| NM_017739.3(POMGNT1):c.751+8T>C |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000545938] |
Chr1:46194545 [GRCh38]
Chr1:46660217 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.386G>A (p.Arg129Gln) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000554424]|not specified [RCV000591176] |
Chr1:46196046 [GRCh38]
Chr1:46661718 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| POMGNT1, 9-BP DUP, -83 |
duplication |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000032931] |
Chr1:1p34-p33 |
pathogenic |
| NM_017739.3(POMGNT1):c.1413+1G>T |
single nucleotide variant |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004193] |
Chr1:46192307 [GRCh38]
Chr1:46657979 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_017739.3(POMGNT1):c.1413+1G>A |
single nucleotide variant |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004194] |
Chr1:46192307 [GRCh38]
Chr1:46657979 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_017739.3(POMGNT1):c.1649G>A (p.Ser550Asn) |
single nucleotide variant |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004195]|Muscle eye brain disease [RCV000169201] |
Chr1:46190473 [GRCh38]
Chr1:46656145 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_017739.3(POMGNT1):c.1719del (p.His573fs) |
deletion |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004196]|Muscle eye brain disease [RCV000049998] |
Chr1:46189920 [GRCh38]
Chr1:46655592 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_017739.3(POMGNT1):c.1478C>G (p.Pro493Arg) |
single nucleotide variant |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004197] |
Chr1:46192159 [GRCh38]
Chr1:46657831 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| POMGNT1, 1-BP DEL, 1970G |
deletion |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004198] |
Chr1:1p34-p33 |
pathogenic |
| NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) |
single nucleotide variant |
Congenital muscular dystrophy [RCV000150001]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004199]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000984301]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000984302]|Muscle eye brain disease [RCV000286327]|Muscle eye brain disease [RCV000984210]|Retinitis pigmentosa 76 [RCV000984303] |
Chr1:46192397 [GRCh38]
Chr1:46658069 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_017739.3(POMGNT1):c.932G>A (p.Arg311Gln) |
single nucleotide variant |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004200]|Muscle eye brain disease [RCV000049989] |
Chr1:46193873 [GRCh38]
Chr1:46659545 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_017739.3(POMGNT1):c.187C>T (p.Arg63Ter) |
single nucleotide variant |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004201]|RETINITIS PIGMENTOSA 76 [RCV000240891]|Retinitis pigmentosa 76 [RCV000240891] |
Chr1:46197018 [GRCh38]
Chr1:46662690 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_017739.3(POMGNT1):c.1832del (p.Leu611fs) |
deletion |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004202] |
Chr1:46189521 [GRCh38]
Chr1:46655193 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_017739.3(POMGNT1):c.1425G>A (p.Trp475Ter) |
single nucleotide variant |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004203] |
Chr1:46192212 [GRCh38]
Chr1:46657884 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_017739.3(POMGNT1):c.1666G>A (p.Asp556Asn) |
single nucleotide variant |
AllHighlyPenetrant [RCV000081801]|Congenital muscular dystrophy [RCV000150003]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000004204]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000526530]|Muscle eye brain disease [RCV000671438]|not provided [RCV000710195]|not specified [RCV000081801] |
Chr1:46189973 [GRCh38]
Chr1:46655645 [GRCh37]
Chr1:1p34.1 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_017739.3(POMGNT1):c.1814G>C (p.Arg605Pro) |
single nucleotide variant |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000004205]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000824425]|Muscle eye brain disease [RCV000671290] |
Chr1:46189539 [GRCh38]
Chr1:46655211 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_017739.3(POMGNT1):c.652+1G>A |
single nucleotide variant |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000004206]|Muscle eye brain disease [RCV000050018] |
Chr1:46194843 [GRCh38]
Chr1:46660515 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr) |
single nucleotide variant |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000004207]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000798530]|Muscle eye brain disease [RCV000411094]|Muscle eye brain disease [RCV000763346] |
Chr1:46192168 [GRCh38]
Chr1:46657840 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_017739.3(POMGNT1):c.1014C>T (p.Asp338=) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000546722] |
Chr1:46193576 [GRCh38]
Chr1:46659248 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1867G>A (p.Val623Met) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000547479]|Muscle eye brain disease [RCV000576431] |
Chr1:46189486 [GRCh38]
Chr1:46655158 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_017739.3(POMGNT1):c.107G>A (p.Arg36Gln) |
single nucleotide variant |
not provided [RCV000726806]|not specified [RCV000522304] |
Chr1:46197715 [GRCh38]
Chr1:46663387 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1855A>T (p.Asn619Tyr) |
single nucleotide variant |
not provided [RCV000727414]|not specified [RCV000521300] |
Chr1:46189498 [GRCh38]
Chr1:46655170 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) |
single nucleotide variant |
Muscle eye brain disease [RCV000049988]|not specified [RCV000250383] |
Chr1:46194359 [GRCh38]
Chr1:46660031 [GRCh37]
Chr1:1p34.1 |
likely pathogenic|likely benign|uncertain significance |
| NM_017739.3(POMGNT1):c.1274G>C (p.Trp425Ser) |
single nucleotide variant |
Muscle eye brain disease [RCV000049990] |
Chr1:46192528 [GRCh38]
Chr1:46658200 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.1285-2A>G |
single nucleotide variant |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000292476]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000375211]|Muscle eye brain disease [RCV000049991]|POMGNT1-Related Disorders [RCV000292476]|Retinitis pigmentosa 76 [RCV000983991] |
Chr1:46192438 [GRCh38]
Chr1:46658110 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_017739.3(POMGNT1):c.1319T>G (p.Leu440Arg) |
single nucleotide variant |
Muscle eye brain disease [RCV000049992] |
Chr1:46192402 [GRCh38]
Chr1:46658074 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.1342G>C (p.Gly448Arg) |
single nucleotide variant |
Muscle eye brain disease [RCV000049993] |
Chr1:46192379 [GRCh38]
Chr1:46658051 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_001290129.1(POMGNT1):c.1274_1278CTGGG[2] (p.Trp429fs) |
microsatellite |
Muscle eye brain disease [RCV000049994]|not provided [RCV000782031] |
Chr1:46192367..46192371 [GRCh38]
Chr1:46658039..46658043 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_017739.3(POMGNT1):c.1539+1G>A |
single nucleotide variant |
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies [RCV000501155]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000399153]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000306128]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648199]|Muscle eye brain disease [RCV000049995]|Muscle eye brain disease [RCV000763345]|POMGNT1-Related Disorders [RCV000323217]|Retinitis pigmentosa 76 [RCV000983990]|not provided [RCV000153760] |
Chr1:46192097 [GRCh38]
Chr1:46657769 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_017739.3(POMGNT1):c.1539+1G>T |
single nucleotide variant |
Muscle eye brain disease [RCV000049996] |
Chr1:46192097 [GRCh38]
Chr1:46657769 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_017739.3(POMGNT1):c.1540-2A>G |
single nucleotide variant |
Muscle eye brain disease [RCV000049997] |
Chr1:46190786 [GRCh38]
Chr1:46656458 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_001243766.1(POMGNT1):c.1719delC (p.His573Glnfs) |
deletion |
Muscle eye brain disease [RCV000049998] |
Chr1:46189920 [GRCh38]
Chr1:46655592 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.1738C>T (p.Arg580Ter) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000818740]|Muscle eye brain disease [RCV000049999] |
Chr1:46189901 [GRCh38]
Chr1:46655573 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_017739.3(POMGNT1):c.1769G>A (p.Trp590Ter) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000820354]|Muscle eye brain disease [RCV000050000] |
Chr1:46189870 [GRCh38]
Chr1:46655542 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_017739.3(POMGNT1):c.1785+2T>G |
single nucleotide variant |
Muscle eye brain disease [RCV000050001] |
Chr1:46189852 [GRCh38]
Chr1:46655524 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.1814G>A (p.Arg605His) |
single nucleotide variant |
Muscle eye brain disease [RCV000050002] |
Chr1:46189539 [GRCh38]
Chr1:46655211 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.1864del (p.Leu622fs) |
deletion |
Muscle eye brain disease [RCV000050003] |
Chr1:46189489 [GRCh38]
Chr1:46655161 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.1876del (p.Val626fs) |
deletion |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004198]|Muscle eye brain disease [RCV000050004] |
Chr1:46189477 [GRCh38]
Chr1:46655149 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_017739.3(POMGNT1):c.1895+1G>A |
single nucleotide variant |
Muscle eye brain disease [RCV000050005]|RETINITIS PIGMENTOSA 76 [RCV000240866]|Retinitis pigmentosa 76 [RCV000240866] |
Chr1:46189457 [GRCh38]
Chr1:46655129 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_017739.3(POMGNT1):c.1895+1G>T |
single nucleotide variant |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000366136]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000394027]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000704718]|Muscle eye brain disease [RCV000050006]|POMGNT1-Related Disorders [RCV000778243]|Retinitis pigmentosa 76 [RCV000983992]|not provided [RCV000490077] |
