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	Likely pathogenic	Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA116540	rs_193919335	3 SubmittersRCV000169201 RCV001847570
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)	SNV Germline	Chr1:46192397	Pathogenic/Likely pathogenic	Condition: not provided 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 Retinitis pigmentosa 76 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	CA116547	rs_28940869	10 SubmittersRCV000150001 RCV000984210 RCV000984301 RCV000984302 RCV001219572 RCV000984303 RCV001847573 RCV002222337 RCV002512738
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 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Congenital Muscular Dystrophy, alpha-dystroglycan related Retinitis pigmentosa 76	Criteria Provided Conflicting Classifications	CA116557	rs_74374973	14 SubmittersRCV000004204 RCV000081801 RCV000671438 RCV000710195 RCV001082774 RCV001579237 RCV001449938 RCV001097781 RCV001579238
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 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscle eye brain disease 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 RCV000824425 RCV000671290 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 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	Criteria Provided Conflicting Classifications	CA263935	rs_386834010	6 SubmittersRCV000049988 RCV000250383 RCV001045717
NM_017739.4(POMGNT1):c.1274G>C (p.Trp425Ser)	SNV Germline	Chr1:46192528	Conflicting classifications of pathogenicity	Muscle eye brain disease Muscular dystrophy-dystroglycanopathy	Criteria Provided Conflicting Classifications	CA263938	rs_386834011	3 SubmittersRCV000049990 RCV002514259
NM_017739.4(POMGNT1):c.1285-2A>G	SNV Germline	Chr1:46192438	Pathogenic/Likely pathogenic	Muscle eye brain disease POMGNT1-related disorder Retinitis pigmentosa 76 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA263941	rs_386834012	6 SubmittersRCV000049991 RCV000292476 RCV000983991 RCV000375211 RCV001853063 RCV002514260 RCV003460639
NM_017739.4(POMGNT1):c.1319T>G (p.Leu440Arg)	SNV Not provided	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 Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Conflicting Classifications	CA263945	rs_386834014	6 SubmittersRCV000049993 RCV001542551 RCV002514261 RCV002514262 RCV003228903 RCV003460640
NM_017739.4(POMGNT1):c.1539+1G>A	SNV Germline	Chr1:46192097	Conflicting classifications of pathogenicity	Muscle eye brain disease Condition: not provided POMGNT1-related disorder Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies 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 Retinitis pigmentosa 76 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Myopathy caused by variation in POMGNT1 Muscular dystrophy-dystroglycanopathy	Criteria Provided Conflicting Classifications	CA234711	rs_138642840	24 SubmittersRCV000049995 RCV000153760 RCV000323217 RCV000501155 RCV000648199 RCV000763345 RCV000983990 RCV001030748 RCV001196668 RCV001269143 RCV002295277 RCV002470740 RCV002514263
NM_017739.4(POMGNT1):c.1539+1G>T	SNV Germline	Chr1:46192097	Pathogenic	Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Multiple Submitters No Conflicts	CA263949	rs_138642840	3 SubmittersRCV000049996 RCV002513695
NM_017739.4(POMGNT1):c.1540-2A>G	SNV Not provided	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/Likely 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA263951	rs_386834018	6 SubmittersRCV000049999 RCV000818740 RCV002514264 RCV003460641
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)	SNV Germline	Chr1:46189870	Pathogenic/Likely pathogenic	Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Retinitis pigmentosa 76 Muscular dystrophy-dystroglycanopathy 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 (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA263954	rs_386834019	8 SubmittersRCV000050000 RCV000820354 RCV001542522 RCV002514265 RCV002496725 RCV004566907
NM_017739.4(POMGNT1):c.1785+2T>G	SNV Not provided	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 (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	Criteria Provided Multiple Submitters No Conflicts	CA263958	rs_267606962	7 SubmittersRCV000050002 RCV001269853 RCV001853064 RCV002513696 RCV003460642
