| NM_004393.6(DAG1):c.384G>A (p.Val128=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001450162]|not provided [RCV000729147] |
Chr3:49530895 [GRCh38]
Chr3:49568328 [GRCh37]
Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004393.6(DAG1):c.1442G>C (p.Arg481Pro) |
single nucleotide variant |
not provided [RCV001764512]|not specified [RCV000516894] |
Chr3:49531953 [GRCh38]
Chr3:49569386 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2511C>T (p.Pro837=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000542744] |
Chr3:49533022 [GRCh38]
Chr3:49570455 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_001165928.3(DAG1):c.(?_-729)_(*2416_?)del |
deletion |
not provided [RCV000024454] |
Chr3:49470182..49535615 [GRCh38]
Chr3:49507615..49573048 [GRCh37]
Chr3:3p21.31 |
not provided |
| NM_004393.6(DAG1):c.1739C>T (p.Thr580Ile) |
single nucleotide variant |
not provided [RCV000728472] |
Chr3:49532250 [GRCh38]
Chr3:49569683 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.904AAG[1] (p.Lys303del) |
microsatellite |
not provided [RCV000729092] |
Chr3:49531415..49531417 [GRCh38]
Chr3:49568848..49568850 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1122C>T (p.Gly374=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001442149] |
Chr3:49531633 [GRCh38]
Chr3:49569066 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1401C>T (p.Ser467=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001434028] |
Chr3:49531912 [GRCh38]
Chr3:49569345 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1662C>T (p.Phe554=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001495025] |
Chr3:49532173 [GRCh38]
Chr3:49569606 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.402C>T (p.Ser134=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000545372] |
Chr3:49530913 [GRCh38]
Chr3:49568346 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.575C>T (p.Thr192Met) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000022532]|Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001044548]|not provided [RCV000024453] |
Chr3:49531086 [GRCh38]
Chr3:49568519 [GRCh37]
Chr3:3p21.31 |
pathogenic|uncertain significance|not provided |
| NM_004393.6(DAG1):c.2256C>T (p.His752=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000609944]|Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001514706]|not provided [RCV000024446]|not specified [RCV000116863] |
Chr3:49532767 [GRCh38]
Chr3:49570200 [GRCh37]
Chr3:3p21.31 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_004393.6(DAG1):c.41= (p.Ser14=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001083715]|not provided [RCV000024443]|not specified [RCV001288142] |
Chr3:49510575 [GRCh38]
Chr3:49548008 [GRCh37]
Chr3:3p21.31 |
benign|not provided |
| NM_004393.6(DAG1):c.285+42T>C |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001659728]|not provided [RCV000024444]|not specified [RCV000243676] |
Chr3:49510861 [GRCh38]
Chr3:49548294 [GRCh37]
Chr3:3p21.31 |
benign|not provided |
| NM_004393.6(DAG1):c.286-135G>A |
single nucleotide variant |
not provided [RCV000024445] |
Chr3:49530662 [GRCh38]
Chr3:49568095 [GRCh37]
Chr3:3p21.31 |
benign|not provided |
| NM_004393.6(DAG1):c.1773C>T (p.Phe591=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001088550]|not provided [RCV000024447] |
Chr3:49532284 [GRCh38]
Chr3:49569717 [GRCh37]
Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_004393.6(DAG1):c.*250T>C |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002496442]|not provided [RCV000024448] |
Chr3:49533449 [GRCh38]
Chr3:49570882 [GRCh37]
Chr3:3p21.31 |
benign|not provided |
| NM_004393.6(DAG1):c.*830G>T |
single nucleotide variant |
not provided [RCV000024449] |
Chr3:49534029 [GRCh38]
Chr3:49571462 [GRCh37]
Chr3:3p21.31 |
not provided |
| NM_004393.6(DAG1):c.*1508A>G |
single nucleotide variant |
not provided [RCV000024450] |
Chr3:49534707 [GRCh38]
Chr3:49572140 [GRCh37]
Chr3:3p21.31 |
not provided |
| NM_004393.6(DAG1):c.*2262= |
single nucleotide variant |
not provided [RCV000024451] |
Chr3:49535461 [GRCh38]
Chr3:49572894 [GRCh37]
Chr3:3p21.31 |
not provided |
| NM_004393.6(DAG1):c.-116-291T>G |
single nucleotide variant |
not provided [RCV000024452] |
Chr3:49510128 [GRCh38]
Chr3:49547561 [GRCh37]
Chr3:3p21.31 |
not provided |
| GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1 |
copy number loss |
See cases [RCV000051511] |
Chr3:49461000..55314500 [GRCh38]
Chr3:49498433..55348528 [GRCh37]
Chr3:49473437..55323568 [NCBI36]
Chr3:3p21.31-14.3 |
pathogenic |
| NM_004393.6(DAG1):c.259A>G (p.Ile87Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001081724]|DAG1-related condition [RCV003891624]|not provided [RCV000514706]|not specified [RCV000116864] |
Chr3:49510793 [GRCh38]
Chr3:49548226 [GRCh37]
Chr3:3p21.31 |
benign|likely benign|conflicting interpretations of pathogenicity |
| GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4 |
copy number gain |
See cases [RCV000133650] |
Chr3:45879883..50749922 [GRCh38]
Chr3:45921375..50787353 [GRCh37]
Chr3:45896379..50762357 [NCBI36]
Chr3:3p21.31-21.2 |
pathogenic |
| NM_004393.6(DAG1):c.272G>A (p.Gly91Glu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001865754]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 [RCV001332441] |
Chr3:49510806 [GRCh38]
Chr3:49548239 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.258G>C (p.Leu86Phe) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001080136]|DAG1-related condition [RCV003891718]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 [RCV001262919]|not provided [RCV000543538]|not specified [RCV000175779] |
Chr3:49510792 [GRCh38]
Chr3:49548225 [GRCh37]
Chr3:3p21.31 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004393.6(DAG1):c.897C>A (p.Ile299=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001996719] |
Chr3:49531408 [GRCh38]
Chr3:49568841 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.220G>A (p.Val74Ile) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000190545]|Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001857671]|not provided [RCV003144154] |
Chr3:49510754 [GRCh38]
Chr3:49548187 [GRCh37]
Chr3:3p21.31 |
pathogenic|uncertain significance |
| NM_004393.6(DAG1):c.331G>A (p.Asp111Asn) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000190546]|Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000556875]|DAG1-related condition [RCV003907668]|not provided [RCV001723761]|not specified [RCV000335532] |
Chr3:49530842 [GRCh38]
Chr3:49568275 [GRCh37]
Chr3:3p21.31 |
pathogenic|benign|likely benign |
| NM_004393.6(DAG1):c.2006G>T (p.Cys669Phe) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001224389]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 [RCV000190547]|not provided [RCV001781562] |
Chr3:49532517 [GRCh38]
Chr3:49569950 [GRCh37]
Chr3:3p21.31 |
pathogenic|likely pathogenic|uncertain significance |
| NM_004393.6(DAG1):c.743del (p.Ala248fs) |
deletion |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 [RCV000190548] |
Chr3:49531254 [GRCh38]
Chr3:49568687 [GRCh37]
Chr3:3p21.31 |
pathogenic |
| NM_004393.6(DAG1):c.1233G>A (p.Val411=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000558401]|DAG1-related condition [RCV003917647]|not provided [RCV001289404]|not specified [RCV000177200] |
Chr3:49531744 [GRCh38]
Chr3:49569177 [GRCh37]
Chr3:3p21.31 |
benign|likely benign |
| NM_004393.6(DAG1):c.219C>T (p.Val73=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001500510]|not provided [RCV000597188]|not specified [RCV001662643] |
Chr3:49510753 [GRCh38]
Chr3:49548186 [GRCh37]
Chr3:3p21.31 |
benign|likely benign|uncertain significance |
| NM_004393.6(DAG1):c.183T>C (p.Val61=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001081487]|DAG1-related condition [RCV003977432]|not provided [RCV000175780] |
Chr3:49510717 [GRCh38]
Chr3:49548150 [GRCh37]
Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004393.6(DAG1):c.1360C>T (p.Arg454Trp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000702399]|not provided [RCV000177197] |
Chr3:49531871 [GRCh38]
Chr3:49569304 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1436G>A (p.Arg479His) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001852185]|Inborn genetic diseases [RCV002516730]|not provided [RCV000177198] |
Chr3:49531947 [GRCh38]
Chr3:49569380 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.965C>T (p.Thr322Ile) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000697501]|not provided [RCV000177199] |
Chr3:49531476 [GRCh38]
Chr3:49568909 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.498G>A (p.Ser166=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002516731]|not provided [RCV000724576]|not specified [RCV000253204] |
Chr3:49531009 [GRCh38]
Chr3:49568442 [GRCh37]
Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004393.6(DAG1):c.2196G>A (p.Pro732=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001397474]|not provided [RCV000177202] |
Chr3:49532707 [GRCh38]
Chr3:49570140 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.735G>A (p.Pro245=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000558693]|not provided [RCV000177203]|not specified [RCV001818427] |
Chr3:49531246 [GRCh38]
Chr3:49568679 [GRCh37]
Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004393.6(DAG1):c.599C>G (p.Thr200Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000550978]|not provided [RCV001704844]|not specified [RCV000245202] |
Chr3:49531110 [GRCh38]
Chr3:49568543 [GRCh37]
Chr3:3p21.31 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004393.6(DAG1):c.2065C>T (p.Arg689Trp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002517069]|not specified [RCV000192627] |
Chr3:49532576 [GRCh38]
Chr3:49570009 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2231G>C (p.Ser744Thr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000554129]|not specified [RCV000217845] |
Chr3:49532742 [GRCh38]
Chr3:49570175 [GRCh37]
Chr3:3p21.31 |
benign |
| NM_004393.6(DAG1):c.41C>G (p.Ser14Trp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000987273]|Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001520458]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 [RCV001658008]|not specified [RCV000214409] |
Chr3:49510575 [GRCh38]
Chr3:49548008 [GRCh37]
Chr3:3p21.31 |
pathogenic|benign |
| NM_004393.6(DAG1):c.2652C>A (p.Thr884=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002065160]|DAG1-related condition [RCV003892139]|not provided [RCV000595656] |
Chr3:49533163 [GRCh38]
Chr3:49570596 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3 |
copy number gain |
See cases [RCV000240519] |
Chr3:37028313..49929220 [GRCh37]
Chr3:3p22.2-21.31 |
likely pathogenic |
| NM_004393.6(DAG1):c.384G>T (p.Val128=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000648806]|DAG1-related condition [RCV003891891]|not specified [RCV000248631] |
Chr3:49530895 [GRCh38]
Chr3:49568328 [GRCh37]
Chr3:3p21.31 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004393.6(DAG1):c.1701C>T (p.Ser567=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000535392]|not provided [RCV003437036]|not specified [RCV000244261] |
Chr3:49532212 [GRCh38]
Chr3:49569645 [GRCh37]
Chr3:3p21.31 |
benign|conflicting interpretations of pathogenicity |
| NM_004393.6(DAG1):c.2036G>A (p.Arg679His) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001088750]|DAG1-related condition [RCV003891890]|not provided [RCV000548834]|not specified [RCV000247613] |
Chr3:49532547 [GRCh38]
Chr3:49569980 [GRCh37]
Chr3:3p21.31 |
benign|likely benign |
| NM_004393.6(DAG1):c.1308G>A (p.Thr436=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001088417]|not provided [RCV000725488]|not specified [RCV000252680] |
Chr3:49531819 [GRCh38]
Chr3:49569252 [GRCh37]
Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004393.6(DAG1):c.1487G>T (p.Arg496Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000648795]|not provided [RCV003333991]|not specified [RCV000518144] |
Chr3:49531998 [GRCh38]
Chr3:49569431 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2618T>C (p.Met873Thr) |
single nucleotide variant |
not provided [RCV000305116] |
Chr3:49533129 [GRCh38]
Chr3:49570562 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.148A>G (p.Met50Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000811530]|not provided [RCV000372770] |
Chr3:49510682 [GRCh38]
Chr3:49548115 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1307C>T (p.Thr436Met) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000648788]|not provided [RCV000711407] |
Chr3:49531818 [GRCh38]
Chr3:49569251 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.695A>G (p.Asn232Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001855142]|not provided [RCV000270406] |
Chr3:49531206 [GRCh38]
Chr3:49568639 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2171C>G (p.Pro724Arg) |
single nucleotide variant |
not provided [RCV000271729] |
Chr3:49532682 [GRCh38]
Chr3:49570115 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1432A>G (p.Thr478Ala) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001343756]|not provided [RCV000306930] |
Chr3:49531943 [GRCh38]
Chr3:49569376 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1641C>T (p.Gly547=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001087927]|not provided [RCV000273500] |
Chr3:49532152 [GRCh38]
Chr3:49569585 [GRCh37]
Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004393.6(DAG1):c.1051A>G (p.Thr351Ala) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000533527]|not provided [RCV000307856] |
Chr3:49531562 [GRCh38]
Chr3:49568995 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2326C>G (p.Arg776Gly) |
single nucleotide variant |
not provided [RCV000378052] |
Chr3:49532837 [GRCh38]
Chr3:49570270 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1719C>T (p.His573=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001478563]|not provided [RCV000726227]|not specified [RCV000276518] |
Chr3:49532230 [GRCh38]
Chr3:49569663 [GRCh37]
Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004393.6(DAG1):c.1875G>A (p.Lys625=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003765622]|not provided [RCV000342272] |
Chr3:49532386 [GRCh38]
Chr3:49569819 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.1774G>A (p.Glu592Lys) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001859712]|not provided [RCV000380012] |
Chr3:49532285 [GRCh38]
Chr3:49569718 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1212G>A (p.Thr404=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001087202]|not provided [RCV000725989] |
Chr3:49531723 [GRCh38]
Chr3:49569156 [GRCh37]
Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004393.6(DAG1):c.1257del (p.Thr421fs) |
deletion |
not provided [RCV000312585] |
Chr3:49531768 [GRCh38]
Chr3:49569201 [GRCh37]
Chr3:3p21.31 |
likely pathogenic |
| NM_004393.6(DAG1):c.1046C>T (p.Pro349Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000648784]|not provided [RCV000280190] |
Chr3:49531557 [GRCh38]
Chr3:49568990 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.93G>T (p.Trp31Cys) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001859726]|not provided [RCV000282837] |
Chr3:49510627 [GRCh38]
Chr3:49548060 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000648789]|DAG1-related condition [RCV003909946]|Inborn genetic diseases [RCV002521895]|not provided [RCV000711406] |
Chr3:49531533 [GRCh38]
Chr3:49568966 [GRCh37]
Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004393.6(DAG1):c.2313C>T (p.Ala771=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001088156]|not provided [RCV000284282] |
Chr3:49532824 [GRCh38]
Chr3:49570257 [GRCh37]
Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004393.6(DAG1):c.2169A>T (p.Pro723=) |
single nucleotide variant |
not provided [RCV000284792] |
Chr3:49532680 [GRCh38]
Chr3:49570113 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2580G>A (p.Ala860=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003765672]|not provided [RCV000316862] |
Chr3:49533091 [GRCh38]
