NM_031372.4(HNRNPDL):c.57C>T (p.Pro19=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000548699] |
Chr4:82429634 [GRCh38] Chr4:83350787 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.180C>T (p.His60=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000639996] |
Chr4:82429511 [GRCh38] Chr4:83350664 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.1209T>C (p.Tyr403=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000545640]|not provided [RCV004717652] |
Chr4:82426113 [GRCh38] Chr4:83347266 [GRCh37] Chr4:4q21.22 |
benign |
NM_031372.4(HNRNPDL):c.330G>A (p.Gln110=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000543222]|not provided [RCV003437252] |
Chr4:82429361 [GRCh38] Chr4:83350514 [GRCh37] Chr4:4q21.22 |
benign |
NM_031372.4(HNRNPDL):c.948GCAACA[1] (p.Gln320_Gln321del) |
microsatellite |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000525637] |
Chr4:82427252..82427257 [GRCh38] Chr4:83348405..83348410 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.107G>T (p.Arg36Leu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000527663] |
Chr4:82429584 [GRCh38] Chr4:83350737 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.81C>T (p.Leu27=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000524707]|not provided [RCV004716541] |
Chr4:82429610 [GRCh38] Chr4:83350763 [GRCh37] Chr4:4q21.22 |
benign |
NM_031372.4(HNRNPDL):c.153G>A (p.Arg51=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000529795]|not provided [RCV003437251] |
Chr4:82429538 [GRCh38] Chr4:83350691 [GRCh37] Chr4:4q21.22 |
benign|likely benign |
NM_031372.4(HNRNPDL):c.98_112del (p.Arg33_Gln37del) |
deletion |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000542629]|HNRNPDL-related disorder [RCV003960309] |
Chr4:82429579..82429593 [GRCh38] Chr4:83350732..83350746 [GRCh37] Chr4:4q21.22 |
benign|likely benign|uncertain significance |
GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1 |
copy number loss |
See cases [RCV000050786] |
Chr4:75453111..84094295 [GRCh38] Chr4:76378321..85015448 [GRCh37] Chr4:76597345..85234472 [NCBI36] Chr4:4q21.1-21.23 |
pathogenic |
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 |
copy number gain |
See cases [RCV000051772] |
Chr4:51831622..97505618 [GRCh38] Chr4:52697788..98426769 [GRCh37] Chr4:52392545..98645792 [NCBI36] Chr4:4q12-22.3 |
pathogenic |
GRCh38/hg38 4q13.2-21.23(chr4:67869564-85517308)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|See cases [RCV000053294] |
Chr4:67869564..85517308 [GRCh38] Chr4:68735282..86438461 [GRCh37] Chr4:68417877..86657485 [NCBI36] Chr4:4q13.2-21.23 |
pathogenic |
GRCh38/hg38 4q13.3-22.1(chr4:74031395-90421127)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]|See cases [RCV000053296] |
Chr4:74031395..90421127 [GRCh38] Chr4:74897112..91342278 [GRCh37] Chr4:75115976..91561301 [NCBI36] Chr4:4q13.3-22.1 |
pathogenic |
GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1 |
copy number loss |
See cases [RCV000053297] |
Chr4:79575748..92412449 [GRCh38] Chr4:80496902..93333600 [GRCh37] Chr4:80715926..93552623 [NCBI36] Chr4:4q21.21-22.1 |
pathogenic |
GRCh38/hg38 4q21.21-21.23(chr4:81061483-83332595)x1 |
copy number loss |
See cases [RCV000053298] |
Chr4:81061483..83332595 [GRCh38] Chr4:81982637..84253748 [GRCh37] Chr4:82201661..84472772 [NCBI36] Chr4:4q21.21-21.23 |
pathogenic |
GRCh38/hg38 4q21.22-21.23(chr4:81733333-83448842)x1 |
copy number loss |
See cases [RCV000053299] |
Chr4:81733333..83448842 [GRCh38] Chr4:82654487..84369995 [GRCh37] Chr4:82873511..84589019 [NCBI36] Chr4:4q21.22-21.23 |
pathogenic |
GRCh38/hg38 4q21.22-21.23(chr4:81802008-83437114)x1 |
copy number loss |
See cases [RCV000053300] |
Chr4:81802008..83437114 [GRCh38] Chr4:82723161..84358267 [GRCh37] Chr4:82942185..84577291 [NCBI36] Chr4:4q21.22-21.23 |
pathogenic |
GRCh38/hg38 4q21.22-21.3(chr4:82248692-86778340)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053319]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053319]|See cases [RCV000053319] |
Chr4:82248692..86778340 [GRCh38] Chr4:83169845..87699493 [GRCh37] Chr4:83388869..87918517 [NCBI36] Chr4:4q21.22-21.3 |
pathogenic |
NM_031372.4(HNRNPDL):c.294C>T (p.Ser98=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002198357] |