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	Criteria Provided Multiple Submitters No Conflicts	CA263963	rs_386834024	7 SubmittersRCV000050005 RCV000240866 RCV001043665 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 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 POMGNT1-related disorder Autosomal recessive limb-girdle muscular dystrophy type 2O Inborn genetic diseases Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Myopathy caused by variation in POMGNT1 Muscular dystrophy-dystroglycanopathy	Criteria Provided Multiple Submitters No Conflicts	CA263964	rs_386834024	13 SubmittersRCV000050006 RCV000490077 RCV000704718 RCV000778243 RCV001005010 RCV001266790 RCV001810416 RCV002470741 RCV002513698
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 Not provided	Chr1:46194902	Likely pathogenic	Muscle eye brain disease	No Assertion Criteria Provided	CA263975	rs_386834032	1 SubmittersRCV000050015
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 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA263981	rs_386834034	9 SubmittersRCV000050017 RCV000408610 RCV000578838 RCV000984295 RCV000984294 RCV001062800 RCV002272048 RCV003460643
NM_017739.4(POMGNT1):c.667G>A (p.Glu223Lys)	SNV Germline	Chr1:46194637	Conflicting classifications of pathogenicity	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 Conflicting Classifications	CA263984	rs_386834036	3 SubmittersRCV000050019 RCV003466919 RCV002514268
NM_017739.4(POMGNT1):c.806G>A (p.Cys269Tyr)	SNV Not provided	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 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 brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts	CA223256	rs_386834039	8 SubmittersRCV000050023 RCV000081807 RCV001039421 RCV000984300 RCV000984204 RCV000984205 RCV003466920
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 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 RCV000312026 RCV000369008 RCV000710196 RCV000667593 RCV001079365 RCV001449947 RCV004528294
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	Criteria Provided Conflicting Classifications	CA295419	rs_142485035	9 SubmittersRCV000150000 RCV000725700 RCV000763935 RCV001083649 RCV001333960 RCV002514874
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 Muscle eye brain disease Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Muscle eye brain disease Condition: not provided	Criteria Provided Conflicting Classifications	CA295425	rs_375420073	4 SubmittersRCV000648197 RCV000763937 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 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	Criteria Provided Conflicting Classifications	CA246764	rs_189274856	9 SubmittersRCV000179495 RCV000263792 RCV000356295 RCV000724803 RCV001081913 RCV001277259 RCV004539682
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.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 Congenital Muscular Dystrophy, alpha-dystroglycan related Autosomal recessive limb-girdle muscular dystrophy type 2O Muscle eye brain disease	Criteria Provided Conflicting Classifications	CA209243	rs_377724143	8 SubmittersRCV000194818 RCV000727160 RCV000813907 RCV001096216 RCV001096217 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 Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O Retinitis pigmentosa 76 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 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 RCV000984296 RCV000984297 RCV000984298 RCV000984299 RCV002518761 RCV002500958 RCV003155140 RCV003463717
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)	SNV Germline	Chr1:46192127	Conflicting classifications of pathogenicity	not specified Congenital Muscular Dystrophy, alpha-dystroglycan related Autosomal recessive limb-girdle muscular dystrophy type 2O 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 Muscle eye brain disease	Criteria Provided Conflicting Classifications	CA833347	rs_17102066	10 SubmittersRCV000267239 RCV000268124 RCV000354770 RCV000548277 RCV001084521 RCV001333958 RCV001833303