Chr3:49570524 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.2039G>A (p.Arg680Gln) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001217055]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 [RCV001332440]|not provided [RCV000353577] |
Chr3:49532550 [GRCh38]
Chr3:49569983 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1690C>A (p.Leu564Ile) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000704955]|not provided [RCV000725241]|not specified [RCV000390758] |
Chr3:49532201 [GRCh38]
Chr3:49569634 [GRCh37]
Chr3:3p21.31 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_004393.6(DAG1):c.717G>A (p.Ser239=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001439897]|not provided [RCV000288424] |
Chr3:49531228 [GRCh38]
Chr3:49568661 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.2520T>C (p.Thr840=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000555044]|not provided [RCV001705418]|not specified [RCV000288741] |
Chr3:49533031 [GRCh38]
Chr3:49570464 [GRCh37]
Chr3:3p21.31 |
benign|likely benign|uncertain significance |
| NM_004393.6(DAG1):c.244A>G (p.Ile82Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000824308]|Inborn genetic diseases [RCV002521953]|not provided [RCV000289440] |
Chr3:49510778 [GRCh38]
Chr3:49548211 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.286-10del |
deletion |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000544627]|DAG1-related condition [RCV003930058]|not provided [RCV003114444]|not specified [RCV000322820] |
Chr3:49530787 [GRCh38]
Chr3:49568220 [GRCh37]
Chr3:3p21.31 |
benign|likely benign |
| NM_004393.6(DAG1):c.2326C>T (p.Arg776Cys) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000807544]|not provided [RCV000393636]|not specified [RCV003387825] |
Chr3:49532837 [GRCh38]
Chr3:49570270 [GRCh37]
Chr3:3p21.31 |
likely pathogenic|uncertain significance |
| NM_004393.6(DAG1):c.2192C>T (p.Ala731Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001500518]|not provided [RCV000325409] |
Chr3:49532703 [GRCh38]
Chr3:49570136 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.2575A>C (p.Asn859His) |
single nucleotide variant |
not provided [RCV000359743] |
Chr3:49533086 [GRCh38]
Chr3:49570519 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.932G>C (p.Arg311Pro) |
single nucleotide variant |
not provided [RCV000394489] |
Chr3:49531443 [GRCh38]
Chr3:49568876 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1205G>T (p.Arg402Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001054150]|Inborn genetic diseases [RCV002518847]|not provided [RCV000259820] |
Chr3:49531716 [GRCh38]
Chr3:49569149 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2069C>T (p.Pro690Leu) |
single nucleotide variant |
not provided [RCV000260259] |
Chr3:49532580 [GRCh38]
Chr3:49570013 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1954C>T (p.Arg652Trp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001859613]|not provided [RCV000292624] |
Chr3:49532465 [GRCh38]
Chr3:49569898 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2510C>G (p.Pro837Arg) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001859641]|Inborn genetic diseases [RCV002519213]|not provided [RCV000292664] |
Chr3:49533021 [GRCh38]
Chr3:49570454 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1848G>A (p.Pro616=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002059311]|not provided [RCV000326601] |
Chr3:49532359 [GRCh38]
Chr3:49569792 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.372T>G (p.Thr124=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002059190]|not provided [RCV000261770] |
Chr3:49530883 [GRCh38]
Chr3:49568316 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.2561G>A (p.Arg854Gln) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000531222]|Inborn genetic diseases [RCV002518866]|not provided [RCV000294616] |
Chr3:49533072 [GRCh38]
Chr3:49570505 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2208G>A (p.Val736=) |
single nucleotide variant |
not provided [RCV000328063] |
Chr3:49532719 [GRCh38]
Chr3:49570152 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2082C>T (p.Asn694=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001084566]|not provided [RCV000329373] |
Chr3:49532593 [GRCh38]
Chr3:49570026 [GRCh37]
Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004393.6(DAG1):c.2141G>T (p.Arg714Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002518859]|not provided [RCV000329465] |
Chr3:49532652 [GRCh38]
Chr3:49570085 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2416G>A (p.Asp806Asn) |
single nucleotide variant |
not provided [RCV000400122] |
Chr3:49532927 [GRCh38]
Chr3:49570360 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.278T>C (p.Ile93Thr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001085470]|DAG1-related condition [RCV003930051]|not provided [RCV000724971] |
Chr3:49510812 [GRCh38]
Chr3:49548245 [GRCh37]
Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004393.6(DAG1):c.185C>T (p.Pro62Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000648799]|Inborn genetic diseases [RCV002521888]|not provided [RCV000331631] |
Chr3:49510719 [GRCh38]
Chr3:49548152 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1695C>T (p.Pro565=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001446984]|not provided [RCV000332348] |
Chr3:49532206 [GRCh38]
Chr3:49569639 [GRCh37]
Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004393.6(DAG1):c.403G>T (p.Ala135Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001859618]|not provided [RCV000365148] |
Chr3:49530914 [GRCh38]
Chr3:49568347 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2451C>T (p.Leu817=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002059142]|not provided [RCV000365250] |
Chr3:49532962 [GRCh38]
Chr3:49570395 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.1905C>T (p.Phe635=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001081466]|not provided [RCV000402242] |
Chr3:49532416 [GRCh38]
Chr3:49569849 [GRCh37]
Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004393.6(DAG1):c.634C>A (p.His212Asn) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000817809]|Inborn genetic diseases [RCV002519105]|not provided [RCV000403851] |
Chr3:49531145 [GRCh38]
Chr3:49568578 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1206C>T (p.Arg402=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001486789]|not provided [RCV000298440] |
Chr3:49531717 [GRCh38]
Chr3:49569150 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.1370G>A (p.Arg457Gln) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001226324]|not provided [RCV000300328] |
Chr3:49531881 [GRCh38]
Chr3:49569314 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1280C>T (p.Pro427Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000695642]|Inborn genetic diseases [RCV002518967]|not provided [RCV000332901] |
Chr3:49531791 [GRCh38]
Chr3:49569224 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.294G>A (p.Ala98=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001078727]|not provided [RCV000369485] |
Chr3:49530805 [GRCh38]
Chr3:49568238 [GRCh37]
Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004393.6(DAG1):c.2335C>T (p.Arg779Trp) |
single nucleotide variant |
not provided [RCV000405402] |
Chr3:49532846 [GRCh38]
Chr3:49570279 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2043C>T (p.Ile681=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002519153]|not provided [RCV000301542] |
Chr3:49532554 [GRCh38]
Chr3:49569987 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.1306A>G (p.Thr436Ala) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000534438]|Inborn genetic diseases [RCV003165738]|not provided [RCV000658321] |
Chr3:49531817 [GRCh38]
Chr3:49569250 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.510C>T (p.Ala170=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001455960]|not provided [RCV000334505] |
Chr3:49531021 [GRCh38]
Chr3:49568454 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.804G>A (p.Gln268=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001496228]|not provided [RCV000336322] |
Chr3:49531315 [GRCh38]
Chr3:49568748 [GRCh37]
Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004393.6(DAG1):c.2035C>T (p.Arg679Cys) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001344862]|Inborn genetic diseases [RCV002518963]|not provided [RCV000371914] |
Chr3:49532546 [GRCh38]
Chr3:49569979 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1799A>G (p.Gln600Arg) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001040592]|not provided [RCV000594837] |
Chr3:49532310 [GRCh38]
Chr3:49569743 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2553G>A (p.Thr851=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003767404]|not provided [RCV000596730] |
Chr3:49533064 [GRCh38]
Chr3:49570497 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.356G>T (p.Gly119Val) |
single nucleotide variant |
not provided [RCV000596679] |
Chr3:49530867 [GRCh38]
Chr3:49568300 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1571A>G (p.Tyr524Cys) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003767358]|not provided [RCV000598102] |
Chr3:49532082 [GRCh38]
Chr3:49569515 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2124G>C (p.Thr708=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001394001]|not provided [RCV000598362] |
Chr3:49532635 [GRCh38]
Chr3:49570068 [GRCh37]
Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004393.6(DAG1):c.537A>G (p.Ser179=) |
single nucleotide variant |
not provided [RCV000591757] |
Chr3:49531048 [GRCh38]
Chr3:49568481 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1874AGA[1] (p.Lys626del) |
microsatellite |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001867916]|not provided [RCV000592314] |
Chr3:49532384..49532386 [GRCh38]
Chr3:49569817..49569819 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.222C>T (p.Val74=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002060994]|not provided [RCV000730457] |
Chr3:49510756 [GRCh38]
Chr3:49548189 [GRCh37]
Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004393.6(DAG1):c.1105A>G (p.Thr369Ala) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001867981]|not provided [RCV000592785] |
Chr3:49531616 [GRCh38]
Chr3:49569049 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1807A>G (p.Arg603Gly) |
single nucleotide variant |
not provided [RCV000596587] |
Chr3:49532318 [GRCh38]
Chr3:49569751 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1591_1593del (p.Thr531del) |
deletion |
not provided [RCV000729224] |
Chr3:49532102..49532104 [GRCh38]
Chr3:49569535..49569537 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2251C>T (p.Leu751=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002062080]|not provided [RCV000597405] |
Chr3:49532762 [GRCh38]
Chr3:49570195 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.1477C>T (p.Pro493Ser) |
single nucleotide variant |
not provided [RCV000597569] |
Chr3:49531988 [GRCh38]
Chr3:49569421 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.193G>A (p.Val65Ile) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000528440]|Inborn genetic diseases [RCV002530089] |
Chr3:49510727 [GRCh38]
Chr3:49548160 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2184C>T (p.Pro728=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002062108]|not provided [RCV000598322] |
Chr3:49532695 [GRCh38]
Chr3:49570128 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.1210A>G (p.Thr404Ala) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000695924]|Inborn genetic diseases [RCV002532454]|not provided [RCV000591477] |
Chr3:49531721 [GRCh38]
Chr3:49569154 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.623T>C (p.Ile208Thr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000691718]|not provided [RCV000592096] |
Chr3:49531134 [GRCh38]
Chr3:49568567 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2647A>G (p.Met883Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001372717]|not provided [RCV000732019] |
Chr3:49533158 [GRCh38]
Chr3:49570591 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1622G>A (p.Arg541Gln) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001327018]|not provided [RCV000732188] |
Chr3:49532133 [GRCh38]
Chr3:49569566 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2083G>A (p.Ala695Thr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001352292]|not provided [RCV000595420] |
Chr3:49532594 [GRCh38]
Chr3:49570027 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.532G>T (p.Val178Leu) |
single nucleotide variant |
not provided [RCV000732246] |
Chr3:49531043 [GRCh38]
Chr3:49568476 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.*9C>T |
single nucleotide variant |
not provided [RCV000733178] |
Chr3:49533208 [GRCh38]
Chr3:49570641 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2123C>T (p.Thr708Met) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000818915]|Inborn genetic diseases [RCV003303222]|not provided [RCV000733878] |
Chr3:49532634 [GRCh38]
Chr3:49570067 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.2165T>G (p.Val722Gly) |
single nucleotide variant |
not provided [RCV000732484] |
Chr3:49532676 [GRCh38]
Chr3:49570109 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2589C>T (p.Tyr863=) |
single nucleotide variant |
not provided [RCV000733994] |
Chr3:49533100 [GRCh38]
Chr3:49570533 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1965C>T (p.Ile655=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001470084]|not provided [RCV000732556] |
Chr3:49532476 [GRCh38]
Chr3:49569909 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.2415C>T (p.Asp805=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001088441]|not provided [RCV000734118] |
Chr3:49532926 [GRCh38]
Chr3:49570359 [GRCh37]
Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004393.6(DAG1):c.1205G>A (p.Arg402His) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001039623]|Inborn genetic diseases [RCV002535225]|not provided [RCV000731618] |
Chr3:49531716 [GRCh38]
Chr3:49569149 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1792C>T (p.Arg598Cys) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001855785]|not provided [RCV000733598] |
Chr3:49532303 [GRCh38]
Chr3:49569736 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.932G>A (p.Arg311Gln) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000793303]|Myopathy [RCV000415087]|not provided [RCV003144252] |
Chr3:49531443 [GRCh38]
Chr3:49568876 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2659C>T (p.Arg887Trp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001868987]|not provided [RCV000733730] |
Chr3:49533170 [GRCh38]
Chr3:49570603 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.552G>C (p.Ala184=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001502161]|not provided [RCV000727945] |
Chr3:49531063 [GRCh38]
Chr3:49568496 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.385C>T (p.His129Tyr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002532631]|not provided [RCV000595143] |
Chr3:49530896 [GRCh38]
Chr3:49568329 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1240A>T (p.Thr414Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001036264]|Inborn genetic diseases [RCV002533084]|not provided [RCV000728184] |
Chr3:49531751 [GRCh38]
Chr3:49569184 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.-136G>A |
single nucleotide variant |
not specified [RCV000420613] |
Chr3:49470414 [GRCh38]
Chr3:49507847 [GRCh37]
Chr3:3p21.31 |
benign |
| NM_004393.6(DAG1):c.-130C>T |
single nucleotide variant |
not specified [RCV000431285] |
Chr3:49470420 [GRCh38]
Chr3:49507853 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2610A>C (p.Thr870=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003766413]|not specified [RCV000441547] |
Chr3:49533121 [GRCh38]
Chr3:49570554 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.927C>T (p.Arg309=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001089270]|DAG1-related condition [RCV003912740]|not provided [RCV000726795]|not specified [RCV000421292] |
