| 126754778 | CV1009860 | single nucleotide variant | NM_006876.3(B4GAT1):c.796C>T (p.Arg266Cys) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001316786] | uncertain significance | 11 | 66346750 | 66346750 | Human | 1 | alternate_id |
| 126768375 | CV1009861 | single nucleotide variant | NM_006876.3(B4GAT1):c.512G>C (p.Arg171Pro) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001321329] | uncertain significance | 11 | 66347034 | 66347034 | Human | 1 | alternate_id |
| 126762689 | CV1009862 | single nucleotide variant | NM_006876.3(B4GAT1):c.223G>A (p.Ala75Thr) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001319007] | uncertain significance | 11 | 66347323 | 66347323 | Human | 1 | alternate_id |
| 126762686 | CV1009863 | single nucleotide variant | NM_006876.3(B4GAT1):c.151C>T (p.Pro51Ser) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001319006] | uncertain significance | 11 | 66347395 | 66347395 | Human | 1 | alternate_id |
| 126921177 | CV1047400 | single nucleotide variant | NM_006876.3(B4GAT1):c.952G>A (p.Val318Met) | B4GAT1-related disorder [RCV003399188]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001374240] | uncertain significance | 11 | 66346594 | 66346594 | Human | 1 | alternate_id |
| 126923606 | CV1047401 | single nucleotide variant | NM_006876.3(B4GAT1):c.679G>A (p.Asp227Asn) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001366034] | uncertain significance | 11 | 66346867 | 66346867 | Human | 1 | alternate_id |
| 127283201 | CV1078543 | single nucleotide variant | NM_006876.3(B4GAT1):c.897C>G (p.Thr299=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001411610] | likely benign | 11 | 66346649 | 66346649 | Human | 1 | alternate_id |
| 127268393 | CV1078544 | single nucleotide variant | NM_006876.3(B4GAT1):c.327G>T (p.Leu109=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001404375] | likely benign | 11 | 66347219 | 66347219 | Human | 1 | alternate_id |
| 127242164 | CV1078545 | single nucleotide variant | NM_006876.3(B4GAT1):c.153G>A (p.Pro51=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001393296] | likely benign | 11 | 66347393 | 66347393 | Human | 1 | alternate_id |
| 127237261 | CV1078546 | single nucleotide variant | NM_006876.3(B4GAT1):c.132A>G (p.Gln44=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001414870] | likely benign | 11 | 66347414 | 66347414 | Human | 1 | alternate_id |
| 127239342 | CV1100272 | single nucleotide variant | NM_006876.3(B4GAT1):c.1242C>T (p.Arg414=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001423106] | likely benign | 11 | 66346055 | 66346055 | Human | 1 | alternate_id |
| 127272683 | CV1100273 | single nucleotide variant | NM_006876.3(B4GAT1):c.1077G>C (p.Ala359=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001431370] | likely benign | 11 | 66346220 | 66346220 | Human | 1 | alternate_id |
| 127267781 | CV1100274 | single nucleotide variant | NM_006876.3(B4GAT1):c.828G>A (p.Val276=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001440620] | likely benign | 11 | 66346718 | 66346718 | Human | 1 | alternate_id |
| 127238713 | CV1100275 | single nucleotide variant | NM_006876.3(B4GAT1):c.312C>T (p.Asp104=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001422971] | likely benign | 11 | 66347234 | 66347234 | Human | 1 | alternate_id |
| 127265489 | CV1100276 | single nucleotide variant | NM_006876.3(B4GAT1):c.192C>G (p.Arg64=) | B4GAT1-related disorder [RCV003900506]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001439969] | likely benign | 11 | 66347354 | 66347354 | Human | 1 | alternate_id |
| 127281271 | CV1100277 | single nucleotide variant | NM_006876.3(B4GAT1):c.156C>T (p.Ser52=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001447023] | likely benign | 11 | 66347390 | 66347390 | Human | 1 | alternate_id |
| 127257646 | CV1100278 | single nucleotide variant | NM_006876.3(B4GAT1):c.108G>A (p.Leu36=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001427152] | likely benign | 11 | 66347438 | 66347438 | Human | 1 | alternate_id |
| 127291436 | CV1121754 | single nucleotide variant | NM_006876.3(B4GAT1):c.1077G>A (p.Ala359=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001476079] | likely benign | 11 | 66346220 | 66346220 | Human | 1 | alternate_id |
| 127303045 | CV1121755 | single nucleotide variant | NM_006876.3(B4GAT1):c.1056+7A>T | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001461846] | likely benign | 11 | 66346483 | 66346483 | Human | 1 | alternate_id |
| 127301682 | CV1121756 | single nucleotide variant | NM_006876.3(B4GAT1):c.162G>A (p.Arg54=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001461456] | likely benign | 11 | 66347384 | 66347384 | Human | 1 | alternate_id |
| 127321691 | CV1142603 | single nucleotide variant | NM_006876.3(B4GAT1):c.951C>T (p.Tyr317=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001484637] | likely benign | 11 | 66346595 | 66346595 | Human | 1 | alternate_id |
| 127305149 | CV1142604 | single nucleotide variant | NM_006876.3(B4GAT1):c.870G>A (p.Gly290=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001479718] | likely benign | 11 | 66346676 | 66346676 | Human | 1 | alternate_id |
| 127329092 | CV1142605 | single nucleotide variant | NM_006876.3(B4GAT1):c.852G>A (p.Val284=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001487225] | likely benign | 11 | 66346694 | 66346694 | Human | 1 | alternate_id |
| 127301621 | CV1142606 | single nucleotide variant | NM_006876.3(B4GAT1):c.601C>T (p.Leu201=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001498893] | likely benign | 11 | 66346945 | 66346945 | Human | 1 | alternate_id |