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.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 Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Muscle eye brain disease Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Inborn genetic diseases Retinal dystrophy	Criteria Provided Conflicting Classifications	CA833537	rs_138745073	7 SubmittersRCV000324220 RCV000763934 RCV001855150 RCV002518961 RCV003888676
NM_017739.4(POMGNT1):c.1454G>A (p.Arg485His)	SNV Germline	Chr1:46192183	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	Criteria Provided Conflicting Classifications	CA833367	rs_544816408	6 SubmittersRCV000407481 RCV000559267 RCV001277250
NM_017739.4(POMGNT1):c.266G>A (p.Arg89Gln)	SNV Germline	Chr1:46196819	Conflicting classifications of pathogenicity	Condition: not provided Muscle eye brain disease Inborn genetic diseases Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Conflicting Classifications	CA833805	rs_200042607	4 SubmittersRCV000292083 RCV001272276 RCV002521993 RCV001057584
NM_017739.4(POMGNT1):c.269G>A (p.Arg90His)	SNV Germline	Chr1:46196816	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 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 Muscle eye brain disease Muscle eye brain disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA833803	rs_139701867	7 SubmittersRCV000524954 RCV000407599 RCV000763938 RCV001275757 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	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.1786-2A>G	SNV Unknown	Chr1:46189569	Likely pathogenic	Muscle eye brain disease	Criteria Provided Single Submitter	CA16040742	rs_1057517340	1 SubmittersRCV000409263
NM_017739.4(POMGNT1):c.880-2A>G	SNV Unknown	Chr1:46193927	Likely pathogenic	Muscle eye brain disease	Criteria Provided Single Submitter	CA16040751	rs_1057516830	1 SubmittersRCV000411269
NM_017739.4(POMGNT1):c.879+2T>C	SNV Unknown	Chr1:46194272	Likely pathogenic	Muscle eye brain disease	Criteria Provided Single Submitter	CA16040752	rs_1057516318	1 SubmittersRCV000412480
NM_017739.4(POMGNT1):c.354+1G>A	SNV Somatic	Chr1:46196730	Likely pathogenic	Muscle eye brain disease Condition: not provided	Criteria Provided Single Submitter	CA16040755	rs_1057517449	2 SubmittersRCV000411160 RCV002281641
NM_017739.4(POMGNT1):c.236-1G>T	SNV Germline	Chr1:46196850	Likely 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	CA16040756	rs_1057516477	3 SubmittersRCV000409804 RCV001377077 RCV003463789
NM_017739.4(POMGNT1):c.121-2A>G	SNV Unknown	Chr1:46197086	Likely pathogenic	Muscle eye brain disease	Criteria Provided Single Submitter	CA16040758	rs_1057516871	1 SubmittersRCV000412225
NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln)	SNV Germline	Chr1:46192174	Conflicting classifications of pathogenicity	Condition: not provided Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Retinitis pigmentosa 76 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	Criteria Provided Conflicting Classifications	CA833361	rs_766382416	4 SubmittersRCV000479982 RCV000984206 RCV000984207 RCV000984209 RCV000984208 RCV001368114 RCV002525910
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 Muscle eye brain disease	Criteria Provided Conflicting Classifications	CA833808	rs_373866304	4 SubmittersRCV000521285 RCV000540487 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 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.1099C>T (p.Arg367Cys)	SNV Germline	Chr1:46193316	Pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscle eye brain disease	Criteria Provided Single Submitter	CA833501	rs_36038536	2 SubmittersRCV000648205 RCV001835049
NM_017739.4(POMGNT1):c.1895+1G>C	SNV Germline	Chr1:46189457	Pathogenic/Likely pathogenic	Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Multiple Submitters No Conflicts		rs_386834024	2 SubmittersRCV000673103 RCV002531334
NM_017739.4(POMGNT1):c.1604+1G>A	SNV Germline	Chr1:46190719	Likely pathogenic	Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Multiple Submitters No Conflicts		rs_1553162873	2 SubmittersRCV000668367 RCV001855497
NM_017739.4(POMGNT1):c.880-1G>A	SNV Germline	Chr1:46193926	Pathogenic/Likely pathogenic	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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts		rs_1317832573	5 SubmittersRCV000667582 RCV001855483 RCV003230564 RCV003459586