Chr3:49531438 [GRCh38]
Chr3:49568871 [GRCh37]
Chr3:3p21.31 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004393.6(DAG1):c.2406C>T (p.Asp802=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002063470]|DAG1-related condition [RCV003959975]|not specified [RCV000439218] |
Chr3:49532917 [GRCh38]
Chr3:49570350 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2271C>T (p.Ala757=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000525746]|not specified [RCV000440281] |
Chr3:49532782 [GRCh38]
Chr3:49570215 [GRCh37]
Chr3:3p21.31 |
benign |
| NM_004393.6(DAG1):c.-116-4dup |
duplication |
not provided [RCV001712565] |
Chr3:49510406..49510407 [GRCh38]
Chr3:49547839..49547840 [GRCh37]
Chr3:3p21.31 |
benign|likely benign |
| NM_004393.6(DAG1):c.2431C>T (p.Pro811Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000648787]|not provided [RCV003144295]|not specified [RCV000503519] |
Chr3:49532942 [GRCh38]
Chr3:49570375 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1782C>T (p.His594=) |
single nucleotide variant |
not specified [RCV000501418] |
Chr3:49532293 [GRCh38]
Chr3:49569726 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1708G>A (p.Val570Met) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001043597]|not provided [RCV000498181] |
Chr3:49532219 [GRCh38]
Chr3:49569652 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.891G>A (p.Trp297Ter) |
single nucleotide variant |
not provided [RCV000498371] |
Chr3:49531402 [GRCh38]
Chr3:49568835 [GRCh37]
Chr3:3p21.31 |
likely pathogenic |
| NM_004393.6(DAG1):c.310_311del (p.Leu104fs) |
deletion |
not provided [RCV000494582] |
Chr3:49530820..49530821 [GRCh38]
Chr3:49568253..49568254 [GRCh37]
Chr3:3p21.31 |
likely pathogenic |
| NM_004393.6(DAG1):c.2270C>T (p.Ala757Val) |
single nucleotide variant |
not provided [RCV000494623] |
Chr3:49532781 [GRCh38]
Chr3:49570214 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1283G>A (p.Arg428Gln) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001071035]|not provided [RCV000493077] |
Chr3:49531794 [GRCh38]
Chr3:49569227 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2141G>A (p.Arg714Gln) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000541817]|not provided [RCV003144344] |
Chr3:49532652 [GRCh38]
Chr3:49570085 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.-34C>T |
single nucleotide variant |
not specified [RCV000602591] |
Chr3:49510501 [GRCh38]
Chr3:49547934 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.473C>T (p.Pro158Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001036812]|not provided [RCV000593938] |
Chr3:49530984 [GRCh38]
Chr3:49568417 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1674C>T (p.Ser558=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003767522]|DAG1-related condition [RCV003980149]|not specified [RCV000599985] |
Chr3:49532185 [GRCh38]
Chr3:49569618 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.286-5T>C |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003767362]|not provided [RCV000597387] |
Chr3:49530792 [GRCh38]
Chr3:49568225 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.1454G>A (p.Ser485Asn) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001867971]|not provided [RCV000595465] |
Chr3:49531965 [GRCh38]
Chr3:49569398 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1535C>T (p.Thr512Ile) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000559357]|not provided [RCV003144343] |
Chr3:49532046 [GRCh38]
Chr3:49569479 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1204C>T (p.Arg402Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003287569] |
Chr3:49531715 [GRCh38]
Chr3:49569148 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) |
copy number gain |
See cases [RCV000512358] |
Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| NM_004393.6(DAG1):c.2214C>T (p.Asp738=) |
single nucleotide variant |
not specified [RCV000615803] |
Chr3:49532725 [GRCh38]
Chr3:49570158 [GRCh37]
Chr3:3p21.31 |
likely benign |
| GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 |
copy number gain |
See cases [RCV000511055] |
Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| NM_004393.6(DAG1):c.213G>A (p.Thr71=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001229105]|not specified [RCV000602047] |
Chr3:49510747 [GRCh38]
Chr3:49548180 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.454_467del (p.Phe152fs) |
deletion |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000533805] |
Chr3:49530965..49530978 [GRCh38]
Chr3:49568398..49568411 [GRCh37]
Chr3:3p21.31 |
likely pathogenic |
| NM_004393.6(DAG1):c.2349T>C (p.Leu783=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002062017]|DAG1-related condition [RCV003915698]|not provided [RCV000594656] |
Chr3:49532860 [GRCh38]
Chr3:49570293 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.829G>A (p.Val277Ile) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000534893]|not provided [RCV000734229] |
Chr3:49531340 [GRCh38]
Chr3:49568773 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2597dup (p.Pro867fs) |
duplication |
not provided [RCV000595729] |
Chr3:49533103..49533104 [GRCh38]
Chr3:49570536..49570537 [GRCh37]
Chr3:3p21.31 |
likely pathogenic |
| NM_004393.6(DAG1):c.1977G>A (p.Trp659Ter) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000536199] |
Chr3:49532488 [GRCh38]
Chr3:49569921 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2407G>A (p.Glu803Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003266730] |
Chr3:49532918 [GRCh38]
Chr3:49570351 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.41del (p.Ser14fs) |
deletion |
not provided [RCV000597036] |
Chr3:49510575 [GRCh38]
Chr3:49548008 [GRCh37]
Chr3:3p21.31 |
likely pathogenic |
| NM_004393.6(DAG1):c.613A>G (p.Lys205Glu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000648785] |
Chr3:49531124 [GRCh38]
Chr3:49568557 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2576A>G (p.Asn859Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000648786] |
Chr3:49533087 [GRCh38]
Chr3:49570520 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1186A>G (p.Thr396Ala) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000648790]|Inborn genetic diseases [RCV002533359]|not provided [RCV002269297] |
Chr3:49531697 [GRCh38]
Chr3:49569130 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2100T>G (p.Phe700Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000648791] |
Chr3:49532611 [GRCh38]
Chr3:49570044 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.440del (p.Gln147fs) |
deletion |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000648792] |
Chr3:49530951 [GRCh38]
Chr3:49568384 [GRCh37]
Chr3:3p21.31 |
pathogenic |
| NM_004393.6(DAG1):c.1966G>A (p.Val656Met) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000648793] |
Chr3:49532477 [GRCh38]
Chr3:49569910 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2303G>T (p.Gly768Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000648794] |
Chr3:49532814 [GRCh38]
Chr3:49570247 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.424G>A (p.Gly142Arg) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000648796]|not provided [RCV003144431] |
Chr3:49530935 [GRCh38]
Chr3:49568368 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.268A>G (p.Ser90Gly) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000648797] |
Chr3:49510802 [GRCh38]
Chr3:49548235 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1489C>G (p.Pro497Ala) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000648798] |
Chr3:49532000 [GRCh38]
Chr3:49569433 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1757C>T (p.Ser586Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000648800]|not provided [RCV000711408] |
Chr3:49532268 [GRCh38]
Chr3:49569701 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1826A>G (p.Lys609Arg) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000648801]|not provided [RCV003144432] |
Chr3:49532337 [GRCh38]
Chr3:49569770 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2245G>A (p.Val749Ile) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000686727]|not provided [RCV000730208] |
Chr3:49532756 [GRCh38]
Chr3:49570189 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.559C>T (p.Pro187Ser) |
single nucleotide variant |
not provided [RCV000658419] |
Chr3:49531070 [GRCh38]
Chr3:49568503 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.902A>G (p.Asn301Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000702323]|Inborn genetic diseases [RCV002536354] |
Chr3:49531413 [GRCh38]
Chr3:49568846 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2124G>A (p.Thr708=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000698656] |
Chr3:49532635 [GRCh38]
Chr3:49570068 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.23C>T (p.Ser8Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000706924]|Inborn genetic diseases [RCV002532858]|not provided [RCV003144570] |
Chr3:49510557 [GRCh38]
Chr3:49547990 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.496T>G (p.Ser166Ala) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000707433] |
Chr3:49531007 [GRCh38]
Chr3:49568440 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.712A>G (p.Met238Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000688576] |
Chr3:49531223 [GRCh38]
Chr3:49568656 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1543G>A (p.Glu515Lys) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000705913]|not provided [RCV003144566] |
Chr3:49532054 [GRCh38]
Chr3:49569487 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.212C>A (p.Thr71Lys) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000698659]|not provided [RCV000730056] |
Chr3:49510746 [GRCh38]
Chr3:49548179 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2479C>T (p.Pro827Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000692605] |
Chr3:49532990 [GRCh38]
Chr3:49570423 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1883_1887delinsACTTT (p.Ala628_Leu629delinsAspPhe) |
indel |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000704656] |
Chr3:49532394..49532398 [GRCh38]
Chr3:49569827..49569831 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2366C>T (p.Ala789Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000695054] |
Chr3:49532877 [GRCh38]
Chr3:49570310 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1705C>T (p.His569Tyr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000693133] |
Chr3:49532216 [GRCh38]
Chr3:49569649 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2588A>G (p.Tyr863Cys) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000694145] |
Chr3:49533099 [GRCh38]
Chr3:49570532 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 |
copy number gain |
not provided [RCV000742138] |
Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 |
copy number gain |
not provided [RCV000742133] |
Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| NM_001177643.2(DAG1):c.-332dup |
duplication |
not provided [RCV001612798] |
Chr3:49468836..49468837 [GRCh38]
Chr3:49506269..49506270 [GRCh37]
Chr3:3p21.31 |
benign |
| NM_004393.6(DAG1):c.175G>T (p.Glu59Ter) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001855933]|not provided [RCV000760900] |
Chr3:49510709 [GRCh38]
Chr3:49548142 [GRCh37]
Chr3:3p21.31 |
likely pathogenic|uncertain significance |
| NM_004393.6(DAG1):c.535T>A (p.Ser179Thr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001302557]|not provided [RCV000991873] |
Chr3:49531046 [GRCh38]
Chr3:49568479 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1111C>T (p.Arg371Trp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001068375]|not provided [RCV003145336] |
Chr3:49531622 [GRCh38]
Chr3:49569055 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.*294G>T |
single nucleotide variant |
not provided [RCV001544694] |
Chr3:49533493 [GRCh38]
Chr3:49570926 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.285+1G>A |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001045353] |
Chr3:49510820 [GRCh38]
Chr3:49548253 [GRCh37]
Chr3:3p21.31 |
pathogenic |
| NM_004393.6(DAG1):c.153C>G (p.His51Gln) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001992338] |
Chr3:49510687 [GRCh38]
Chr3:49548120 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1956G>C (p.Arg652=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002065748] |
Chr3:49532467 [GRCh38]
Chr3:49569900 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2190G>A (p.Glu730=) |
single nucleotide variant |
DAG1-related condition [RCV003953387]|not provided [RCV000982714] |
Chr3:49532701 [GRCh38]
Chr3:49570134 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1858T>C (p.Leu620=) |
single nucleotide variant |
not provided [RCV000907073] |
Chr3:49532369 [GRCh38]
Chr3:49569802 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.261T>C (p.Ile87=) |
single nucleotide variant |
not provided [RCV000936653] |
Chr3:49510795 [GRCh38]
Chr3:49548228 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2343C>G (p.Gly781=) |
single nucleotide variant |
not provided [RCV000936654] |
Chr3:49532854 [GRCh38]
Chr3:49570287 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1287A>G (p.Val429=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000876428] |
Chr3:49531798 [GRCh38]
Chr3:49569231 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2322C>T (p.Cys774=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000968858] |
Chr3:49532833 [GRCh38]
Chr3:49570266 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1278G>A (p.Lys426=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003769267] |
Chr3:49531789 [GRCh38]
Chr3:49569222 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.372T>C (p.Thr124=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003769268] |
Chr3:49530883 [GRCh38]
Chr3:49568316 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.229T>C (p.Ser77Pro) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001035173]|not specified [RCV003479268] |
Chr3:49510763 [GRCh38]
Chr3:49548196 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.286-4C>G |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001038985] |
Chr3:49530793 [GRCh38]
Chr3:49568226 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.910C>T (p.Pro304Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001053278]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 [RCV001198472] |
Chr3:49531421 [GRCh38]
Chr3:49568854 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1181G>A (p.Gly394Asp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001052592] |
Chr3:49531692 [GRCh38]
Chr3:49569125 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.349C>T (p.Leu117=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002064916] |
Chr3:49530860 [GRCh38]
Chr3:49568293 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.396A>C (p.Ser132=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001398900] |
Chr3:49530907 [GRCh38]
Chr3:49568340 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.888T>C (p.Gly296=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002066015] |
Chr3:49531399 [GRCh38]
Chr3:49568832 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1785C>T (p.Val595=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000877208]|not provided [RCV001289405] |
Chr3:49532296 [GRCh38]
Chr3:49569729 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1752C>A (p.Gly584=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000941902] |
Chr3:49532263 [GRCh38]
Chr3:49569696 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.636C>T (p.His212=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000983404] |
Chr3:49531147 [GRCh38]
Chr3:49568580 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.162C>G (p.Leu54=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002548292] |
Chr3:49510696 [GRCh38]
Chr3:49548129 [GRCh37]
Chr3:3p21.31 |
likely benign |
| GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) |
copy number gain |
not provided [RCV000767704] |
