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.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.1324C>T (p.Arg442Cys)	SNV Germline	Chr1:46192397	Pathogenic/Likely pathogenic	Condition: not provided 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 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 Muscular dystrophy-dystroglycanopathy Retinal dystrophy 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	Criteria Provided Multiple Submitters No Conflicts	CA116547	rs_28940869	12 SubmittersRCV000150001 RCV000984302 RCV000984210 RCV000984301 RCV000984303 RCV001219572 RCV002222337 RCV001847573 RCV002512738 RCV004814821 RCV005025002
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)	SNV Germline	Chr1:46193873	Pathogenic/Likely pathogenic	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 (congenital with brain and eye anomalies), type A3 Autosomal recessive limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy	Criteria Provided Multiple Submitters No Conflicts	CA211242	rs_193919336	8 SubmittersRCV000049989 RCV001370524 RCV001582464 RCV001847574 RCV002509144 RCV002512739
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 Muscle eye brain disease Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Congenital Muscular Dystrophy, alpha-dystroglycan related Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76 Structural eye disease	Criteria Provided Conflicting Classifications	CA116557	rs_74374973	15 SubmittersRCV000004204 RCV000081801 RCV000671438 RCV000710195 RCV001082774 RCV001097781 RCV001579237 RCV001449938 RCV001579238 RCV005400692
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	Criteria Provided Multiple Submitters No Conflicts	CA116563	rs_386834035	5 SubmittersRCV000004206 RCV000050018 RCV003466805 RCV002512741
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 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 Muscular dystrophy-dystroglycanopathy POMGNT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA116564	rs_267606960	11 SubmittersRCV000004207 RCV000411094 RCV000798530 RCV001091843 RCV002476922 RCV003460424 RCV002512742 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Conflicting Classifications	CA263935	rs_386834010	6 SubmittersRCV000049988 RCV000250383 RCV001045717 RCV005430113
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 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	Criteria Provided Multiple Submitters No Conflicts	CA263941	rs_386834012	6 SubmittersRCV000049991 RCV000292476 RCV000375211 RCV001853063 RCV000983991 RCV002514260 RCV003460639
NM_017739.4(POMGNT1):c.1319T>G (p.Leu440Arg)	SNV Unknown	Chr1:46192402	Likely pathogenic	Muscle eye brain disease	No Assertion Criteria Provided	CA263942	rs_386834013	1 SubmittersRCV000049992
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg)	SNV Germline	Chr1:46192379	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 Retinitis pigmentosa 76 Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy 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	Criteria Provided Conflicting Classifications	CA263945	rs_386834014	7 SubmittersRCV000049993 RCV002514262 RCV001542551 RCV003228903 RCV003460640 RCV002514261 RCV005025103
NM_017739.4(POMGNT1):c.1539+1G>A	SNV Germline	Chr1:46192097	Pathogenic	Muscle eye brain disease Condition: not provided POMGNT1-related disorder 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 Retinitis pigmentosa 76 Muscle eye brain disease Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Myopathy caused by variation in POMGNT1 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy 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 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy 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 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA234711	rs_138642840	25 SubmittersRCV000049995 RCV000153760 RCV000323217 RCV000648199 RCV000763345 RCV000501155 RCV002295277 RCV002470740 RCV000983990 RCV001030748 RCV001269143 RCV001196668 RCV005025104 RCV002514263 RCV005357428 RCV004814990
NM_017739.4(POMGNT1):c.1539+1G>T	SNV Germline	Chr1:46192097	Pathogenic	Muscle eye brain disease 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 Single Submitter	CA263949	rs_138642840	3 SubmittersRCV000049996 RCV005430480 RCV002513695