Chr1:46189457 [GRCh38]
Chr1:46655129 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_017739.3(POMGNT1):c.1895+5_1895+8del |
microsatellite |
Muscle eye brain disease [RCV000050007] |
Chr1:46189454..46189457 [GRCh38]
Chr1:46655126..46655129 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.1896-1G>C |
single nucleotide variant |
Muscle eye brain disease [RCV000050008] |
Chr1:46189358 [GRCh38]
Chr1:46655030 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.1928del (p.Phe643fs) |
deletion |
Muscle eye brain disease [RCV000050009] |
Chr1:46189325 [GRCh38]
Chr1:46654997 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.25dup (p.Leu9fs) |
duplication |
Muscle eye brain disease [RCV000050010] |
Chr1:46197797 [GRCh38]
Chr1:46663469 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.351del (p.Thr118fs) |
deletion |
Muscle eye brain disease [RCV000050011] |
Chr1:46196734 [GRCh38]
Chr1:46662406 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.447del (p.Phe149fs) |
deletion |
Muscle eye brain disease [RCV000050012] |
Chr1:46195898 [GRCh38]
Chr1:46661570 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.526A>C (p.Thr176Pro) |
single nucleotide variant |
Muscle eye brain disease [RCV000050013] |
Chr1:46195819 [GRCh38]
Chr1:46661491 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.593del (p.Ser198fs) |
deletion |
Muscle eye brain disease [RCV000050014] |
Chr1:46194903 [GRCh38]
Chr1:46660575 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.594C>G (p.Ser198Arg) |
single nucleotide variant |
Muscle eye brain disease [RCV000050015] |
Chr1:46194902 [GRCh38]
Chr1:46660574 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.630G>T (p.Trp210Cys) |
single nucleotide variant |
Muscle eye brain disease [RCV000050016] |
Chr1:46194866 [GRCh38]
Chr1:46660538 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter) |
single nucleotide variant |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000408610]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000984294]|Muscle eye brain disease [RCV000050017]|Retinitis pigmentosa 76 [RCV000984295]|not provided [RCV000578838] |
Chr1:46194853 [GRCh38]
Chr1:46660525 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_001243766.1(POMGNT1):c.652+1G>A |
single nucleotide variant |
Muscle eye brain disease [RCV000050018] |
Chr1:46194843 [GRCh38]
Chr1:46660515 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.667G>A (p.Glu223Lys) |
single nucleotide variant |
Muscle eye brain disease [RCV000050019] |
Chr1:46194637 [GRCh38]
Chr1:46660309 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.806G>A (p.Cys269Tyr) |
single nucleotide variant |
Muscle eye brain disease [RCV000050020] |
Chr1:46194347 [GRCh38]
Chr1:46660019 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.879+5G>A |
single nucleotide variant |
Muscle eye brain disease [RCV000050021] |
Chr1:46194269 [GRCh38]
Chr1:46659941 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.879+5G>T |
single nucleotide variant |
Muscle eye brain disease [RCV000050022] |
Chr1:46194269 [GRCh38]
Chr1:46659941 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter) |
single nucleotide variant |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000984300]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000984204]|Muscle eye brain disease [RCV000050023]|Retinitis pigmentosa 76 [RCV000984205]|not provided [RCV000081807] |
Chr1:46193874 [GRCh38]
Chr1:46659546 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_017739.3(POMGNT1):c.982dup (p.Val328fs) |
duplication |
Muscle eye brain disease [RCV000050024] |
Chr1:46193608 [GRCh38]
Chr1:46659280 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|See cases [RCV000051817] |
Chr1:39479787..47688131 [GRCh38]
Chr1:39945459..48153803 [GRCh37]
Chr1:39718046..47926390 [NCBI36]
Chr1:1p34.3-33 |
pathogenic |
| NM_017739.3(POMGNT1):c.236-13T>C |
single nucleotide variant |
AllHighlyPenetrant [RCV000081802]|not provided [RCV000828431]|not specified [RCV000081802] |
Chr1:46196862 [GRCh38]
Chr1:46662534 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_017739.3(POMGNT1):c.301G>A (p.Val101Ile) |
single nucleotide variant |
AllHighlyPenetrant [RCV000081803]|Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000369008]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000312026]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000539672]|Muscle eye brain disease [RCV000667593]|not provided [RCV000710196]|not specified [RCV000081803] |
Chr1:46196784 [GRCh38]
Chr1:46662456 [GRCh37]
Chr1:1p34.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017739.3(POMGNT1):c.582G>A (p.Arg194=) |
single nucleotide variant |
not specified [RCV000081804] |
Chr1:46194914 [GRCh38]
Chr1:46660586 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.681A>G (p.Lys227=) |
single nucleotide variant |
AllHighlyPenetrant [RCV000081805]|Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000343385]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000304915]|Muscle eye brain disease [RCV000576556]|not specified [RCV000081805] |
Chr1:46194623 [GRCh38]
Chr1:46660295 [GRCh37]
Chr1:1p34.1 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_017739.3(POMGNT1):c.92dup (p.Asn31fs) |
duplication |
not provided [RCV000081806] |
Chr1:46197730 [GRCh38]
Chr1:46663402 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_017739.3(POMGNT1):c.1257G>A (p.Leu419=) |
single nucleotide variant |
AllHighlyPenetrant [RCV000118028]|Congenital muscular dystrophy [RCV000149997]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000545377]|not provided [RCV000712840]|not specified [RCV000118028] |
Chr1:46192545 [GRCh38]
Chr1:46658217 [GRCh37]
Chr1:1p34.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017739.3(POMGNT1):c.-11G>A |
single nucleotide variant |
Congenital muscular dystrophy [RCV000127571]|not specified [RCV000127571] |
Chr1:46197832 [GRCh38]
Chr1:46663504 [GRCh37]
Chr1:1p34.1 |
benign |
| GRCh38/hg38 1p34.1(chr1:45488251-46220805)x3 |
copy number gain |
See cases [RCV000137659] |
Chr1:45488251..46220805 [GRCh38]
Chr1:45953923..46686477 [GRCh37]
Chr1:45726510..46459064 [NCBI36]
Chr1:1p34.1 |
uncertain significance |
| GRCh38/hg38 1p34.1(chr1:45469848-46220805)x3 |
copy number gain |
See cases [RCV000141255] |
Chr1:45469848..46220805 [GRCh38]
Chr1:45935520..46686477 [GRCh37]
Chr1:45708107..46459064 [NCBI36]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_017739.3(POMGNT1):c.1298C>T (p.Thr433Met) |
single nucleotide variant |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000260800]|Congenital muscular dystrophy [RCV000149998]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000318279]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000534361]|Muscle eye brain disease [RCV000679858]|not provided [RCV000175089]|not provided [RCV000710194]|not specified [RCV000242900] |
Chr1:46192423 [GRCh38]
Chr1:46658095 [GRCh37]
Chr1:1p34.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017739.3(POMGNT1):c.1540-16C>T |
single nucleotide variant |
Congenital muscular dystrophy [RCV000149999]|not specified [RCV000149999] |
Chr1:46190800 [GRCh38]
Chr1:46656472 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_017739.3(POMGNT1):c.839G>A (p.Ser280Asn) |
single nucleotide variant |
Congenital muscular dystrophy [RCV000150000]|Muscle eye brain disease [RCV000763935]|not provided [RCV000725700]|not specified [RCV000150000] |
Chr1:46194314 [GRCh38]
Chr1:46659986 [GRCh37]
Chr1:1p34.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017739.3(POMGNT1):c.1502T>C (p.Phe501Ser) |
single nucleotide variant |
Congenital muscular dystrophy [RCV000150002] |
Chr1:46192135 [GRCh38]
Chr1:46657807 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.319C>A (p.Arg107Ser) |
single nucleotide variant |
Congenital muscular dystrophy [RCV000150004]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648197]|Muscle eye brain disease [RCV000763937] |
Chr1:46196766 [GRCh38]
Chr1:46662438 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1867= (p.Val623=) |
single nucleotide variant |
not specified [RCV000153758] |
Chr1:46189486 [GRCh38]
Chr1:46655158 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_017739.3(POMGNT1):c.1831C>T (p.Leu611=) |
single nucleotide variant |
not specified [RCV000153759] |
Chr1:46189522 [GRCh38]
Chr1:46655194 [GRCh37]
Chr1:1p34.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017739.3(POMGNT1):c.1490G>A (p.Arg497Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV000622475]|not specified [RCV000153761] |
Chr1:46192147 [GRCh38]
Chr1:46657819 [GRCh37]
Chr1:1p34.1 |
likely pathogenic|uncertain significance |
| NM_017739.3(POMGNT1):c.1462C>G (p.Arg488Gly) |
single nucleotide variant |
not specified [RCV000153762] |
Chr1:46192175 [GRCh38]
Chr1:46657847 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.87G>A (p.Leu29=) |
single nucleotide variant |
not specified [RCV000175881] |
Chr1:46197735 [GRCh38]
Chr1:46663407 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.636C>T (p.Phe212=) |
single nucleotide variant |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000984297]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000695969]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000984298]|Muscle eye brain disease [RCV000984296]|Retinitis pigmentosa 76 [RCV000984299]|not provided [RCV000255207] |
Chr1:46194860 [GRCh38]
Chr1:46660532 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_017739.3(POMGNT1):c.1011dup (p.Asp338Ter) |
duplication |
Muscle eye brain disease [RCV000169509] |
Chr1:46193579 [GRCh38]
Chr1:46659251 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.1142A>G (p.Asn381Ser) |
single nucleotide variant |
not specified [RCV000193707] |
Chr1:46193184 [GRCh38]
Chr1:46658856 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1285-6C>T |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000814493]|not specified [RCV000194367] |
Chr1:46192442 [GRCh38]
Chr1:46658114 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.421-7C>A |