Chr3:45153770..53878616 [GRCh37]
Chr3:3p21.31-21.1 |
pathogenic |
| NM_004393.6(DAG1):c.2636G>T (p.Arg879Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003270740] |
Chr3:49533147 [GRCh38]
Chr3:49570580 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2635C>T (p.Arg879Cys) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000809891]|Inborn genetic diseases [RCV002537320] |
Chr3:49533146 [GRCh38]
Chr3:49570579 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.510C>A (p.Ala170=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001087172]|not provided [RCV000833235] |
Chr3:49531021 [GRCh38]
Chr3:49568454 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2342G>A (p.Gly781Asp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000807097] |
Chr3:49532853 [GRCh38]
Chr3:49570286 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1182C>T (p.Gly394=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000814345] |
Chr3:49531693 [GRCh38]
Chr3:49569126 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.2552C>T (p.Thr851Met) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000824629] |
Chr3:49533063 [GRCh38]
Chr3:49570496 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1839G>T (p.Val613=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001474209] |
Chr3:49532350 [GRCh38]
Chr3:49569783 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2001G>T (p.Glu667Asp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000818362] |
Chr3:49532512 [GRCh38]
Chr3:49569945 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1470C>T (p.Gly490=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001492673] |
Chr3:49531981 [GRCh38]
Chr3:49569414 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.286-333G>C |
single nucleotide variant |
not provided [RCV000833514] |
Chr3:49530464 [GRCh38]
Chr3:49567897 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2023G>A (p.Ala675Thr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000818668]|Inborn genetic diseases [RCV002535480] |
Chr3:49532534 [GRCh38]
Chr3:49569967 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2512G>A (p.Glu838Lys) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000813450] |
Chr3:49533023 [GRCh38]
Chr3:49570456 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2336G>A (p.Arg779Gln) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000817169] |
Chr3:49532847 [GRCh38]
Chr3:49570280 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.576G>A (p.Thr192=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000800878] |
Chr3:49531087 [GRCh38]
Chr3:49568520 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NC_000003.12:g.49510861T>C |
single nucleotide variant |
not provided [RCV000838912] |
Chr3:49548294 [GRCh37]
Chr3:3p21.31 |
benign |
| NC_000003.12:g.49530662G>A |
single nucleotide variant |
not provided [RCV000838914] |
Chr3:49568095 [GRCh37]
Chr3:3p21.31 |
benign |
| NM_004393.6(DAG1):c.2044G>A (p.Ala682Thr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000807801] |
Chr3:49532555 [GRCh38]
Chr3:49569988 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.854C>T (p.Ala285Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000801520]|Inborn genetic diseases [RCV003166209] |
Chr3:49531365 [GRCh38]
Chr3:49568798 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.751del (p.Val251fs) |
deletion |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000824026]|Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003333112] |
Chr3:49531261 [GRCh38]
Chr3:49568694 [GRCh37]
Chr3:3p21.31 |
likely pathogenic|uncertain significance |
| NM_004393.6(DAG1):c.2536A>C (p.Thr846Pro) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000798327] |
Chr3:49533047 [GRCh38]
Chr3:49570480 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1100C>T (p.Thr367Met) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000815098] |
Chr3:49531611 [GRCh38]
Chr3:49569044 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.235C>T (p.Arg79Ter) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000810927] |
Chr3:49510769 [GRCh38]
Chr3:49548202 [GRCh37]
Chr3:3p21.31 |
pathogenic |
| NM_004393.6(DAG1):c.2116A>G (p.Thr706Ala) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001043663] |
Chr3:49532627 [GRCh38]
Chr3:49570060 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.-116-291T>C |
single nucleotide variant |
not provided [RCV000826889] |
Chr3:49510128 [GRCh38]
Chr3:49547561 [GRCh37]
Chr3:3p21.31 |
benign |
| NM_004393.6(DAG1):c.928G>A (p.Val310Ile) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000824561] |
Chr3:49531439 [GRCh38]
Chr3:49568872 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1829C>T (p.Ala610Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000805469]|Inborn genetic diseases [RCV003166246]|not provided [RCV003144626] |
Chr3:49532340 [GRCh38]
Chr3:49569773 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.-24G>T |
single nucleotide variant |
not provided [RCV000826969] |
Chr3:49510511 [GRCh38]
Chr3:49547944 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1847C>T (p.Pro616Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000800631] |
Chr3:49532358 [GRCh38]
Chr3:49569791 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1369C>T (p.Arg457Trp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000804136] |
Chr3:49531880 [GRCh38]
Chr3:49569313 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1925G>A (p.Cys642Tyr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001067500]|not provided [RCV001289406] |
Chr3:49532436 [GRCh38]
Chr3:49569869 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NC_000003.12:g.(?_49530787)_(49533209_?)del |
deletion |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001032569] |
Chr3:49568220..49570642 [GRCh37]
Chr3:3p21.31 |
pathogenic |
| NM_004393.6(DAG1):c.815C>T (p.Pro272Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001202909] |
Chr3:49531326 [GRCh38]
Chr3:49568759 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1223C>T (p.Pro408Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001217415] |
Chr3:49531734 [GRCh38]
Chr3:49569167 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.967G>T (p.Ala323Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001246091] |
Chr3:49531478 [GRCh38]
Chr3:49568911 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1982_1983delinsTT (p.Asn661Ile) |
indel |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001210568] |
Chr3:49532493..49532494 [GRCh38]
Chr3:49569926..49569927 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1750_1751delinsT (p.Gly584fs) |
indel |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001246589] |
Chr3:49532261..49532262 [GRCh38]
Chr3:49569694..49569695 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2140C>T (p.Arg714Trp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001068632] |
Chr3:49532651 [GRCh38]
Chr3:49570084 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| GRCh38/hg38 3p21.31(chr3:49171381-49474635)x3 |
copy number gain |
See cases [RCV000143511] |
Chr3:49171381..49474635 [GRCh38]
Chr3:49208814..49512068 [GRCh37]
Chr3:49183818..49487072 [NCBI36]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1215G>A (p.Met405Ile) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000704466]|Inborn genetic diseases [RCV002530967]|not provided [RCV000593374] |
Chr3:49531726 [GRCh38]
Chr3:49569159 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1771_1796del (p.Phe591fs) |
deletion |
not provided [RCV000487266] |
Chr3:49532280..49532305 [GRCh38]
Chr3:49569713..49569738 [GRCh37]
Chr3:3p21.31 |
pathogenic |
| NM_004393.6(DAG1):c.539C>T (p.Ser180Phe) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001867924]|not provided [RCV000594790] |
Chr3:49531050 [GRCh38]
Chr3:49568483 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1492_1494del (p.Glu498del) |
deletion |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000648802] |
Chr3:49532003..49532005 [GRCh38]
Chr3:49569436..49569438 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1014C>T (p.Ile338=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001416615]|not provided [RCV000648804] |
Chr3:49531525 [GRCh38]
Chr3:49568958 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1026C>T (p.Pro342=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000648805] |
Chr3:49531537 [GRCh38]
Chr3:49568970 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.24G>A (p.Ser8=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000648807] |
Chr3:49510558 [GRCh38]
Chr3:49547991 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.591C>T (p.Ala197=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000648809] |
Chr3:49531102 [GRCh38]
Chr3:49568535 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.57C>T (p.Leu19=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000648810] |
Chr3:49510591 [GRCh38]
Chr3:49548024 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2174G>T (p.Arg725Met) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001208111] |
Chr3:49532685 [GRCh38]
Chr3:49570118 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2194C>A (p.Pro732Thr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002568701]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV001249844] |
Chr3:49532705 [GRCh38]
Chr3:49570138 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1370G>T (p.Arg457Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003106485] |
Chr3:49531881 [GRCh38]
Chr3:49569314 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.-117+6669A>G |
single nucleotide variant |
not provided [RCV001549395] |
Chr3:49477102 [GRCh38]
Chr3:49514535 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.-117+18178del |
deletion |
not provided [RCV001568648] |
Chr3:49488611 [GRCh38]
Chr3:49526044 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.286-49G>A |
single nucleotide variant |
not provided [RCV001534480] |
Chr3:49530748 [GRCh38]
Chr3:49568181 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2388G>A (p.Val796=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002065802] |
Chr3:49532899 [GRCh38]
Chr3:49570332 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2352C>T (p.Thr784=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003768856]|DAG1-related condition [RCV003942878] |
Chr3:49532863 [GRCh38]
Chr3:49570296 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2667T>A (p.Pro889=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001500496] |
Chr3:49533178 [GRCh38]
Chr3:49570611 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2370C>G (p.Thr790=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001406875]|DAG1-related condition [RCV003970760] |
Chr3:49532881 [GRCh38]
Chr3:49570314 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2451C>G (p.Leu817=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000939227] |
Chr3:49532962 [GRCh38]
Chr3:49570395 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.243C>G (p.Thr81=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV000877912]|not provided [RCV001567236] |
Chr3:49510777 [GRCh38]
Chr3:49548210 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.971T>A (p.Ile324Asn) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001070814]|Inborn genetic diseases [RCV002554609] |
Chr3:49531482 [GRCh38]
Chr3:49568915 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.691G>T (p.Val231Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001239796] |
Chr3:49531202 [GRCh38]
Chr3:49568635 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1088C>T (p.Pro363Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001216640] |
Chr3:49531599 [GRCh38]
Chr3:49569032 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NC_000003.12:g.(?_49121216)_(49533209_?)del |
deletion |
Pierson syndrome [RCV001384888] |
Chr3:49158649..49570642 [GRCh37]
Chr3:3p21.31 |
pathogenic |
| NM_001177643.3(DAG1):c.-117+1024T>G |
single nucleotide variant |
not provided [RCV001637481] |
Chr3:49470079 [GRCh38]
Chr3:49507512 [GRCh37]
Chr3:3p21.31 |
benign |
| NM_004393.6(DAG1):c.1015G>A (p.Val339Met) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002550632]|not provided [RCV000991872] |
Chr3:49531526 [GRCh38]
Chr3:49568959 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.568G>C (p.Val190Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002472142]|not provided [RCV003146575] |
Chr3:49531079 [GRCh38]
Chr3:49568512 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.-117+18092T>C |
single nucleotide variant |
not provided [RCV001596675] |
Chr3:49488525 [GRCh38]
Chr3:49525958 [GRCh37]
Chr3:3p21.31 |
benign |
| NM_004393.6(DAG1):c.-117+17230A>G |
single nucleotide variant |
not provided [RCV001717532] |
Chr3:49487663 [GRCh38]
Chr3:49525096 [GRCh37]
Chr3:3p21.31 |
benign |
| NM_004393.6(DAG1):c.-117+18096G>T |
single nucleotide variant |
not provided [RCV001717125] |
Chr3:49488529 [GRCh38]
Chr3:49525962 [GRCh37]
Chr3:3p21.31 |
benign |
| NM_004393.6(DAG1):c.-117+18178A>T |
single nucleotide variant |
not provided [RCV001658711] |
Chr3:49488611 [GRCh38]
Chr3:49526044 [GRCh37]
Chr3:3p21.31 |
benign |
| NM_004393.6(DAG1):c.556G>T (p.Glu186Ter) |
single nucleotide variant |
not provided [RCV001008676] |
Chr3:49531067 [GRCh38]
Chr3:49568500 [GRCh37]
Chr3:3p21.31 |
likely pathogenic |
| NM_001177643.2(DAG1):c.-320dup |
duplication |
not provided [RCV001684087] |
Chr3:49468840..49468841 [GRCh38]
Chr3:49506273..49506274 [GRCh37]
Chr3:3p21.31 |
benign |
| NM_001177643.2(DAG1):c.-306C>T |
single nucleotide variant |
not provided [RCV001611400] |
Chr3:49468866 [GRCh38]
Chr3:49506299 [GRCh37]
Chr3:3p21.31 |
benign |
| NM_004393.6(DAG1):c.2600C>T (p.Pro867Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001036004] |
Chr3:49533111 [GRCh38]
Chr3:49570544 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.-117+18434C>T |
single nucleotide variant |
not provided [RCV001650376] |
Chr3:49488867 [GRCh38]
Chr3:49526300 [GRCh37]
Chr3:3p21.31 |
benign |
| NM_004393.6(DAG1):c.1166G>A (p.Arg389Gln) |
single nucleotide variant |
not provided [RCV001663468] |
Chr3:49531677 [GRCh38]
Chr3:49569110 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.885G>A (p.Val295=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001067796] |
Chr3:49531396 [GRCh38]
Chr3:49568829 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.1471G>A (p.Gly491Arg) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001217575] |
Chr3:49531982 [GRCh38]
Chr3:49569415 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.552G>A (p.Ala184=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001053237] |
Chr3:49531063 [GRCh38]
Chr3:49568496 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1556C>T (p.Pro519Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001220098]|Inborn genetic diseases [RCV002562495] |
Chr3:49532067 [GRCh38]
Chr3:49569500 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.551C>T (p.Ala184Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001204024] |
Chr3:49531062 [GRCh38]
Chr3:49568495 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2314A>G (p.Met772Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001236328] |
Chr3:49532825 [GRCh38]
Chr3:49570258 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.126G>C (p.Trp42Cys) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001216602] |
Chr3:49510660 [GRCh38]
Chr3:49548093 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1075A>G (p.Arg359Gly) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001228793] |
Chr3:49531586 [GRCh38]
Chr3:49569019 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.227G>A (p.Arg76His) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001055613] |
Chr3:49510761 [GRCh38]
Chr3:49548194 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1 |
copy number loss |
not provided [RCV001005432] |
Chr3:48346677..49630228 [GRCh37]
Chr3:3p21.31 |
pathogenic |
| NM_004393.6(DAG1):c.42G>C (p.Ser14=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001246461] |
Chr3:49510576 [GRCh38]