| 127300304 | CV1142607 | single nucleotide variant | NM_006876.3(B4GAT1):c.363C>G (p.Ser121=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001498564] | likely benign | 11 | 66347183 | 66347183 | Human | 1 | alternate_id |
| 127335076 | CV1142608 | single nucleotide variant | NM_006876.3(B4GAT1):c.204C>T (p.Ala68=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001491266] | likely benign | 11 | 66347342 | 66347342 | Human | 1 | alternate_id |
| 150425437 | CV1184559 | single nucleotide variant | NM_006876.3(B4GAT1):c.76C>A (p.Gln26Lys) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001882643]|not provided [RCV001557986] | uncertain significance | 11 | 66347470 | 66347470 | Human | 1 | alternate_id |
| 151727522 | CV1241958 | single nucleotide variant | NM_006876.3(B4GAT1):c.1207G>T (p.Glu403Ter) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001844326] | pathogenic | 11 | 66346090 | 66346090 | Human | 1 | alternate_id |
| 150549383 | CV1295137 | single nucleotide variant | NM_006876.3(B4GAT1):c.447G>T (p.Met149Ile) | Inborn genetic diseases [RCV004968250]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002032812]|not provided [RCV001765098] | uncertain significance | 11 | 66347099 | 66347099 | Human | 2 | alternate_id |
| 150540741 | CV1298460 | single nucleotide variant | NM_006876.3(B4GAT1):c.338T>C (p.Leu113Pro) | Inborn genetic diseases [RCV004040153]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002540306]|not provided [RCV001760608] | uncertain significance | 11 | 66347208 | 66347208 | Human | 2 | alternate_id |
| 151800117 | CV1343971 | single nucleotide variant | NM_006876.3(B4GAT1):c.1045C>A (p.Arg349=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002028010] | likely benign|uncertain significance | 11 | 66346501 | 66346501 | Human | 1 | alternate_id |
| 151726661 | CV1352977 | single nucleotide variant | NM_006876.3(B4GAT1):c.667G>A (p.Ala223Thr) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001891806] | uncertain significance | 11 | 66346879 | 66346879 | Human | 1 | alternate_id |
| 151891358 | CV1356649 | single nucleotide variant | NM_006876.3(B4GAT1):c.1100A>G (p.Asn367Ser) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001943344] | uncertain significance | 11 | 66346197 | 66346197 | Human | 1 | alternate_id |
| 151768787 | CV1367554 | single nucleotide variant | NM_006876.3(B4GAT1):c.144C>A (p.Phe48Leu) | B4GAT1-related disorder [RCV004746466]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001863876] | uncertain significance | 11 | 66347402 | 66347402 | Human | 1 | alternate_id |
| 151863321 | CV1374383 | single nucleotide variant | NM_006876.3(B4GAT1):c.838C>A (p.Gln280Lys) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001884218] | uncertain significance | 11 | 66346708 | 66346708 | Human | 1 | alternate_id |
| 151830989 | CV1384523 | single nucleotide variant | NM_006876.3(B4GAT1):c.688A>C (p.Met230Leu) | Inborn genetic diseases [RCV002562867]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001955678] | uncertain significance | 11 | 66346858 | 66346858 | Human | 2 | alternate_id |
| 151846316 | CV1405708 | single nucleotide variant | NM_006876.3(B4GAT1):c.1090G>A (p.Glu364Lys) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001903482] | uncertain significance | 11 | 66346207 | 66346207 | Human | 1 | alternate_id |
| 151767272 | CV1410319 | single nucleotide variant | NM_006876.3(B4GAT1):c.586G>T (p.Gly196Trp) | Inborn genetic diseases [RCV005301037]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001987899] | uncertain significance | 11 | 66346960 | 66346960 | Human | 2 | alternate_id |
| 151756595 | CV1414264 | single nucleotide variant | NM_006876.3(B4GAT1):c.271G>A (p.Asp91Asn) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001894855]|not provided [RCV003312016] | uncertain significance | 11 | 66347275 | 66347275 | Human | 1 | alternate_id |
| 151826644 | CV1414824 | single nucleotide variant | NM_006876.3(B4GAT1):c.1240C>T (p.Arg414Cys) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001920086] | uncertain significance | 11 | 66346057 | 66346057 | Human | 1 | alternate_id |
| 151819626 | CV1416013 | single nucleotide variant | NM_006876.3(B4GAT1):c.496G>A (p.Ala166Thr) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001919437] | uncertain significance | 11 | 66347050 | 66347050 | Human | 1 | alternate_id |
| 151712779 | CV1423386 | single nucleotide variant | NM_006876.3(B4GAT1):c.409G>A (p.Val137Met) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002002308]|not provided [RCV003442975] | uncertain significance | 11 | 66347137 | 66347137 | Human | 1 | alternate_id |
| 151817773 | CV1436018 | single nucleotide variant | NM_006876.3(B4GAT1):c.1060T>C (p.Cys354Arg) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001975427] | uncertain significance | 11 | 66346237 | 66346237 | Human | 1 | alternate_id |
| 151747119 | CV1443986 | single nucleotide variant | NM_006876.3(B4GAT1):c.787C>G (p.Arg263Gly) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001893911] | uncertain significance | 11 | 66346759 | 66346759 | Human | 1 | alternate_id |
| 151850848 | CV1448616 | single nucleotide variant | NM_006876.3(B4GAT1):c.1151C>G (p.Pro384Arg) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001957967] | uncertain significance | 11 | 66346146 | 66346146 | Human | 1 | alternate_id |
| 151756546 | CV1449371 | single nucleotide variant | NM_006876.3(B4GAT1):c.241G>A (p.Val81Ile) | Inborn genetic diseases [RCV004045424]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001986804] | uncertain significance | 11 | 66347305 | 66347305 | Human | 2 | alternate_id |