single nucleotide variant |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000356295]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000263792]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000533286]|not provided [RCV000724803]|not specified [RCV000179495] |
Chr1:46195931 [GRCh38]
Chr1:46661603 [GRCh37]
Chr1:1p34.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017739.3(POMGNT1):c.549C>T (p.Phe183=) |
single nucleotide variant |
not provided [RCV000724831]|not specified [RCV000179953] |
Chr1:46194947 [GRCh38]
Chr1:46660619 [GRCh37]
Chr1:1p34.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017739.3(POMGNT1):c.38T>C (p.Phe13Ser) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000813907]|not provided [RCV000727160]|not specified [RCV000194818] |
Chr1:46197784 [GRCh38]
Chr1:46663456 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1413+1G>C |
single nucleotide variant |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 [RCV000192386] |
Chr1:46192307 [GRCh38]
Chr1:46657979 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_017739.3(POMGNT1):c.1783A>G (p.Lys595Glu) |
single nucleotide variant |
not specified [RCV000193782] |
Chr1:46189856 [GRCh38]
Chr1:46655528 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.960C>G (p.Arg320=) |
single nucleotide variant |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000343795]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000295933]|not provided [RCV000725556]|not specified [RCV000385748] |
Chr1:46193630 [GRCh38]
Chr1:46659302 [GRCh37]
Chr1:1p34.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017739.3(POMGNT1):c.1540-6C>T |
single nucleotide variant |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000358125]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000303249]|not provided [RCV000877564] |
Chr1:46190790 [GRCh38]
Chr1:46656462 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_017739.3(POMGNT1):c.486A>G (p.Leu162=) |
single nucleotide variant |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000298962]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000395975]|not specified [RCV000386165] |
Chr1:46195859 [GRCh38]
Chr1:46661531 [GRCh37]
Chr1:1p34.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017739.3(POMGNT1):c.46C>T (p.Arg16Trp) |
single nucleotide variant |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000378567]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000286400]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000553660]|not specified [RCV000321112] |
Chr1:46197776 [GRCh38]
Chr1:46663448 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.959G>T (p.Arg320Leu) |
single nucleotide variant |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000289829]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000401912] |
Chr1:46193631 [GRCh38]
Chr1:46659303 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1510G>A (p.Val504Ile) |
single nucleotide variant |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000268124]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000354770]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000548277]|not specified [RCV000267239] |
Chr1:46192127 [GRCh38]
Chr1:46657799 [GRCh37]
Chr1:1p34.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017739.3(POMGNT1):c.466G>A (p.Glu156Lys) |
single nucleotide variant |
RETINITIS PIGMENTOSA 76 [RCV000240928]|Retinitis pigmentosa 76 [RCV000240928] |
Chr1:46195879 [GRCh38]
Chr1:46661551 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_017739.3(POMGNT1):c.1895C>G (p.Ser632Ter) |
single nucleotide variant |
not provided [RCV000384080] |
Chr1:46189458 [GRCh38]
Chr1:46655130 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_017739.3(POMGNT1):c.1880C>T (p.Pro627Leu) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000525778] |
Chr1:46189473 [GRCh38]
Chr1:46655145 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 |
copy number loss |
not provided [RCV000762767] |
Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12 |
likely benign |
| NM_001243766.1(POMGNT1):c.1962_1964TCC[1] (p.Pro656del) |
microsatellite |
Muscle eye brain disease [RCV000670603] |
Chr1:46189260..46189262 [GRCh38]
Chr1:46654931..46654934 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1605-1G>C |
single nucleotide variant |
Muscle eye brain disease [RCV000670587] |
Chr1:46190518 [GRCh38]
Chr1:46656190 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.813A>C (p.Lys271Asn) |
single nucleotide variant |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000347143]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000406624] |
Chr1:46194340 [GRCh38]
Chr1:46660012 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1927T>G (p.Phe643Val) |
single nucleotide variant |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000306770]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000394019]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000822620]|not specified [RCV000307681] |
Chr1:46189326 [GRCh38]
Chr1:46654998 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.652+19A>G |
single nucleotide variant |
not specified [RCV000599875] |
Chr1:46194825 [GRCh38]
Chr1:46660497 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1513G>A (p.Gly505Ser) |
single nucleotide variant |
Muscle eye brain disease [RCV000668943] |
Chr1:46192124 [GRCh38]
Chr1:46657796 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1505G>C (p.Gly502Ala) |
single nucleotide variant |
RETINITIS PIGMENTOSA 76 [RCV000240894]|Retinitis pigmentosa 76 [RCV000240894] |
Chr1:46192132 [GRCh38]
Chr1:46657804 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_017739.3(POMGNT1):c.355-27C>T |
single nucleotide variant |
not specified [RCV000250875] |
Chr1:46196104 [GRCh38]
Chr1:46661776 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1785+46C>T |
single nucleotide variant |
not specified [RCV000246405] |
Chr1:46189808 [GRCh38]
Chr1:46655480 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.235+33T>G |
single nucleotide variant |
not specified [RCV000253882] |
Chr1:46196937 [GRCh38]
Chr1:46662609 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_017739.3(POMGNT1):c.251G>A (p.Arg84His) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000540487]|not specified [RCV000521285] |
Chr1:46196834 [GRCh38]
Chr1:46662506 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.129C>T (p.Ala43=) |
single nucleotide variant |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000381350]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000270884]|not provided [RCV000732410] |
Chr1:46197076 [GRCh38]
Chr1:46662748 [GRCh37]
Chr1:1p34.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017739.3(POMGNT1):c.534+40C>A |
single nucleotide variant |
not specified [RCV000242026] |
Chr1:46195771 [GRCh38]
Chr1:46661443 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1785+31C>A |
single nucleotide variant |
not specified [RCV000254414] |
Chr1:46189823 [GRCh38]
Chr1:46655495 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.880-39G>C |
single nucleotide variant |
not specified [RCV000242341] |
Chr1:46193964 [GRCh38]
Chr1:46659636 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1027-44A>G |
single nucleotide variant |
not provided [RCV000830213]|not specified [RCV000252026] |
Chr1:46193432 [GRCh38]
Chr1:46659104 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_017739.3(POMGNT1):c.1895+30A>G |
single nucleotide variant |
not specified [RCV000242379] |
Chr1:46189428 [GRCh38]
Chr1:46655100 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_017739.3(POMGNT1):c.120+13C>T |
single nucleotide variant |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000340979]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000283595]|not specified [RCV000245127] |
Chr1:46197689 [GRCh38]
Chr1:46663361 [GRCh37]
Chr1:1p34.1 |
benign|uncertain significance |
| NM_017739.3(POMGNT1):c.277A>G (p.Ser93Gly) |
single nucleotide variant |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000276303]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000333727] |
Chr1:46196808 [GRCh38]
Chr1:46662480 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1111-23C>T |
single nucleotide variant |
not specified [RCV000243209] |
Chr1:46193238 [GRCh38]
Chr1:46658910 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_017739.3(POMGNT1):c.359T>G (p.Leu120Arg) |
single nucleotide variant |
RETINITIS PIGMENTOSA 76 [RCV000240931]|Retinitis pigmentosa 76 [RCV000240931] |
Chr1:46196073 [GRCh38]
Chr1:46661745 [GRCh37]
Chr1:46434332 [NCBI36]
Chr1:1p34.1 |
pathogenic |
| NM_017739.3(POMGNT1):c.860T>G (p.Ile287Ser) |
single nucleotide variant |
RETINITIS PIGMENTOSA 76 [RCV000240954]|Retinitis pigmentosa 76 [RCV000240954] |
Chr1:46194293 [GRCh38]
Chr1:46659965 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_001243766.1(POMGNT1):c.2147C>T (p.Ala716Val) |
single nucleotide variant |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000350895]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000296026] |
Chr1:46188819 [GRCh38]
Chr1:46654491 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1077T>C (p.Thr359=) |
single nucleotide variant |
not specified [RCV000270489] |
Chr1:46193338 [GRCh38]
Chr1:46659010 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.396T>C (p.His132=) |
single nucleotide variant |
not specified [RCV000303433] |
Chr1:46196036 [GRCh38]
Chr1:46661708 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1050G>T (p.Leu350=) |
single nucleotide variant |
not specified [RCV000337960] |
Chr1:46193365 [GRCh38]
Chr1:46659037 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.503C>T (p.Ala168Val) |
single nucleotide variant |
not specified [RCV000271426] |
Chr1:46195842 [GRCh38]
Chr1:46661514 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.758A>T (p.Glu253Val) |
single nucleotide variant |
not specified [RCV000271137] |
Chr1:46194395 [GRCh38]
Chr1:46660067 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1111-6T>C |
single nucleotide variant |
not specified [RCV000306178] |
Chr1:46193221 [GRCh38]