Chr3:49548009 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.835G>T (p.Ala279Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001213260]|Inborn genetic diseases [RCV002561807]|not provided [RCV003145393] |
Chr3:49531346 [GRCh38]
Chr3:49568779 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.442A>T (p.Thr148Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001037701] |
Chr3:49530953 [GRCh38]
Chr3:49568386 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.643C>T (p.Arg215Trp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001042731]|not provided [RCV003145275] |
Chr3:49531154 [GRCh38]
Chr3:49568587 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.330G>A (p.Trp110Ter) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001232180] |
Chr3:49530841 [GRCh38]
Chr3:49568274 [GRCh37]
Chr3:3p21.31 |
pathogenic |
| NM_004393.6(DAG1):c.920C>G (p.Pro307Arg) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001063802]|not provided [RCV003314666] |
Chr3:49531431 [GRCh38]
Chr3:49568864 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_001177643.3(DAG1):c.-117+1G>T |
single nucleotide variant |
Intellectual disability [RCV001263401] |
Chr3:49469056 [GRCh38]
Chr3:49506489 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.644G>A (p.Arg215Gln) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001308960]|not provided [RCV003145546] |
Chr3:49531155 [GRCh38]
Chr3:49568588 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.473C>G (p.Pro158Arg) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001296005] |
Chr3:49530984 [GRCh38]
Chr3:49568417 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.481C>G (p.His161Asp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001351296] |
Chr3:49530992 [GRCh38]
Chr3:49568425 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1321T>C (p.Ser441Pro) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001349656] |
Chr3:49531832 [GRCh38]
Chr3:49569265 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1300C>T (p.Pro434Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001349670] |
Chr3:49531811 [GRCh38]
Chr3:49569244 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.815C>G (p.Pro272Arg) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001306649] |
Chr3:49531326 [GRCh38]
Chr3:49568759 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1106C>G (p.Thr369Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001297522] |
Chr3:49531617 [GRCh38]
Chr3:49569050 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1955G>T (p.Arg652Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001358888]|not provided [RCV001289407] |
Chr3:49532466 [GRCh38]
Chr3:49569899 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.210C>T (p.Gly70=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001369424] |
Chr3:49510744 [GRCh38]
Chr3:49548177 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1445C>T (p.Thr482Ile) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001368486] |
Chr3:49531956 [GRCh38]
Chr3:49569389 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.781A>G (p.Lys261Glu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001358916] |
Chr3:49531292 [GRCh38]
Chr3:49568725 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NC_000003.11:g.(?_48507870)_(50340407_?)del |
deletion |
Aicardi-Goutieres syndrome 1 [RCV001380369] |
Chr3:48507870..50340407 [GRCh37]
Chr3:3p21.31 |
pathogenic |
| NM_004393.6(DAG1):c.1236G>T (p.Glu412Asp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001321493] |
Chr3:49531747 [GRCh38]
Chr3:49569180 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1101G>A (p.Thr367=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001364627] |
Chr3:49531612 [GRCh38]
Chr3:49569045 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.939del (p.Ile314fs) |
deletion |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001364726] |
Chr3:49531450 [GRCh38]
Chr3:49568883 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.497C>T (p.Ser166Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001321551] |
Chr3:49531008 [GRCh38]
Chr3:49568441 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2215_2216del (p.Arg739fs) |
deletion |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001362845]|not provided [RCV003238361] |
Chr3:49532726..49532727 [GRCh38]
Chr3:49570159..49570160 [GRCh37]
Chr3:3p21.31 |
likely pathogenic|uncertain significance |
| NM_004393.6(DAG1):c.1751G>T (p.Gly584Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001312682] |
Chr3:49532262 [GRCh38]
Chr3:49569695 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2293C>A (p.Leu765Ile) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001346881] |
Chr3:49532804 [GRCh38]
Chr3:49570237 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2392A>G (p.Ile798Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001347088] |
Chr3:49532903 [GRCh38]
Chr3:49570336 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.123C>G (p.Asp41Glu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001347276] |
Chr3:49510657 [GRCh38]
Chr3:49548090 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1441C>T (p.Arg481Cys) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001302386] |
Chr3:49531952 [GRCh38]
Chr3:49569385 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1462C>G (p.Pro488Ala) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001373027] |
Chr3:49531973 [GRCh38]
Chr3:49569406 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2546A>T (p.Glu849Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001370895] |
Chr3:49533057 [GRCh38]
Chr3:49570490 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1892A>G (p.Lys631Arg) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001325109]|Inborn genetic diseases [RCV002546125] |
Chr3:49532403 [GRCh38]
Chr3:49569836 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.659T>C (p.Val220Ala) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001362345]|not provided [RCV003145615] |
Chr3:49531170 [GRCh38]
Chr3:49568603 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1476A>C (p.Glu492Asp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001346283] |
Chr3:49531987 [GRCh38]
Chr3:49569420 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1453_1454insC (p.Ser485fs) |
insertion |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001364580] |
Chr3:49531964..49531965 [GRCh38]
Chr3:49569397..49569398 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1005del (p.Ser336fs) |
deletion |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001359877] |
Chr3:49531516 [GRCh38]
Chr3:49568949 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.751dup (p.Val251fs) |
duplication |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001296160] |
Chr3:49531260..49531261 [GRCh38]
Chr3:49568693..49568694 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1360del (p.Arg454fs) |
deletion |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001300185] |
Chr3:49531871 [GRCh38]
Chr3:49569304 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1251T>C (p.Ala417=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001394790]|not specified [RCV001820091] |
Chr3:49531762 [GRCh38]
Chr3:49569195 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.1656A>G (p.Val552=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001494770] |
Chr3:49532167 [GRCh38]
Chr3:49569600 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NC_000003.11:g.(?_49568220)_(49570642_?)dup |
duplication |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001351674] |
Chr3:49568220..49570642 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.687G>A (p.Pro229=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001469377] |
Chr3:49531198 [GRCh38]
Chr3:49568631 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2661G>T (p.Arg887=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001469510] |
Chr3:49533172 [GRCh38]
Chr3:49570605 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.423C>T (p.Asn141=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001475123] |
Chr3:49530934 [GRCh38]
Chr3:49568367 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.852C>T (p.Gly284=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001502783] |
Chr3:49531363 [GRCh38]
Chr3:49568796 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.471C>T (p.Tyr157=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001485228] |
Chr3:49530982 [GRCh38]
Chr3:49568415 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.45G>A (p.Gly15=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001443961] |
Chr3:49510579 [GRCh38]
Chr3:49548012 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2556C>A (p.Pro852=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001446551]|DAG1-related condition [RCV003938793] |
Chr3:49533067 [GRCh38]
Chr3:49570500 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.15G>A (p.Val5=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002071899]|not provided [RCV001531396] |
Chr3:49510549 [GRCh38]
Chr3:49547982 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.108A>C (p.Ser36=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001410898] |
Chr3:49510642 [GRCh38]
Chr3:49548075 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.-117+16912G>C |
single nucleotide variant |
not provided [RCV001536353] |
Chr3:49487345 [GRCh38]
Chr3:49524778 [GRCh37]
Chr3:3p21.31 |
benign |
| NM_004393.6(DAG1):c.1452C>A (p.Thr484=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001474030] |
Chr3:49531963 [GRCh38]
Chr3:49569396 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1356A>G (p.Lys452=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001476418] |
Chr3:49531867 [GRCh38]
Chr3:49569300 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.333C>T (p.Asp111=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001486752] |
Chr3:49530844 [GRCh38]
Chr3:49568277 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1074C>A (p.Val358=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001461032] |
Chr3:49531585 [GRCh38]
Chr3:49569018 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.21C>G (p.Leu7=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001489142] |
Chr3:49510555 [GRCh38]
Chr3:49547988 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1962C>T (p.Ser654=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001419519] |
Chr3:49532473 [GRCh38]
Chr3:49569906 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1937C>T (p.Thr646Ile) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001992095] |
Chr3:49532448 [GRCh38]
Chr3:49569881 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.459C>T (p.Ser153=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001419974] |
Chr3:49530970 [GRCh38]
Chr3:49568403 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.41C>A (p.Ser14Ter) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001386974] |
Chr3:49510575 [GRCh38]
Chr3:49548008 [GRCh37]
Chr3:3p21.31 |
pathogenic |
| NM_004393.6(DAG1):c.483C>T (p.His161=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001461731] |
Chr3:49530994 [GRCh38]
Chr3:49568427 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2481C>G (p.Pro827=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001480702] |
Chr3:49532992 [GRCh38]
Chr3:49570425 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1557G>A (p.Pro519=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001483800] |
Chr3:49532068 [GRCh38]
Chr3:49569501 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.59T>A (p.Leu20His) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003108448] |
Chr3:49510593 [GRCh38]
Chr3:49548026 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.839del (p.Pro280fs) |
deletion |
Elevated circulating creatine kinase concentration [RCV002254532] |
Chr3:49531347 [GRCh38]
Chr3:49568780 [GRCh37]
Chr3:3p21.31 |
likely pathogenic |
| NM_004393.6(DAG1):c.2629G>A (p.Gly877Ser) |
single nucleotide variant |
not provided [RCV001757059] |
Chr3:49533140 [GRCh38]
Chr3:49570573 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.268A>C (p.Ser90Arg) |
single nucleotide variant |
not provided [RCV001765361] |
Chr3:49510802 [GRCh38]
Chr3:49548235 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1838_1839del (p.Val613fs) |
microsatellite |
not provided [RCV003238593] |
Chr3:49532347..49532348 [GRCh38]
Chr3:49569780..49569781 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.440A>G (p.Gln147Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002542478]|not provided [RCV001816355] |
Chr3:49530951 [GRCh38]
Chr3:49568384 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2018A>C (p.Gln673Pro) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001993020]|Inborn genetic diseases [RCV002563608] |
Chr3:49532529 [GRCh38]
Chr3:49569962 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2307C>G (p.Ile769Met) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001999560]|Inborn genetic diseases [RCV002545453] |
Chr3:49532818 [GRCh38]
Chr3:49570251 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.740A>G (p.Asn247Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002043503] |
Chr3:49531251 [GRCh38]
Chr3:49568684 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1915G>C (p.Asp639His) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002044019] |
Chr3:49532426 [GRCh38]
Chr3:49569859 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1715A>C (p.Lys572Thr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001878172]|Inborn genetic diseases [RCV002545854]|not provided [RCV003146266] |
Chr3:49532226 [GRCh38]
Chr3:49569659 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1323CAC[3] (p.Thr446del) |
microsatellite |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001878161] |
Chr3:49531833..49531835 [GRCh38]
Chr3:49569266..49569268 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2201C>G (p.Thr734Arg) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001866669] |
Chr3:49532712 [GRCh38]
Chr3:49570145 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1793G>A (p.Arg598His) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001863333]|not provided [RCV003146261] |
Chr3:49532304 [GRCh38]
Chr3:49569737 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2579C>T (p.Ala860Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002021333] |
Chr3:49533090 [GRCh38]
Chr3:49570523 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.317C>T (p.Ser106Phe) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002029798] |
Chr3:49530828 [GRCh38]
Chr3:49568261 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1081C>T (p.Pro361Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002032142] |
Chr3:49531592 [GRCh38]
Chr3:49569025 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.608C>T (p.Thr203Ile) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002008968] |
Chr3:49531119 [GRCh38]
Chr3:49568552 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1569C>G (p.Phe523Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002014047] |
Chr3:49532080 [GRCh38]
Chr3:49569513 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2675A>G (p.Tyr892Cys) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002023208] |
Chr3:49533186 [GRCh38]
Chr3:49570619 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1466G>A (p.Arg489His) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002027264]|not provided [RCV003146492] |
Chr3:49531977 [GRCh38]
Chr3:49569410 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1358C>T (p.Pro453Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001997377] |
Chr3:49531869 [GRCh38]
Chr3:49569302 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2026G>C (p.Gly676Arg) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002003118]|not provided [RCV003146447] |
Chr3:49532537 [GRCh38]
Chr3:49569970 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1193C>G (p.Pro398Arg) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001991203] |
Chr3:49531704 [GRCh38]