NM_017739.4(POMGNT1):c.1786-1G>A	SNV Germline	Chr1:46189568	Likely pathogenic	Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Multiple Submitters No Conflicts		rs_1457667479	2 SubmittersRCV000667654 RCV003767958
NM_017739.4(POMGNT1):c.1649+2T>G	SNV Germline	Chr1:46190471	Likely pathogenic	Muscle eye brain disease 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		rs_1268759044	3 SubmittersRCV000668770 RCV003459601 RCV003767967
NM_017739.4(POMGNT1):c.1605-1G>C	SNV Germline	Chr1:46190518	Likely pathogenic	Muscle eye brain disease 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		rs_770219373	3 SubmittersRCV000670587 RCV003465500 RCV003767988
NM_017739.4(POMGNT1):c.1152+2T>C	SNV Unknown	Chr1:46193172	Likely pathogenic	Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts		rs_1553163335	2 SubmittersRCV000674268 RCV003465534
NM_017739.4(POMGNT1):c.1852A>T (p.Lys618Ter)	SNV Germline	Chr1:46189501	Pathogenic/Likely pathogenic	Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Multiple Submitters No Conflicts		rs_1553162663	2 SubmittersRCV000667729 RCV002530722
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)	SNV Germline	Chr1:46192124	Conflicting classifications of pathogenicity	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscle eye brain disease Retinal dystrophy 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 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Conflicting Classifications		rs_760705290	8 SubmittersRCV001809739 RCV000668943 RCV003889953 RCV001247989 RCV001731868 RCV002531215 RCV003459603
NM_017739.4(POMGNT1):c.1604+2T>C	SNV Unknown	Chr1:46190718	Pathogenic/Likely pathogenic	Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts		rs_1553162872	2 SubmittersRCV000665812 RCV004568495
NM_017739.4(POMGNT1):c.1212-1G>C	SNV Unknown	Chr1:46192591	Likely pathogenic	Muscle eye brain disease	Criteria Provided Single Submitter		rs_1553163254	1 SubmittersRCV000665626
NM_017739.4(POMGNT1):c.458C>G (p.Ser153Ter)	SNV Germline	Chr1:46195887	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		rs_1048865247	3 SubmittersRCV000666156 RCV001861750 RCV003465446
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)	SNV Germline	Chr1:46196047	Conflicting classifications of pathogenicity	Muscle eye brain disease 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 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 Muscular dystrophy-dystroglycanopathy	Criteria Provided Conflicting Classifications		rs_375431575	10 SubmittersRCV000674794 RCV001099667 RCV001200334 RCV001099668 RCV001244825 RCV001788317 RCV001810481 RCV002531361
NM_017739.4(POMGNT1):c.879+1G>C	SNV Unknown	Chr1:46194273	Likely pathogenic	Muscle eye brain disease	Criteria Provided Single Submitter		rs_1553163590	1 SubmittersRCV000664536
NM_017739.4(POMGNT1):c.653-2A>C	SNV Germline	Chr1:46194653	Likely pathogenic	Muscle eye brain disease Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Autosomal recessive limb-girdle muscular dystrophy type 2O	Criteria Provided Multiple Submitters No Conflicts		rs_1553163721	2 SubmittersRCV000666233 RCV002532050
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		rs_201637813	3 SubmittersRCV000819640 RCV001830799 RCV003132101
NM_017739.4(POMGNT1):c.652+1G>T	SNV Germline	Chr1:46194843	Pathogenic/Likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2O Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 Muscle eye brain disease Condition: not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	Criteria Provided Multiple Submitters No Conflicts		rs_386834035	5 SubmittersRCV000796490 RCV001275751 RCV001508865 RCV003461088
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		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		rs_146237009	5 SubmittersRCV000950279 RCV001097865 RCV001097866 RCV001272274 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		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 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		rs_747723242	5 SubmittersRCV001095994 RCV001095995 RCV001277591 RCV002069619 RCV003132226 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		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		rs_749603354	3 SubmittersRCV001265639 RCV002537679 RCV003462842