Chr1:46658893 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.461C>T (p.Pro154Leu) |
single nucleotide variant |
not specified [RCV000375207] |
Chr1:46195884 [GRCh38]
Chr1:46661556 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1979C>T (p.Thr660Ile) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648196]|not specified [RCV000376153] |
Chr1:46189274 [GRCh38]
Chr1:46654946 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1536T>C (p.Phe512=) |
single nucleotide variant |
not specified [RCV000378371] |
Chr1:46192101 [GRCh38]
Chr1:46657773 [GRCh37]
Chr1:1p34.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017739.3(POMGNT1):c.208G>A (p.Glu70Lys) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000695339]|not provided [RCV000725149]|not specified [RCV000379549] |
Chr1:46196997 [GRCh38]
Chr1:46662669 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1457G>A (p.Arg486Gln) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648194]|not specified [RCV000312122] |
Chr1:46192180 [GRCh38]
Chr1:46657852 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1284+9G>C |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000560608]|not provided [RCV000726491]|not specified [RCV000346335] |
Chr1:46192509 [GRCh38]
Chr1:46658181 [GRCh37]
Chr1:1p34.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017739.3(POMGNT1):c.561C>G (p.Asp187Glu) |
single nucleotide variant |
not specified [RCV000281001] |
Chr1:46194935 [GRCh38]
Chr1:46660607 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.664G>A (p.Gly222Arg) |
single nucleotide variant |
not specified [RCV000281302] |
Chr1:46194640 [GRCh38]
Chr1:46660312 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.958C>T (p.Arg320Cys) |
single nucleotide variant |
not specified [RCV000315823] |
Chr1:46193632 [GRCh38]
Chr1:46659304 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1379A>C (p.Glu460Ala) |
single nucleotide variant |
not specified [RCV000319103] |
Chr1:46192342 [GRCh38]
Chr1:46658014 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.286C>T (p.Arg96Trp) |
single nucleotide variant |
not provided [RCV000658410]|not specified [RCV000390554] |
Chr1:46196799 [GRCh38]
Chr1:46662471 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1457G>T (p.Arg486Leu) |
single nucleotide variant |
not specified [RCV000286944] |
Chr1:46192180 [GRCh38]
Chr1:46657852 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.652+6G>A |
single nucleotide variant |
not provided [RCV000726485]|not specified [RCV000287773] |
Chr1:46194838 [GRCh38]
Chr1:46660510 [GRCh37]
Chr1:1p34.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017739.3(POMGNT1):c.452C>T (p.Thr151Met) |
single nucleotide variant |
not specified [RCV000354413] |
Chr1:46195893 [GRCh38]
Chr1:46661565 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.120+3A>G |
single nucleotide variant |
not specified [RCV000395118] |
Chr1:46197699 [GRCh38]
Chr1:46663371 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.266G>A (p.Arg89Gln) |
single nucleotide variant |
not specified [RCV000292083] |
Chr1:46196819 [GRCh38]
Chr1:46662491 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1010T>C (p.Ile337Thr) |
single nucleotide variant |
Muscle eye brain disease [RCV000763934]|not specified [RCV000324220] |
Chr1:46193580 [GRCh38]
Chr1:46659252 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.444G>A (p.Val148=) |
single nucleotide variant |
not specified [RCV000325355] |
Chr1:46195901 [GRCh38]
Chr1:46661573 [GRCh37]
Chr1:1p34.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017739.3(POMGNT1):c.652+8C>T |
single nucleotide variant |
not specified [RCV000325705] |
Chr1:46194836 [GRCh38]
Chr1:46660508 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.355-9A>G |
single nucleotide variant |
not specified [RCV000395745] |
Chr1:46196086 [GRCh38]
Chr1:46661758 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1139T>C (p.Phe380Ser) |
single nucleotide variant |
not specified [RCV000396441] |
Chr1:46193187 [GRCh38]
Chr1:46658859 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.289C>T (p.Arg97Trp) |
single nucleotide variant |
not provided [RCV000875472]|not specified [RCV000292805] |
Chr1:46196796 [GRCh38]
Chr1:46662468 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_017739.3(POMGNT1):c.1539C>T (p.His513=) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000701199]|not specified [RCV000291524] |
Chr1:46192098 [GRCh38]
Chr1:46657770 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1923A>C (p.Pro641=) |
single nucleotide variant |
not specified [RCV000362367] |
Chr1:46189330 [GRCh38]
Chr1:46655002 [GRCh37]
Chr1:1p34.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017739.3(POMGNT1):c.1813C>T (p.Arg605Cys) |
single nucleotide variant |
not specified [RCV000397961] |
Chr1:46189540 [GRCh38]
Chr1:46655212 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1157C>T (p.Ala386Val) |
single nucleotide variant |
not specified [RCV000295360] |
Chr1:46192954 [GRCh38]
Chr1:46658626 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.418A>G (p.Thr140Ala) |
single nucleotide variant |
not specified [RCV000294699] |
Chr1:46196014 [GRCh38]
Chr1:46661686 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1476C>A (p.Ile492=) |
single nucleotide variant |
not specified [RCV000295348] |
Chr1:46192161 [GRCh38]
Chr1:46657833 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1825C>T (p.Arg609Trp) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000812443]|not specified [RCV000297578] |
Chr1:46189528 [GRCh38]
Chr1:46655200 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.268C>T (p.Arg90Cys) |
single nucleotide variant |
not specified [RCV000331025] |
Chr1:46196817 [GRCh38]
Chr1:46662489 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.788G>A (p.Arg263His) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000816918]|not specified [RCV000331122] |
Chr1:46194365 [GRCh38]
Chr1:46660037 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.172A>G (p.Ile58Val) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000537268]|not specified [RCV000402167] |
Chr1:46197033 [GRCh38]
Chr1:46662705 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1911C>T (p.Pro637=) |
single nucleotide variant |
not specified [RCV000368977] |
Chr1:46189342 [GRCh38]
Chr1:46655014 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.706G>C (p.Asp236His) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000547254]|not specified [RCV000369380] |
Chr1:46194598 [GRCh38]
Chr1:46660270 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1456C>G (p.Arg486Gly) |
single nucleotide variant |
Muscle eye brain disease [RCV000763933]|not provided [RCV000726595]|not specified [RCV000404503] |
Chr1:46192181 [GRCh38]
Chr1:46657853 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1645C>T (p.Leu549Phe) |
single nucleotide variant |
not specified [RCV000302178] |
Chr1:46190477 [GRCh38]
Chr1:46656149 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1933G>C (p.Glu645Gln) |
single nucleotide variant |
not specified [RCV000336166] |
Chr1:46189320 [GRCh38]
Chr1:46654992 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1454G>A (p.Arg485His) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000559267]|not specified [RCV000407481] |
Chr1:46192183 [GRCh38]
Chr1:46657855 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.269G>A (p.Arg90His) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000524954]|Muscle eye brain disease [RCV000763938]|not specified [RCV000407599] |
Chr1:46196816 [GRCh38]
Chr1:46662488 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1212-3_1212-2del |
deletion |
not provided [RCV000487672] |
Chr1:46192592..46192593 [GRCh38]
Chr1:46658264..46658265 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.1786-6C>T |
single nucleotide variant |
not specified [RCV000596002] |
Chr1:46189573 [GRCh38]
Chr1:46655245 [GRCh37]
Chr1:1p34.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017739.3(POMGNT1):c.1007T>C (p.Phe336Ser) |
single nucleotide variant |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000331000]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000387886] |
Chr1:46193583 [GRCh38]
Chr1:46659255 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1924A>G (p.Ile642Val) |
single nucleotide variant |
not specified [RCV000516928] |
Chr1:46189329 [GRCh38]
Chr1:46655001 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.-141A>G |
single nucleotide variant |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000334526]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000402740] |
Chr1:46198426 [GRCh38]
Chr1:46664098 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NC_000001.10:g.(?_46654371)_(46663513_?)dup |
duplication |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000531409] |
Chr1:46188699..46197841 [GRCh38]
Chr1:46654371..46663513 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.121A>G (p.Thr41Ala) |
single nucleotide variant |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000328266]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000385067] |
Chr1:46197084 [GRCh38]
Chr1:46662756 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.888C>A (p.Asp296Glu) |
single nucleotide variant |
not specified [RCV000591678] |
Chr1:46193917 [GRCh38]
Chr1:46659589 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1738C>A (p.Arg580=) |
single nucleotide variant |
not specified [RCV000592161] |
Chr1:46189901 [GRCh38]
Chr1:46655573 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1464A>G (p.Arg488=) |
single nucleotide variant |
not specified [RCV000592225] |
Chr1:46192173 [GRCh38]
Chr1:46657845 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1683T>C (p.Pro561=) |
single nucleotide variant |
not specified [RCV000595995] |
Chr1:46189956 [GRCh38]
Chr1:46655628 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1284+8G>A |
single nucleotide variant |
not provided [RCV000871193]|not specified [RCV000601559] |
Chr1:46192510 [GRCh38]
Chr1:46658182 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1082T>C (p.Ile361Thr) |
