts	CA340171842	rs_2525355533	4 SubmittersRCV003079779 RCV003459743 RCV006641206 RCV005863807
NM_017739.4(POMGNT1):c.1002A>C (p.Thr334=)	SNV Germline	Chr1:46193588	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA833539	rs_768588675	2 SubmittersRCV003087070 RCV003889238
NM_017739.4(POMGNT1):c.751+2T>G	SNV Germline	Chr1:46194551	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Single Submitter	CA340183654	rs_1658064113	1 SubmittersRCV002584017
NM_017739.4(POMGNT1):c.1411A>T (p.Lys471Ter)	SNV Germline	Chr1:46192310	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Single Submitter	CA21912515	rs_1038334168	1 SubmittersRCV002630262
NM_017739.4(POMGNT1):c.1343G>A (p.Gly448Glu)	SNV Germline	Chr1:46192378	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Single Submitter	CA340175384	rs_1226108463	1 SubmittersRCV002756817
NM_017739.4(POMGNT1):c.1A>G (p.Met1Val)	SNV Germline	Chr1:46197821	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Single Submitter	CA340193553	rs_1658367194	1 SubmittersRCV002846431
NM_017739.4(POMGNT1):c.33G>A (p.Lys11=)	SNV Germline	Chr1:46197789	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA417720764	rs_2525476571	2 SubmittersRCV002851250 RCV003889169
NM_017739.4(POMGNT1):c.236-1G>C	SNV Germline	Chr1:46196850	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Single Submitter	CA340191776	rs_1057516477	1 SubmittersRCV002872172
NM_017739.4(POMGNT1):c.1465G>T (p.Glu489Ter)	SNV Germline	Chr1:46192172	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Single Submitter	CA340173739	rs_2148184028	1 SubmittersRCV002848232
NM_017739.4(POMGNT1):c.931C>G (p.Arg311Gly)	SNV Germline	Chr1:46193874	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Single Submitter	CA340181518	rs_386834039	1 SubmittersRCV002867802
NM_017739.4(POMGNT1):c.1468T>G (p.Cys490Gly)	SNV Germline	Chr1:46192169	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Single Submitter	CA340173683	rs_1657824312	1 SubmittersRCV002970689
NM_017739.4(POMGNT1):c.3G>A (p.Met1Ile)	SNV Germline	Chr1:46197819	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Single Submitter	CA833900	rs_774349262	1 SubmittersRCV002995547
NM_017739.4(POMGNT1):c.1352G>A (p.Trp451Ter)	SNV Germline	Chr1:46192369	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA340175293	rs_2525387871	2 SubmittersRCV003026963 RCV004572608
NM_017739.4(POMGNT1):c.1826G>C (p.Arg609Pro)	SNV Germline	Chr1:46189527	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA833218	rs_371741722	2 SubmittersRCV003129243 RCV005433357
NM_017739.4(POMGNT1):c.1804C>T (p.Leu602=)	SNV Germline	Chr1:46189549	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA833222	rs_752229468	2 SubmittersRCV003129263 RCV003778688
NM_017739.4(POMGNT1):c.1785+1G>C	SNV Germline	Chr1:46189853	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA340171169	rs_2148166435	1 SubmittersRCV003312126
NM_017739.4(POMGNT1):c.879+2T>G	SNV Unknown	Chr1:46194272	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA340182295	rs_1057516318	1 SubmittersRCV003463345
NM_017739.4(POMGNT1):c.1414-1G>T	SNV Unknown	Chr1:46192224	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA340174492	rs_2525384059	1 SubmittersRCV003471722
NM_017739.4(POMGNT1):c.1414-2A>C	SNV Unknown	Chr1:46192225	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA340174533	rs_2525384071	1 SubmittersRCV003463347
NM_017739.4(POMGNT1):c.640G>T (p.Gly214Ter)	SNV Unknown	Chr1:46194856	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA340186458	rs_2525435346	1 SubmittersRCV003471725
NM_017739.4(POMGNT1):c.1398G>A (p.Trp466Ter)	SNV Germline	Chr1:46192323	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Multiple Submitters No Conflicts	CA340174854	rs_2525386608	2 SubmittersRCV003463349 RCV005030046
NM_017739.4(POMGNT1):c.1397G>A (p.Trp466Ter)	SNV Unknown	Chr1:46192324	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA340174863	rs_2525386642	1 SubmittersRCV003471726
NM_017739.4(POMGNT1):c.296T>C (p.Leu99Pro)	SNV Germline	Chr1:46196789	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscle eye brain disease	Criteria Provided Multiple Submitters No Conflicts	CA340191646	rs_2525462732	3 SubmittersRCV003463350 RCV005021981 RCV006642945
NM_017739.4(POMGNT1):c.1585C>T (p.Gln529Ter)	SNV Unknown	Chr1:46190739	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA340172442	rs_2525360161	1 SubmittersRCV003463352
NM_017739.4(POMGNT1):c.1650-2A>G	SNV Germline	Chr1:46189991	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Multiple Submitters No Conflicts	CA340171671	rs_2525345840	2 SubmittersRCV003463354 RCV005030047
NM_017739.4(POMGNT1):c.862G>T (p.Glu288Ter)	SNV Unknown	Chr1:46194291	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA340182570	rs_1476814352	1 SubmittersRCV003471732
NM_017739.4(POMGNT1):c.1450C>T (p.Gln484Ter)	SNV Unknown	Chr1:46192187	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA21912337	rs_367957647	1 SubmittersRCV003463355
NM_017739.4(POMGNT1):c.932G>C (p.Arg311Pro)	SNV Germline	Chr1:46193873	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Single Submitter	CA833568	rs_193919336	1 SubmittersRCV003781525
NM_017739.4(POMGNT1):c.538G>T (p.Glu180Ter)	SNV Germline	Chr1:46194958	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Single Submitter	CA340187515	rs_1176339464	1 SubmittersRCV003792961
NM_017739.4(POMGNT1):c.1835G>A (p.Trp612Ter)	SNV Germline	Chr1:46189518	Pathogenic/Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA340170943	rs_2525336107	2 SubmittersRCV003791954 RCV004573327
NM_017739.4(POMGNT1):c.120+1G>A	SNV Germline	Chr1:46197701	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Single Submitter	CA340192541	rs_1658353990	1 SubmittersRCV003791124
NM_017739.4(POMGNT1):c.1111-1G>A	SNV Germline	Chr1:46193216	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Single Submitter	CA833483	rs_764266244	1 SubmittersRCV003796896
NM_017739.4(POMGNT1):c.1110+1G>T	SNV Germline	Chr1:46193304	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Single Submitter	CA340179683	rs_1657940058	1 SubmittersRCV003800305
NM_017739.4(POMGNT1):c.1374C>G (p.Tyr458Ter)	SNV Germline	Chr1:46192347	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Single Submitter	CA340175101	rs_2525387215	1 SubmittersRCV003810004
NM_017739.4(POMGNT1):c.94C>T (p.Gln32Ter)	SNV Germline	Chr1:46197728	Pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Single Submitter	CA340192699	rs_2525475799	1 SubmittersRCV003807470
NM_017739.4(POMGNT1):c.1069C>T (p.Gln357Ter)	SNV Germline	Chr1:46193346	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Retinitis pigmentosa 76	Criteria Provided Multiple Submitters No Conflicts		rs_750620615	2 SubmittersRCV004574602 RCV005015189
NM_017739.4(POMGNT1):c.49A>T (p.Lys17Ter)	SNV Germline	Chr1:46197773	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter			1 SubmittersRCV004764868
NM_017739.4(POMGNT1):c.359T>C (p.Leu120Pro)	SNV Germline	Chr1:46196073	Conflicting classifications of pathogenicity	Retinal dystrophy not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV004795323 RCV006455912
NM_017739.4(POMGNT1):c.701G>A (p.Trp234Ter)	SNV Germline	Chr1:46194603	Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Single Submitter			1 SubmittersRCV004797009
NM_017739.4(POMGNT1):c.1284+1G>A	SNV Germline	Chr1:46192517	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Single Submitter			1 SubmittersRCV005018468
NM_017739.4(POMGNT1):c.63G>A (p.Trp21Ter)	SNV Germline	Chr1:46197759	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Single Submitter			1 SubmittersRCV005224632
NM_017739.4(POMGNT1):c.743C>G (p.Ser248Ter)	SNV Germline	Chr1:46194561	Likely pathogenic	Muscle eye brain disease	Criteria Provided Single Submitter			1 SubmittersRCV005605895
NM_017739.4(POMGNT1):c.1434G>A (p.Trp478Ter)	SNV Germline	Chr1:46192203	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005631415
NM_017739.4(POMGNT1):c.235+1G>A	SNV Unknown	Chr1:46196969	Likely pathogenic	Myopathy caused by variation in POMGNT1	Criteria Provided Single Submitter			1 SubmittersRCV005637777
NM_017739.4(POMGNT1):c.951-1G>A	SNV Unknown	Chr1:46193640	Likely pathogenic	Myopathy caused by variation in POMGNT1	Criteria Provided Single Submitter			1 SubmittersRCV005637779
NM_017739.4(POMGNT1):c.1212-2A>G	SNV Germline	Chr1:46192592	Likely pathogenic	Muscle eye brain disease	Criteria Provided Single Submitter			1 SubmittersRCV006637606
NM_017739.4(POMGNT1):c.1649+1G>C	SNV Germline	Chr1:46190472	Likely pathogenic	Muscle eye brain disease	Criteria Provided Single Submitter			1 SubmittersRCV006637608
NM_017739.4(POMGNT1):c.1873G>A (p.Gly625Arg)	SNV Germline	Chr1:46189480	Likely pathogenic	Muscle eye brain disease	Criteria Provided Single Submitter			1 SubmittersRCV006637611
NM_017739.4(POMGNT1):c.1895+2T>C	SNV Germline	Chr1:46189456	Pathogenic	Muscle eye brain disease	Criteria Provided Single Submitter			1 SubmittersRCV006637612
NM_017739.4(POMGNT1):c.62G>A (p.Trp21Ter)	SNV Germline	Chr1:46197760	Likely pathogenic	Muscle eye brain disease	Criteria Provided Single Submitter			1 SubmittersRCV006637613
NM_017739.4(POMGNT1):c.1813C>G (p.Arg605Gly)	SNV Germline	Chr1:46189540	Likely pathogenic	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Single Submitter			1 SubmittersRCV006646674