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 Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy	Criteria Provided Multiple Submitters No Conflicts	CA263951	rs_386834018	7 SubmittersRCV000049999 RCV000818740 RCV005051746 RCV003460641 RCV002514264
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 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 Muscular dystrophy-dystroglycanopathy	Criteria Provided Multiple Submitters No Conflicts	CA263954	rs_386834019	8 SubmittersRCV000050000 RCV000820354 RCV001542522 RCV002496725 RCV004566907 RCV002514265
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 Muscular dystrophy-dystroglycanopathy 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 intellectual disability), type B3 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA263958	rs_267606962	8 SubmittersRCV000050002 RCV001269853 RCV002513696 RCV001853064 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 Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy	Criteria Provided Multiple Submitters No Conflicts	CA263963	rs_386834024	8 SubmittersRCV000050005 RCV000240866 RCV001043665 RCV004700352 RCV001810415 RCV002513697
NM_017739.4(POMGNT1):c.1895+1G>T	SNV Germline	Chr1:46189457	Pathogenic/Likely pathogenic	Muscle eye brain disease 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 POMGNT1-related disorder Myopathy caused by variation in POMGNT1 Inborn genetic diseases Muscular dystrophy-dystroglycanopathy 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 (congenital with brain and eye anomalies), type A3 Retinitis pigmentosa 76	Criteria Provided Multiple Submitters No Conflicts	CA263964	rs_386834024	15 SubmittersRCV000050006 RCV000490077 RCV001005010 RCV000704718 RCV000778243 RCV002470741 RCV001266790 RCV002513698 RCV001810416 RCV005025105
NM_017739.4(POMGNT1):c.1896-1G>C	SNV Unknown	Chr1:46189358	Likely pathogenic	Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA263966	rs_386834025	2 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 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 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	Criteria Provided Multiple Submitters No Conflicts	CA263981	rs_386834034	10 SubmittersRCV000050017 RCV000408610 RCV000578838 RCV000984294 RCV000984295 RCV001062800 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	Criteria Provided Conflicting Classifications	CA263984	rs_386834036	3 SubmittersRCV000050019 RCV002514268 RCV003466919
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 Unknown	Chr1:46194269	Likely pathogenic	Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Single Submitter	CA263990	rs_386834038	2 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 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 Retinitis pigmentosa 76 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 intellectual disability), type B3 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA223256	rs_386834039	9 SubmittersRCV000050023 RCV000081807 RCV001039421 RCV000984204 RCV000984205 RCV000984300 RCV003466920 RCV005016348
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)	SNV Germline	Chr1:46196784	Conflicting classifications of pathogenicity	not specified Congenital Muscular Dystrophy, alpha-dystroglycan related Autosomal recessive limb-girdle muscular dystrophy type 2O Condition: not provided 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 POMGNT1-related disorder	Criteria Provided Conflicting Classifications	CA148807	rs_150576537	13 SubmittersRCV000081803 RCV000369008 RCV000312026 RCV000710196 RCV000667593 RCV001079365 RCV001449947 RCV004528294
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)	SNV Germline	Chr1:46194314	Conflicting classifications of pathogenicity	not specified 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 Condition: not provided Inborn genetic diseases Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 POMGNT1-related disorder	Criteria Provided Conflicting Classifications	CA295419	rs_142485035	10 SubmittersRCV000150000 RCV000763935 RCV001083649 RCV000725700 RCV002514874 RCV001333960 RCV004732704
NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser)	SNV Germline	Chr1:46196766	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 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscle eye brain disease Condition: not provided	Criteria Provided Conflicting Classifications	CA295425	rs_375420073	4 SubmittersRCV000763937 RCV000648197 RCV001272275 RCV003129788