single nucleotide variant |
not specified [RCV000592582] |
Chr1:46193333 [GRCh38]
Chr1:46659005 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1596T>C (p.Asn532=) |
single nucleotide variant |
not specified [RCV000592757] |
Chr1:46190728 [GRCh38]
Chr1:46656400 [GRCh37]
Chr1:1p34.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017739.3(POMGNT1):c.1264A>C (p.Ile422Leu) |
single nucleotide variant |
not specified [RCV000597291] |
Chr1:46192538 [GRCh38]
Chr1:46658210 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.16C>T (p.Pro6Ser) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000796528]|not specified [RCV000593050] |
Chr1:46197806 [GRCh38]
Chr1:46663478 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.880-4A>C |
single nucleotide variant |
not specified [RCV000591029] |
Chr1:46193929 [GRCh38]
Chr1:46659601 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.358C>G (p.Leu120Val) |
single nucleotide variant |
not specified [RCV000593833] |
Chr1:46196074 [GRCh38]
Chr1:46661746 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.234T>C (p.Tyr78=) |
single nucleotide variant |
not specified [RCV000599713] |
Chr1:46196971 [GRCh38]
Chr1:46662643 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.477dup (p.Met160fs) |
duplication |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000597718] |
Chr1:46195868 [GRCh38]
Chr1:46661540 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_017739.3(POMGNT1):c.120+6G>C |
single nucleotide variant |
not specified [RCV000591256] |
Chr1:46197696 [GRCh38]
Chr1:46663368 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.46C>A (p.Arg16=) |
single nucleotide variant |
not specified [RCV000591517] |
Chr1:46197776 [GRCh38]
Chr1:46663448 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1015G>T (p.Gly339Cys) |
single nucleotide variant |
not specified [RCV000592036] |
Chr1:46193575 [GRCh38]
Chr1:46659247 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.478del (p.Met160fs) |
deletion |
Muscle eye brain disease [RCV000409087] |
Chr1:46195867 [GRCh38]
Chr1:46661539 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.1695_1698del (p.Phe566fs) |
deletion |
Muscle eye brain disease [RCV000409168] |
Chr1:46189941..46189944 [GRCh38]
Chr1:46655613..46655616 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.1786-2A>G |
single nucleotide variant |
Muscle eye brain disease [RCV000409263] |
Chr1:46189569 [GRCh38]
Chr1:46655241 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.1110+9T>C |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000556859] |
Chr1:46193296 [GRCh38]
Chr1:46658968 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.236-1G>T |
single nucleotide variant |
Muscle eye brain disease [RCV000409804] |
Chr1:46196850 [GRCh38]
Chr1:46662522 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.987del (p.Pro330fs) |
deletion |
Muscle eye brain disease [RCV000409861] |
Chr1:46193603 [GRCh38]
Chr1:46659275 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.99G>T (p.Arg33=) |
single nucleotide variant |
not provided [RCV000732025] |
Chr1:46197723 [GRCh38]
Chr1:46663395 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.126G>T (p.Gly42=) |
single nucleotide variant |
not provided [RCV000733817] |
Chr1:46197079 [GRCh38]
Chr1:46662751 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1287G>C (p.Gly429=) |
single nucleotide variant |
not provided [RCV000733856] |
Chr1:46192434 [GRCh38]
Chr1:46658106 [GRCh37]
Chr1:1p34.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017739.3(POMGNT1):c.797G>A (p.Arg266Gln) |
single nucleotide variant |
not specified [RCV000595313] |
Chr1:46194356 [GRCh38]
Chr1:46660028 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1113del (p.Tyr372fs) |
deletion |
Muscle eye brain disease [RCV000410334] |
Chr1:46193213 [GRCh38]
Chr1:46658885 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.1562del (p.Lys521fs) |
deletion |
Muscle eye brain disease [RCV000410384] |
Chr1:46190762 [GRCh38]
Chr1:46656434 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.203C>G (p.Ala68Gly) |
single nucleotide variant |
not provided [RCV000732261] |
Chr1:46197002 [GRCh38]
Chr1:46662674 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.427G>A (p.Val143Met) |
single nucleotide variant |
not provided [RCV000732264] |
Chr1:46195918 [GRCh38]
Chr1:46661590 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1167T>C (p.Ala389=) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000530635]|not provided [RCV000732506] |
Chr1:46192944 [GRCh38]
Chr1:46658616 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_017739.3(POMGNT1):c.875del (p.Asp292fs) |
deletion |
Muscle eye brain disease [RCV000410756] |
Chr1:46194278 [GRCh38]
Chr1:46659950 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_001243766.1(POMGNT1):c.1692_1693CT[1] (p.Ser565fs) |
microsatellite |
Muscle eye brain disease [RCV000410825] |
Chr1:46189944..46189945 [GRCh38]
Chr1:46655616..46655617 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.60_63delinsGTGA (p.Ser20_Trp21delinsArgTer) |
indel |
Muscle eye brain disease [RCV000410976] |
Chr1:46197759..46197762 [GRCh38]
Chr1:46663431..46663434 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.1151C>G (p.Pro384Arg) |
single nucleotide variant |
not provided [RCV000734635] |
Chr1:46193175 [GRCh38]
Chr1:46658847 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.354+1G>A |
single nucleotide variant |
Muscle eye brain disease [RCV000411160] |
Chr1:46196730 [GRCh38]
Chr1:46662402 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.880-2A>G |
single nucleotide variant |
Muscle eye brain disease [RCV000411269] |
Chr1:46193927 [GRCh38]
Chr1:46659599 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.1153-8C>T |
single nucleotide variant |
not provided [RCV000733289] |
Chr1:46192966 [GRCh38]
Chr1:46658638 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1786-9C>T |
single nucleotide variant |
not provided [RCV000733317] |
Chr1:46189576 [GRCh38]
Chr1:46655248 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1558C>T (p.His520Tyr) |
single nucleotide variant |
not provided [RCV000734075] |
Chr1:46190766 [GRCh38]
Chr1:46656438 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1650-4G>A |
single nucleotide variant |
not provided [RCV000734084] |
Chr1:46189993 [GRCh38]
Chr1:46655665 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.354+3C>T |
single nucleotide variant |
not provided [RCV000733543] |
Chr1:46196728 [GRCh38]
Chr1:46662400 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1284+2_1284+19del |
deletion |
Muscle eye brain disease [RCV000411800] |
Chr1:46192499..46192516 [GRCh38]
Chr1:46658171..46658188 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.1741_1745del (p.Met581fs) |
deletion |
Muscle eye brain disease [RCV000411968] |
Chr1:46189894..46189898 [GRCh38]
Chr1:46655566..46655570 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.185_186insA (p.Arg63fs) |
insertion |
Muscle eye brain disease [RCV000412188] |
Chr1:46197019..46197020 [GRCh38]
Chr1:46662691..46662692 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.121-2A>G |
single nucleotide variant |
Muscle eye brain disease [RCV000412225] |
Chr1:46197086 [GRCh38]
Chr1:46662758 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.751+10G>A |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000535748] |
Chr1:46194543 [GRCh38]
Chr1:46660215 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.157G>A (p.Val53Ile) |
single nucleotide variant |
not provided [RCV000729780] |
Chr1:46197048 [GRCh38]
Chr1:46662720 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1438C>T (p.Arg480Trp) |
single nucleotide variant |
not provided [RCV000731690] |
Chr1:46192199 [GRCh38]
Chr1:46657871 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.751+4G>C |
single nucleotide variant |
not provided [RCV000731722] |
Chr1:46194549 [GRCh38]
Chr1:46660221 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.420+5G>T |
single nucleotide variant |
not provided [RCV000733716] |
Chr1:46196007 [GRCh38]
Chr1:46661679 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1538_1539+2del |
deletion |
Muscle eye brain disease [RCV000412386] |
Chr1:46192096..46192099 [GRCh38]
Chr1:46657768..46657771 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.879+2T>C |
single nucleotide variant |
Muscle eye brain disease [RCV000412480] |
Chr1:46194272 [GRCh38]
Chr1:46659944 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.698C>T (p.Ser233Phe) |
single nucleotide variant |
not provided [RCV000873590]|not specified [RCV000413042] |
Chr1:46194606 [GRCh38]
Chr1:46660278 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_017739.3(POMGNT1):c.1406C>T (p.Pro469Leu) |
single nucleotide variant |
not provided [RCV000730929] |
Chr1:46192315 [GRCh38]
Chr1:46657987 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1027-2_1027-1del |
deletion |
Muscle eye brain disease [RCV000408976] |
Chr1:46193389..46193390 [GRCh38]
Chr1:46659061..46659062 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.1173T>C (p.Val391=) |
single nucleotide variant |
not specified [RCV000417435] |
Chr1:46192938 [GRCh38]
Chr1:46658610 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1560C>T (p.His520=) |
single nucleotide variant |
not specified [RCV000420628] |
Chr1:46190764 [GRCh38]
Chr1:46656436 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1569C>T (p.Asn523=) |
single nucleotide variant |
not specified [RCV000438302] |
Chr1:46190755 [GRCh38]
Chr1:46656427 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.753G>T (p.Glu251Asp) |
single nucleotide variant |
Muscle eye brain disease [RCV000680075] |
Chr1:46194400 [GRCh38]
Chr1:46660072 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.-33C>T |
single nucleotide variant |
not specified [RCV000439094] |
Chr1:46197854 [GRCh38]
Chr1:46663526 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.534+15C>T |
single nucleotide variant |
not specified [RCV000428769] |
Chr1:46195796 [GRCh38]
Chr1:46661468 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.565G>T (p.Ala189Ser) |