SNV
Germline

Chr1:46192307

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA116538

rs_587777821

2 SubmittersRCV001377279 RCV001847568

NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)

SNV
Germline

Chr1:46190473

Pathogenic/Likely pathogenic

Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA116540

rs_193919335

4 SubmittersRCV000169201 RCV001847570 RCV005406722

NM_017739.4(POMGNT1):c.1478C>G (p.Pro493Arg)

SNV
Germline

Chr1:46192159

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

No Assertion Criteria Provided

CA116544

rs_28942068

1 SubmittersRCV001847572

NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)

SNV
Germline

Chr1:46192397

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 76
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy
Autosomal recessive limb-girdle muscular dystrophy
Retinal dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76

Criteria Provided
Multiple Submitters
No Conflicts

CA116547

rs_28940869

13 SubmittersRCV000150001 RCV000984303 RCV000984210 RCV000984301 RCV000984302 RCV001219572 RCV001847573 RCV002512738 RCV002222337 RCV004814821 RCV005025002

NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)

SNV
Germline

Chr1:46193873

Pathogenic/Likely pathogenic

Muscle eye brain disease
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76

Criteria Provided
Multiple Submitters
No Conflicts

CA211242

rs_193919336

11 SubmittersRCV000049989 RCV001582464 RCV001370524 RCV001847574 RCV002509144 RCV002512739 RCV005862697

NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter)

SNV
Germline

Chr1:46197018

Pathogenic

Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscle eye brain disease

Criteria Provided
Multiple Submitters
No Conflicts

CA116550

rs_193919337

8 SubmittersRCV000240891 RCV001390610 RCV001847575 RCV001529546 RCV005016236 RCV004566681 RCV006638532

NM_017739.4(POMGNT1):c.1425G>A (p.Trp475Ter)

SNV
Germline

Chr1:46192212

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA116554

rs_267606961

2 SubmittersRCV001847577

NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)

SNV
Germline

Chr1:46189973

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
not specified
Condition: not provided
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Structural eye disease
Retinitis pigmentosa 40

Criteria Provided
Conflicting Classifications

CA116557

rs_74374973

17 SubmittersRCV000004204 RCV000081801 RCV000710195 RCV000671438 RCV001082774 RCV001097781 RCV001579238 RCV001449938 RCV001579237 RCV005400692 RCV006697966

NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro)

SNV
Germline

Chr1:46189539

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA116560

rs_267606962

9 SubmittersRCV000004205 RCV000671290 RCV000824425 RCV001268426 RCV002512740 RCV003322587

NM_017739.4(POMGNT1):c.652+1G>A

SNV
Germline

Chr1:46194843

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy
Ovarian serous cystadenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA116563

rs_386834035

6 SubmittersRCV000004206 RCV000050018 RCV003466805 RCV002512741 RCV005887283

NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)

SNV
Germline

Chr1:46192168

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
POMGNT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA116564

rs_267606960

11 SubmittersRCV000004207 RCV000411094 RCV000798530 RCV001091843 RCV002476922 RCV002512742 RCV003460424 RCV004532285

NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His)

SNV
Germline

Chr1:46194359

Conflicting classifications of pathogenicity

Muscle eye brain disease
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76

Criteria Provided
Conflicting Classifications

CA263935

rs_386834010

8 SubmittersRCV000049988 RCV000250383 RCV001045717 RCV005629902 RCV005430113 RCV005862959

NM_017739.4(POMGNT1):c.1285-2A>G

SNV
Germline

Chr1:46192438

Pathogenic/Likely pathogenic

Muscle eye brain disease
POMGNT1-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA263941

rs_386834012

7 SubmittersRCV000049991 RCV000292476 RCV000375211 RCV000983991 RCV001853063 RCV002514260 RCV003460639

NM_017739.4(POMGNT1):c.1319T>G (p.Leu440Arg)

SNV
Germline

Chr1:46192402

Likely pathogenic

Muscle eye brain disease

Criteria Provided
Single Submitter

CA263942

rs_386834013

2 SubmittersRCV000049992

NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg)

SNV
Germline

Chr1:46192379

Conflicting classifications of pathogenicity

Muscle eye brain disease
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76

Criteria Provided
Conflicting Classifications

CA263945

rs_386834014

9 SubmittersRCV000049993 RCV001542551 RCV002514262 RCV003228903 RCV002514261 RCV003460640 RCV005025103

NM_017739.4(POMGNT1):c.1539+1G>A

SNV
Germline

Chr1:46192097

Pathogenic

Muscle eye brain disease
Condition: not provided
POMGNT1-related disorder
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Myopathy caused by variation in POMGNT1
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinal dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive POMGNT1-related disorders
Cervical cancer
Malignant tumor of esophagus

Criteria Provided
Multiple Submitters
No Conflicts

CA234711

rs_138642840

28 SubmittersRCV000049995 RCV000153760 RCV000323217 RCV000501155 RCV000648199 RCV000983990 RCV000763345 RCV001030748 RCV001196668 RCV001269143 RCV002295277 RCV002470740 RCV002514263 RCV005357428 RCV004814990 RCV005025104 RCV006633891 RCV005890363 RCV005890362

NM_017739.4(POMGNT1):c.1539+1G>T

SNV
Germline

Chr1:46192097

Pathogenic

Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA263949

rs_138642840

4 SubmittersRCV000049996 RCV002513695 RCV005430480

NM_017739.4(POMGNT1):c.1540-2A>G

SNV
Unknown

Chr1:46190786

Likely pathogenic

Muscle eye brain disease

No Assertion Criteria Provided

CA263950

rs_386834016

1 SubmittersRCV000049997

NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter)

SNV
Germline

Chr1:46189901

Pathogenic

Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA263951

rs_386834018

7 SubmittersRCV000049999 RCV000818740 RCV002514264 RCV003460641 RCV005051746

NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)

SNV
Germline

Chr1:46189870

Pathogenic

Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA263954

rs_386834019

10 SubmittersRCV000050000 RCV000820354 RCV001542522 RCV002496725 RCV002514265 RCV004566907 RCV005632218

NM_017739.4(POMGNT1):c.1785+2T>G

SNV
Unknown

Chr1:46189852

Likely pathogenic

Muscle eye brain disease

No Assertion Criteria Provided

CA263957

rs_386834020

1 SubmittersRCV000050001

NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His)