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.421-7C>A	SNV Germline	Chr1:46195931	Conflicting classifications of pathogenicity	not specified 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 Condition: not provided Congenital Muscular Dystrophy, alpha-dystroglycan related POMGNT1-related disorder	Criteria Provided Conflicting Classifications	CA246764	rs_189274856	9 SubmittersRCV000179495 RCV000263792 RCV001081913 RCV001277259 RCV000724803 RCV000356295 RCV004539682
NM_017739.4(POMGNT1):c.549C>T (p.Phe183=)	SNV Germline	Chr1:46194947	Conflicting classifications of pathogenicity	not specified Condition: not provided Muscle eye brain disease Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 POMGNT1-related disorder	Criteria Provided Conflicting Classifications	CA247294	rs_140724142	5 SubmittersRCV000179953 RCV000724831 RCV001275754 RCV001088969 RCV004537498
NM_017739.4(POMGNT1):c.1285-6C>T	SNV Germline	Chr1:46192442	Conflicting classifications of pathogenicity	not specified 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 type 2O	Criteria Provided Conflicting Classifications	CA208497	rs_377292905	4 SubmittersRCV000194367 RCV001828017 RCV000814493 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 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Congenital Muscular Dystrophy, alpha-dystroglycan related Retinal dystrophy Muscle eye brain disease	Criteria Provided Conflicting Classifications	CA209243	rs_377724143	9 SubmittersRCV000194818 RCV000727160 RCV001096217 RCV000813907 RCV001096216 RCV004816323 RCV001275759
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 Retinitis pigmentosa 76 Muscle eye brain disease 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 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA833669	rs_190057175	10 SubmittersRCV000255207 RCV000695969 RCV000984299 RCV000984296 RCV000984297 RCV000984298 RCV002518761 RCV002500958 RCV003155140 RCV003463717
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 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 Conflicting Classifications	CA833347	rs_17102066	10 SubmittersRCV000268124 RCV000267239 RCV000354770 RCV000548277 RCV001833303 RCV001084521 RCV001333958
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 Muscle eye brain disease 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	CA833717	rs_138330966	6 SubmittersRCV000298962 RCV000386165 RCV001833327 RCV000395975 RCV001079550
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 Condition: not provided Muscle eye brain disease not specified Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA833545	rs_146933218	8 SubmittersRCV000295933 RCV000343795 RCV000725556 RCV001277253 RCV000385748 RCV001081570
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 Muscular dystrophy-dystroglycanopathy Retinal dystrophy 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 Conflicting Classifications	CA833537	rs_138745073	8 SubmittersRCV000324220 RCV000763934 RCV001855150 RCV002518961 RCV005411399 RCV003888676 RCV005016672
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 Retinal dystrophy Muscle eye brain disease	Criteria Provided Conflicting Classifications	CA833367	rs_544816408	7 SubmittersRCV000559267 RCV000407481 RCV004816507 RCV001277250
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.269G>A (p.Arg90His)	SNV Germline	Chr1:46196816	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 Muscle eye brain disease Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA833803	rs_139701867	7 SubmittersRCV000763938 RCV001275757 RCV000407599 RCV000524954 RCV002518127
NM_017739.4(POMGNT1):c.1284+9G>C	SNV Germline	Chr1:46192509	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	CA833417	rs_565797493	5 SubmittersRCV000346335 RCV000726491 RCV001079134 RCV001833408 RCV004543139
NM_017739.4(POMGNT1):c.1540-6C>T	SNV Germline	Chr1:46190790	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 Muscle eye brain disease	Criteria Provided Conflicting Classifications	CA833317	rs_770449394	3 SubmittersRCV000358125 RCV000303249 RCV000877564 RCV001833425
NM_017739.4(POMGNT1):c.251G>A (p.Arg84His)	SNV Germline	Chr1:46196834	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Inborn genetic diseases Muscle eye brain disease	Criteria Provided Conflicting Classifications	CA833808	rs_373866304	6 SubmittersRCV000521285 RCV000540487 RCV004659083 RCV001829507