| 151818272 | CV1449790 | single nucleotide variant | NM_006876.3(B4GAT1):c.1122G>A (p.Lys374=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001878961] | likely benign|uncertain significance | 11 | 66346175 | 66346175 | Human | 1 | alternate_id |
| 151733940 | CV1456701 | single nucleotide variant | NM_006876.3(B4GAT1):c.128A>G (p.Asp43Gly) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002041482] | uncertain significance | 11 | 66347418 | 66347418 | Human | 1 | alternate_id |
| 151713502 | CV1464136 | single nucleotide variant | NM_006876.3(B4GAT1):c.2T>C (p.Met1Thr) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001964759] | uncertain significance | 11 | 66347544 | 66347544 | Human | 1 | alternate_id |
| 151797111 | CV1467596 | single nucleotide variant | NM_006876.3(B4GAT1):c.553G>A (p.Val185Ile) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001952576] | uncertain significance | 11 | 66346993 | 66346993 | Human | 1 | alternate_id |
| 151757512 | CV1475112 | single nucleotide variant | NM_006876.3(B4GAT1):c.133T>C (p.Tyr45His) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001969816] | uncertain significance | 11 | 66347413 | 66347413 | Human | 1 | alternate_id |
| 151790831 | CV1475450 | single nucleotide variant | NM_006876.3(B4GAT1):c.955G>C (p.Val319Leu) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001973036] | uncertain significance | 11 | 66346591 | 66346591 | Human | 1 | alternate_id |
| 151740765 | CV1492479 | single nucleotide variant | NM_006876.3(B4GAT1):c.478C>G (p.Pro160Ala) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002042207] | uncertain significance | 11 | 66347068 | 66347068 | Human | 1 | alternate_id |
| 151756754 | CV1499055 | single nucleotide variant | NM_006876.3(B4GAT1):c.842T>G (p.Val281Gly) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002023925] | uncertain significance | 11 | 66346704 | 66346704 | Human | 1 | alternate_id |
| 151810608 | CV1506576 | single nucleotide variant | NM_006876.3(B4GAT1):c.506A>T (p.Asp169Val) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001918571] | uncertain significance | 11 | 66347040 | 66347040 | Human | 1 | alternate_id |
| 151709246 | CV1514871 | single nucleotide variant | NM_006876.3(B4GAT1):c.775G>A (p.Ala259Thr) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002001611] | uncertain significance | 11 | 66346771 | 66346771 | Human | 1 | alternate_id |
| 152055667 | CV1539110 | single nucleotide variant | NM_006876.3(B4GAT1):c.603G>C (p.Leu201=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002072899] | likely benign | 11 | 66346943 | 66346943 | Human | 1 | alternate_id |
| 152071500 | CV1543951 | single nucleotide variant | NM_006876.3(B4GAT1):c.36C>T (p.Tyr12=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002169351] | likely benign | 11 | 66347510 | 66347510 | Human | 1 | alternate_id |
| 152026790 | CV1583107 | single nucleotide variant | NM_006876.3(B4GAT1):c.1116T>G (p.Val372=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002084915] | likely benign | 11 | 66346181 | 66346181 | Human | 1 | alternate_id |
| 152052683 | CV1587434 | single nucleotide variant | NM_006876.3(B4GAT1):c.993A>G (p.Ala331=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002145877] | likely benign | 11 | 66346553 | 66346553 | Human | 1 | alternate_id |
| 152162839 | CV1606383 | single nucleotide variant | NM_006876.3(B4GAT1):c.861C>T (p.Phe287=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002181227] | likely benign | 11 | 66346685 | 66346685 | Human | 1 | alternate_id |
| 152036761 | CV1609899 | single nucleotide variant | NM_006876.3(B4GAT1):c.1074G>T (p.Val358=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002165075] | likely benign | 11 | 66346223 | 66346223 | Human | 1 | alternate_id |
| 152105634 | CV1614714 | single nucleotide variant | NM_006876.3(B4GAT1):c.984C>T (p.Phe328=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002079570] | likely benign | 11 | 66346562 | 66346562 | Human | 1 | alternate_id |
| 152087717 | CV1625978 | single nucleotide variant | NM_006876.3(B4GAT1):c.1209G>A (p.Glu403=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002131650] | likely benign | 11 | 66346088 | 66346088 | Human | 1 | alternate_id |
| 152044591 | CV1637871 | single nucleotide variant | NM_006876.3(B4GAT1):c.186G>A (p.Gln62=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002144937] | likely benign | 11 | 66347360 | 66347360 | Human | 1 | alternate_id |
| 152070043 | CV1640303 | single nucleotide variant | NM_006876.3(B4GAT1):c.1074G>A (p.Val358=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002147950] | likely benign | 11 | 66346223 | 66346223 | Human | 1 | alternate_id |
| 152123386 | CV1641117 | single nucleotide variant | NM_006876.3(B4GAT1):c.420C>T (p.Tyr140=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002098473] | likely benign | 11 | 66347126 | 66347126 | Human | 1 | alternate_id |
| 155643884 | CV1708195 | single nucleotide variant | NM_006876.3(B4GAT1):c.864T>A (p.Tyr288Ter) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002290184] | pathogenic | 11 | 66346682 | 66346682 | Human | 1 | alternate_id |
| 9850348 | CV181432 | insertion | NM_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV000162167]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000417196] | pathogenic|likely pathogenic | 11 | 66346724 | 66346725 | Human | 2 | alternate_id |