SNV
Germline

Chr1:46189539

Pathogenic/Likely pathogenic

Muscle eye brain disease
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76

Criteria Provided
Multiple Submitters
No Conflicts

CA263958

rs_267606962

9 SubmittersRCV000050002 RCV001269853 RCV001853064 RCV002513696 RCV003460642 RCV005016346

NM_017739.4(POMGNT1):c.1895+1G>A

SNV
Germline

Chr1:46189457

Pathogenic/Likely pathogenic

Muscle eye brain disease
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA263963

rs_386834024

8 SubmittersRCV000050005 RCV000240866 RCV001043665 RCV001810415 RCV002513697 RCV004700352

NM_017739.4(POMGNT1):c.1896-1G>C

SNV
Germline

Chr1:46189358

Likely pathogenic

Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA263966

rs_386834025

3 SubmittersRCV000050008 RCV003466918

NM_017739.4(POMGNT1):c.594C>G (p.Ser198Arg)

SNV
Germline

Chr1:46194902

Likely pathogenic

Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA263975

rs_386834032

2 SubmittersRCV000050015 RCV005406792

NM_017739.4(POMGNT1):c.630G>T (p.Trp210Cys)

SNV
Germline

Chr1:46194866

Pathogenic/Likely pathogenic

Muscle eye brain disease
Condition: not provided

No Assertion Criteria Provided

CA263978

rs_386834033

3 SubmittersRCV000050016 RCV001528958

NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)

SNV
Germline

Chr1:46194853

Pathogenic

Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Multiple Submitters
No Conflicts

CA263981

rs_386834034

11 SubmittersRCV000050017 RCV000408610 RCV000578838 RCV000984295 RCV001062800 RCV000984294 RCV002272048 RCV003460643 RCV005016347

NM_017739.4(POMGNT1):c.667G>A (p.Glu223Lys)

SNV
Germline

Chr1:46194637

Conflicting classifications of pathogenicity

Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA263984

rs_386834036

5 SubmittersRCV000050019 RCV002514268 RCV003466919 RCV005639077

NM_017739.4(POMGNT1):c.806G>A (p.Cys269Tyr)

SNV
Unknown

Chr1:46194347

Likely pathogenic

Muscle eye brain disease

No Assertion Criteria Provided

CA263987

rs_386834037

1 SubmittersRCV000050020

NM_017739.4(POMGNT1):c.879+5G>A

SNV
Germline

Chr1:46194269

Likely pathogenic

Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA263990

rs_386834038

3 SubmittersRCV000050021 RCV003460644

NM_017739.4(POMGNT1):c.879+5G>T

SNV
Germline

Chr1:46194269

Likely pathogenic

Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy

Criteria Provided
Single Submitter

CA263991

rs_386834038

2 SubmittersRCV000050022 RCV002513700

NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)

SNV
Germline

Chr1:46193874

Pathogenic

Muscle eye brain disease
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76

Criteria Provided
Multiple Submitters
No Conflicts

CA223256

rs_386834039

9 SubmittersRCV000050023 RCV000081807 RCV000984300 RCV000984204 RCV001039421 RCV000984205 RCV003466920 RCV005016348

NM_017739.4(POMGNT1):c.236-13T>C

SNV
Germline

Chr1:46196862

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Congenital Muscular Dystrophy, alpha-dystroglycan related
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA148806

rs_150578902

5 SubmittersRCV000081802 RCV000828431 RCV001101654 RCV001101653 RCV001521834

NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)

SNV
Germline

Chr1:46196784

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Muscle eye brain disease
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
POMGNT1-related disorder

Criteria Provided
Conflicting Classifications

CA148807

rs_150576537

14 SubmittersRCV000081803 RCV000312026 RCV000369008 RCV000667593 RCV000710196 RCV001079365 RCV001449947 RCV004528294

NM_017739.4(POMGNT1):c.582G>A (p.Arg194=)

SNV
Germline

Chr1:46194914

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA223252

rs_398124309

2 SubmittersRCV000081804 RCV001398919

NM_017739.4(POMGNT1):c.-11G>A

SNV
Germline

Chr1:46197832

Conflicting classifications of pathogenicity

not specified
Congenital Muscular Dystrophy, alpha-dystroglycan related
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Conflicting Classifications

CA292891

rs_80107141

3 SubmittersRCV000127571 RCV001097959 RCV001097960

NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)

SNV
Germline

Chr1:46194314

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Inborn genetic diseases
POMGNT1-related disorder

Criteria Provided
Conflicting Classifications

CA295419

rs_142485035

10 SubmittersRCV000150000 RCV000725700 RCV000763935 RCV001083649 RCV001333960 RCV002514874 RCV004732704

NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser)

SNV
Germline

Chr1:46196766

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Muscle eye brain disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA295425

rs_375420073

4 SubmittersRCV000648197 RCV000763937 RCV001272275 RCV003129788

NM_017739.4(POMGNT1):c.1490G>A (p.Arg497Gln)

SNV
Germline

Chr1:46192147

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Retinal dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76

Criteria Provided
Conflicting Classifications

CA234712

rs_573518562

6 SubmittersRCV000153761 RCV000622475 RCV002516092 RCV002516093 RCV003888594 RCV005025233

NM_017739.4(POMGNT1):c.1831C>T (p.Leu611=)

SNV
Germline

Chr1:46189522

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
POMGNT1-related disorder

Criteria Provided
Conflicting Classifications

CA234708

rs_367848204

4 SubmittersRCV000153759 RCV001083116 RCV001826827 RCV004532732

NM_017739.4(POMGNT1):c.87G>A (p.Leu29=)

SNV
Germline

Chr1:46197735

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA241695

rs_794727291

2 SubmittersRCV000175881 RCV001432865

NM_017739.4(POMGNT1):c.421-7C>A

SNV
Germline

Chr1:46195931

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
POMGNT1-related disorder
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Lung cancer
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA246764

rs_189274856

11 SubmittersRCV000179495 RCV000263792 RCV000356295 RCV000724803 RCV001081913 RCV001277259 RCV004539682 RCV005892033 RCV005892032 RCV005892031

NM_017739.4(POMGNT1):c.549C>T (p.Phe183=)

SNV
Germline

Chr1:46194947

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
POMGNT1-related disorder

Criteria Provided
Conflicting Classifications

CA247294

rs_140724142

5 SubmittersRCV000179953 RCV000724831 RCV001088969 RCV001275754 RCV004537498

NM_017739.4(POMGNT1):c.1413+1G>C

SNV
Germline

Chr1:46192307

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy

Criteria Provided
Conflicting Classifications

CA205174

rs_587777821

2 SubmittersRCV000192386 RCV002517120

NM_017739.4(POMGNT1):c.1285-6C>T

SNV
Germline

Chr1:46192442

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Conflicting Classifications

CA208497

rs_377292905

4 SubmittersRCV000194367 RCV000814493 RCV001828017 RCV003338456

NM_017739.4(POMGNT1):c.38T>C (p.Phe13Ser)

SNV
Germline

Chr1:46197784

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Muscle eye brain disease
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA209243

rs_377724143

9 SubmittersRCV000194818 RCV000727160 RCV000813907 RCV001096217 RCV001096216 RCV001275759 RCV004816323

NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser)

SNV
Germline

Chr1:46194293

Conflicting classifications of pathogenicity

Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Condition: not provided
not specified
Muscle eye brain disease

Criteria Provided
Conflicting Classifications

CA833593

rs_200863680

6 SubmittersRCV000240954 RCV001333961 RCV001854940 RCV003133196 RCV003479082 RCV006640514

NM_017739.4(POMGNT1):c.466G>A (p.Glu156Lys)

SNV
Germline

Chr1:46195879

Pathogenic

Retinitis pigmentosa 76

No Assertion Criteria Provided

CA10586396

rs_886037947

1 SubmittersRCV000240928

NM_017739.4(POMGNT1):c.1505G>C (p.Gly502Ala)

SNV
Germline

Chr1:46192132

Pathogenic

Retinitis pigmentosa 76

No Assertion Criteria Provided

CA10586397

rs_886037948

1 SubmittersRCV000240894

NM_017739.4(POMGNT1):c.359T>G (p.Leu120Arg)