Chr4:82429397 [GRCh38] Chr4:83350550 [GRCh37] Chr4:83569574 [NCBI36] Chr4:4q21.22 |
likely benign|not provided |
NM_031372.4(HNRNPDL):c.1132G>A (p.Asp378Asn) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000133585] |
Chr4:82426523 [GRCh38] Chr4:83347676 [GRCh37] Chr4:4q21.22 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_031372.4(HNRNPDL):c.1132G>C (p.Asp378His) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000133586]|HNRNPDL-related myopathy with protein aggregates and rimmed vacuoles [RCV004586566]|not provided [RCV003317098] |
Chr4:82426523 [GRCh38] Chr4:83347676 [GRCh37] Chr4:4q21.22 |
pathogenic|likely pathogenic |
GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1 |
copy number loss |
See cases [RCV000134977] |
Chr4:80879777..94809447 [GRCh38] Chr4:81800931..95730598 [GRCh37] Chr4:82019955..95949621 [NCBI36] Chr4:4q21.21-22.3 |
pathogenic |
GRCh38/hg38 4q21.21-21.22(chr4:79742612-83153725)x1 |
copy number loss |
See cases [RCV000135797] |
Chr4:79742612..83153725 [GRCh38] Chr4:80663766..84074878 [GRCh37] Chr4:80882790..84293902 [NCBI36] Chr4:4q21.21-21.22 |
uncertain significance |
GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3 |
copy number gain |
See cases [RCV000138312] |
Chr4:72262258..86002147 [GRCh38] Chr4:73127975..86923300 [GRCh37] Chr4:73346839..87142324 [NCBI36] Chr4:4q13.3-21.3 |
pathogenic |
GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1 |
copy number loss |
See cases [RCV000140416] |
Chr4:80043949..86948317 [GRCh38] Chr4:80965103..87869469 [GRCh37] Chr4:81184127..88088493 [NCBI36] Chr4:4q21.21-21.3 |
pathogenic |
GRCh38/hg38 4q21.22-21.23(chr4:81675848-83970410)x1 |
copy number loss |
See cases [RCV000143321] |
Chr4:81675848..83970410 [GRCh38] Chr4:82597002..84891563 [GRCh37] Chr4:82816026..85110587 [NCBI36] Chr4:4q21.22-21.23 |
likely pathogenic |
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3 |
copy number gain |
See cases [RCV000143458] |
Chr4:68686088..95294456 [GRCh38] Chr4:69551806..96215607 [GRCh37] Chr4:69234401..96434630 [NCBI36] Chr4:4q13.2-22.3 |
pathogenic |
GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1 |
copy number loss |
See cases [RCV000136865] |
Chr4:79786514..85832807 [GRCh38] Chr4:80707668..86753960 [GRCh37] Chr4:80926692..86972984 [NCBI36] Chr4:4q21.21-21.23 |
pathogenic |
GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1 |
copy number loss |
See cases [RCV000137269] |
Chr4:80427023..100855441 [GRCh38] Chr4:81348177..101776598 [GRCh37] Chr4:81567201..101995621 [NCBI36] Chr4:4q21.21-24 |
pathogenic |
GRCh38/hg38 4q21.21-21.23(chr4:80908016-84329610)x1 |
copy number loss |
See cases [RCV000137863] |
Chr4:80908016..84329610 [GRCh38] Chr4:81829170..85250763 [GRCh37] Chr4:82048194..85469787 [NCBI36] Chr4:4q21.21-21.23 |
likely pathogenic |
NM_031372.4(HNRNPDL):c.907-8del |
deletion |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000549377] |
Chr4:82427312 [GRCh38] Chr4:83348465 [GRCh37] Chr4:4q21.22 |
benign |
NM_031372.4(HNRNPDL):c.169G>A (p.Ala57Thr) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000546572] |
Chr4:82429522 [GRCh38] Chr4:83350675 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.113T>C (p.Leu38Pro) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000552897]|not specified [RCV004023981] |
Chr4:82429578 [GRCh38] Chr4:83350731 [GRCh37] Chr4:4q21.22 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_031372.4(HNRNPDL):c.124_125delinsTC (p.Leu42Ser) |
indel |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000553811]|not provided [RCV001508153] |
Chr4:82429566..82429567 [GRCh38] Chr4:83350719..83350720 [GRCh37] Chr4:4q21.22 |
likely benign|uncertain significance |
NM_031372.4(HNRNPDL):c.99_113del (p.Pro34_Leu38del) |
deletion |
not provided [RCV000415898] |
Chr4:82429578..82429592 [GRCh38] Chr4:83350731..83350745 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1108A>C (p.Asn370His) |
single nucleotide variant |
not provided [RCV000416226] |
Chr4:82426547 [GRCh38] Chr4:83347700 [GRCh37] Chr4:4q21.22 |
uncertain significance |
GRCh37/hg19 4q21.21-22.1(chr4:82283358-90341831)x1 |
copy number loss |
See cases [RCV000447691] |
Chr4:82283358..90341831 [GRCh37] Chr4:4q21.21-22.1 |