| 156390961 | CV1872751 | single nucleotide variant | NM_006876.3(B4GAT1):c.600G>A (p.Ala200=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003051312] | likely benign | 11 | 66346946 | 66346946 | Human | 1 | alternate_id |
| 156393803 | CV1876239 | single nucleotide variant | NM_006876.3(B4GAT1):c.85T>G (p.Tyr29Asp) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003068340] | uncertain significance | 11 | 66347461 | 66347461 | Human | 1 | alternate_id |
| 156382939 | CV1878327 | single nucleotide variant | NM_006876.3(B4GAT1):c.837C>T (p.Tyr279=) | B4GAT1-related disorder [RCV003973632]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003050632] | likely benign | 11 | 66346709 | 66346709 | Human | 1 | alternate_id |
| 155975487 | CV1885981 | single nucleotide variant | NM_006876.3(B4GAT1):c.572G>A (p.Arg191Lys) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003075394] | uncertain significance | 11 | 66346974 | 66346974 | Human | 1 | alternate_id |
| 156366174 | CV1906374 | single nucleotide variant | NM_006876.3(B4GAT1):c.675G>A (p.Val225=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003092073] | likely benign | 11 | 66346871 | 66346871 | Human | 1 | alternate_id |
| 155936832 | CV1917080 | single nucleotide variant | NM_006876.3(B4GAT1):c.576G>A (p.Val192=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002615365] | likely benign | 11 | 66346970 | 66346970 | Human | 1 | alternate_id |
| 156042688 | CV1926947 | single nucleotide variant | NM_006876.3(B4GAT1):c.819C>G (p.Asn273Lys) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002637643] | uncertain significance | 11 | 66346727 | 66346727 | Human | 1 | alternate_id |
| 156043864 | CV1927011 | single nucleotide variant | NM_006876.3(B4GAT1):c.342G>A (p.Glu114=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002637688] | likely benign | 11 | 66347204 | 66347204 | Human | 1 | alternate_id |
| 156449952 | CV1938509 | single nucleotide variant | NM_006876.3(B4GAT1):c.1118A>T (p.His373Leu) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003122084] | uncertain significance | 11 | 66346179 | 66346179 | Human | 1 | alternate_id |
| 156439608 | CV1939660 | duplication | NC_000011.9:g.(?_66099747)_(66291373_?)dup | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003109574] | uncertain significance | | | | Human | 1 | alternate_id |
| 156385528 | CV1961207 | single nucleotide variant | NM_006876.3(B4GAT1):c.1056+15G>A | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002583457] | likely benign | 11 | 66346475 | 66346475 | Human | 1 | alternate_id |
| 156252865 | CV1993582 | single nucleotide variant | NM_006876.3(B4GAT1):c.292G>A (p.Ala98Thr) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002627509] | uncertain significance | 11 | 66347254 | 66347254 | Human | 1 | alternate_id |
| 156339705 | CV1997499 | single nucleotide variant | NM_006876.3(B4GAT1):c.1137G>A (p.Ala379=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002650252] | likely benign | 11 | 66346160 | 66346160 | Human | 1 | alternate_id |
| 156303012 | CV2003523 | single nucleotide variant | NM_006876.3(B4GAT1):c.888G>A (p.Gln296=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002671248] | likely benign | 11 | 66346658 | 66346658 | Human | 1 | alternate_id |
| 156082230 | CV2012046 | single nucleotide variant | NM_006876.3(B4GAT1):c.590T>G (p.Ile197Ser) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002706026] | uncertain significance | 11 | 66346956 | 66346956 | Human | 1 | alternate_id |
| 156215482 | CV2015212 | single nucleotide variant | NM_006876.3(B4GAT1):c.471C>T (p.Leu157=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002700796] | likely benign | 11 | 66347075 | 66347075 | Human | 1 | alternate_id |
| 156232091 | CV2019819 | single nucleotide variant | NM_006876.3(B4GAT1):c.1056+17G>A | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002701399] | likely benign | 11 | 66346473 | 66346473 | Human | 1 | alternate_id |
| 155954564 | CV2033320 | single nucleotide variant | NM_006876.3(B4GAT1):c.1200C>G (p.Phe400Leu) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002730859] | uncertain significance | 11 | 66346097 | 66346097 | Human | 1 | alternate_id |
| 155949125 | CV2036242 | single nucleotide variant | NM_006876.3(B4GAT1):c.330G>A (p.Ser110=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002775674] | likely benign | 11 | 66347216 | 66347216 | Human | 1 | alternate_id |
| 156270916 | CV2055967 | single nucleotide variant | NM_006876.3(B4GAT1):c.872T>G (p.Leu291Trp) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002806657] | uncertain significance | 11 | 66346674 | 66346674 | Human | 1 | alternate_id |
| 156137707 | CV2105955 | single nucleotide variant | NM_006876.3(B4GAT1):c.1056+11G>A | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002914787] | likely benign | 11 | 66346479 | 66346479 | Human | 1 | alternate_id |
| 156015017 | CV2114320 | single nucleotide variant | NM_006876.3(B4GAT1):c.717C>G (p.Gly239=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002909317] | likely benign | 11 | 66346829 | 66346829 | Human | 1 | alternate_id |
| 156210551 | CV2117711 | single nucleotide variant | NM_006876.3(B4GAT1):c.240C>T (p.Arg80=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002957725] | likely benign | 11 | 66347306 | 66347306 | Human | 1 | alternate_id |
| 156005542 | CV2126549 | single nucleotide variant | NM_006876.3(B4GAT1):c.646G>C (p.Ala216Pro) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002975386] | uncertain significance | 11 | 66346900 | 66346900 | Human | 1 | alternate_id |