SNV
Germline

Chr1:46196073

Pathogenic

Retinitis pigmentosa 76

No Assertion Criteria Provided

CA10586398

rs_886037949

1 SubmittersRCV000240931

NM_017739.4(POMGNT1):c.120+13C>T

SNV
Germline

Chr1:46197689

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA833878

rs_12737140

8 SubmittersRCV000245127 RCV000283595 RCV000340979 RCV001509905 RCV001700020

NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)

SNV
Germline

Chr1:46194860

Pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA833669

rs_190057175

11 SubmittersRCV000255207 RCV000695969 RCV000984296 RCV000984297 RCV000984298 RCV000984299 RCV002500958 RCV003155140 RCV002518761 RCV003463717

NM_017739.4(POMGNT1):c.1895C>G (p.Ser632Ter)

SNV
Germline

Chr1:46189458

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy

Criteria Provided
Conflicting Classifications

CA10602829

rs_200471699

3 SubmittersRCV000384080 RCV002519069 RCV005411398

NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)

SNV
Germline

Chr1:46192127

Conflicting classifications of pathogenicity

Congenital Muscular Dystrophy, alpha-dystroglycan related
not specified
Autosomal recessive limb-girdle muscular dystrophy type 2O
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscle eye brain disease

Criteria Provided
Conflicting Classifications

CA833347

rs_17102066

11 SubmittersRCV000268124 RCV000267239 RCV000354770 RCV000548277 RCV001084521 RCV001333958 RCV001833303

NM_017739.4(POMGNT1):c.1077T>C (p.Thr359=)

SNV
Germline

Chr1:46193338

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Conflicting Classifications

CA10603980

rs_886042244

2 SubmittersRCV000270489 RCV001491033

NM_017739.4(POMGNT1):c.355-9A>G

SNV
Germline

Chr1:46196086

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA10604177

rs_886042396

2 SubmittersRCV000395745 RCV002059109

NM_017739.4(POMGNT1):c.486A>G (p.Leu162=)

SNV
Germline

Chr1:46195859

Conflicting classifications of pathogenicity

Congenital Muscular Dystrophy, alpha-dystroglycan related
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease

Criteria Provided
Conflicting Classifications

CA833717

rs_138330966

6 SubmittersRCV000298962 RCV000386165 RCV000395975 RCV001079550 RCV001833327

NM_017739.4(POMGNT1):c.1111-6T>C

SNV
Germline

Chr1:46193221

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA833485

rs_751751349

2 SubmittersRCV000306178 RCV002059133

NM_017739.4(POMGNT1):c.960C>G (p.Arg320=)

SNV
Germline

Chr1:46193630

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease

Criteria Provided
Conflicting Classifications

CA833545

rs_146933218

8 SubmittersRCV000295933 RCV000343795 RCV000385748 RCV000725556 RCV001081570 RCV001277253

NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr)

SNV
Germline

Chr1:46193580

Conflicting classifications of pathogenicity

Condition: not provided
Muscle eye brain disease
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Inborn genetic diseases
Retinal dystrophy
Muscular dystrophy-dystroglycanopathy
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA833537

rs_138745073

9 SubmittersRCV000324220 RCV000763934 RCV001855150 RCV002518961 RCV003888676 RCV005411399 RCV005016672

NM_017739.4(POMGNT1):c.1050G>T (p.Leu350=)

SNV
Germline

Chr1:46193365

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA10605078

rs_886043076

2 SubmittersRCV000337960 RCV002059173

NM_017739.4(POMGNT1):c.1476C>A (p.Ile492=)

SNV
Germline

Chr1:46192161

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA833356

rs_375432782

3 SubmittersRCV000295348 RCV001467579

NM_017739.4(POMGNT1):c.396T>C (p.His132=)

SNV
Germline

Chr1:46196036

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA10605486

rs_886043409

2 SubmittersRCV000303433 RCV001434684

NM_017739.4(POMGNT1):c.1536T>C (p.Phe512=)

SNV
Germline

Chr1:46192101

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA833341

rs_367596859

2 SubmittersRCV000378371 RCV001417068

NM_017739.4(POMGNT1):c.1454G>A (p.Arg485His)

SNV
Germline

Chr1:46192183

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided
Muscle eye brain disease
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA833367

rs_544816408

7 SubmittersRCV000559267 RCV000407481 RCV001277250 RCV004816507

NM_017739.4(POMGNT1):c.266G>A (p.Arg89Gln)

SNV
Germline

Chr1:46196819

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA833805

rs_200042607

4 SubmittersRCV000292083 RCV001057584 RCV001272276 RCV002521993

NM_017739.4(POMGNT1):c.1923A>C (p.Pro641=)

SNV
Germline

Chr1:46189330

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Conflicting Classifications

CA10606162

rs_886043958

3 SubmittersRCV000362367 RCV001085021

NM_017739.4(POMGNT1):c.444G>A (p.Val148=)

SNV
Germline

Chr1:46195901

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Conflicting Classifications

CA833722

rs_142016718

2 SubmittersRCV000325355 RCV001477716

NM_017739.4(POMGNT1):c.269G>A (p.Arg90His)

SNV
Germline

Chr1:46196816

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscle eye brain disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA833803

rs_139701867

7 SubmittersRCV000407599 RCV000524954 RCV000763938 RCV001275757 RCV002518127

NM_017739.4(POMGNT1):c.652+6G>A

SNV
Germline

Chr1:46194838

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Conflicting Classifications

CA833664

rs_369289384

4 SubmittersRCV000287773 RCV000726485 RCV001242504

NM_017739.4(POMGNT1):c.1284+9G>C

SNV
Germline

Chr1:46192509

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscle eye brain disease
POMGNT1-related disorder

Criteria Provided
Conflicting Classifications

CA833417

rs_565797493

5 SubmittersRCV000346335 RCV000726491 RCV001079134 RCV001833408 RCV004543139

NM_017739.4(POMGNT1):c.1813C>T (p.Arg605Cys)

SNV
Germline

Chr1:46189540

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
not specified

Criteria Provided
Conflicting Classifications

CA10606918

rs_886044567

3 SubmittersRCV000397961 RCV001859723 RCV005418058

NM_017739.4(POMGNT1):c.1540-6C>T

SNV
Germline

Chr1:46190790

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease

Criteria Provided
Conflicting Classifications

CA833317

rs_770449394

3 SubmittersRCV000303249 RCV000358125 RCV000877564 RCV001833425

NM_017739.4(POMGNT1):c.*451C>T

SNV
Germline

Chr1:46188819

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Condition: not provided

Criteria Provided
Conflicting Classifications

CA833137

rs_148903585

3 SubmittersRCV000296026 RCV000350895 RCV002244746

NM_017739.4(POMGNT1):c.129C>T (p.Ala43=)

SNV
Germline

Chr1:46197076

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA833846

rs_138950267

3 SubmittersRCV000270884 RCV000381350 RCV000732410 RCV001088107

NM_017739.4(POMGNT1):c.1786-2A>G

SNV
Germline

Chr1:46189569

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscle eye brain disease

Criteria Provided
Single Submitter

CA16040742

rs_1057517340

2 SubmittersRCV005430340 RCV006640592

NM_017739.4(POMGNT1):c.880-2A>G

SNV
Unknown

Chr1:46193927

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

No Assertion Criteria Provided

CA16040751

rs_1057516830

1 SubmittersRCV005430324

NM_017739.4(POMGNT1):c.879+2T>C

SNV
Unknown

Chr1:46194272

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

No Assertion Criteria Provided

CA16040752

rs_1057516318

1 SubmittersRCV005430292

NM_017739.4(POMGNT1):c.354+1G>A

SNV
Unknown

Chr1:46196730

Likely pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Lung cancer

No Assertion Criteria Provided

CA16040755

rs_1057517449

3 SubmittersRCV002281641 RCV005430347 RCV005900641

NM_017739.4(POMGNT1):c.236-1G>T

SNV
Germline

Chr1:46196850

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Multiple Submitters
No Conflicts

