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_001243766.1(POMGNT1):c.386G>A (p.Arg129Gln) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000554424]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001200051]|not provided [RCV000591176] |
Chr1:46196046 [GRCh38] Chr1:46661718 [GRCh37] Chr1:1p34.1 |
pathogenic|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-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]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001219572]|Muscle eye brain disease [RCV000984210]|Retinitis pigmentosa 76 [RCV000984303]|not provided [RCV000150001] |
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_001290130.1(POMGNT1):c.-243C>T |
single nucleotide variant |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004201]|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 |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001097781]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000004204]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001082774]|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]|not provided [RCV001268426] |
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]|not provided [RCV001091843] |
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 [RCV001080552]|not provided [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] |
Chr1:46197715 [GRCh38] Chr1:46663387 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.3(POMGNT1):c.1855A>T (p.Asn619Tyr) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001045068]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001199124]|not provided [RCV000727414] |
Chr1:46189498 [GRCh38] Chr1:46655170 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001045717]|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 |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [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 [RCV001030748]|Limb-girdle muscular dystrophy, autosomal recessive [RCV001269143]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648199]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001196668]|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|uncertain significance |
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_017739.4(POMGNT1):c.1814G>A |
single nucleotide variant |
Muscle eye brain disease [RCV000050002]|not provided [RCV001269853] |
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_001243766.1(POMGNT1):c.1869+7del |
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 |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001043665]|Muscle eye brain disease [RCV000050005]|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]|Inborn genetic diseases [RCV001266790]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000394027]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000704718]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001005010]|Muscle eye brain disease [RCV000050006]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 [RCV001333959]|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] |
Chr1:46189450..46189453 [GRCh38] Chr1:46655122..46655125 [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] |
Chr1:46197796..46197797 [GRCh38] Chr1:46663468..46663469 [GRCh37] Chr1:1p34.1 |
likely pathogenic |
NM_001290130.1(POMGNT1):c.-79del |
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]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001062800]|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]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001039421]|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] |
Chr1:46193607..46193608 [GRCh38] Chr1:46659279..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 |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001101654]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001101653]|not provided [RCV000828431]|not specified [RCV000081802] |
Chr1:46196862 [GRCh38] Chr1:46662534 [GRCh37] Chr1:1p34.1 |
benign|likely benign|uncertain significance |
NM_017739.3(POMGNT1):c.301G>A (p.Val101Ile) |
single nucleotide variant |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000369008]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000312026]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001079365]|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 provided [RCV000081804] |
Chr1:46194914 [GRCh38] Chr1:46660586 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.3(POMGNT1):c.681A>G (p.Lys227=) |
single nucleotide variant |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000343385]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000304915]|Muscle eye brain disease [RCV001275750]|not provided [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] |
Chr1:46197729..46197730 [GRCh38] Chr1:46663401..46663402 [GRCh37] Chr1:1p34.1 |
pathogenic |
NM_017739.3(POMGNT1):c.1257G>A (p.Leu419=) |
single nucleotide variant |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001101551]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001083592]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001101550]|Muscle eye brain disease [RCV001275233]|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, alpha-dystroglycan related [RCV001097959]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001097960]|not specified [RCV000127571] |
Chr1:46197832 [GRCh38] Chr1:46663504 [GRCh37] Chr1:1p34.1 |
benign|likely benign|uncertain significance |
NM_017739.4(POMGNT1):c.614G>A (p.Gly205Asp) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001303668] |
Chr1:46194882 [GRCh38] Chr1:46660554 [GRCh37] Chr1:1p34.1 |
uncertain significance |
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]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000318279]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001084434]|Muscle eye brain disease [RCV000679858]|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 |
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 |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001083649]|Muscle eye brain disease [RCV000763935]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 [RCV001333960]|not provided [RCV000725700]|not specified [RCV000150000] |
Chr1:46194314 [GRCh38] Chr1:46659986 [GRCh37] Chr1:1p34.1 |
likely benign|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 |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648197]|Muscle eye brain disease [RCV000763937]|Muscle eye brain disease [RCV001272275] |
Chr1:46196766 [GRCh38] Chr1:46662438 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.3(POMGNT1):c.1867= (p.Val623=) |
single nucleotide variant |
Muscle eye brain disease [RCV000986313]|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 |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001083116]|not provided [RCV000153759] |
Chr1:46189522 [GRCh38] Chr1:46655194 [GRCh37] Chr1:1p34.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017739.3(POMGNT1):c.1490G>A (p.Arg497Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV000622475]|not provided [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 provided [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 provided [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] |
Chr1:46193578..46193579 [GRCh38] Chr1:46659250..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-dystroglycanopathy, type C3 [RCV000263792]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001081913]|Muscle eye brain disease [RCV001277259]|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 |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001088969]|Muscle eye brain disease [RCV001275754]|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 |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001096216]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000813907]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001096217]|Muscle eye brain disease [RCV001275759]|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 A3 [RCV000192386] |