| 156033652 | CV2152742 | single nucleotide variant | NM_006876.3(B4GAT1):c.237C>T (p.Tyr79=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003018781] | likely benign | 11 | 66347309 | 66347309 | Human | 1 | alternate_id |
| 156179841 | CV2155373 | single nucleotide variant | NM_006876.3(B4GAT1):c.89T>C (p.Leu30Pro) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003005670] | uncertain significance | 11 | 66347457 | 66347457 | Human | 1 | alternate_id |
| 156362021 | CV2158931 | single nucleotide variant | NM_006876.3(B4GAT1):c.583C>T (p.Pro195Ser) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003031633] | uncertain significance | 11 | 66346963 | 66346963 | Human | 1 | alternate_id |
| 156396460 | CV2178203 | single nucleotide variant | NM_006876.3(B4GAT1):c.248G>T (p.Arg83Met) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003051888] | uncertain significance | 11 | 66347298 | 66347298 | Human | 1 | alternate_id |
| 156328099 | CV2184564 | single nucleotide variant | NM_006876.3(B4GAT1):c.79C>A (p.Leu27Met) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003047049] | uncertain significance | 11 | 66347467 | 66347467 | Human | 1 | alternate_id |
| 11350908 | CV237126 | single nucleotide variant | NM_006876.3(B4GAT1):c.1067T>C (p.Leu356Pro) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001243362]|not provided [RCV000224604] | uncertain significance | 11 | 66346230 | 66346230 | Human | 1 | alternate_id |
| 243064996 | CV2409443 | single nucleotide variant | NM_006876.3(B4GAT1):c.612T>G (p.Asn204Lys) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003143733] | uncertain significance | 11 | 66346934 | 66346934 | Human | 1 | alternate_id |
| 11548191 | CV254254 | single nucleotide variant | NM_006876.3(B4GAT1):c.117G>A (p.Gln39=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001520684]|not provided [RCV004718142]|not specified [RCV000248765] | benign | 11 | 66347429 | 66347429 | Human | 1 | alternate_id |
| 401724727 | CV2735760 | single nucleotide variant | NM_006876.3(B4GAT1):c.1152C>G (p.Pro384=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003581920]|not provided [RCV003312203] | likely benign | 11 | 66346145 | 66346145 | Human | 1 | alternate_id |
| 401944572 | CV2831778 | duplication | NM_006876.3(B4GAT1):c.1089dup (p.Glu364Ter) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003445427] | uncertain significance | 11 | 66346207 | 66346208 | Human | 1 | alternate_id |
| 405085366 | CV2874620 | single nucleotide variant | NM_006876.3(B4GAT1):c.480C>G (p.Pro160=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003582413] | likely benign | 11 | 66347066 | 66347066 | Human | 1 | alternate_id |
| 405091775 | CV2919433 | single nucleotide variant | NM_006876.3(B4GAT1):c.630C>T (p.Asn210=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003582866] | likely benign | 11 | 66346916 | 66346916 | Human | 1 | alternate_id |
| 405061096 | CV2948998 | single nucleotide variant | NM_006876.3(B4GAT1):c.69G>T (p.Ala23=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003741452] | likely benign | 11 | 66347477 | 66347477 | Human | 1 | alternate_id |
| 405072388 | CV3021140 | single nucleotide variant | NM_006876.3(B4GAT1):c.771G>A (p.Val257=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003742395] | likely benign | 11 | 66346775 | 66346775 | Human | 1 | alternate_id |
| 405073582 | CV3039019 | single nucleotide variant | NM_006876.3(B4GAT1):c.1057-13T>C | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003742477] | likely benign | 11 | 66346253 | 66346253 | Human | 1 | alternate_id |
| 405073962 | CV3042949 | single nucleotide variant | NM_006876.3(B4GAT1):c.582G>A (p.Gln194=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003742504] | likely benign | 11 | 66346964 | 66346964 | Human | 1 | alternate_id |
| 405052241 | CV3049163 | single nucleotide variant | NM_006876.3(B4GAT1):c.324C>T (p.His108=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003740714] | likely benign | 11 | 66347222 | 66347222 | Human | 1 | alternate_id |
| 405055916 | CV3062957 | single nucleotide variant | NM_006876.3(B4GAT1):c.1062C>T (p.Cys354=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003740909] | likely benign | 11 | 66346235 | 66346235 | Human | 1 | alternate_id |
| 405055598 | CV3068936 | single nucleotide variant | NM_006876.3(B4GAT1):c.79C>T (p.Leu27=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003740854] | likely benign | 11 | 66347467 | 66347467 | Human | 1 | alternate_id |
| 405188555 | CV3121253 | single nucleotide variant | NM_006876.3(B4GAT1):c.678C>A (p.Ile226=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003820709] | likely benign | 11 | 66346868 | 66346868 | Human | 1 | alternate_id |
| 597625880 | CV3624937 | single nucleotide variant | NM_006876.3(B4GAT1):c.148C>T (p.Pro50Ser) | Inborn genetic diseases [RCV004964825]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV005110012] | uncertain significance | 11 | 66347398 | 66347398 | Human | 2 | alternate_id |
| 597853129 | CV3737713 | single nucleotide variant | NM_006876.3(B4GAT1):c.1035C>T (p.Tyr345=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV005066486] | likely benign | 11 | 66346511 | 66346511 | Human | 1 | alternate_id |
| 597921338 | CV3738374 | single nucleotide variant | NM_006876.3(B4GAT1):c.867T>C (p.Tyr289=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV005074780] | likely benign | 11 | 66346679 | 66346679 | Human | 1 | alternate_id |
| 597895183 | CV3744108 | single nucleotide variant | NM_006876.3(B4GAT1):c.99G>A (p.Leu33=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV005071578] | likely benign | 11 | 66347447 | 66347447 | Human | 1 | alternate_id |