CA16040756

rs_1057516477

4 SubmittersRCV001377077 RCV003463789 RCV005018701

NM_017739.4(POMGNT1):c.121-2A>G

SNV
Unknown

Chr1:46197086

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

No Assertion Criteria Provided

CA16040758

rs_1057516871

1 SubmittersRCV005430326

NM_017739.4(POMGNT1):c.698C>T (p.Ser233Phe)

SNV
Germline

Chr1:46194606

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
POMGNT1-related disorder

Criteria Provided
Conflicting Classifications

CA833641

rs_569061665

4 SubmittersRCV000413042 RCV000873590 RCV001096117 RCV001096118 RCV004544726

NM_017739.4(POMGNT1):c.314C>G (p.Ser105Ter)

SNV
Germline

Chr1:46196771

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16603663

rs_1057522013

1 SubmittersRCV000428665

NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln)

SNV
Germline

Chr1:46192174

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Conflicting Classifications

CA833361

rs_766382416

4 SubmittersRCV000479982 RCV000984208 RCV000984207 RCV000984209 RCV001368114 RCV002525910 RCV005430538

NM_017739.4(POMGNT1):c.251G>A (p.Arg84His)

SNV
Germline

Chr1:46196834

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscle eye brain disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA833808

rs_373866304

6 SubmittersRCV000521285 RCV000540487 RCV001829507 RCV004659083

NM_017739.4(POMGNT1):c.386G>A (p.Arg129Gln)

SNV
Germline

Chr1:46196046

Conflicting classifications of pathogenicity

Muscle eye brain disease
Condition: not provided
Muscular dystrophy-dystroglycanopathy
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA833755

rs_770188918

5 SubmittersRCV001834803 RCV000591176 RCV002530069 RCV001200051 RCV000554424

NM_017739.4(POMGNT1):c.1167T>C (p.Ala389=)

SNV
Germline

Chr1:46192944

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA21913005

rs_183698543

2 SubmittersRCV000530635 RCV000732506

NM_017739.4(POMGNT1):c.1786-6C>T

SNV
Germline

Chr1:46189573

Conflicting classifications of pathogenicity

Condition: not provided
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
not specified

Criteria Provided
Conflicting Classifications

CA833227

rs_202028128

4 SubmittersRCV000596002 RCV001275229 RCV001484669 RCV001662641

NM_017739.4(POMGNT1):c.880-4A>C

SNV
Germline

Chr1:46193929

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Conflicting Classifications

CA658795456

rs_1553163534

2 SubmittersRCV000591029 RCV001867944

NM_017739.4(POMGNT1):c.1464A>G (p.Arg488=)

SNV
Germline

Chr1:46192173

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Conflicting Classifications

CA417886159

rs_1157887321

2 SubmittersRCV000592225 RCV001480439

NM_017739.4(POMGNT1):c.1683T>C (p.Pro561=)

SNV
Germline

Chr1:46189956

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA417717888

rs_1246120938

2 SubmittersRCV000595995 RCV001499773

NM_017739.4(POMGNT1):c.6C>T (p.Asp2=)

SNV
Germline

Chr1:46197816

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA417720818

rs_375238770

2 SubmittersRCV000595917 RCV001485687

NM_017739.4(POMGNT1):c.426C>T (p.His142=)

SNV
Germline

Chr1:46195919

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA833727

rs_374384310

2 SubmittersRCV000594088 RCV001455553

NM_017739.4(POMGNT1):c.1738C>A (p.Arg580=)

SNV
Germline

Chr1:46189901

Conflicting classifications of pathogenicity

Condition: not provided
Congenital Muscular Dystrophy, alpha-dystroglycan related
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA21910635

rs_386834018

3 SubmittersRCV000592161 RCV001097777 RCV001097778 RCV002532545

NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=)

SNV
Germline

Chr1:46190728

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
not specified
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscle eye brain disease
POMGNT1-related disorder

Criteria Provided
Conflicting Classifications

CA833311

rs_200730202

6 SubmittersRCV000592757 RCV001088509 RCV001288362 RCV001449648 RCV001835873 RCV004530719

NM_017739.4(POMGNT1):c.453G>A (p.Thr151=)

SNV
Germline

Chr1:46195892

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA833721

rs_146121135

5 SubmittersRCV000731258 RCV001088027

NM_017739.4(POMGNT1):c.120+4T>C

SNV
Germline

Chr1:46197698

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA522582548

rs_1223030962

2 SubmittersRCV000612085 RCV001860355

NM_017739.4(POMGNT1):c.1099C>T (p.Arg367Cys)

SNV
Germline

Chr1:46193316

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy

Criteria Provided
Conflicting Classifications

CA833501

rs_36038536

3 SubmittersRCV000648205 RCV001835049 RCV005411526

NM_017739.4(POMGNT1):c.1895+1G>C

SNV
Germline

Chr1:46189457

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA340170649

rs_386834024

2 SubmittersRCV002531334 RCV005430757

NM_017739.4(POMGNT1):c.1604+1G>A

SNV
Germline

Chr1:46190719

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA340172288

rs_1553162873

2 SubmittersRCV001855497 RCV005430592

NM_017739.4(POMGNT1):c.880-1G>A

SNV
Germline

Chr1:46193926

Pathogenic/Likely pathogenic

Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
POMGNT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA340182157

rs_1317832573

7 SubmittersRCV000667582 RCV001855483 RCV003230564 RCV003459586 RCV004723051

NM_017739.4(POMGNT1):c.1786-1G>A

SNV
Germline

Chr1:46189568

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA340171125

rs_1457667479

2 SubmittersRCV003767958 RCV005430571

NM_017739.4(POMGNT1):c.1649+2T>G

SNV
Germline

Chr1:46190471

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Multiple Submitters
No Conflicts

CA340171728

rs_1268759044

3 SubmittersRCV003459601 RCV003767967

NM_017739.4(POMGNT1):c.1605-1G>C

SNV
Germline

Chr1:46190518

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscle eye brain disease

Criteria Provided
Multiple Submitters
No Conflicts

CA340171852

rs_770219373

4 SubmittersRCV003465500 RCV003767988 RCV006642411

NM_017739.4(POMGNT1):c.1152+2T>C

SNV
Germline

Chr1:46193172

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Gastric cancer
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Multiple Submitters
No Conflicts

CA340179317

rs_1553163335

6 SubmittersRCV003465534 RCV004584792 RCV005019164 RCV005901507 RCV006556528

NM_017739.4(POMGNT1):c.1852A>T (p.Lys618Ter)

SNV
Germline

Chr1:46189501

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA340170853

rs_1553162663

2 SubmittersRCV002530722 RCV005430572

NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)

SNV
Germline

Chr1:46192124

Conflicting classifications of pathogenicity

Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinal dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA833345

rs_760705290

10 SubmittersRCV000668943 RCV001247989 RCV001731868 RCV001809739 RCV002531215 RCV003459603 RCV003889953 RCV005027798 RCV005409712

NM_017739.4(POMGNT1):c.1604+2T>C

SNV
Unknown

Chr1:46190718

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA340172275

rs_1553162872

2 SubmittersRCV004568495

NM_017739.4(POMGNT1):c.1212-1G>C

SNV
Unknown

Chr1:46192591

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

No Assertion Criteria Provided

CA340177032

rs_1553163254

1 SubmittersRCV005430416

NM_017739.4(POMGNT1):c.794G>C (p.Arg265Pro)

SNV
Germline

Chr1:46194359

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA340183190

rs_386834010

2 SubmittersRCV004702308 RCV005430818

NM_017739.4(POMGNT1):c.458C>G (p.Ser153Ter)

SNV
Germline

Chr1:46195887

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA21917575

rs_1048865247

3 SubmittersRCV001861750 RCV003465446

NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)

SNV
Germline

Chr1:46196047

Pathogenic/Likely pathogenic

Muscle eye brain disease
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76

Criteria Provided
Multiple Submitters
No Conflicts

CA833756

rs_375431575

10 SubmittersRCV000674794 RCV001200334 RCV001244825 RCV001788317 RCV001810481 RCV002531361 RCV005019166

NM_017739.4(POMGNT1):c.879+1G>C

SNV
Unknown

Chr1:46194273

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

No Assertion Criteria Provided

CA340182328

rs_1553163590

1 SubmittersRCV005430385

NM_017739.4(POMGNT1):c.653-2A>C

SNV
Germline

Chr1:46194653

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA340184815

rs_1553163721

2 SubmittersRCV002532050 RCV005430433

NM_017739.4(POMGNT1):c.1697T>C (p.Phe566Ser)