Chr3:49569137 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1813C>G (p.Pro605Ala) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002009315] |
Chr3:49532324 [GRCh38]
Chr3:49569757 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.409C>T (p.Arg137Trp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002017652] |
Chr3:49530920 [GRCh38]
Chr3:49568353 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2327G>A (p.Arg776His) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002012261] |
Chr3:49532838 [GRCh38]
Chr3:49570271 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1379C>T (p.Pro460Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002014112] |
Chr3:49531890 [GRCh38]
Chr3:49569323 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2240A>T (p.Asp747Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002027331] |
Chr3:49532751 [GRCh38]
Chr3:49570184 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| GRCh37/hg19 3p21.31(chr3:49060512-49678685) |
copy number gain |
not specified [RCV002053349] |
Chr3:49060512..49678685 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NC_000003.11:g.(?_49547968)_(50685477_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001970206] |
Chr3:49547968..50685477 [GRCh37]
Chr3:3p21.31-21.2 |
pathogenic |
| NM_004393.6(DAG1):c.43G>T (p.Gly15Trp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002013374] |
Chr3:49510577 [GRCh38]
Chr3:49548010 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1688G>A (p.Gly563Asp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002025876] |
Chr3:49532199 [GRCh38]
Chr3:49569632 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1621C>T (p.Arg541Trp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002027790] |
Chr3:49532132 [GRCh38]
Chr3:49569565 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1969G>C (p.Val657Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002033153] |
Chr3:49532480 [GRCh38]
Chr3:49569913 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2051A>G (p.Asp684Gly) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002001484] |
Chr3:49532562 [GRCh38]
Chr3:49569995 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1465del (p.Arg489fs) |
deletion |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002011323] |
Chr3:49531973 [GRCh38]
Chr3:49569406 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2294T>C (p.Leu765Pro) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002031065] |
Chr3:49532805 [GRCh38]
Chr3:49570238 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.734C>T (p.Pro245Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001982789] |
Chr3:49531245 [GRCh38]
Chr3:49568678 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1150C>T (p.Pro384Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001898102] |
Chr3:49531661 [GRCh38]
Chr3:49569094 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2555C>T (p.Pro852Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001929867] |
Chr3:49533066 [GRCh38]
Chr3:49570499 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1255C>T (p.Pro419Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001904972] |
Chr3:49531766 [GRCh38]
Chr3:49569199 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2648T>C (p.Met883Thr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001933098] |
Chr3:49533159 [GRCh38]
Chr3:49570592 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.49A>G (p.Thr17Ala) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001950332] |
Chr3:49510583 [GRCh38]
Chr3:49548016 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2645A>G (p.Asn882Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001893640] |
Chr3:49533156 [GRCh38]
Chr3:49570589 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.524G>A (p.Gly175Asp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001948876] |
Chr3:49531035 [GRCh38]
Chr3:49568468 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.820A>G (p.Ile274Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001950687] |
Chr3:49531331 [GRCh38]
Chr3:49568764 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.909G>C (p.Lys303Asn) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001951657] |
Chr3:49531420 [GRCh38]
Chr3:49568853 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1067C>T (p.Pro356Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001929818] |
Chr3:49531578 [GRCh38]
Chr3:49569011 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.403G>A (p.Ala135Thr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001930851]|Inborn genetic diseases [RCV002557780] |
Chr3:49530914 [GRCh38]
Chr3:49568347 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2068C>T (p.Pro690Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001931569] |
Chr3:49532579 [GRCh38]
Chr3:49570012 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.954_959del (p.317TP[1]) |
deletion |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001932357] |
Chr3:49531460..49531465 [GRCh38]
Chr3:49568893..49568898 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2116A>C (p.Thr706Pro) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001911174] |
Chr3:49532627 [GRCh38]
Chr3:49570060 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.658G>C (p.Val220Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001971169] |
Chr3:49531169 [GRCh38]
Chr3:49568602 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.853G>A (p.Ala285Thr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001915050] |
Chr3:49531364 [GRCh38]
Chr3:49568797 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1747G>A (p.Gly583Arg) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001945714] |
Chr3:49532258 [GRCh38]
Chr3:49569691 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.173A>T (p.His58Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001888702] |
Chr3:49510707 [GRCh38]
Chr3:49548140 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2330A>G (p.Lys777Arg) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001889425] |
Chr3:49532841 [GRCh38]
Chr3:49570274 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NC_000003.11:g.(?_49547968)_(49548272_?)dup |
duplication |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001918764] |
Chr3:49547968..49548272 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2267C>T (p.Pro756Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001947883] |
Chr3:49532778 [GRCh38]
Chr3:49570211 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1399T>C (p.Ser467Pro) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001977630] |
Chr3:49531910 [GRCh38]
Chr3:49569343 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1911del (p.Phe637fs) |
deletion |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001978385] |
Chr3:49532420 [GRCh38]
Chr3:49569853 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2482C>A (p.Pro828Thr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001893578]|not provided [RCV003146321] |
Chr3:49532993 [GRCh38]
Chr3:49570426 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.55C>T (p.Leu19Phe) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001951903] |
Chr3:49510589 [GRCh38]
Chr3:49548022 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.175G>A (p.Glu59Lys) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001952644] |
Chr3:49510709 [GRCh38]
Chr3:49548142 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NC_000003.11:g.(?_49547968)_(49548272_?)del |
deletion |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001978809] |
Chr3:49547968..49548272 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1918C>G (p.Arg640Gly) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001907204] |
Chr3:49532429 [GRCh38]
Chr3:49569862 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.271G>A (p.Gly91Arg) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001939231] |
Chr3:49510805 [GRCh38]
Chr3:49548238 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2660G>A (p.Arg887Gln) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001910790] |
Chr3:49533171 [GRCh38]
Chr3:49570604 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1919G>A (p.Arg640Gln) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001970959] |
Chr3:49532430 [GRCh38]
Chr3:49569863 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1756T>C (p.Ser586Pro) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001940543]|not provided [RCV003490945] |
Chr3:49532267 [GRCh38]
Chr3:49569700 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2038C>T (p.Arg680Trp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001941476] |
Chr3:49532549 [GRCh38]
Chr3:49569982 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1800A>T (p.Gln600His) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001973579] |
Chr3:49532311 [GRCh38]
Chr3:49569744 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1382G>A (p.Arg461Gln) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001917469] |
Chr3:49531893 [GRCh38]
Chr3:49569326 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.587A>T (p.Asp196Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001975306] |
Chr3:49531098 [GRCh38]
Chr3:49568531 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.80C>G (p.Ala27Gly) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001976102] |
Chr3:49510614 [GRCh38]
Chr3:49548047 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.727G>A (p.Ala243Thr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001950151] |
Chr3:49531238 [GRCh38]
Chr3:49568671 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1514G>A (p.Arg505Lys) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001950357] |
Chr3:49532025 [GRCh38]
Chr3:49569458 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1955G>A (p.Arg652Gln) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001915075] |
Chr3:49532466 [GRCh38]
Chr3:49569899 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.838C>T (p.Pro280Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001902423]|not provided [RCV003482379] |
Chr3:49531349 [GRCh38]
Chr3:49568782 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2011A>T (p.Lys671Ter) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001907692] |
Chr3:49532522 [GRCh38]
Chr3:49569955 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1315A>G (p.Thr439Ala) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001945203] |
Chr3:49531826 [GRCh38]
Chr3:49569259 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1846C>T (p.Pro616Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001966015] |
Chr3:49532357 [GRCh38]
Chr3:49569790 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.293C>T (p.Ala98Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001943116] |
Chr3:49530804 [GRCh38]
Chr3:49568237 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2315dup (p.Met772fs) |
duplication |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001886642] |
Chr3:49532825..49532826 [GRCh38]
Chr3:49570258..49570259 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.838C>A (p.Pro280Thr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001884533] |
Chr3:49531349 [GRCh38]
Chr3:49568782 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1532G>A (p.Gly511Asp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001928382] |
Chr3:49532043 [GRCh38]
Chr3:49569476 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2200A>C (p.Thr734Pro) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001968644] |
Chr3:49532711 [GRCh38]
Chr3:49570144 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2632T>C (p.Ser878Pro) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001986693] |
Chr3:49533143 [GRCh38]
Chr3:49570576 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1130T>C (p.Ile377Thr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001888695] |
Chr3:49531641 [GRCh38]
Chr3:49569074 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1804G>A (p.Asp602Asn) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001911166] |
Chr3:49532315 [GRCh38]
Chr3:49569748 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.786G>A (p.Leu262=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001989173] |
Chr3:49531297 [GRCh38]
Chr3:49568730 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_004393.6(DAG1):c.181G>A (p.Val61Ile) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001892989] |
Chr3:49510715 [GRCh38]
Chr3:49548148 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2195C>T (p.Pro732Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV001917062] |
Chr3:49532706 [GRCh38]
Chr3:49570139 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1230T>C (p.Tyr410=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002114853]|not provided [RCV003886566] |
Chr3:49531741 [GRCh38]
Chr3:49569174 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1323C>T (p.Ser441=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002081755] |
Chr3:49531834 [GRCh38]
Chr3:49569267 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.855A>G (p.Ala285=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002202332] |
Chr3:49531366 [GRCh38]
Chr3:49568799 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1320C>T (p.Asp440=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002215913] |
Chr3:49531831 [GRCh38]
Chr3:49569264 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.607A>T (p.Thr203Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002186574] |
Chr3:49531118 [GRCh38]
Chr3:49568551 [GRCh37]
Chr3:3p21.31 |
benign |
| NM_004393.6(DAG1):c.414G>T (p.Leu138=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002201609] |
Chr3:49530925 [GRCh38]
Chr3:49568358 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.174C>T (p.His58=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002166231]|DAG1-related condition [RCV003896008] |
Chr3:49510708 [GRCh38]
Chr3:49548141 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1218C>A (p.Thr406=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002215823] |
Chr3:49531729 [GRCh38]
Chr3:49569162 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1992G>A (p.Leu664=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002179083] |
Chr3:49532503 [GRCh38]
Chr3:49569936 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1236G>A (p.Glu412=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002216812] |
Chr3:49531747 [GRCh38]
Chr3:49569180 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.63G>T (p.Leu21=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002090904] |
Chr3:49510597 [GRCh38]
Chr3:49548030 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.999G>A (p.Glu333=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002093818] |
Chr3:49531510 [GRCh38]
Chr3:49568943 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1812T>A (p.Ala604=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002118586] |
Chr3:49532323 [GRCh38]
Chr3:49569756 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.624T>C (p.Ile208=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002154596] |
Chr3:49531135 [GRCh38]
Chr3:49568568 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.286-9C>T |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002107451] |
Chr3:49530788 [GRCh38]
Chr3:49568221 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2193G>A (p.Ala731=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002193976] |
Chr3:49532704 [GRCh38]
Chr3:49570137 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2493C>T (p.Tyr831=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002201450] |
Chr3:49533004 [GRCh38]
Chr3:49570437 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.286-17G>T |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002095314] |
Chr3:49530780 [GRCh38]
Chr3:49568213 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.645G>A (p.Arg215=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002169982] |
Chr3:49531156 [GRCh38]
Chr3:49568589 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2022C>T (p.Ile674=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002195971] |
Chr3:49532533 [GRCh38]