| 597837228 | CV3761466 | single nucleotide variant | NM_006876.3(B4GAT1):c.687C>T (p.Asp229=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV005085837] | likely benign | 11 | 66346859 | 66346859 | Human | 1 | alternate_id |
| 597937458 | CV3787882 | single nucleotide variant | NM_006876.3(B4GAT1):c.369G>A (p.Ser123=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV005132761] | likely benign | 11 | 66347177 | 66347177 | Human | 1 | alternate_id |
| 597934900 | CV3807153 | single nucleotide variant | NM_006876.3(B4GAT1):c.1057-19C>T | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV005157724] | likely benign | 11 | 66346259 | 66346259 | Human | 1 | alternate_id |
| 597960542 | CV3811917 | single nucleotide variant | NM_006876.3(B4GAT1):c.624C>T (p.Pro208=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV005163570] | likely benign | 11 | 66346922 | 66346922 | Human | 1 | alternate_id |
| 597901276 | CV3835503 | single nucleotide variant | NM_006876.3(B4GAT1):c.705G>A (p.Gly235=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV005181227] | likely benign | 11 | 66346841 | 66346841 | Human | 1 | alternate_id |
| 597922145 | CV3843197 | single nucleotide variant | NM_006876.3(B4GAT1):c.1057-20A>T | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV005184489] | likely benign | 11 | 66346260 | 66346260 | Human | 1 | alternate_id |
| 12901493 | CV408431 | single nucleotide variant | NM_006876.3(B4GAT1):c.1206G>A (p.Gln402=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000873815]|not specified [RCV000484809] | likely benign | 11 | 66346091 | 66346091 | Human | 1 | alternate_id |
| 12901026 | CV408432 | single nucleotide variant | NM_006876.3(B4GAT1):c.1136C>G (p.Ala379Gly) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000686916]|not provided [RCV000483718] | uncertain significance | 11 | 66346161 | 66346161 | Human | 1 | alternate_id |
| 12901602 | CV408433 | single nucleotide variant | NM_006876.3(B4GAT1):c.987C>T (p.Tyr329=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000560179]|not provided [RCV001704619] | benign|likely benign | 11 | 66346559 | 66346559 | Human | 1 | alternate_id |
| 12899204 | CV408434 | single nucleotide variant | NM_006876.3(B4GAT1):c.828G>T (p.Val276=) | B4GAT1-related disorder [RCV003942589]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000530462]|not provided [RCV001696891]|not specified [RCV000479684] | benign|likely benign | 11 | 66346718 | 66346718 | Human | 1 | alternate_id |
| 12900200 | CV408435 | single nucleotide variant | NM_006876.3(B4GAT1):c.510C>G (p.Pro170=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002056789]|not provided [RCV003409661]|not specified [RCV000481887] | likely benign | 11 | 66347036 | 66347036 | Human | 1 | alternate_id |
| 12902523 | CV408436 | single nucleotide variant | NM_006876.3(B4GAT1):c.363C>T (p.Ser121=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002063817]|not specified [RCV000487322] | likely benign | 11 | 66347183 | 66347183 | Human | 1 | alternate_id |
| 12901433 | CV408437 | single nucleotide variant | NM_006876.3(B4GAT1):c.196G>A (p.Ala66Thr) | B4GAT1-related disorder [RCV003960129]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001088666]|not provided [RCV000484662] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 66347350 | 66347350 | Human | 1 | alternate_id |
| 12901594 | CV408438 | single nucleotide variant | NM_006876.3(B4GAT1):c.177C>T (p.Val59=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV005090953]|not specified [RCV000485083] | likely benign | 11 | 66347369 | 66347369 | Human | 1 | alternate_id |
| 12899596 | CV408439 | single nucleotide variant | NM_006876.3(B4GAT1):c.69G>C (p.Ala23=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000541684]|not provided [RCV001704642] | likely benign | 11 | 66347477 | 66347477 | Human | 1 | alternate_id |
| 12906181 | CV415294 | single nucleotide variant | NM_006876.3(B4GAT1):c.226A>G (p.Ser76Gly) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000823196]|not provided [RCV000488914] | uncertain significance | 11 | 66347320 | 66347320 | Human | 1 | alternate_id |
| 13214165 | CV429276 | single nucleotide variant | NM_006876.3(B4GAT1):c.375C>T (p.Phe125=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV005091084]|not specified [RCV000500800] | likely benign | 11 | 66347171 | 66347171 | Human | 1 | alternate_id |
| 13481229 | CV461386 | single nucleotide variant | NM_006876.3(B4GAT1):c.1161G>A (p.Glu387=) | B4GAT1-related disorder [RCV003962586]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000528878]|not provided [RCV001558105] | benign|likely benign | 11 | 66346136 | 66346136 | Human | 1 | alternate_id |
| 13474300 | CV461397 | single nucleotide variant | NM_006876.3(B4GAT1):c.1009A>T (p.Thr337Ser) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000548189] | uncertain significance | 11 | 66346537 | 66346537 | Human | 1 | alternate_id |
| 13487461 | CV461398 | single nucleotide variant | NM_006876.3(B4GAT1):c.780C>T (p.Phe260=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000554293] | likely benign | 11 | 66346766 | 66346766 | Human | 1 | alternate_id |
| 13465863 | CV461901 | single nucleotide variant | NM_006876.3(B4GAT1):c.980C>A (p.Pro327Gln) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000543072] | uncertain significance | 11 | 66346566 | 66346566 | Human | 1 | alternate_id |
| 13481750 | CV461909 | single nucleotide variant | NM_006876.3(B4GAT1):c.460G>T (p.Ala154Ser) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000529102] | uncertain significance | 11 | 66347086 | 66347086 | Human | 1 | alternate_id |