single nucleotide variant |
not specified [RCV000435879] |
Chr1:46194931 [GRCh38]
Chr1:46660603 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.314C>G (p.Ser105Ter) |
single nucleotide variant |
not provided [RCV000428665] |
Chr1:46196771 [GRCh38]
Chr1:46662443 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.415G>C (p.Ala139Pro) |
single nucleotide variant |
not specified [RCV000518767] |
Chr1:46196017 [GRCh38]
Chr1:46661689 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1212-4T>G |
single nucleotide variant |
not provided [RCV000977068]|not specified [RCV000443706] |
Chr1:46192594 [GRCh38]
Chr1:46658266 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.287G>C (p.Arg96Pro) |
single nucleotide variant |
not specified [RCV000522693] |
Chr1:46196798 [GRCh38]
Chr1:46662470 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.507C>T (p.Pro169=) |
single nucleotide variant |
not specified [RCV000441056] |
Chr1:46195838 [GRCh38]
Chr1:46661510 [GRCh37]
Chr1:1p34.1 |
likely benign |
| GRCh37/hg19 1p34.1(chr1:46078097-46725770)x3 |
copy number gain |
See cases [RCV000448110] |
Chr1:46078097..46725770 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)x1 |
copy number loss |
See cases [RCV000448358] |
Chr1:45303358..52157856 [GRCh37]
Chr1:1p34.1-32.3 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.421-13_421-10dup |
duplication |
not specified [RCV000480586] |
Chr1:46195934..46195937 [GRCh38]
Chr1:46661606..46661609 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.355G>A (p.Val119Met) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000817043]|Muscle eye brain disease [RCV000763936]|not specified [RCV000485011] |
Chr1:46196077 [GRCh38]
Chr1:46661749 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_001013615.3(LURAP1):c.620A>G (p.Gln207Arg) |
single nucleotide variant |
not specified [RCV000455955] |
Chr1:46220120 [GRCh38]
Chr1:46685792 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_017739.3(POMGNT1):c.1463G>A (p.Arg488Gln) |
single nucleotide variant |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000984207]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000984208]|Muscle eye brain disease [RCV000984206]|Retinitis pigmentosa 76 [RCV000984209]|not provided [RCV000479982] |
Chr1:46192174 [GRCh38]
Chr1:46657846 [GRCh37]
Chr1:1p34.1 |
likely pathogenic|uncertain significance |
| NM_017739.3(POMGNT1):c.550C>T (p.His184Tyr) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000531957] |
Chr1:46194946 [GRCh38]
Chr1:46660618 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.440G>A (p.Arg147His) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000543475]|not specified [RCV000504514] |
Chr1:46195905 [GRCh38]
Chr1:46661577 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p34.1-33(chr1:46541307-47088882)x3 |
copy number gain |
See cases [RCV000511609] |
Chr1:46541307..47088882 [GRCh37]
Chr1:1p34.1-33 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_017739.3(POMGNT1):c.70A>G (p.Thr24Ala) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000557425] |
Chr1:46197752 [GRCh38]
Chr1:46663424 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.6C>T (p.Asp2=) |
single nucleotide variant |
not specified [RCV000595917] |
Chr1:46197816 [GRCh38]
Chr1:46663488 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1195G>A (p.Ala399Thr) |
single nucleotide variant |
not specified [RCV000596846] |
Chr1:46192916 [GRCh38]
Chr1:46658588 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1305G>A (p.Glu435=) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000549154] |
Chr1:46192416 [GRCh38]
Chr1:46658088 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.535-14C>G |
single nucleotide variant |
not specified [RCV000602619] |
Chr1:46194975 [GRCh38]
Chr1:46660647 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.426C>T (p.His142=) |
single nucleotide variant |
not specified [RCV000594088] |
Chr1:46195919 [GRCh38]
Chr1:46661591 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.251G>T (p.Arg84Leu) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000555787] |
Chr1:46196834 [GRCh38]
Chr1:46662506 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.624C>T (p.Asp208=) |
single nucleotide variant |
not specified [RCV000609481] |
Chr1:46194872 [GRCh38]
Chr1:46660544 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.-68G>A |
single nucleotide variant |
not specified [RCV000606731] |
Chr1:46198353 [GRCh38]
Chr1:46664025 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.535-7C>T |
single nucleotide variant |
not provided [RCV000890554]|not specified [RCV000615940] |
Chr1:46194968 [GRCh38]
Chr1:46660640 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1532A>G (p.Tyr511Cys) |
single nucleotide variant |
not specified [RCV000596145] |
Chr1:46192105 [GRCh38]
Chr1:46657777 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1786-17C>T |
single nucleotide variant |
not specified [RCV000607546] |
Chr1:46189584 [GRCh38]
Chr1:46655256 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1509C>T (p.Ile503=) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000538052] |
Chr1:46192128 [GRCh38]
Chr1:46657800 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_001243766.1(POMGNT1):c.1752_1754TGA[1] (p.Asp586del) |
microsatellite |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648198]|not specified [RCV000594477] |
Chr1:46189882..46189884 [GRCh38]
Chr1:46655554..46655556 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.-85_-75AGCGGGGCCCG[3] |
microsatellite |
not specified [RCV000608769] |
Chr1:46198349..46198359 [GRCh38]
Chr1:46664021..46664031 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.861C>T (p.Ile287=) |
single nucleotide variant |
not specified [RCV000611705] |
Chr1:46194292 [GRCh38]
Chr1:46659964 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.453G>A (p.Thr151=) |
single nucleotide variant |
not provided [RCV000731258]|not specified [RCV000604330] |
Chr1:46195892 [GRCh38]
Chr1:46661564 [GRCh37]
Chr1:1p34.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017739.3(POMGNT1):c.120+4T>C |
single nucleotide variant |
not specified [RCV000612085] |
Chr1:46197698 [GRCh38]
Chr1:46663370 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.-51+12C>T |
single nucleotide variant |
not specified [RCV000604169] |
Chr1:46198324 [GRCh38]
Chr1:46663996 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1220G>A (p.Ser407Asn) |
single nucleotide variant |
not specified [RCV000594200] |
Chr1:46192582 [GRCh38]
Chr1:46658254 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1732T>C (p.Phe578Leu) |
single nucleotide variant |
not specified [RCV000594465] |
Chr1:46189907 [GRCh38]
Chr1:46655579 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1101C>T (p.Arg367=) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648193] |
Chr1:46193314 [GRCh38]
Chr1:46658986 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1152G>A (p.Pro384=) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648195] |
Chr1:46193174 [GRCh38]
Chr1:46658846 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.689C>G (p.Ala230Gly) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648200] |
Chr1:46194615 [GRCh38]
Chr1:46660287 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.656C>T (p.Pro219Leu) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648201] |
Chr1:46194648 [GRCh38]
Chr1:46660320 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1335del (p.Met446fs) |
deletion |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648202] |
Chr1:46192386 [GRCh38]
Chr1:46658058 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_017739.3(POMGNT1):c.105G>A (p.Leu35=) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648203] |
Chr1:46197717 [GRCh38]
Chr1:46663389 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.52A>G (p.Lys18Glu) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648204] |
Chr1:46197770 [GRCh38]
Chr1:46663442 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1099C>T (p.Arg367Cys) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648205] |
Chr1:46193316 [GRCh38]
Chr1:46658988 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.584G>A (p.Ser195Asn) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648206] |
Chr1:46194912 [GRCh38]
Chr1:46660584 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.309G>A (p.Val103=) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648207] |
Chr1:46196776 [GRCh38]
Chr1:46662448 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.-51+15G>A |
single nucleotide variant |
not specified [RCV000606254] |
Chr1:46198321 [GRCh38]
Chr1:46663993 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.879+1G>C |
single nucleotide variant |
Muscle eye brain disease [RCV000664536] |
Chr1:46194273 [GRCh38]
Chr1:46659945 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.355-3T>G |
single nucleotide variant |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000661910]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000661909] |
Chr1:46196080 [GRCh38]
Chr1:46661752 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1842_1844del (p.Leu614del) |
deletion |
Muscle eye brain disease [RCV000670896] |
Chr1:46189509..46189511 [GRCh38]
Chr1:46655180..46655183 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1895+22_1895+23insCCTACTCGTGAGTGCCCTGTTT |
insertion |
Muscle eye brain disease [RCV000669779] |
Chr1:46189435..46189436 [GRCh38]
Chr1:46655107..46655108 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_001243766.1(POMGNT1):c.1102_1103GT[1] (p.Gln370fs) |
microsatellite |
Muscle eye brain disease [RCV000665090] |
Chr1:46193310..46193311 [GRCh38]
Chr1:46658981..46658983 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_001243766.1(POMGNT1):c.2209del (p.Leu737fs) |
deletion |
Muscle eye brain disease [RCV000670201] |
Chr1:46188757 [GRCh38]
Chr1:46654428..46654429 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_001243766.1(POMGNT1):c.2196G>A (p.Trp732Ter) |
single nucleotide variant |
Muscle eye brain disease [RCV000665224] |
Chr1:46188770 [GRCh38]