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

SNV
Germline

Chr1:46190473

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116540

rs_193919335

3 SubmittersRCV000169201 RCV001847570

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

SNV
Germline

Chr1:46192397

Pathogenic/Likely pathogenic

Condition: not provided
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
Retinitis pigmentosa 76
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

CA116547

rs_28940869

10 SubmittersRCV000150001 RCV000984210 RCV000984301 RCV000984302 RCV001219572 RCV000984303 RCV001847573 RCV002222337 RCV002512738

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

Criteria Provided
Conflicting Classifications

CA116557

rs_74374973

14 SubmittersRCV000004204 RCV000081801 RCV000671438 RCV000710195 RCV001082774 RCV001579237 RCV001449938 RCV001097781 RCV001579238

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
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscle eye brain disease
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 RCV000824425 RCV000671290 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
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

Criteria Provided
Conflicting Classifications

CA263935

rs_386834010

6 SubmittersRCV000049988 RCV000250383 RCV001045717

NM_017739.4(POMGNT1):c.1274G>C (p.Trp425Ser)

SNV
Germline

Chr1:46192528

Conflicting classifications of pathogenicity

Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy

Criteria Provided
Conflicting Classifications

CA263938

rs_386834011

3 SubmittersRCV000049990 RCV002514259

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

SNV
Germline

Chr1:46192438

Pathogenic/Likely pathogenic

Muscle eye brain disease
POMGNT1-related disorder
Retinitis pigmentosa 76
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
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA263941

rs_386834012

6 SubmittersRCV000049991 RCV000292476 RCV000983991 RCV000375211 RCV001853063 RCV002514260 RCV003460639

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

SNV
Not provided

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

Criteria Provided
Conflicting Classifications

CA263945

rs_386834014

6 SubmittersRCV000049993 RCV001542551 RCV002514261 RCV002514262 RCV003228903 RCV003460640

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

SNV
Germline

Chr1:46192097

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA234711

rs_138642840

24 SubmittersRCV000049995 RCV000153760 RCV000323217 RCV000501155 RCV000648199 RCV000763345 RCV000983990 RCV001030748 RCV001196668 RCV001269143 RCV002295277 RCV002470740 RCV002514263

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

SNV
Germline

Chr1:46192097

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA263949

rs_138642840

3 SubmittersRCV000049996 RCV002513695

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

SNV
Not provided

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

Criteria Provided
Multiple Submitters
No Conflicts

CA263951

rs_386834018

6 SubmittersRCV000049999 RCV000818740 RCV002514264 RCV003460641

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

SNV
Germline

Chr1:46189870

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA263954

rs_386834019

8 SubmittersRCV000050000 RCV000820354 RCV001542522 RCV002514265 RCV002496725 RCV004566907

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

SNV
Not provided

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 (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

Criteria Provided
Multiple Submitters
No Conflicts

CA263958

rs_267606962

7 SubmittersRCV000050002 RCV001269853 RCV001853064 RCV002513696 RCV003460642

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

Criteria Provided
Multiple Submitters
No Conflicts

CA263963

rs_386834024

7 SubmittersRCV000050005 RCV000240866 RCV001043665 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
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
POMGNT1-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2O
Inborn genetic diseases
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Myopathy caused by variation in POMGNT1
Muscular dystrophy-dystroglycanopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA263964

rs_386834024

13 SubmittersRCV000050006 RCV000490077 RCV000704718 RCV000778243 RCV001005010 RCV001266790 RCV001810416 RCV002470741 RCV002513698

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
Not provided

Chr1:46194902

Likely pathogenic

Muscle eye brain disease

No Assertion Criteria Provided

CA263975

rs_386834032

1 SubmittersRCV000050015

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

Criteria Provided
Multiple Submitters
No Conflicts

CA263981

rs_386834034

9 SubmittersRCV000050017 RCV000408610 RCV000578838 RCV000984295 RCV000984294 RCV001062800 RCV002272048 RCV003460643

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

SNV
Germline

Chr1:46194637

Conflicting classifications of pathogenicity

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
Conflicting Classifications