| 13501945 | CV462240 | single nucleotide variant | NM_006876.3(B4GAT1):c.173A>G (p.Gln58Arg) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000541473] | uncertain significance | 11 | 66347373 | 66347373 | Human | 1 | alternate_id |
| 13531482 | CV503719 | single nucleotide variant | NM_006876.3(B4GAT1):c.1056+6C>G | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000651514]|not specified [RCV000606491] | likely benign|uncertain significance | 11 | 66346484 | 66346484 | Human | 1 | alternate_id |
| 13531205 | CV503722 | single nucleotide variant | NM_006876.3(B4GAT1):c.924G>A (p.Pro308=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000954549]|not provided [RCV001697867]|not specified [RCV001821739] | likely benign | 11 | 66346622 | 66346622 | Human | 1 | alternate_id |
| 13534892 | CV504318 | single nucleotide variant | NM_006876.3(B4GAT1):c.468C>T (p.His156=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002528657]|not specified [RCV000602040] | likely benign | 11 | 66347078 | 66347078 | Human | 1 | alternate_id |
| 13623800 | CV526447 | single nucleotide variant | NM_006876.3(B4GAT1):c.170A>C (p.Asp57Ala) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000651511] | uncertain significance | 11 | 66347376 | 66347376 | Human | 1 | alternate_id |
| 13623798 | CV526721 | single nucleotide variant | NM_006876.3(B4GAT1):c.665A>G (p.Tyr222Cys) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000651509] | uncertain significance | 11 | 66346881 | 66346881 | Human | 1 | alternate_id |
| 13623802 | CV526955 | single nucleotide variant | NM_006876.3(B4GAT1):c.1146C>G (p.Phe382Leu) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001079253]|not provided [RCV000828148] | benign|likely benign|uncertain significance | 11 | 66346151 | 66346151 | Human | 1 | alternate_id |
| 13623799 | CV526960 | single nucleotide variant | NM_006876.3(B4GAT1):c.582G>C (p.Gln194His) | Inborn genetic diseases [RCV002531978]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000651510] | uncertain significance | 11 | 66346964 | 66346964 | Human | 2 | alternate_id |
| 13623801 | CV526965 | single nucleotide variant | NM_006876.3(B4GAT1):c.220G>A (p.Asp74Asn) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000651512] | uncertain significance | 11 | 66347326 | 66347326 | Human | 1 | alternate_id |
| 13705868 | CV536818 | single nucleotide variant | NM_006876.3(B4GAT1):c.377C>T (p.Ala126Val) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001295240]|not provided [RCV000658418] | uncertain significance | 11 | 66347169 | 66347169 | Human | 1 | alternate_id |
| 13807578 | CV564854 | single nucleotide variant | NM_006876.3(B4GAT1):c.521G>T (p.Gly174Val) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000701209] | uncertain significance | 11 | 66347025 | 66347025 | Human | 1 | alternate_id |
| 13805262 | CV564857 | single nucleotide variant | NM_006876.3(B4GAT1):c.447G>C (p.Met149Ile) | Inborn genetic diseases [RCV003362906]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000699983]|not provided [RCV001571634] | uncertain significance | 11 | 66347099 | 66347099 | Human | 2 | alternate_id |
| 13821979 | CV564859 | single nucleotide variant | NM_006876.3(B4GAT1):c.278A>G (p.Asn93Ser) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000696647] | uncertain significance | 11 | 66347268 | 66347268 | Human | 1 | alternate_id |
| 13809704 | CV566094 | single nucleotide variant | NM_006876.3(B4GAT1):c.415G>T (p.Ala139Ser) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000701958] | uncertain significance | 11 | 66347131 | 66347131 | Human | 1 | alternate_id |
| 13812562 | CV567473 | single nucleotide variant | NM_006876.3(B4GAT1):c.688A>G (p.Met230Val) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000703778] | uncertain significance | 11 | 66346858 | 66346858 | Human | 1 | alternate_id |
| 13813111 | CV567476 | single nucleotide variant | NM_006876.3(B4GAT1):c.485G>A (p.Arg162His) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000704142] | uncertain significance | 11 | 66347061 | 66347061 | Human | 1 | alternate_id |
| 13821163 | CV570890 | single nucleotide variant | NM_006876.3(B4GAT1):c.758C>G (p.Thr253Ser) | Inborn genetic diseases [RCV002532305]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000695490]|not provided [RCV001559640] | uncertain significance | 11 | 66346788 | 66346788 | Human | 2 | alternate_id |
| 13814950 | CV570891 | single nucleotide variant | NM_006876.3(B4GAT1):c.355C>A (p.Pro119Thr) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000705377]|not provided [RCV001585656] | likely benign|uncertain significance | 11 | 66347191 | 66347191 | Human | 1 | alternate_id |
| 13809148 | CV570896 | single nucleotide variant | NM_006876.3(B4GAT1):c.37C>T (p.Gln13Ter) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000687619] | uncertain significance | 11 | 66347509 | 66347509 | Human | 1 | alternate_id |
| 14736515 | CV640359 | single nucleotide variant | NM_006876.3(B4GAT1):c.1022G>A (p.Arg341His) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000803643]|not provided [RCV004693304] | uncertain significance | 11 | 66346524 | 66346524 | Human | 1 | alternate_id |
| 14741492 | CV640360 | single nucleotide variant | NM_006876.3(B4GAT1):c.984C>G (p.Phe328Leu) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000822257]|not provided [RCV001766742] | uncertain significance | 11 | 66346562 | 66346562 | Human | 1 | alternate_id |