Chr1:46654442 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1604+1G>A |
single nucleotide variant |
Muscle eye brain disease [RCV000668367] |
Chr1:46190719 [GRCh38]
Chr1:46656391 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_001243766.1(POMGNT1):c.2227C>T (p.Gln743Ter) |
single nucleotide variant |
Muscle eye brain disease [RCV000668644] |
Chr1:46188739 [GRCh38]
Chr1:46654411 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1865T>C (p.Leu622Pro) |
single nucleotide variant |
Muscle eye brain disease [RCV000665970] |
Chr1:46189488 [GRCh38]
Chr1:46655160 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.458C>G (p.Ser153Ter) |
single nucleotide variant |
Muscle eye brain disease [RCV000666156] |
Chr1:46195887 [GRCh38]
Chr1:46661559 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_017739.3(POMGNT1):c.385C>T (p.Arg129Trp) |
single nucleotide variant |
Muscle eye brain disease [RCV000674794] |
Chr1:46196047 [GRCh38]
Chr1:46661719 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_001243766.1(POMGNT1):c.2195G>A (p.Trp732Ter) |
single nucleotide variant |
Muscle eye brain disease [RCV000670443] |
Chr1:46188771 [GRCh38]
Chr1:46654443 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1966_1974dup (p.Ala656_Glu658dup) |
duplication |
Muscle eye brain disease [RCV000673890] |
Chr1:46189279..46189287 [GRCh38]
Chr1:46654950 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1947G>T (p.Lys649Asn) |
single nucleotide variant |
Muscle eye brain disease [RCV000670376] |
Chr1:46189306 [GRCh38]
Chr1:46654978 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_001243766.1(POMGNT1):c.1985+2_1985+5del |
deletion |
Muscle eye brain disease [RCV000673932] |
Chr1:46189237..46189240 [GRCh38]
Chr1:46654908..46654912 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.880-1G>A |
single nucleotide variant |
Muscle eye brain disease [RCV000667582] |
Chr1:46193926 [GRCh38]
Chr1:46659598 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.1212-1G>C |
single nucleotide variant |
Muscle eye brain disease [RCV000665626] |
Chr1:46192591 [GRCh38]
Chr1:46658263 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_001243766.1(POMGNT1):c.2100_2101dup (p.Ala701fs) |
duplication |
Muscle eye brain disease [RCV000671225] |
Chr1:46188865..46188866 [GRCh38]
Chr1:46654536 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1852A>T (p.Lys618Ter) |
single nucleotide variant |
Muscle eye brain disease [RCV000667729] |
Chr1:46189501 [GRCh38]
Chr1:46655173 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.1905del (p.Lys635fs) |
deletion |
Muscle eye brain disease [RCV000672861] |
Chr1:46189348 [GRCh38]
Chr1:46655019..46655020 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.653-2A>C |
single nucleotide variant |
Muscle eye brain disease [RCV000666233] |
Chr1:46194653 [GRCh38]
Chr1:46660325 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.512_517dup (p.Arg171_Val172dup) |
duplication |
Muscle eye brain disease [RCV000664654] |
Chr1:46195828..46195833 [GRCh38]
Chr1:46661499 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.233_234del (p.Asp77_Tyr78insTer) |
deletion |
Muscle eye brain disease [RCV000668271] |
Chr1:46196971..46196972 [GRCh38]
Chr1:46662642..46662644 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.794G>C (p.Arg265Pro) |
single nucleotide variant |
Muscle eye brain disease [RCV000674865] |
Chr1:46194359 [GRCh38]
Chr1:46660031 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1649+2T>G |
single nucleotide variant |
Muscle eye brain disease [RCV000668770] |
Chr1:46190471 [GRCh38]
Chr1:46656143 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.1152+2T>C |
single nucleotide variant |
Muscle eye brain disease [RCV000674268] |
Chr1:46193172 [GRCh38]
Chr1:46658844 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_001243766.1(POMGNT1):c.2031_2057del (p.Glu678_Leu686del) |
deletion |
Muscle eye brain disease [RCV000674370] |
Chr1:46188909..46188935 [GRCh38]
Chr1:46654580..46654607 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1539+1del |
deletion |
Muscle eye brain disease [RCV000665466] |
Chr1:46192097 [GRCh38]
Chr1:46657768..46657769 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.1895+1G>C |
single nucleotide variant |
Muscle eye brain disease [RCV000673103] |
Chr1:46189457 [GRCh38]
Chr1:46655129 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.1604+2T>C |
single nucleotide variant |
Muscle eye brain disease [RCV000665812] |
Chr1:46190718 [GRCh38]
Chr1:46656390 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.821G>A (p.Gly274Asp) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000698819] |
Chr1:46194332 [GRCh38]
Chr1:46660004 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1786-1G>A |
single nucleotide variant |
Muscle eye brain disease [RCV000667654] |
Chr1:46189568 [GRCh38]
Chr1:46655240 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.908C>T (p.Pro303Leu) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000684863] |
Chr1:46193897 [GRCh38]
Chr1:46659569 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.185G>C (p.Arg62Pro) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000701681] |
Chr1:46197020 [GRCh38]
Chr1:46662692 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.419C>T (p.Thr140Met) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000690230] |
Chr1:46196013 [GRCh38]
Chr1:46661685 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1924A>T (p.Ile642Phe) |
single nucleotide variant |
not provided [RCV000712841] |
Chr1:46189329 [GRCh38]
Chr1:46655001 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NC_000001.10:g.(?_46654371)_(46655681_?)del |
deletion |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000708016] |
Chr1:46188699..46190009 [GRCh38]
Chr1:46654371..46655681 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.1091A>G (p.Lys364Arg) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000685215] |
Chr1:46193324 [GRCh38]
Chr1:46658996 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_001243766.1(POMGNT1):c.1848_1850GAA[2] (p.Lys618del) |
microsatellite |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000703196] |
Chr1:46189497..46189499 [GRCh38]
Chr1:46655169..46655171 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1697T>C (p.Phe566Ser) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000693960] |
Chr1:46189942 [GRCh38]
Chr1:46655614 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NC_000001.10:g.(?_33241563)_(46663513_?)dup |
duplication |
Charcot-Marie-Tooth disease, dominant intermediate C [RCV000708276] |
Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.354+6T>C |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000696417] |
Chr1:46196725 [GRCh38]
Chr1:46662397 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p34.1-33(chr1:46372688-47188150)x3 |
copy number gain |
not provided [RCV000736482] |
Chr1:46372688..47188150 [GRCh37]
Chr1:1p34.1-33 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1027-4C>G |
single nucleotide variant |
not provided [RCV000940236] |
Chr1:46193392 [GRCh38]
Chr1:46659064 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.991C>T (p.Gln331Ter) |
single nucleotide variant |
not provided [RCV000760851] |
Chr1:46193599 [GRCh38]
Chr1:46659271 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_017739.3(POMGNT1):c.1588C>G (p.Leu530Val) |
single nucleotide variant |
not provided [RCV000761659] |
Chr1:46190736 [GRCh38]
Chr1:46656408 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.747A>G (p.Ala249=) |
single nucleotide variant |
not provided [RCV000865468] |
Chr1:46194557 [GRCh38]
Chr1:46660229 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1041G>A (p.Val347=) |
single nucleotide variant |
not provided [RCV000928548] |
Chr1:46193374 [GRCh38]
Chr1:46659046 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.421-9C>T |
single nucleotide variant |
not provided [RCV000945203] |
Chr1:46195933 [GRCh38]
Chr1:46661605 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1758C>T (p.Asp586=) |
single nucleotide variant |
not provided [RCV000892024] |
Chr1:46189881 [GRCh38]
Chr1:46655553 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1215C>T (p.Phe405=) |
single nucleotide variant |
not provided [RCV000906229] |
Chr1:46192587 [GRCh38]
Chr1:46658259 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1111-9C>T |
single nucleotide variant |
not provided [RCV000877561] |
Chr1:46193224 [GRCh38]
Chr1:46658896 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_017739.3(POMGNT1):c.1482C>T (p.Asp494=) |
single nucleotide variant |
not provided [RCV000903844] |
Chr1:46192155 [GRCh38]
Chr1:46657827 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.420G>A (p.Thr140=) |
single nucleotide variant |
not provided [RCV000950279] |
Chr1:46196012 [GRCh38]
Chr1:46661684 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.540G>A (p.Glu180=) |
single nucleotide variant |
not provided [RCV000983766] |
Chr1:46194956 [GRCh38]
Chr1:46660628 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1786-5A>T |
single nucleotide variant |
not provided [RCV000951000] |
Chr1:46189572 [GRCh38]
Chr1:46655244 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.751+1G>A |
single nucleotide variant |
POMGNT1-Related Disorders [RCV000778983] |
Chr1:46194552 [GRCh38]
Chr1:46660224 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3:c.236-13T>C |
single nucleotide variant |
not provided [RCV000828431] |
Chr1:46662534 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1876G>A (p.Val626Ile) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000797760] |
Chr1:46189477 [GRCh38]
Chr1:46655149 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1693T>A (p.Ser565Thr) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000801889] |
Chr1:46189946 [GRCh38]
Chr1:46655618 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1650-212G>A |
single nucleotide variant |
not provided [RCV000826752] |
Chr1:46190201 [GRCh38]
Chr1:46655873 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_017739.3(POMGNT1):c.1001_1002del (p.Thr334fs) |