Chr3:49569966 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.264C>T (p.Ala88=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002196014] |
Chr3:49510798 [GRCh38]
Chr3:49548231 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2382G>A (p.Lys794=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002085135] |
Chr3:49532893 [GRCh38]
Chr3:49570326 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.39C>T (p.Leu13=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002085613] |
Chr3:49510573 [GRCh38]
Chr3:49548006 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.971T>C (p.Ile324Thr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003111891] |
Chr3:49531482 [GRCh38]
Chr3:49568915 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2480C>G (p.Pro827Arg) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003118501] |
Chr3:49532991 [GRCh38]
Chr3:49570424 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1745A>G (p.Lys582Arg) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003121316] |
Chr3:49532256 [GRCh38]
Chr3:49569689 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1918C>T (p.Arg640Ter) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003121506] |
Chr3:49532429 [GRCh38]
Chr3:49569862 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.32T>C (p.Leu11Pro) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003118857] |
Chr3:49510566 [GRCh38]
Chr3:49547999 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1817C>T (p.Ala606Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003121109] |
Chr3:49532328 [GRCh38]
Chr3:49569761 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2503_2504del (p.Ser835fs) |
microsatellite |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 [RCV002273259] |
Chr3:49533012..49533013 [GRCh38]
Chr3:49570445..49570446 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.721_722del (p.Phe241fs) |
deletion |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002288356] |
Chr3:49531232..49531233 [GRCh38]
Chr3:49568665..49568666 [GRCh37]
Chr3:3p21.31 |
likely pathogenic |
| NM_004393.6(DAG1):c.1729A>G (p.Met577Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002569396]|not provided [RCV002474300] |
Chr3:49532240 [GRCh38]
Chr3:49569673 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2161G>A (p.Val721Met) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002616117] |
Chr3:49532672 [GRCh38]
Chr3:49570105 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.286-1_287del |
deletion |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002972439] |
Chr3:49530796..49530798 [GRCh38]
Chr3:49568229..49568231 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.643C>G (p.Arg215Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002879877] |
Chr3:49531154 [GRCh38]
Chr3:49568587 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.845G>T (p.Arg282Met) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003032526] |
Chr3:49531356 [GRCh38]
Chr3:49568789 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1610C>T (p.Thr537Ile) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002618410] |
Chr3:49532121 [GRCh38]
Chr3:49569554 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2478A>G (p.Leu826=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002686412] |
Chr3:49532989 [GRCh38]
Chr3:49570422 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1690C>T (p.Leu564Phe) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003074621] |
Chr3:49532201 [GRCh38]
Chr3:49569634 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.827G>T (p.Gly276Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002775102] |
Chr3:49531338 [GRCh38]
Chr3:49568771 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2072C>T (p.Ala691Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002815614] |
Chr3:49532583 [GRCh38]
Chr3:49570016 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2124_2127del (p.Gly709fs) |
deletion |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002862204] |
Chr3:49532634..49532637 [GRCh38]
Chr3:49570067..49570070 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1618C>G (p.Leu540Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003095575] |
Chr3:49532129 [GRCh38]
Chr3:49569562 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1410A>T (p.Arg470Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002861702] |
Chr3:49531921 [GRCh38]
Chr3:49569354 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.914C>T (p.Pro305Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002842931] |
Chr3:49531425 [GRCh38]
Chr3:49568858 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.843C>G (p.Ala281=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002617577] |
Chr3:49531354 [GRCh38]
Chr3:49568787 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.889T>A (p.Trp297Arg) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003054478] |
Chr3:49531400 [GRCh38]
Chr3:49568833 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1423_1424insTT (p.Ser475fs) |
insertion |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002825040] |
Chr3:49531933..49531934 [GRCh38]
Chr3:49569366..49569367 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2268G>A (p.Pro756=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002953323] |
Chr3:49532779 [GRCh38]
Chr3:49570212 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.462C>G (p.Ile154Met) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002639669] |
Chr3:49530973 [GRCh38]
Chr3:49568406 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.524G>T (p.Gly175Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002695401] |
Chr3:49531035 [GRCh38]
Chr3:49568468 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.966T>G (p.Thr322=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002885655] |
Chr3:49531477 [GRCh38]
Chr3:49568910 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1981A>G (p.Asn661Asp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003018107] |
Chr3:49532492 [GRCh38]
Chr3:49569925 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1326C>T (p.Thr442=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003053338] |
Chr3:49531837 [GRCh38]
Chr3:49569270 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1681A>G (p.Met561Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003100561] |
Chr3:49532192 [GRCh38]
Chr3:49569625 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.14T>G (p.Val5Gly) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002821030] |
Chr3:49510548 [GRCh38]
Chr3:49547981 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2081A>G (p.Asn694Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002592064] |
Chr3:49532592 [GRCh38]
Chr3:49570025 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2206G>A (p.Val736Met) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003055275] |
Chr3:49532717 [GRCh38]
Chr3:49570150 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2170C>T (p.Pro724Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002867378] |
Chr3:49532681 [GRCh38]
Chr3:49570114 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.716C>T (p.Ser239Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002619322] |
Chr3:49531227 [GRCh38]
Chr3:49568660 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1479C>T (p.Pro493=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002847130] |
Chr3:49531990 [GRCh38]
Chr3:49569423 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1028C>T (p.Thr343Ile) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003001835] |
Chr3:49531539 [GRCh38]
Chr3:49568972 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1226G>T (p.Gly409Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002795853] |
Chr3:49531737 [GRCh38]
Chr3:49569170 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1329C>T (p.Thr443=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002701254] |
Chr3:49531840 [GRCh38]
Chr3:49569273 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2164G>A (p.Val722Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002830908] |
Chr3:49532675 [GRCh38]
Chr3:49570108 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2155A>G (p.Ile719Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003085576] |
Chr3:49532666 [GRCh38]
Chr3:49570099 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2200A>G (p.Thr734Ala) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002643276] |
Chr3:49532711 [GRCh38]
Chr3:49570144 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1842T>A (p.Gly614=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002710173] |
Chr3:49532353 [GRCh38]
Chr3:49569786 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2439C>T (p.Ser813=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002624390] |
Chr3:49532950 [GRCh38]
Chr3:49570383 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2295C>T (p.Leu765=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002595408] |
Chr3:49532806 [GRCh38]
Chr3:49570239 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1040T>C (p.Ile347Thr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002700127] |
Chr3:49531551 [GRCh38]
Chr3:49568984 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1317T>C (p.Thr439=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003005614] |
Chr3:49531828 [GRCh38]
Chr3:49569261 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1882G>T (p.Ala628Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002890396] |
Chr3:49532393 [GRCh38]
Chr3:49569826 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2503A>T (p.Ser835Cys) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002573898] |
Chr3:49533014 [GRCh38]
Chr3:49570447 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1833G>A (p.Lys611=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002800957] |
Chr3:49532344 [GRCh38]
Chr3:49569777 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.237A>G (p.Arg79=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003025010] |
Chr3:49510771 [GRCh38]
Chr3:49548204 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.843C>T (p.Ala281=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002958526] |
Chr3:49531354 [GRCh38]
Chr3:49568787 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.686C>T (p.Pro229Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002790465] |
Chr3:49531197 [GRCh38]
Chr3:49568630 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2018A>G (p.Gln673Arg) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002954060] |
Chr3:49532529 [GRCh38]
Chr3:49569962 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1783G>A (p.Val595Ile) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003083795] |
Chr3:49532294 [GRCh38]
Chr3:49569727 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.5G>C (p.Arg2Thr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003042919] |
Chr3:49510539 [GRCh38]
Chr3:49547972 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.286-4del |
deletion |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002918612] |
Chr3:49530793 [GRCh38]
Chr3:49568226 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.942C>T (p.Ile314=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003057706] |
Chr3:49531453 [GRCh38]
Chr3:49568886 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1508T>C (p.Ile503Thr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002572632]|not provided [RCV003146581] |
Chr3:49532019 [GRCh38]
Chr3:49569452 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1389C>T (p.Thr463=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003084425] |
Chr3:49531900 [GRCh38]
Chr3:49569333 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.944A>G (p.His315Arg) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002650424] |
Chr3:49531455 [GRCh38]
Chr3:49568888 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1815T>C (p.Pro605=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002938426] |
Chr3:49532326 [GRCh38]
Chr3:49569759 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1569C>T (p.Phe523=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003029801] |
Chr3:49532080 [GRCh38]
Chr3:49569513 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2221C>T (p.Pro741Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002602888] |
Chr3:49532732 [GRCh38]
Chr3:49570165 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1007C>T (p.Ser336Phe) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002647434] |
Chr3:49531518 [GRCh38]
Chr3:49568951 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.984C>A (p.Thr328=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003060963] |
Chr3:49531495 [GRCh38]
Chr3:49568928 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1331C>T (p.Thr444Ile) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002922998]|not provided [RCV003146683] |
Chr3:49531842 [GRCh38]
Chr3:49569275 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2207T>G (p.Val736Gly) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002898935] |
Chr3:49532718 [GRCh38]
Chr3:49570151 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1402A>G (p.Ile468Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003028622] |
Chr3:49531913 [GRCh38]
Chr3:49569346 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1185C>T (p.Thr395=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003011484] |
Chr3:49531696 [GRCh38]
Chr3:49569129 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1673G>T (p.Ser558Ile) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002720226] |
Chr3:49532184 [GRCh38]
Chr3:49569617 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2612C>T (p.Ala871Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002579185] |
Chr3:49533123 [GRCh38]
Chr3:49570556 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1837G>T (p.Val613Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002632106] |
Chr3:49532348 [GRCh38]
Chr3:49569781 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1324A>T (p.Thr442Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002579934] |
Chr3:49531835 [GRCh38]
Chr3:49569268 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1032T>A (p.Ser344=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002963305] |
Chr3:49531543 [GRCh38]
Chr3:49568976 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.479_482dup (p.His161fs) |
duplication |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002857147] |
Chr3:49530989..49530990 [GRCh38]
Chr3:49568422..49568423 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1895A>C (p.Lys632Thr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003030029] |
Chr3:49532406 [GRCh38]
Chr3:49569839 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2205A>C (p.Glu735Asp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002715039] |
Chr3:49532716 [GRCh38]
Chr3:49570149 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2170C>A (p.Pro724Thr) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002629934] |
Chr3:49532681 [GRCh38]
Chr3:49570114 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1211C>T (p.Thr404Met) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002577332] |
Chr3:49531722 [GRCh38]
Chr3:49569155 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1392C>G (p.Thr464=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002580383] |
Chr3:49531903 [GRCh38]
Chr3:49569336 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1165C>T (p.Arg389Trp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003062775] |
Chr3:49531676 [GRCh38]
Chr3:49569109 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.98G>T (p.Ser33Ile) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002716876] |
Chr3:49510632 [GRCh38]
Chr3:49548065 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1639G>C (p.Gly547Arg) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002635196] |
Chr3:49532150 [GRCh38]
Chr3:49569583 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1126A>G (p.Ile376Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002678124] |