NM_017739.4(POMGNT1):c.386G>A (p.Arg129Gln)	SNV Germline	Chr1:46196046	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscle eye brain disease Muscular dystrophy-dystroglycanopathy	Criteria Provided Conflicting Classifications	CA833755	rs_770188918	5 SubmittersRCV000554424 RCV000591176 RCV001200051 RCV001834803 RCV002530069
NM_017739.4(POMGNT1):c.1786-6C>T	SNV Germline	Chr1:46189573	Conflicting classifications of pathogenicity	Condition: not provided Muscle eye brain disease not specified Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	Criteria Provided Conflicting Classifications	CA833227	rs_202028128	4 SubmittersRCV000596002 RCV001275229 RCV001662641 RCV001484669
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=)	SNV Germline	Chr1:46190728	Conflicting classifications of pathogenicity	Condition: not provided not specified 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 POMGNT1-related disorder Muscle eye brain disease	Criteria Provided Conflicting Classifications	CA833311	rs_200730202	6 SubmittersRCV000592757 RCV001288362 RCV001449648 RCV001088509 RCV004530719 RCV001835873
NM_017739.4(POMGNT1):c.1099C>T (p.Arg367Cys)	SNV Germline	Chr1:46193316	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscle eye brain disease Muscular dystrophy-dystroglycanopathy	Criteria Provided Conflicting Classifications	CA833501	rs_36038536	3 SubmittersRCV000648205 RCV001835049 RCV005411526
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	6 SubmittersRCV000667582 RCV001855483 RCV003230564 RCV003459586 RCV004723051
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 (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 Condition: not provided Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA833345	rs_760705290	10 SubmittersRCV000668943 RCV001247989 RCV001731868 RCV001809739 RCV005027798 RCV005409712 RCV002531215 RCV003459603 RCV003889953
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)	SNV Germline	Chr1:46196047	Pathogenic/Likely pathogenic	Muscle eye brain disease 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 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	CA833756	rs_375431575	10 SubmittersRCV000674794 RCV001788317 RCV001810481 RCV001200334 RCV001244825 RCV002531361 RCV005019166
NM_017739.4(POMGNT1):c.1697T>C (p.Phe566Ser)	SNV Germline	Chr1:46189942	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	CA833260	rs_765906814	3 SubmittersRCV000693960 RCV001277249 RCV005623359
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	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 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 Condition: not provided Muscle eye brain disease 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	CA21916937	rs_386834035	6 SubmittersRCV000796490 RCV001508865 RCV001275751 RCV003461088 RCV005029460
NM_017739.4(POMGNT1):c.796C>T (p.Arg266Trp)	SNV Germline	Chr1:46194357	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 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 Muscle eye brain disease Autosomal recessive limb-girdle muscular dystrophy type 2O Congenital Muscular Dystrophy, alpha-dystroglycan related Retinal dystrophy POMGNT1-related disorder	Criteria Provided Conflicting Classifications	CA833742	rs_146237009	5 SubmittersRCV000950279 RCV001272274 RCV001097865 RCV001097866 RCV003890103 RCV004543562
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.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 Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA833208	rs_747723242	5 SubmittersRCV001095994 RCV001095995 RCV001277591 RCV003132226 RCV002069619 RCV003890235
NM_017739.4(POMGNT1):c.120+2T>A	SNV Germline	Chr1:46197700	Likely pathogenic	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 brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA340192535	rs_1658353874	3 SubmittersRCV001229087 RCV001828829 RCV004570569
NM_017739.4(POMGNT1):c.304G>T (p.Glu102Ter)	SNV Germline	Chr1:46196781	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	CA340191630	rs_749603354	3 SubmittersRCV001265639 RCV002537679 RCV003462842
NM_017739.4(POMGNT1):c.743C>G (p.Ser248Ter)	SNV Germline	Chr1:46194561	Likely pathogenic	Muscle eye brain disease	No Assertion Criteria Provided			1 SubmittersRCV005605895