SNV
Germline

Chr1:46189942

Conflicting classifications of pathogenicity

Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA833260

rs_765906814

3 SubmittersRCV001277249 RCV000693960 RCV005623359

NM_017739.4(POMGNT1):c.99G>T (p.Arg33=)

SNV
Germline

Chr1:46197723

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Conflicting Classifications

CA833885

rs_767852518

2 SubmittersRCV000732025 RCV001489238

NM_017739.4(POMGNT1):c.1786-9C>T

SNV
Germline

Chr1:46189576

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA21910428

rs_961913683

2 SubmittersRCV000733317 RCV002067150

NM_017739.4(POMGNT1):c.1287G>C (p.Gly429=)

SNV
Germline

Chr1:46192434

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA417886269

rs_1263918453

2 SubmittersRCV000733856 RCV001414472

NM_017739.4(POMGNT1):c.1650-4G>A

SNV
Germline

Chr1:46189993

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA913189312

rs_1557669478

2 SubmittersRCV000734084 RCV003768240

NM_017739.4(POMGNT1):c.991C>T (p.Gln331Ter)

SNV
Germline

Chr1:46193599

Pathogenic/Likely pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA340180874

rs_1557673817

3 SubmittersRCV000760851 RCV002533851 RCV003465680

NM_017739.4(POMGNT1):c.751+1G>A

SNV
Germline

Chr1:46194552

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340183667

rs_1247668825

4 SubmittersRCV002536739 RCV003465709 RCV005021162 RCV005051826

NM_017739.4(POMGNT1):c.1526A>G (p.Asn509Ser)

SNV
Germline

Chr1:46192111

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA340173082

rs_1557671443

1 SubmittersRCV000782030

NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter)

SNV
Germline

Chr1:46192175

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA833362

rs_727504103

8 SubmittersRCV000823735 RCV002535998 RCV003326497 RCV003461286 RCV005253648 RCV006642678 RCV001266791 RCV006450360

NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter)

SNV
Germline

Chr1:46195834

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscle eye brain disease

Criteria Provided
Multiple Submitters
No Conflicts

CA340188042

rs_1424631447

4 SubmittersRCV000803088 RCV002534735 RCV003461142 RCV005606711

NM_017739.4(POMGNT1):c.7G>T (p.Asp3Tyr)

SNV
Germline

Chr1:46197815

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscle eye brain disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA833898

rs_201637813

3 SubmittersRCV000819640 RCV001830799 RCV003132101

NM_017739.4(POMGNT1):c.652+1G>T

SNV
Germline

Chr1:46194843

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscle eye brain disease
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Multiple Submitters
No Conflicts

CA21916937

rs_386834035

7 SubmittersRCV000796490 RCV001275751 RCV001508865 RCV003461088 RCV005029460

NM_017739.4(POMGNT1):c.796C>T (p.Arg266Trp)

SNV
Germline

Chr1:46194357

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscle eye brain disease
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA833601

rs_200363064

5 SubmittersRCV000876799 RCV001277255 RCV001508864 RCV003890001

NM_017739.4(POMGNT1):c.420G>A (p.Thr140=)

SNV
Germline

Chr1:46196012

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Muscle eye brain disease
Retinal dystrophy
POMGNT1-related disorder

Criteria Provided
Conflicting Classifications

CA833742

rs_146237009

5 SubmittersRCV000950279 RCV001097865 RCV001097866 RCV001272274 RCV003890103 RCV004543562

NM_017739.4(POMGNT1):c.1482C>T (p.Asp494=)

SNV
Germline

Chr1:46192155

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related

Criteria Provided
Conflicting Classifications

CA833353

rs_769213562

2 SubmittersRCV000903844 RCV001099570 RCV001099571

NM_017739.4(POMGNT1):c.1268C>T (p.Ser423Phe)

SNV
Unknown

Chr1:46192534

Likely pathogenic

Muscle eye brain disease

Criteria Provided
Single Submitter

CA340176415

rs_1571655768

1 SubmittersRCV000986314

NM_017739.4(POMGNT1):c.1814G>T (p.Arg605Leu)

SNV
Germline

Chr1:46189539

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA340171027

rs_267606962

1 SubmittersRCV001047810

NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)

SNV
Germline

Chr1:46192396

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Muscle eye brain disease

Criteria Provided
Multiple Submitters
No Conflicts

CA833406

rs_150877512

9 SubmittersRCV001092676 RCV001175511 RCV001376853 RCV001810495 RCV002554853 RCV005021438 RCV006636633

NM_017739.4(POMGNT1):c.*221G>A

SNV
Germline

Chr1:46189049

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Condition: not provided

Criteria Provided
Conflicting Classifications

CA21910130

rs_181362801

2 SubmittersRCV001101456 RCV001101455 RCV001555059

NM_017739.4(POMGNT1):c.*34G>A

SNV
Germline

Chr1:46189236

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Condition: not provided
POMGNT1-related disorder

Criteria Provided
Conflicting Classifications

CA833170

rs_200540049

4 SubmittersRCV001095993 RCV001101459 RCV003456471 RCV004545053

NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg)

SNV
Germline

Chr1:46189464

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA833208

rs_747723242

5 SubmittersRCV001095994 RCV001095995 RCV001277591 RCV002069619 RCV003132226 RCV003890235

NM_017739.4(POMGNT1):c.1878C>T (p.Val626=)

SNV
Germline

Chr1:46189475

Conflicting classifications of pathogenicity

Congenital Muscular Dystrophy, alpha-dystroglycan related
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA1139656118

rs_1657570765

2 SubmittersRCV001095997 RCV001095996 RCV002069620

NM_017739.4(POMGNT1):c.752-15G>A

SNV
Germline

Chr1:46194416

Conflicting classifications of pathogenicity

Congenital Muscular Dystrophy, alpha-dystroglycan related
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA833615

rs_368317059

2 SubmittersRCV001096115 RCV001096116 RCV001440335

NM_017739.4(POMGNT1):c.121-6C>A

SNV
Germline

Chr1:46197090

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Congenital Muscular Dystrophy, alpha-dystroglycan related
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA1139656113

rs_558052679

2 SubmittersRCV001096215 RCV001096214 RCV001873465

NM_017739.4(POMGNT1):c.1282C>T (p.Gln428Ter)

SNV
Germline

Chr1:46192520

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA340176183

rs_1657864516

1 SubmittersRCV001245885

NM_017739.4(POMGNT1):c.1285-2A>T

SNV
Germline

Chr1:46192438

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340176071

rs_386834012

1 SubmittersRCV001234616

NM_017739.4(POMGNT1):c.1153-1G>C

SNV
Germline

Chr1:46192959

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA340179236

rs_1657900739

1 SubmittersRCV001228164

NM_017739.4(POMGNT1):c.120+2T>A

SNV
Germline

Chr1:46197700

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340192535

rs_1658353874

4 SubmittersRCV001229087 RCV001828829 RCV004570569 RCV005630892

NM_017739.4(POMGNT1):c.304G>T (p.Glu102Ter)

SNV
Germline

Chr1:46196781

Pathogenic

Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA340191630

rs_749603354

3 SubmittersRCV001265639 RCV002537679 RCV003462842

NM_017739.4(POMGNT1):c.1832T>C (p.Leu611Pro)

SNV
Germline

Chr1:46189521

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA340170960

rs_1352149832

2 SubmittersRCV001268425 RCV004699250

NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His)

SNV
Germline

Chr1:46193315

Conflicting classifications of pathogenicity

Intellectual disability
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy type B6
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy
Muscle eye brain disease
Myopathy caused by variation in POMGNT1

Criteria Provided
Conflicting Classifications

CA833500

rs_762972459

9 SubmittersRCV001293357 RCV001760332 RCV001810503 RCV001859239 RCV003448390 RCV005029861 RCV002538420 RCV006636804 RCV006695042

NM_017739.4(POMGNT1):c.1813C>A (p.Arg605Ser)

SNV
Germline

Chr1:46189540

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Multiple Submitters
No Conflicts