CA263984

rs_386834036

3 SubmittersRCV000050019 RCV003466919 RCV002514268

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

SNV
Not provided

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
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 brain and eye anomalies), type A3

Criteria Provided
Multiple Submitters
No Conflicts

CA223256

rs_386834039

8 SubmittersRCV000050023 RCV000081807 RCV001039421 RCV000984300 RCV000984204 RCV000984205 RCV003466920

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
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 RCV000312026 RCV000369008 RCV000710196 RCV000667593 RCV001079365 RCV001449947 RCV004528294

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

Criteria Provided
Conflicting Classifications

CA295419

rs_142485035

9 SubmittersRCV000150000 RCV000725700 RCV000763935 RCV001083649 RCV001333960 RCV002514874

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

Criteria Provided
Conflicting Classifications

CA295425

rs_375420073

4 SubmittersRCV000648197 RCV000763937 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
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

Criteria Provided
Conflicting Classifications

CA246764

rs_189274856

9 SubmittersRCV000179495 RCV000263792 RCV000356295 RCV000724803 RCV001081913 RCV001277259 RCV004539682

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.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
Congenital Muscular Dystrophy, alpha-dystroglycan related
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscle eye brain disease

Criteria Provided
Conflicting Classifications

CA209243

rs_377724143

8 SubmittersRCV000194818 RCV000727160 RCV000813907 RCV001096216 RCV001096217 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
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
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
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 RCV000984296 RCV000984297 RCV000984298 RCV000984299 RCV002518761 RCV002500958 RCV003155140 RCV003463717

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

SNV
Germline

Chr1:46192127

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA833347

rs_17102066

10 SubmittersRCV000267239 RCV000268124 RCV000354770 RCV000548277 RCV001084521 RCV001333958 RCV001833303

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

Criteria Provided
Conflicting Classifications

CA833537

rs_138745073

7 SubmittersRCV000324220 RCV000763934 RCV001855150 RCV002518961 RCV003888676

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

SNV
Germline

Chr1:46192183

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

Criteria Provided
Conflicting Classifications

CA833367

rs_544816408

6 SubmittersRCV000407481 RCV000559267 RCV001277250

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

SNV
Germline

Chr1:46196819

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA833805

rs_200042607

4 SubmittersRCV000292083 RCV001272276 RCV002521993 RCV001057584

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

SNV
Germline

Chr1:46196816

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
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
Muscle eye brain disease
Muscle eye brain disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA833803

rs_139701867

7 SubmittersRCV000524954 RCV000407599 RCV000763938 RCV001275757 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

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.1786-2A>G

SNV
Unknown

Chr1:46189569

Likely pathogenic

Muscle eye brain disease

Criteria Provided
Single Submitter

CA16040742

rs_1057517340

1 SubmittersRCV000409263

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

SNV
Unknown

Chr1:46193927

Likely pathogenic

Muscle eye brain disease

Criteria Provided
Single Submitter

CA16040751

rs_1057516830

1 SubmittersRCV000411269

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

SNV
Unknown

Chr1:46194272

Likely pathogenic

Muscle eye brain disease

Criteria Provided
Single Submitter

CA16040752

rs_1057516318

1 SubmittersRCV000412480

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

SNV
Somatic

Chr1:46196730

Likely pathogenic

Muscle eye brain disease
Condition: not provided

Criteria Provided
Single Submitter

CA16040755

rs_1057517449

2 SubmittersRCV000411160 RCV002281641

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

SNV
Germline

Chr1:46196850

Likely 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

CA16040756

rs_1057516477

3 SubmittersRCV000409804 RCV001377077 RCV003463789

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

SNV
Unknown

Chr1:46197086

Likely pathogenic

Muscle eye brain disease

Criteria Provided
Single Submitter

CA16040758

rs_1057516871

1 SubmittersRCV000412225

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

SNV
Germline

Chr1:46192174

Conflicting classifications of pathogenicity

Condition: not provided
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Retinitis pigmentosa 76
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