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.1324C>T (p.Arg442Cys)

SNV
Germline

Chr1:46192397

Pathogenic/Likely pathogenic

Condition: not provided
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
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
Muscular dystrophy-dystroglycanopathy
Retinal dystrophy
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

Criteria Provided
Multiple Submitters
No Conflicts

CA116547

rs_28940869

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

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

SNV
Germline

Chr1:46193873

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA211242

rs_193919336

8 SubmittersRCV000049989 RCV001370524 RCV001582464 RCV001847574 RCV002509144 RCV002512739

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

Criteria Provided
Conflicting Classifications

CA116557

rs_74374973

15 SubmittersRCV000004204 RCV000081801 RCV000671438 RCV000710195 RCV001082774 RCV001097781 RCV001579237 RCV001449938 RCV001579238 RCV005400692

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116563

rs_386834035

5 SubmittersRCV000004206 RCV000050018 RCV003466805 RCV002512741

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
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
Muscular dystrophy-dystroglycanopathy
POMGNT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA116564

rs_267606960

11 SubmittersRCV000004207 RCV000411094 RCV000798530 RCV001091843 RCV002476922 RCV003460424 RCV002512742 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
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Conflicting Classifications

CA263935

rs_386834010

6 SubmittersRCV000049988 RCV000250383 RCV001045717 RCV005430113

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
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

Criteria Provided
Multiple Submitters
No Conflicts

CA263941

rs_386834012

6 SubmittersRCV000049991 RCV000292476 RCV000375211 RCV001853063 RCV000983991 RCV002514260 RCV003460639

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

SNV
Unknown

Chr1:46192402

Likely pathogenic

Muscle eye brain disease

No Assertion Criteria Provided

CA263942

rs_386834013

1 SubmittersRCV000049992

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

SNV
Germline

Chr1:46192379

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
Retinitis pigmentosa 76
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy
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

Criteria Provided
Conflicting Classifications

CA263945

rs_386834014

7 SubmittersRCV000049993 RCV002514262 RCV001542551 RCV003228903 RCV003460640 RCV002514261 RCV005025103

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

SNV
Germline

Chr1:46192097

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA234711

rs_138642840

25 SubmittersRCV000049995 RCV000153760 RCV000323217 RCV000648199 RCV000763345 RCV000501155 RCV002295277 RCV002470740 RCV000983990 RCV001030748 RCV001269143 RCV001196668 RCV005025104 RCV002514263 RCV005357428 RCV004814990

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

SNV
Germline

Chr1:46192097

Pathogenic

Muscle eye brain disease
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
Single Submitter

CA263949

rs_138642840

3 SubmittersRCV000049996 RCV005430480 RCV002513695

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

Criteria Provided
Multiple Submitters
No Conflicts

CA263951

rs_386834018

7 SubmittersRCV000049999 RCV000818740 RCV005051746 RCV003460641 RCV002514264

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
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
Muscular dystrophy-dystroglycanopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA263954

rs_386834019

8 SubmittersRCV000050000 RCV000820354 RCV001542522 RCV002496725 RCV004566907 RCV002514265

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
Muscular dystrophy-dystroglycanopathy
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 intellectual disability), type B3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA263958

rs_267606962

8 SubmittersRCV000050002 RCV001269853 RCV002513696 RCV001853064 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
Condition: not provided
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA263963

rs_386834024

8 SubmittersRCV000050005 RCV000240866 RCV001043665 RCV004700352 RCV001810415 RCV002513697

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

SNV
Germline

Chr1:46189457

Pathogenic/Likely pathogenic

Muscle eye brain disease
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
POMGNT1-related disorder
Myopathy caused by variation in POMGNT1
Inborn genetic diseases
Muscular dystrophy-dystroglycanopathy
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 (congenital with brain and eye anomalies), type A3
Retinitis pigmentosa 76

Criteria Provided
Multiple Submitters
No Conflicts

CA263964

rs_386834024

15 SubmittersRCV000050006 RCV000490077 RCV001005010 RCV000704718 RCV000778243 RCV002470741 RCV001266790 RCV002513698 RCV001810416 RCV005025105

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

SNV
Unknown

Chr1:46189358

Likely pathogenic

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

Criteria Provided
Single Submitter

CA263966

rs_386834025

2 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
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
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