CA340171031

rs_886044567

3 SubmittersRCV001378149 RCV004587149 RCV005014515

NM_017739.4(POMGNT1):c.1649+1G>A

SNV
Germline

Chr1:46190472

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Conflicting Classifications

CA833286

rs_752700398

3 SubmittersRCV001378427 RCV002550248 RCV005023125

NM_017739.4(POMGNT1):c.1605-2A>T

SNV
Germline

Chr1:46190519

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA340171853

rs_2148172518

1 SubmittersRCV001378957

NM_017739.4(POMGNT1):c.1110+1G>A

SNV
Germline

Chr1:46193304

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
POMGNT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA340179685

rs_1657940058

3 SubmittersRCV001377208 RCV003462946 RCV004531186

NM_017739.4(POMGNT1):c.235+2T>C

SNV
Germline

Chr1:46196968

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA340191797

rs_2148218654

1 SubmittersRCV001377653

NM_017739.4(POMGNT1):c.595C>T (p.Gln199Ter)

SNV
Germline

Chr1:46194901

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA340186900

rs_908815575

1 SubmittersRCV001385029

NM_017739.4(POMGNT1):c.1070A>T (p.Gln357Leu)

SNV
Germline

Chr1:46193345

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA833504

rs_374871234

2 SubmittersRCV001396196 RCV005635152

NM_017739.4(POMGNT1):c.1788C>T (p.Cys596=)

SNV
Germline

Chr1:46189565

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA833225

rs_376973640

2 SubmittersRCV001459630 RCV004812410

NM_017739.4(POMGNT1):c.74G>A (p.Trp25Ter)

SNV
Germline

Chr1:46197748

Pathogenic

Abnormality of the nervous system
Hydrocephalus

Criteria Provided
Multiple Submitters
No Conflicts

CA340192803

rs_1475539242

2 SubmittersRCV001814461 RCV002466682

NM_017739.4(POMGNT1):c.1453C>T (p.Arg485Cys)

SNV
Germline

Chr1:46192184

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA833368

rs_755588045

6 SubmittersRCV001565992 RCV002568438 RCV001859407 RCV003888304 RCV004770175

NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser)

SNV
Germline

Chr1:46193903

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA833573

rs_754653320

3 SubmittersRCV001578929 RCV001578930 RCV001578931 RCV001578932 RCV002570817 RCV005635181

NM_017739.4(POMGNT1):c.621G>T (p.Arg207Ser)

SNV
Germline

Chr1:46194875

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA833672

rs_763146463

1 SubmittersRCV001752959

NM_017739.4(POMGNT1):c.1623T>G (p.Tyr541Ter)

SNV
Germline

Chr1:46190499

Pathogenic/Likely pathogenic

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Multiple Submitters
No Conflicts

CA340171807

rs_746196856

2 SubmittersRCV001782671 RCV001868866

NM_017739.4(POMGNT1):c.935C>T (p.Pro312Leu)

SNV
Germline

Chr1:46193870

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
not specified
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Conflicting Classifications

CA340181479

rs_2148196270

4 SubmittersRCV001837090 RCV004041015 RCV005409025 RCV005225519

NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter)

SNV
Germline

Chr1:46192148

Conflicting classifications of pathogenicity

Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinal dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscle eye brain disease

Criteria Provided
Conflicting Classifications

CA833352

rs_745343484

7 SubmittersRCV001837127 RCV002034696 RCV002542791 RCV003464155 RCV003888327 RCV005023271 RCV006638978

NM_017739.4(POMGNT1):c.1212-1G>A

SNV
Germline

Chr1:46192591

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA340177033

rs_1553163254

1 SubmittersRCV002012584

NM_017739.4(POMGNT1):c.880-1G>C

SNV
Germline

Chr1:46193926

Pathogenic/Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinal dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscle eye brain disease

Criteria Provided
Multiple Submitters
No Conflicts

CA340182154

rs_1317832573

6 SubmittersRCV002036661 RCV002550498 RCV003464404 RCV004816946 RCV005025683 RCV006640881

NM_017739.4(POMGNT1):c.1785+1G>A

SNV
Germline

Chr1:46189853

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340171168

rs_2148166435

3 SubmittersRCV002010685 RCV005025619 RCV006275105

NM_017739.4(POMGNT1):c.1605-1G>T

SNV
Germline

Chr1:46190518

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA340171851

rs_770219373

1 SubmittersRCV002017559

NM_017739.4(POMGNT1):c.879A>C (p.Pro293=)

SNV
Germline

Chr1:46194274

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Condition: not provided
POMGNT1-related disorder

Criteria Provided
Conflicting Classifications

CA833590

rs_776248221

3 SubmittersRCV001980125 RCV003408000 RCV004538674

NM_017739.4(POMGNT1):c.1841T>A (p.Leu614Ter)

SNV
Germline

Chr1:46189512

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340170913

rs_1364587778

1 SubmittersRCV001930101

NM_017739.4(POMGNT1):c.617G>A (p.Trp206Ter)

SNV
Germline

Chr1:46194879

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Multiple Submitters
No Conflicts

CA340186716

rs_1156647434

3 SubmittersRCV002004850 RCV002564359 RCV004816815

NM_017739.4(POMGNT1):c.1788C>A (p.Cys596Ter)

SNV
Germline

Chr1:46189565

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340171108

rs_376973640

1 SubmittersRCV001999720

NM_017739.4(POMGNT1):c.1153G>T (p.Glu385Ter)

SNV
Germline

Chr1:46192958

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340179223

rs_2148189653

1 SubmittersRCV001908048

NM_017739.4(POMGNT1):c.75G>A (p.Trp25Ter)

SNV
Germline

Chr1:46197747

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340192789

rs_1264635358

1 SubmittersRCV002002554

NM_017739.4(POMGNT1):c.1152+1G>A

SNV
Germline

Chr1:46193173

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Conflicting Classifications

CA340179329

rs_1474858292

3 SubmittersRCV002023103 RCV002545583 RCV003471270

NM_017739.4(POMGNT1):c.752-2A>G

SNV
Germline

Chr1:46194403

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscle eye brain disease

Criteria Provided
Conflicting Classifications

CA340183587

rs_1236287516

4 SubmittersRCV001977399 RCV002573370 RCV003464340 RCV006639326

NM_017739.4(POMGNT1):c.1286G>T (p.Gly429Val)

SNV
Germline

Chr1:46192435

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA340176023

rs_751274265

1 SubmittersRCV002052420

NM_017739.4(POMGNT1):c.489C>T (p.Phe163=)

SNV
Germline

Chr1:46195856

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA417719063

rs_1379184772

2 SubmittersRCV002147518 RCV003889057

NM_017739.4(POMGNT1):c.316A>C (p.Ser106Arg)

SNV
Germline

Chr1:46196769

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
not specified

Criteria Provided
Conflicting Classifications

CA340191605

rs_756316567

2 SubmittersRCV002291307 RCV006459102

NM_017739.4(POMGNT1):c.235+2T>G

SNV
Germline

Chr1:46196968

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Multiple Submitters
No Conflicts

CA340191795

rs_2148218654

2 SubmittersRCV002249138 RCV003101338

NM_017739.4(POMGNT1):c.702G>A (p.Trp234Ter)

SNV
Unknown

Chr1:46194602

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA340184136

rs_2525428998

2 SubmittersRCV002307959

NM_017739.4(POMGNT1):c.1117A>T (p.Lys373Ter)

SNV
Unknown

Chr1:46193209

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA340179559

rs_752591703

1 SubmittersRCV002308147

NM_017739.4(POMGNT1):c.226C>T (p.Gln76Ter)

SNV
Unknown

Chr1:46196979

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA340191847

rs_972657462

1 SubmittersRCV002309302

NM_017739.4(POMGNT1):c.458C>A (p.Ser153Ter)

SNV
Unknown

Chr1:46195887

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA340188645

rs_1048865247

1 SubmittersRCV002310102

NM_017739.4(POMGNT1):c.333T>A (p.Tyr111Ter)

SNV
Unknown

Chr1:46196752

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA340191562

rs_752497984

1 SubmittersRCV002310292

NM_017739.4(POMGNT1):c.1686T>A (p.Cys562Ter)

SNV
Germline

Chr1:46189953

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA340171534

rs_2525345067

2 SubmittersRCV002465017 RCV005019210

NM_017739.4(POMGNT1):c.1609A>T (p.Lys537Ter)