deletion |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000806529] |
Chr1:46193589..46193590 [GRCh38]
Chr1:46659260..46659261 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_017739.3(POMGNT1):c.439C>T (p.Arg147Cys) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000807795] |
Chr1:46195906 [GRCh38]
Chr1:46661578 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1526A>G (p.Asn509Ser) |
single nucleotide variant |
not provided [RCV000782030] |
Chr1:46192111 [GRCh38]
Chr1:46657783 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.927del (p.Asn310fs) |
deletion |
POMGNT1-Related Disorders [RCV000778244] |
Chr1:46193880 [GRCh38]
Chr1:46659549..46659550 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1919C>T (p.Thr640Ile) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000818799] |
Chr1:46189334 [GRCh38]
Chr1:46655006 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 |
copy number gain |
Global developmental delay [RCV000787285] |
Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.880-5C>T |
single nucleotide variant |
not provided [RCV000941488] |
Chr1:46193930 [GRCh38]
Chr1:46659602 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.834A>G (p.Val278=) |
single nucleotide variant |
not provided [RCV000930938] |
Chr1:46194319 [GRCh38]
Chr1:46659991 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.807C>T (p.Cys269=) |
single nucleotide variant |
not provided [RCV000874863] |
Chr1:46194346 [GRCh38]
Chr1:46660018 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.18C>T (p.Pro6=) |
single nucleotide variant |
not provided [RCV000884217] |
Chr1:46197804 [GRCh38]
Chr1:46663476 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.522C>T (p.Ile174=) |
single nucleotide variant |
not provided [RCV000978743] |
Chr1:46195823 [GRCh38]
Chr1:46661495 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1230C>T (p.Ile410=) |
single nucleotide variant |
not provided [RCV000930143] |
Chr1:46192572 [GRCh38]
Chr1:46658244 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1338G>A (p.Met446Ile) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000817349] |
Chr1:46192383 [GRCh38]
Chr1:46658055 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.7G>T (p.Asp3Tyr) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000819640] |
Chr1:46197815 [GRCh38]
Chr1:46663487 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.184C>T (p.Arg62Trp) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000818320] |
Chr1:46197021 [GRCh38]
Chr1:46662693 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1721C>T (p.Thr574Ile) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000815551] |
Chr1:46189918 [GRCh38]
Chr1:46655590 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1161G>T (p.Lys387Asn) |
single nucleotide variant |
POMGNT1-Related Disorders [RCV000791118] |
Chr1:46192950 [GRCh38]
Chr1:46658622 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1414-11A>C |
single nucleotide variant |
not provided [RCV000842376] |
Chr1:46192234 [GRCh38]
Chr1:46657906 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1462C>T (p.Arg488Ter) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000823735] |
Chr1:46192175 [GRCh38]
Chr1:46657847 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NC_000001.10:g.(?_46656135)_(46656466_?)del |
deletion |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000798153] |
Chr1:46190463..46190794 [GRCh38]
Chr1:46656135..46656466 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_017739.3(POMGNT1):c.1212-66T>C |
single nucleotide variant |
not provided [RCV000830215] |
Chr1:46192656 [GRCh38]
Chr1:46658328 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_017739.3(POMGNT1):c.1539+319G>T |
single nucleotide variant |
not provided [RCV000840518] |
Chr1:46191779 [GRCh38]
Chr1:46657451 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_017739.3(POMGNT1):c.1669C>A (p.His557Asn) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000808762] |
Chr1:46189970 [GRCh38]
Chr1:46655642 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1539+215T>G |
single nucleotide variant |
not provided [RCV000826751] |
Chr1:46191883 [GRCh38]
Chr1:46657555 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_017739.3(POMGNT1):c.1910C>T (p.Pro637Leu) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000808276] |
Chr1:46189343 [GRCh38]
Chr1:46655015 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1561A>G (p.Lys521Glu) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000815293] |
Chr1:46190763 [GRCh38]
Chr1:46656435 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3:c.1027-44A>G |
single nucleotide variant |
not provided [RCV000830213] |
Chr1:46659104 [GRCh37]
Chr1:1p34.1 |
benign |
| NC_000001.10:g.(?_46656135)_(46656466_?)dup |
duplication |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000815909] |
Chr1:46190463..46190794 [GRCh38]
Chr1:46656135..46656466 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.10del (p.Trp4fs) |
deletion |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000796151] |
Chr1:46197812 [GRCh38]
Chr1:46663484 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_017739.3(POMGNT1):c.1160A>G (p.Lys387Arg) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000804855] |
Chr1:46192951 [GRCh38]
Chr1:46658623 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.951-52A>G |
single nucleotide variant |
not provided [RCV000830212] |
Chr1:46193691 [GRCh38]
Chr1:46659363 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_017739.3(POMGNT1):c.1212-81C>T |
single nucleotide variant |
not provided [RCV000830214] |
Chr1:46192671 [GRCh38]
Chr1:46658343 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_017739.3(POMGNT1):c.652+1G>T |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000796490] |
Chr1:46194843 [GRCh38]
Chr1:46660515 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_017739.3(POMGNT1):c.511C>T (p.Arg171Ter) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000803088] |
Chr1:46195834 [GRCh38]
Chr1:46661506 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_017739.3(POMGNT1):c.796C>T (p.Arg266Trp) |
single nucleotide variant |
not provided [RCV000876799] |
Chr1:46194357 [GRCh38]
Chr1:46660029 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.250C>T (p.Arg84Cys) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000823323] |
Chr1:46196835 [GRCh38]
Chr1:46662507 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1198G>C (p.Val400Leu) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000797880] |
Chr1:46192913 [GRCh38]
Chr1:46658585 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.626C>T (p.Thr209Ile) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000798295] |
Chr1:46194870 [GRCh38]
Chr1:46660542 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.1365G>A (p.Arg455=) |
single nucleotide variant |
not provided [RCV000874972] |
Chr1:46192356 [GRCh38]
Chr1:46658028 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1605-9C>T |
single nucleotide variant |
not provided [RCV000964581] |
Chr1:46190526 [GRCh38]
Chr1:46656198 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1539+119A>G |
single nucleotide variant |
not provided [RCV000826750] |
Chr1:46191979 [GRCh38]
Chr1:46657651 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_017739.3(POMGNT1):c.287G>A (p.Arg96Gln) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000807038] |
Chr1:46196798 [GRCh38]
Chr1:46662470 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.492C>T (p.Leu164=) |
single nucleotide variant |
not provided [RCV000960708] |
Chr1:46195853 [GRCh38]
Chr1:46661525 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.160A>G (p.Asn54Asp) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000808720] |
Chr1:46197045 [GRCh38]
Chr1:46662717 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| GRCh37/hg19 1p34.1(chr1:46541327-46668698)x3 |
copy number gain |
not provided [RCV000849415] |
Chr1:46541327..46668698 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_017739.3(POMGNT1):c.879+7G>A |
single nucleotide variant |
not provided [RCV000944857] |
Chr1:46194267 [GRCh38]
Chr1:46659939 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.504G>A (p.Ala168=) |
single nucleotide variant |
not provided [RCV000969906] |
Chr1:46195841 [GRCh38]
Chr1:46661513 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.834A>T (p.Val278=) |
single nucleotide variant |
not provided [RCV000931122] |
Chr1:46194319 [GRCh38]
Chr1:46659991 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.735A>G (p.Pro245=) |
single nucleotide variant |
not provided [RCV000953928] |
Chr1:46194569 [GRCh38]
Chr1:46660241 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.535-7C>G |
single nucleotide variant |
not provided [RCV000875983] |
Chr1:46194968 [GRCh38]
Chr1:46660640 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.747A>C (p.Ala249=) |
single nucleotide variant |
not provided [RCV000932072] |
Chr1:46194557 [GRCh38]
Chr1:46660229 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1539+9G>A |
single nucleotide variant |
not provided [RCV000942517] |
Chr1:46192089 [GRCh38]
Chr1:46657761 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1680C>T (p.Asn560=) |
single nucleotide variant |
not provided [RCV000932182] |
Chr1:46189959 [GRCh38]
Chr1:46655631 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.300C>T (p.Asp100=) |
single nucleotide variant |
not provided [RCV000876794] |
Chr1:46196785 [GRCh38]
Chr1:46662457 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.900C>A (p.Leu300=) |
single nucleotide variant |
not provided [RCV000888615] |
Chr1:46193905 [GRCh38]
Chr1:46659577 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1591A>C (p.Arg531=) |
single nucleotide variant |
not provided [RCV000913141] |
Chr1:46190733 [GRCh38]
Chr1:46656405 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_017739.3(POMGNT1):c.1605-8C>T |
single nucleotide variant |
not provided [RCV000956345] |
Chr1:46190525 [GRCh38]
Chr1:46656197 [GRCh37]
Chr1:1p34.1 |
likely benign |
Gene-Chemical Interaction Annotations