Criteria Provided
Multiple Submitters
No Conflicts

CA263981

rs_386834034

10 SubmittersRCV000050017 RCV000408610 RCV000578838 RCV000984294 RCV000984295 RCV001062800 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

Criteria Provided
Conflicting Classifications

CA263984

rs_386834036

3 SubmittersRCV000050019 RCV002514268 RCV003466919

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
Unknown

Chr1:46194269

Likely pathogenic

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

Criteria Provided
Single Submitter

CA263990

rs_386834038

2 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
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
Retinitis pigmentosa 76
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 intellectual disability), type B3
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA223256

rs_386834039

9 SubmittersRCV000050023 RCV000081807 RCV001039421 RCV000984204 RCV000984205 RCV000984300 RCV003466920 RCV005016348

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

SNV
Germline

Chr1:46196784

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA148807

rs_150576537

13 SubmittersRCV000081803 RCV000369008 RCV000312026 RCV000710196 RCV000667593 RCV001079365 RCV001449947 RCV004528294

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

SNV
Germline

Chr1:46194314

Conflicting classifications of pathogenicity

not specified
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
Condition: not provided
Inborn genetic diseases
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
POMGNT1-related disorder

Criteria Provided
Conflicting Classifications

CA295419

rs_142485035

10 SubmittersRCV000150000 RCV000763935 RCV001083649 RCV000725700 RCV002514874 RCV001333960 RCV004732704

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

SNV
Germline

Chr1:46196766

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

Criteria Provided
Conflicting Classifications

CA295425

rs_375420073

4 SubmittersRCV000763937 RCV000648197 RCV001272275 RCV003129788

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.421-7C>A

SNV
Germline

Chr1:46195931

Conflicting classifications of pathogenicity

not specified
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
Condition: not provided
Congenital Muscular Dystrophy, alpha-dystroglycan related
POMGNT1-related disorder

Criteria Provided
Conflicting Classifications

CA246764

rs_189274856

9 SubmittersRCV000179495 RCV000263792 RCV001081913 RCV001277259 RCV000724803 RCV000356295 RCV004539682

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

SNV
Germline

Chr1:46194947

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA247294

rs_140724142

5 SubmittersRCV000179953 RCV000724831 RCV001275754 RCV001088969 RCV004537498

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

SNV
Germline

Chr1:46192442

Conflicting classifications of pathogenicity

not specified
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 type 2O

Criteria Provided
Conflicting Classifications

CA208497

rs_377292905

4 SubmittersRCV000194367 RCV001828017 RCV000814493 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
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Congenital Muscular Dystrophy, alpha-dystroglycan related
Retinal dystrophy
Muscle eye brain disease

Criteria Provided
Conflicting Classifications

CA209243

rs_377724143

9 SubmittersRCV000194818 RCV000727160 RCV001096217 RCV000813907 RCV001096216 RCV004816323 RCV001275759

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
Retinitis pigmentosa 76
Muscle eye brain disease
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
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
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA833669

rs_190057175

10 SubmittersRCV000255207 RCV000695969 RCV000984299 RCV000984296 RCV000984297 RCV000984298 RCV002518761 RCV002500958 RCV003155140 RCV003463717

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
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
Conflicting Classifications

CA833347

rs_17102066

10 SubmittersRCV000268124 RCV000267239 RCV000354770 RCV000548277 RCV001833303 RCV001084521 RCV001333958

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
Muscle eye brain disease
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

CA833717

rs_138330966

6 SubmittersRCV000298962 RCV000386165 RCV001833327 RCV000395975 RCV001079550

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

Criteria Provided
Conflicting Classifications

CA833545

rs_146933218

8 SubmittersRCV000295933 RCV000343795 RCV000725556 RCV001277253 RCV000385748 RCV001081570

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
Muscular dystrophy-dystroglycanopathy
Retinal dystrophy
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
Conflicting Classifications