Chr1:46192307 [GRCh38] Chr1:46657979 [GRCh37] Chr1:1p34.1 |
pathogenic |
NM_017739.3(POMGNT1):c.1783A>G (p.Lys595Glu) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001061817]|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-dystroglycanopathy, type C3 [RCV000295933]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001081570]|Muscle eye brain disease [RCV001277253]|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-dystroglycanopathy, type C3 [RCV000303249]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [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-dystroglycanopathy, type C3 [RCV000395975]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001079550]|not provided [RCV000386165] |
Chr1:46195859 [GRCh38] Chr1:46661531 [GRCh37] Chr1:1p34.1 |
likely benign|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-dystroglycanopathy, type C3 [RCV000286400]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000553660]|not provided [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-dystroglycanopathy, type C3 [RCV000401912]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001308582] |
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-dystroglycanopathy, type C3 [RCV000354770]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001084521]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 [RCV001333958]|not provided [RCV000548277]|not specified [RCV000267239] |
Chr1:46192127 [GRCh38] Chr1:46657799 [GRCh37] Chr1:1p34.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017739.3(POMGNT1):c.466G>A (p.Glu156Lys) |
single nucleotide variant |
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_001290129.1(POMGNT1):c.*5_*7TCC[1] |
microsatellite |
Muscle eye brain disease [RCV000670603] |
Chr1:46189260..46189262 [GRCh38] Chr1:46654932..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-dystroglycanopathy, type C3 [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]|Muscle eye brain disease [RCV001275227]|not provided [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 |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001247989]|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] |
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 provided [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-dystroglycanopathy, type C3 [RCV000270884]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001088107]|not provided [RCV000732410] |
Chr1:46197076 [GRCh38] Chr1:46662748 [GRCh37] Chr1:1p34.1 |
likely benign|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_001243766.1(POMGNT1):c.1869+56A>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-dystroglycanopathy, type C3 [RCV000283595]|not specified [RCV000245127] |
Chr1:46197689 [GRCh38] Chr1:46663361 [GRCh37] Chr1:1p34.1 |
benign|likely 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-dystroglycanopathy, type C3 [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_001290130.1(POMGNT1):c.-71T>G |
single nucleotide variant |
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 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 [RCV001333961]|Retinitis pigmentosa 76 [RCV000240954] |
Chr1:46194293 [GRCh38] Chr1:46659965 [GRCh37] Chr1:1p34.1 |
pathogenic|uncertain significance |
NM_017739.3(POMGNT1):c.*451C>T |
single nucleotide variant |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000350895]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000296026] |
Chr1:46188819 [GRCh38] Chr1:46654491 [GRCh37] Chr1:1p34.1 |
likely benign|uncertain significance |
NM_017739.3(POMGNT1):c.1077T>C (p.Thr359=) |
single nucleotide variant |
not provided [RCV000270489] |
Chr1:46193338 [GRCh38] Chr1:46659010 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_001290130.1(POMGNT1):c.-34T>C |
single nucleotide variant |
not provided [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 provided [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 provided [RCV000271426] |
Chr1:46195842 [GRCh38] Chr1:46661514 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.3(POMGNT1):c.758A>T (p.Glu253Val) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001348185]|not provided [RCV000271137] |
Chr1:46194395 [GRCh38] Chr1:46660067 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.3(POMGNT1):c.1111-6T>C |
single nucleotide variant |
not provided [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 provided [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 provided [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 provided [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]|Muscle eye brain disease [RCV001272277]|not provided [RCV000725149] |
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 provided [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 [RCV001079134]|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 provided [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 provided [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 provided [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 provided [RCV000319103] |
Chr1:46192342 [GRCh38] Chr1:46658014 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.3(POMGNT1):c.286C>T (p.Arg96Trp) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001246342]|Muscle eye brain disease [RCV001275756]|not provided [RCV000658410] |
Chr1:46196799 [GRCh38] Chr1:46662471 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.3(POMGNT1):c.1457G>T (p.Arg486Leu) |
single nucleotide variant |
not provided [RCV000286944] |
Chr1:46192180 [GRCh38] Chr1:46657852 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.3(POMGNT1):c.652+6G>A |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001242504]|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 provided [RCV000354413] |
Chr1:46195893 [GRCh38] Chr1:46661565 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.3(POMGNT1):c.120+3A>G |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001231293]|not provided [RCV000395118] |
Chr1:46197699 [GRCh38] Chr1:46663371 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.3(POMGNT1):c.266G>A (p.Arg89Gln) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001057584]|Muscle eye brain disease [RCV001272276]|not provided [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 provided [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 provided [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 |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001214468]|not provided [RCV000325705] |
Chr1:46194836 [GRCh38] Chr1:46660508 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.3(POMGNT1):c.355-9A>G |
single nucleotide variant |
not provided [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 provided [RCV000396441] |
Chr1:46193187 [GRCh38] Chr1:46658859 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.3(POMGNT1):c.289C>T (p.Arg97Trp) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [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]|Muscle eye brain disease [RCV001275232]|not provided [RCV000291524] |
Chr1:46192098 [GRCh38] Chr1:46657770 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.3(POMGNT1):c.1923A>C (p.Pro641=) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001085021]|not provided [RCV000362367] |
Chr1:46189330 [GRCh38] Chr1:46655002 [GRCh37] Chr1:1p34.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017739.3(POMGNT1):c.1813C>T (p.Arg605Cys) |