Chr3:49531637 [GRCh38]
Chr3:49569070 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.160C>G (p.Leu54Val) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002635287] |
Chr3:49510694 [GRCh38]
Chr3:49548127 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1677G>A (p.Gln559=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002583710] |
Chr3:49532188 [GRCh38]
Chr3:49569621 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1087C>G (p.Pro363Ala) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003068096] |
Chr3:49531598 [GRCh38]
Chr3:49569031 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1874A>G (p.Lys625Arg) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002814596] |
Chr3:49532385 [GRCh38]
Chr3:49569818 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2433C>T (p.Pro811=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003070246] |
Chr3:49532944 [GRCh38]
Chr3:49570377 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.420C>T (p.Ala140=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002586748] |
Chr3:49530931 [GRCh38]
Chr3:49568364 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2420C>T (p.Ser807Phe) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003071681] |
Chr3:49532931 [GRCh38]
Chr3:49570364 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1334C>T (p.Thr445Met) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003070791] |
Chr3:49531845 [GRCh38]
Chr3:49569278 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1444A>G (p.Thr482Ala) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003070859] |
Chr3:49531955 [GRCh38]
Chr3:49569388 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2181G>T (p.Val727=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003073202] |
Chr3:49532692 [GRCh38]
Chr3:49570125 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2679C>T (p.Val893=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003092471] |
Chr3:49533190 [GRCh38]
Chr3:49570623 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1455T>A (p.Ser485Arg) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002610996] |
Chr3:49531966 [GRCh38]
Chr3:49569399 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2201C>T (p.Thr734Ile) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002942797] |
Chr3:49532712 [GRCh38]
Chr3:49570145 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1999G>A (p.Glu667Lys) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002635406] |
Chr3:49532510 [GRCh38]
Chr3:49569943 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2429C>A (p.Pro810Gln) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003071011] |
Chr3:49532940 [GRCh38]
Chr3:49570373 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.724A>G (p.Met242Val) |
single nucleotide variant |
not provided [RCV003146005] |
Chr3:49531235 [GRCh38]
Chr3:49568668 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2272G>A (p.Val758Met) |
single nucleotide variant |
not provided [RCV003145982] |
Chr3:49532783 [GRCh38]
Chr3:49570216 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2486C>T (p.Pro829Leu) |
single nucleotide variant |
not provided [RCV003145983] |
Chr3:49532997 [GRCh38]
Chr3:49570430 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1462C>T (p.Pro488Ser) |
single nucleotide variant |
not provided [RCV003146002] |
Chr3:49531973 [GRCh38]
Chr3:49569406 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.133C>G (p.Gln45Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003286851] |
Chr3:49510667 [GRCh38]
Chr3:49548100 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2639C>A (p.Pro880His) |
single nucleotide variant |
not provided [RCV003145997] |
Chr3:49533150 [GRCh38]
Chr3:49570583 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.188C>T (p.Thr63Ile) |
single nucleotide variant |
not provided [RCV003145999] |
Chr3:49510722 [GRCh38]
Chr3:49548155 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.945T>G (p.His315Gln) |
single nucleotide variant |
not provided [RCV003145981] |
Chr3:49531456 [GRCh38]
Chr3:49568889 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.285+1dup |
duplication |
not provided [RCV003145985] |
Chr3:49510818..49510819 [GRCh38]
Chr3:49548251..49548252 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.98G>C (p.Ser33Thr) |
single nucleotide variant |
not provided [RCV003145987] |
Chr3:49510632 [GRCh38]
Chr3:49548065 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2308A>G (p.Ile770Val) |
single nucleotide variant |
not provided [RCV003145995] |
Chr3:49532819 [GRCh38]
Chr3:49570252 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.221T>C (p.Val74Ala) |
single nucleotide variant |
not provided [RCV003145993] |
Chr3:49510755 [GRCh38]
Chr3:49548188 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2506G>A (p.Val836Met) |
single nucleotide variant |
not provided [RCV003145996] |
Chr3:49533017 [GRCh38]
Chr3:49570450 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1639G>T (p.Gly547Cys) |
single nucleotide variant |
not provided [RCV003145989] |
Chr3:49532150 [GRCh38]
Chr3:49569583 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1958G>T (p.Gly653Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003351079] |
Chr3:49532469 [GRCh38]
Chr3:49569902 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2602C>T (p.Pro868Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003362367] |
Chr3:49533113 [GRCh38]
Chr3:49570546 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1224T>C (p.Pro408=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003791241] |
Chr3:49531735 [GRCh38]
Chr3:49569168 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.442A>C (p.Thr148Pro) |
single nucleotide variant |
not provided [RCV003481699] |
Chr3:49530953 [GRCh38]
Chr3:49568386 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.631C>T (p.Leu211=) |
single nucleotide variant |
not provided [RCV003437842] |
Chr3:49531142 [GRCh38]
Chr3:49568575 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1149C>A (p.Gly383=) |
single nucleotide variant |
not provided [RCV003437843] |
Chr3:49531660 [GRCh38]
Chr3:49569093 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.810T>C (p.Ser270=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003797710] |
Chr3:49531321 [GRCh38]
Chr3:49568754 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1345C>T (p.Pro449Ser) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003807694] |
Chr3:49531856 [GRCh38]
Chr3:49569289 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1381C>A (p.Arg461=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003807695] |
Chr3:49531892 [GRCh38]
Chr3:49569325 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.5G>A (p.Arg2Lys) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003807921] |
Chr3:49510539 [GRCh38]
Chr3:49547972 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.534A>G (p.Val178=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003789881] |
Chr3:49531045 [GRCh38]
Chr3:49568478 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.294G>T (p.Ala98=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003785147] |
Chr3:49530805 [GRCh38]
Chr3:49568238 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1985A>G (p.Asn662Ser) |
single nucleotide variant |
not provided [RCV003490665] |
Chr3:49532496 [GRCh38]
Chr3:49569929 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1596C>T (p.Asp532=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003805763] |
Chr3:49532107 [GRCh38]
Chr3:49569540 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.147C>T (p.Ser49=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003781670] |
Chr3:49510681 [GRCh38]
Chr3:49548114 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2010C>T (p.Pro670=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003804938] |
Chr3:49532521 [GRCh38]
Chr3:49569954 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1097C>T (p.Pro366Leu) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003797566] |
Chr3:49531608 [GRCh38]
Chr3:49569041 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.993C>T (p.Ile331=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003785729] |
Chr3:49531504 [GRCh38]
Chr3:49568937 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1908C>T (p.Ala636=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003791205] |
Chr3:49532419 [GRCh38]
Chr3:49569852 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2598A>G (p.Pro866=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003794029] |
Chr3:49533109 [GRCh38]
Chr3:49570542 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1329C>A (p.Thr443=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003788691] |
Chr3:49531840 [GRCh38]
Chr3:49569273 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2022C>G (p.Ile674Met) |
single nucleotide variant |
not provided [RCV003490670] |
Chr3:49532533 [GRCh38]
Chr3:49569966 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.375T>A (p.Asp125Glu) |
single nucleotide variant |
not provided [RCV003490666] |
Chr3:49530886 [GRCh38]
Chr3:49568319 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1486C>T (p.Arg496Cys) |
single nucleotide variant |
not provided [RCV003490669] |
Chr3:49531997 [GRCh38]
Chr3:49569430 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.435C>T (p.Ile145=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003784397] |
Chr3:49530946 [GRCh38]
Chr3:49568379 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1824C>T (p.Phe608=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003796878] |
Chr3:49532335 [GRCh38]
Chr3:49569768 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.777C>T (p.Ser259=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003796256] |
Chr3:49531288 [GRCh38]
Chr3:49568721 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.285+7C>T |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003796947] |
Chr3:49510826 [GRCh38]
Chr3:49548259 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.463G>A (p.Glu155Lys) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003793893] |
Chr3:49530974 [GRCh38]
Chr3:49568407 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.161T>C (p.Leu54Pro) |
single nucleotide variant |
not provided [RCV003490668] |
Chr3:49510695 [GRCh38]
Chr3:49548128 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2319C>G (p.Ile773Met) |
single nucleotide variant |
not provided [RCV003490667] |
Chr3:49532830 [GRCh38]
Chr3:49570263 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.216T>C (p.Ala72=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003794258] |
Chr3:49510750 [GRCh38]
Chr3:49548183 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2280C>T (p.Val760=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003790264] |
Chr3:49532791 [GRCh38]
Chr3:49570224 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2560C>T (p.Arg854Trp) |
single nucleotide variant |
not provided [RCV003490671] |
Chr3:49533071 [GRCh38]
Chr3:49570504 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2590C>T (p.Gln864Ter) |
single nucleotide variant |
not provided [RCV003490672] |
Chr3:49533101 [GRCh38]
Chr3:49570534 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1599G>A (p.Lys533=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003809083] |
Chr3:49532110 [GRCh38]
Chr3:49569543 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.852C>G (p.Gly284=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003800012] |
Chr3:49531363 [GRCh38]
Chr3:49568796 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1801G>C (p.Gly601Arg) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003800117] |
Chr3:49532312 [GRCh38]
Chr3:49569745 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1362G>A (p.Arg454=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003813006] |
Chr3:49531873 [GRCh38]
Chr3:49569306 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2475C>T (p.Pro825=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003812524] |
Chr3:49532986 [GRCh38]
Chr3:49570419 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.462C>T (p.Ile154=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003799823]|DAG1-related condition [RCV003949022] |
Chr3:49530973 [GRCh38]
Chr3:49568406 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.2031G>T (p.Leu677=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003812523] |
Chr3:49532542 [GRCh38]
Chr3:49569975 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1545G>A (p.Glu515=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003812736] |
Chr3:49532056 [GRCh38]
Chr3:49569489 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.969C>G (p.Ala323=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003802876] |
Chr3:49531480 [GRCh38]
Chr3:49568913 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1083T>C (p.Pro361=) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV003803601] |
Chr3:49531594 [GRCh38]
Chr3:49569027 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.897C>T (p.Ile299=) |
single nucleotide variant |
DAG1-related condition [RCV003909686] |
Chr3:49531408 [GRCh38]
Chr3:49568841 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_004393.6(DAG1):c.1588A>G (p.Thr530Ala) |
single nucleotide variant |
not provided [RCV003146001] |
Chr3:49532099 [GRCh38]
Chr3:49569532 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1795C>T (p.Pro599Ser) |
single nucleotide variant |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 [RCV001197639] |
Chr3:49532306 [GRCh38]
Chr3:49569739 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1 |
copy number loss |
not provided [RCV001259686] |
Chr3:48807193..51363558 [GRCh37]
Chr3:3p21.31-21.2 |
pathogenic |
| NM_004393.6(DAG1):c.1381C>T (p.Arg461Trp) |
single nucleotide variant |
Autosomal recessive limb-girdle muscular dystrophy type 2P [RCV002903722]|not provided [RCV003146664] |
Chr3:49531892 [GRCh38]
Chr3:49569325 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1985A>C (p.Asn662Thr) |
single nucleotide variant |
not provided [RCV003145980] |
Chr3:49532496 [GRCh38]
Chr3:49569929 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1720G>A (p.Glu574Lys) |
single nucleotide variant |
not provided [RCV003145988] |
Chr3:49532231 [GRCh38]
Chr3:49569664 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.226C>T (p.Arg76Cys) |
single nucleotide variant |
not provided [RCV003145998] |
Chr3:49510760 [GRCh38]
Chr3:49548193 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.425G>A (p.Gly142Glu) |
single nucleotide variant |
not provided [RCV003146004] |
Chr3:49530936 [GRCh38]
Chr3:49568369 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.898G>A (p.Ala300Thr) |
single nucleotide variant |
not provided [RCV003146006] |
Chr3:49531409 [GRCh38]
Chr3:49568842 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.2041A>T (p.Ile681Phe) |
single nucleotide variant |
not provided [RCV003145979] |
Chr3:49532552 [GRCh38]
Chr3:49569985 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1808G>A (p.Arg603Lys) |
single nucleotide variant |
not provided [RCV003145990] |
Chr3:49532319 [GRCh38]
Chr3:49569752 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1728C>A (p.Phe576Leu) |
single nucleotide variant |
not provided [RCV003145984] |
Chr3:49532239 [GRCh38]
Chr3:49569672 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.1946A>G (p.Asn649Ser) |
single nucleotide variant |
not provided [RCV003145991] |
Chr3:49532457 [GRCh38]
Chr3:49569890 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.836C>G (p.Ala279Gly) |
single nucleotide variant |
not provided [RCV003145994] |
Chr3:49531347 [GRCh38]
Chr3:49568780 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.284A>G (p.Lys95Arg) |
single nucleotide variant |
not provided [RCV003145978] |
Chr3:49510818 [GRCh38]
Chr3:49548251 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_004393.6(DAG1):c.947C>G (p.Ala316Gly) |
single nucleotide variant |
not provided [RCV003146000] |
Chr3:49531458 [GRCh38]
Chr3:49568891 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