CA833537

rs_138745073

8 SubmittersRCV000324220 RCV000763934 RCV001855150 RCV002518961 RCV005411399 RCV003888676 RCV005016672

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
Retinal dystrophy
Muscle eye brain disease

Criteria Provided
Conflicting Classifications

CA833367

rs_544816408

7 SubmittersRCV000559267 RCV000407481 RCV004816507 RCV001277250

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.269G>A (p.Arg90His)

SNV
Germline

Chr1:46196816

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

Criteria Provided
Conflicting Classifications

CA833803

rs_139701867

7 SubmittersRCV000763938 RCV001275757 RCV000407599 RCV000524954 RCV002518127

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

SNV
Germline

Chr1:46192509

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

CA833417

rs_565797493

5 SubmittersRCV000346335 RCV000726491 RCV001079134 RCV001833408 RCV004543139

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

SNV
Germline

Chr1:46190790

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
Muscle eye brain disease

Criteria Provided
Conflicting Classifications

CA833317

rs_770449394

3 SubmittersRCV000358125 RCV000303249 RCV000877564 RCV001833425

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

SNV
Germline

Chr1:46196834

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA833808

rs_373866304

6 SubmittersRCV000521285 RCV000540487 RCV004659083 RCV001829507

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

SNV
Germline

Chr1:46196046

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA833755

rs_770188918

5 SubmittersRCV000554424 RCV000591176 RCV001200051 RCV001834803 RCV002530069

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

SNV
Germline

Chr1:46189573

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA833227

rs_202028128

4 SubmittersRCV000596002 RCV001275229 RCV001662641 RCV001484669

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

SNV
Germline

Chr1:46190728

Conflicting classifications of pathogenicity

Condition: not provided
not specified
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
POMGNT1-related disorder
Muscle eye brain disease

Criteria Provided
Conflicting Classifications

CA833311

rs_200730202

6 SubmittersRCV000592757 RCV001288362 RCV001449648 RCV001088509 RCV004530719 RCV001835873

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

SNV
Germline

Chr1:46193316

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA833501

rs_36038536

3 SubmittersRCV000648205 RCV001835049 RCV005411526

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

6 SubmittersRCV000667582 RCV001855483 RCV003230564 RCV003459586 RCV004723051

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

Criteria Provided
Conflicting Classifications

CA833345

rs_760705290

10 SubmittersRCV000668943 RCV001247989 RCV001731868 RCV001809739 RCV005027798 RCV005409712 RCV002531215 RCV003459603 RCV003889953

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

SNV
Germline

Chr1:46196047

Pathogenic/Likely pathogenic

Muscle eye brain disease
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
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

CA833756

rs_375431575

10 SubmittersRCV000674794 RCV001788317 RCV001810481 RCV001200334 RCV001244825 RCV002531361 RCV005019166

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

SNV
Germline

Chr1:46189942

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

CA833260

rs_765906814

3 SubmittersRCV000693960 RCV001277249 RCV005623359

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

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

CA21916937

rs_386834035

6 SubmittersRCV000796490 RCV001508865 RCV001275751 RCV003461088 RCV005029460

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

SNV
Germline

Chr1:46194357

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA833742

rs_146237009

5 SubmittersRCV000950279 RCV001272274 RCV001097865 RCV001097866 RCV003890103 RCV004543562

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

Criteria Provided
Conflicting Classifications

CA833208

rs_747723242

5 SubmittersRCV001095994 RCV001095995 RCV001277591 RCV003132226 RCV002069619 RCV003890235

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

SNV
Germline

Chr1:46197700

Likely pathogenic

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 brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA340192535

rs_1658353874

3 SubmittersRCV001229087 RCV001828829 RCV004570569

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

SNV
Germline

Chr1:46196781

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

CA340191630

rs_749603354

3 SubmittersRCV001265639 RCV002537679 RCV003462842

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

SNV
Germline

Chr1:46194561

Likely pathogenic

Muscle eye brain disease

No Assertion Criteria Provided

1 SubmittersRCV005605895