| 14741044 | CV640361 | single nucleotide variant | NM_006876.3(B4GAT1):c.514G>C (p.Glu172Gln) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000822074] | uncertain significance | 11 | 66347032 | 66347032 | Human | 1 | alternate_id |
| 14726018 | CV640362 | single nucleotide variant | NM_006876.3(B4GAT1):c.511C>A (p.Arg171=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000799048] | likely benign|uncertain significance | 11 | 66347035 | 66347035 | Human | 1 | alternate_id |
| 15127284 | CV693091 | single nucleotide variant | NM_006876.3(B4GAT1):c.717C>A (p.Gly239=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002064800] | likely benign | 11 | 66346829 | 66346829 | Human | 1 | alternate_id |
| 15127068 | CV693092 | single nucleotide variant | NM_006876.3(B4GAT1):c.297G>A (p.Thr99=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001391733] | likely benign | 11 | 66347249 | 66347249 | Human | 1 | alternate_id |
| 15116446 | CV693093 | single nucleotide variant | NM_006876.3(B4GAT1):c.162G>T (p.Arg54=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000873328]|not provided [RCV001577000] | likely benign | 11 | 66347384 | 66347384 | Human | 1 | alternate_id |
| 15124985 | CV693094 | single nucleotide variant | NM_006876.3(B4GAT1):c.152C>T (p.Pro51Leu) | B4GAT1-related disorder [RCV003908311]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV000874870] | likely benign | 11 | 66347394 | 66347394 | Human | 1 | alternate_id |
| 15140857 | CV695537 | single nucleotide variant | NM_006876.3(B4GAT1):c.1057-6C>T | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001403685] | likely benign | 11 | 66346246 | 66346246 | Human | 1 | alternate_id |
| 15109540 | CV713073 | single nucleotide variant | NM_006876.3(B4GAT1):c.1176C>T (p.His392=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001495716] | likely benign | 11 | 66346121 | 66346121 | Human | 1 | alternate_id |
| 15158776 | CV713074 | single nucleotide variant | NM_006876.3(B4GAT1):c.210A>T (p.Gly70=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001391756] | likely benign | 11 | 66347336 | 66347336 | Human | 1 | alternate_id |
| 15191081 | CV738180 | single nucleotide variant | NM_006876.3(B4GAT1):c.300C>T (p.His100=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001500565]|not provided [RCV003396541] | likely benign | 11 | 66347246 | 66347246 | Human | 1 | alternate_id |
| 15180193 | CV768637 | single nucleotide variant | NM_006876.3(B4GAT1):c.1152C>T (p.Pro384=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001474698] | likely benign | 11 | 66346145 | 66346145 | Human | 1 | alternate_id |
| 15182225 | CV768638 | single nucleotide variant | NM_006876.3(B4GAT1):c.289C>T (p.Leu97=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002066094] | likely benign | 11 | 66347257 | 66347257 | Human | 1 | alternate_id |
| 15190657 | CV768639 | single nucleotide variant | NM_006876.3(B4GAT1):c.185A>G (p.Gln62Arg) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV002544453] | likely benign | 11 | 66347361 | 66347361 | Human | 1 | alternate_id |
| 15123802 | CV784107 | single nucleotide variant | NM_006876.3(B4GAT1):c.441C>G (p.Pro147=) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001501062] | likely benign | 11 | 66347105 | 66347105 | Human | 1 | alternate_id |
| 26921231 | CV838805 | single nucleotide variant | NM_006876.3(B4GAT1):c.994G>A (p.Gly332Arg) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001060801] | uncertain significance | 11 | 66346552 | 66346552 | Human | 1 | alternate_id |
| 26912502 | CV838806 | single nucleotide variant | NM_006876.3(B4GAT1):c.772C>G (p.Pro258Ala) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001053581] | uncertain significance | 11 | 66346774 | 66346774 | Human | 1 | alternate_id |
| 26917569 | CV838807 | single nucleotide variant | NM_006876.3(B4GAT1):c.699C>A (p.Ser233Arg) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001057108] | uncertain significance | 11 | 66346847 | 66346847 | Human | 1 | alternate_id |
| 38477831 | CV926353 | single nucleotide variant | NM_006876.3(B4GAT1):c.1018G>A (p.Glu340Lys) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001216327] | uncertain significance | 11 | 66346528 | 66346528 | Human | 1 | alternate_id |
| 38481049 | CV926354 | single nucleotide variant | NM_006876.3(B4GAT1):c.835T>C (p.Tyr279His) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001217828] | uncertain significance | 11 | 66346711 | 66346711 | Human | 1 | alternate_id |
| 38489985 | CV935706 | single nucleotide variant | NM_006876.3(B4GAT1):c.1096C>A (p.Leu366Met) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001210449] | uncertain significance | 11 | 66346201 | 66346201 | Human | 1 | alternate_id |
| 38497626 | CV956598 | single nucleotide variant | NM_006876.3(B4GAT1):c.895A>G (p.Thr299Ala) | Inborn genetic diseases [RCV005286369]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001243288] | uncertain significance | 11 | 66346651 | 66346651 | Human | 2 | alternate_id |
| 38495999 | CV956599 | single nucleotide variant | NM_006876.3(B4GAT1):c.157C>T (p.Pro53Ser) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001242303] | uncertain significance | 11 | 66347389 | 66347389 | Human | 1 | alternate_id |
| 126753249 | CV994678 | single nucleotide variant | NM_006876.3(B4GAT1):c.780C>G (p.Phe260Leu) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001307363] | uncertain significance | 11 | 66346766 | 66346766 | Human | 1 | alternate_id |
| 126729115 | CV994679 | duplication | NM_006876.3(B4GAT1):c.748dup (p.Trp250fs) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV001303516] | uncertain significance | 11 | 66346797 | 66346798 | Human | 1 | alternate_id |