SNV
Germline

Chr1:46190513

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Multiple Submitters
No Conflicts

CA340171842

rs_2525355533

4 SubmittersRCV003079779 RCV003459743 RCV006641206 RCV005863807

NM_017739.4(POMGNT1):c.1002A>C (p.Thr334=)

SNV
Germline

Chr1:46193588

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA833539

rs_768588675

2 SubmittersRCV003087070 RCV003889238

NM_017739.4(POMGNT1):c.751+2T>G

SNV
Germline

Chr1:46194551

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA340183654

rs_1658064113

1 SubmittersRCV002584017

NM_017739.4(POMGNT1):c.1411A>T (p.Lys471Ter)

SNV
Germline

Chr1:46192310

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA21912515

rs_1038334168

1 SubmittersRCV002630262

NM_017739.4(POMGNT1):c.1343G>A (p.Gly448Glu)

SNV
Germline

Chr1:46192378

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA340175384

rs_1226108463

1 SubmittersRCV002756817

NM_017739.4(POMGNT1):c.1A>G (p.Met1Val)

SNV
Germline

Chr1:46197821

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340193553

rs_1658367194

1 SubmittersRCV002846431

NM_017739.4(POMGNT1):c.33G>A (p.Lys11=)

SNV
Germline

Chr1:46197789

Conflicting classifications of pathogenicity

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA417720764

rs_2525476571

2 SubmittersRCV002851250 RCV003889169

NM_017739.4(POMGNT1):c.236-1G>C

SNV
Germline

Chr1:46196850

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA340191776

rs_1057516477

1 SubmittersRCV002872172

NM_017739.4(POMGNT1):c.1465G>T (p.Glu489Ter)

SNV
Germline

Chr1:46192172

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA340173739

rs_2148184028

1 SubmittersRCV002848232

NM_017739.4(POMGNT1):c.931C>G (p.Arg311Gly)

SNV
Germline

Chr1:46193874

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA340181518

rs_386834039

1 SubmittersRCV002867802

NM_017739.4(POMGNT1):c.1468T>G (p.Cys490Gly)

SNV
Germline

Chr1:46192169

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA340173683

rs_1657824312

1 SubmittersRCV002970689

NM_017739.4(POMGNT1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr1:46197819

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA833900

rs_774349262

1 SubmittersRCV002995547

NM_017739.4(POMGNT1):c.1352G>A (p.Trp451Ter)

SNV
Germline

Chr1:46192369

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA340175293

rs_2525387871

2 SubmittersRCV003026963 RCV004572608

NM_017739.4(POMGNT1):c.1826G>C (p.Arg609Pro)

SNV
Germline

Chr1:46189527

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA833218

rs_371741722

2 SubmittersRCV003129243 RCV005433357

NM_017739.4(POMGNT1):c.1804C>T (p.Leu602=)

SNV
Germline

Chr1:46189549

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Conflicting Classifications

CA833222

rs_752229468

2 SubmittersRCV003129263 RCV003778688

NM_017739.4(POMGNT1):c.1785+1G>C

SNV
Germline

Chr1:46189853

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA340171169

rs_2148166435

1 SubmittersRCV003312126

NM_017739.4(POMGNT1):c.879+2T>G

SNV
Unknown

Chr1:46194272

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA340182295

rs_1057516318

1 SubmittersRCV003463345

NM_017739.4(POMGNT1):c.1414-1G>T

SNV
Unknown

Chr1:46192224

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA340174492

rs_2525384059

1 SubmittersRCV003471722

NM_017739.4(POMGNT1):c.1414-2A>C

SNV
Unknown

Chr1:46192225

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA340174533

rs_2525384071

1 SubmittersRCV003463347

NM_017739.4(POMGNT1):c.640G>T (p.Gly214Ter)

SNV
Unknown

Chr1:46194856

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA340186458

rs_2525435346

1 SubmittersRCV003471725

NM_017739.4(POMGNT1):c.1398G>A (p.Trp466Ter)

SNV
Germline

Chr1:46192323

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Multiple Submitters
No Conflicts

CA340174854

rs_2525386608

2 SubmittersRCV003463349 RCV005030046

NM_017739.4(POMGNT1):c.1397G>A (p.Trp466Ter)

SNV
Unknown

Chr1:46192324

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA340174863

rs_2525386642

1 SubmittersRCV003471726

NM_017739.4(POMGNT1):c.296T>C (p.Leu99Pro)

SNV
Germline

Chr1:46196789

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease

Criteria Provided
Multiple Submitters
No Conflicts

CA340191646

rs_2525462732

3 SubmittersRCV003463350 RCV005021981 RCV006642945

NM_017739.4(POMGNT1):c.1585C>T (p.Gln529Ter)

SNV
Unknown

Chr1:46190739

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA340172442

rs_2525360161

1 SubmittersRCV003463352

NM_017739.4(POMGNT1):c.1650-2A>G

SNV
Germline

Chr1:46189991

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Multiple Submitters
No Conflicts

CA340171671

rs_2525345840

2 SubmittersRCV003463354 RCV005030047

NM_017739.4(POMGNT1):c.862G>T (p.Glu288Ter)

SNV
Unknown

Chr1:46194291

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA340182570

rs_1476814352

1 SubmittersRCV003471732

NM_017739.4(POMGNT1):c.1450C>T (p.Gln484Ter)

SNV
Unknown

Chr1:46192187

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

CA21912337

rs_367957647

1 SubmittersRCV003463355

NM_017739.4(POMGNT1):c.932G>C (p.Arg311Pro)

SNV
Germline

Chr1:46193873

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA833568

rs_193919336

1 SubmittersRCV003781525

NM_017739.4(POMGNT1):c.538G>T (p.Glu180Ter)

SNV
Germline

Chr1:46194958

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA340187515

rs_1176339464

1 SubmittersRCV003792961

NM_017739.4(POMGNT1):c.1835G>A (p.Trp612Ter)

SNV
Germline

Chr1:46189518

Pathogenic/Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA340170943

rs_2525336107

2 SubmittersRCV003791954 RCV004573327

NM_017739.4(POMGNT1):c.120+1G>A

SNV
Germline

Chr1:46197701

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA340192541

rs_1658353990

1 SubmittersRCV003791124

NM_017739.4(POMGNT1):c.1111-1G>A

SNV
Germline

Chr1:46193216

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA833483

rs_764266244

1 SubmittersRCV003796896

NM_017739.4(POMGNT1):c.1110+1G>T

SNV
Germline

Chr1:46193304

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

CA340179683

rs_1657940058

1 SubmittersRCV003800305

NM_017739.4(POMGNT1):c.1374C>G (p.Tyr458Ter)

SNV
Germline

Chr1:46192347

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA340175101

rs_2525387215

1 SubmittersRCV003810004

NM_017739.4(POMGNT1):c.94C>T (p.Gln32Ter)

SNV
Germline

Chr1:46197728

Pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O

Criteria Provided
Single Submitter

CA340192699

rs_2525475799

1 SubmittersRCV003807470

NM_017739.4(POMGNT1):c.1069C>T (p.Gln357Ter)

SNV
Germline

Chr1:46193346

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76

Criteria Provided
Multiple Submitters
No Conflicts

rs_750620615

2 SubmittersRCV004574602 RCV005015189

NM_017739.4(POMGNT1):c.49A>T (p.Lys17Ter)

SNV
Germline

Chr1:46197773

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Single Submitter

1 SubmittersRCV004764868

NM_017739.4(POMGNT1):c.359T>C (p.Leu120Pro)

SNV
Germline

Chr1:46196073

Conflicting classifications of pathogenicity

Retinal dystrophy
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004795323 RCV006455912

NM_017739.4(POMGNT1):c.701G>A (p.Trp234Ter)

SNV
Germline

Chr1:46194603

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

1 SubmittersRCV004797009

NM_017739.4(POMGNT1):c.1284+1G>A

SNV
Germline

Chr1:46192517

Likely pathogenic

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

1 SubmittersRCV005018468

NM_017739.4(POMGNT1):c.63G>A (p.Trp21Ter)

SNV
Germline

Chr1:46197759

Pathogenic

Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Criteria Provided
Single Submitter

1 SubmittersRCV005224632

NM_017739.4(POMGNT1):c.743C>G (p.Ser248Ter)

SNV
Germline

Chr1:46194561