Criteria Provided
Conflicting Classifications

CA833361

rs_766382416

4 SubmittersRCV000479982 RCV000984206 RCV000984207 RCV000984209 RCV000984208 RCV001368114 RCV002525910

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
Muscle eye brain disease

Criteria Provided
Conflicting Classifications

CA833808

rs_373866304

4 SubmittersRCV000521285 RCV000540487 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
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.1099C>T (p.Arg367Cys)

SNV
Germline

Chr1:46193316

Pathogenic

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

Criteria Provided
Single Submitter

CA833501

rs_36038536

2 SubmittersRCV000648205 RCV001835049

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

SNV
Germline

Chr1:46189457

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_386834024

2 SubmittersRCV000673103 RCV002531334

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

SNV
Germline

Chr1:46190719

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553162873

2 SubmittersRCV000668367 RCV001855497

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

SNV
Germline

Chr1:46193926

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1317832573

5 SubmittersRCV000667582 RCV001855483 RCV003230564 RCV003459586

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

SNV
Germline

Chr1:46189568

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1457667479

2 SubmittersRCV000667654 RCV003767958

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

SNV
Germline

Chr1:46190471

Likely pathogenic

Muscle eye brain disease
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

rs_1268759044

3 SubmittersRCV000668770 RCV003459601 RCV003767967

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

SNV
Germline

Chr1:46190518

Likely pathogenic

Muscle eye brain disease
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

rs_770219373

3 SubmittersRCV000670587 RCV003465500 RCV003767988

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

SNV
Unknown

Chr1:46193172

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553163335

2 SubmittersRCV000674268 RCV003465534

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

SNV
Germline

Chr1:46189501

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553162663

2 SubmittersRCV000667729 RCV002530722

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

SNV
Germline

Chr1:46192124

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_760705290

8 SubmittersRCV001809739 RCV000668943 RCV003889953 RCV001247989 RCV001731868 RCV002531215 RCV003459603

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

SNV
Unknown

Chr1:46190718

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553162872

2 SubmittersRCV000665812 RCV004568495

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

SNV
Unknown

Chr1:46192591

Likely pathogenic

Muscle eye brain disease

Criteria Provided
Single Submitter

rs_1553163254

1 SubmittersRCV000665626

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

SNV
Germline

Chr1:46195887

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

rs_1048865247

3 SubmittersRCV000666156 RCV001861750 RCV003465446

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

SNV
Germline

Chr1:46196047

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_375431575

10 SubmittersRCV000674794 RCV001099667 RCV001200334 RCV001099668 RCV001244825 RCV001788317 RCV001810481 RCV002531361

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

SNV
Unknown

Chr1:46194273

Likely pathogenic

Muscle eye brain disease

Criteria Provided
Single Submitter

rs_1553163590

1 SubmittersRCV000664536

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

SNV
Germline

Chr1:46194653

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553163721

2 SubmittersRCV000666233 RCV002532050

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

rs_201637813

3 SubmittersRCV000819640 RCV001830799 RCV003132101

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

SNV
Germline

Chr1:46194843

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_386834035

5 SubmittersRCV000796490 RCV001275751 RCV001508865 RCV003461088

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

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

rs_146237009

5 SubmittersRCV000950279 RCV001097865 RCV001097866 RCV001272274 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

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
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

rs_747723242

5 SubmittersRCV001095994 RCV001095995 RCV001277591 RCV002069619 RCV003132226 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

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

rs_749603354

3 SubmittersRCV001265639 RCV002537679 RCV003462842