single nucleotide variant |
not provided [RCV000397961] |
Chr1:46189540 [GRCh38] Chr1:46655212 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.3(POMGNT1):c.1157C>T (p.Ala386Val) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001312386]|not provided [RCV000295360] |
Chr1:46192954 [GRCh38] Chr1:46658626 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_001290130.1(POMGNT1):c.-12A>G |
single nucleotide variant |
not provided [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 provided [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 provided [RCV000297578] |
Chr1:46189528 [GRCh38] Chr1:46655200 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.4(POMGNT1):c.268C>T |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001233854]|Muscle eye brain disease [RCV001277597]|not provided [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 provided [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]|Muscle eye brain disease [RCV001272278]|not provided [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 provided [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 provided [RCV000369380] |
Chr1:46194598 [GRCh38] Chr1:46660270 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.3(POMGNT1):c.1456C>G (p.Arg486Gly) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001213923]|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 provided [RCV000302178] |
Chr1:46190477 [GRCh38] Chr1:46656149 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.3(POMGNT1):c.1933G>C (p.Glu645Gln) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001247522]|not provided [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]|Muscle eye brain disease [RCV001277250]|not provided [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]|Muscle eye brain disease [RCV001275757]|not provided [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_017739.4(POMGNT1):c.512G>A (p.Arg171Gln) |
single nucleotide variant |
Muscle eye brain disease [RCV001277596] |
Chr1:46195833 [GRCh38] Chr1:46661505 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.3(POMGNT1):c.1786-6C>T |
single nucleotide variant |
Muscle eye brain disease [RCV001275229]|not provided [RCV000596002] |
Chr1:46189573 [GRCh38] Chr1:46655245 [GRCh37] Chr1:1p34.1 |
likely benign|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-dystroglycanopathy, type C3 [RCV000387886] |
Chr1:46193583 [GRCh38] Chr1:46659255 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.3(POMGNT1):c.1924A>G (p.Ile642Val) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001070882]|not provided [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-dystroglycanopathy, type C3 [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-dystroglycanopathy, type C3 [RCV000385067] |
Chr1:46197084 [GRCh38] Chr1:46662756 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.3(POMGNT1):c.888C>A (p.Asp296Glu) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001312267]|not provided [RCV000591678] |
Chr1:46193917 [GRCh38] Chr1:46659589 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.3(POMGNT1):c.1738C>A (p.Arg580=) |
single nucleotide variant |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001097777]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001097778]|not provided [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 provided [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 provided [RCV000595995] |
Chr1:46189956 [GRCh38] Chr1:46655628 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.3(POMGNT1):c.1284+8G>A |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [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 |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001236085]|not provided [RCV000592582] |
Chr1:46193333 [GRCh38] Chr1:46659005 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.3(POMGNT1):c.1596T>C (p.Asn532=) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001088509]|not provided [RCV000592757]|not specified [RCV001288362] |
Chr1:46190728 [GRCh38] Chr1:46656400 [GRCh37] Chr1:1p34.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017739.3(POMGNT1):c.1264A>C (p.Ile422Leu) |
single nucleotide variant |
not provided [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 provided [RCV000593050] |
Chr1:46197806 [GRCh38] Chr1:46663478 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.3(POMGNT1):c.880-4A>C |
single nucleotide variant |
not provided [RCV000591029] |
Chr1:46193929 [GRCh38] Chr1:46659601 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_017739.3(POMGNT1):c.358C>G (p.Leu120Val) |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001296019]|not provided [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 |
not provided [RCV000597718] |
Chr1:46195867..46195868 [GRCh38] Chr1:46661539..46661540 [GRCh37] Chr1:1p34.1 |
pathogenic |
NM_017739.3(POMGNT1):c.120+6G>C |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001070014]|not provided [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 provided [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 provided [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_001290130.1(POMGNT1):c.-304G>T |
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 provided [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_001290130.1(POMGNT1):c.-227C>G |
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 |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001038189]|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 |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001248054]|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_001290130.1(POMGNT1):c.-273G>A |
single nucleotide variant |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001209334]|not provided [RCV000729780] |
Chr1:46197048 [GRCh38] Chr1:46662720 [GRCh37] Chr1:1p34.1 |
uncertain significance |
NM_001243766.1(POMGNT1):c.1438C>T (p.Arg480Trp) |
single nucleotide variant |
Retinitis pigmentosa 76 [RCV001262482]|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 |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001239878]|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 |
Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001096118]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000873590]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001096117]|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 |
Muscle eye brain disease [RCV001277257]|not provided [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 |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [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 |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001240358]|not provided [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] |
Chr1:46195933..46195934 [GRCh38] Chr1:46661605..46661606 [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 provided [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]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001007817]|Muscle eye brain disease [RCV001275753] |
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]|Muscle eye brain disease [RCV001275755]|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 provided [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 provided [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_001290130.1(POMGNT1):c.-4C>T |
single nucleotide variant |
not provided [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 |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [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 provided [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 |
|