pathogenic |
NM_031372.4(HNRNPDL):c.644G>C (p.Gly215Ala) |
single nucleotide variant |
not provided [RCV000479713] |
Chr4:82428148 [GRCh38] Chr4:83349301 [GRCh37] Chr4:4q21.22 |
uncertain significance |
GRCh37/hg19 4q21.22(chr4:83264510-83454808)x1 |
copy number loss |
See cases [RCV000511346] |
Chr4:83264510..83454808 [GRCh37] Chr4:4q21.22 |
uncertain significance |
GRCh37/hg19 4q21.22(chr4:83003904-83575588)x1 |
copy number loss |
See cases [RCV000511891] |
Chr4:83003904..83575588 [GRCh37] Chr4:4q21.22 |
uncertain significance |
GRCh37/hg19 4q21.21-21.23(chr4:82359656-84155605)x1 |
copy number loss |
See cases [RCV000511583] |
Chr4:82359656..84155605 [GRCh37] Chr4:4q21.21-21.23 |
likely pathogenic |
NM_031372.4(HNRNPDL):c.253C>T (p.Leu85Phe) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000558961]|not specified [RCV004927628] |
Chr4:82429438 [GRCh38] Chr4:83350591 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.356C>T (p.Thr119Ile) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000559876]|not provided [RCV004716540] |
Chr4:82429335 [GRCh38] Chr4:83350488 [GRCh37] Chr4:4q21.22 |
benign |
NM_031372.4(HNRNPDL):c.10C>T (p.Pro4Ser) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000639990] |
Chr4:82429681 [GRCh38] Chr4:83350834 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.114A>G (p.Leu38=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000533168]|HNRNPDL-related disorder [RCV003935451] |
Chr4:82429577 [GRCh38] Chr4:83350730 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.1012C>T (p.Arg338Cys) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000626191] |
Chr4:82427199 [GRCh38] Chr4:83348352 [GRCh37] Chr4:4q21.22 |
likely pathogenic|uncertain significance |
NM_031372.4(HNRNPDL):c.314C>T (p.Thr105Ile) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000535298] |
Chr4:82429377 [GRCh38] Chr4:83350530 [GRCh37] Chr4:4q21.22 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_031372.4(HNRNPDL):c.110A>C (p.Gln37Pro) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000540408]|not specified [RCV004023980] |
Chr4:82429581 [GRCh38] Chr4:83350734 [GRCh37] Chr4:4q21.22 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 4q21.22(chr4:82790850-83567592)x1 |
copy number loss |
See cases [RCV000512466] |
Chr4:82790850..83567592 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.316C>T (p.Arg106Trp) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003766895]|not provided [RCV000513631]|not specified [RCV004023468] |
Chr4:82429375 [GRCh38] Chr4:83350528 [GRCh37] Chr4:4q21.22 |
uncertain significance |
GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1 |
copy number loss |
not provided [RCV000682426] |
Chr4:81314915..96636651 [GRCh37] Chr4:4q21.21-22.3 |
pathogenic |
NM_031372.4(HNRNPDL):c.280T>G (p.Ser94Ala) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000685031]|not specified [RCV004026179] |
Chr4:82429411 [GRCh38] Chr4:83350564 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.155A>T (p.Gln52Leu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000689804] |
Chr4:82429536 [GRCh38] Chr4:83350689 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.101_109del (p.Pro34_Arg36del) |
deletion |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000694492] |
Chr4:82429582..82429590 [GRCh38] Chr4:83350735..83350743 [GRCh37] Chr4:4q21.22 |
uncertain significance |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 |
copy number gain |
not provided [RCV000743155] |
Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 |
copy number gain |
not provided [RCV000743156] |
Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
NM_031372.4(HNRNPDL):c.78C>T (p.Ser26=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000878956] |
Chr4:82429613 [GRCh38] Chr4:83350766 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.69C>T (p.Ala23=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001410431] |
Chr4:82429622 [GRCh38] Chr4:83350775 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.125T>C (p.Leu42Pro) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000948277]|not provided [RCV001357046] |
Chr4:82429566 [GRCh38] Chr4:83350719 [GRCh37] Chr4:4q21.22 |
benign|uncertain significance |
NM_031372.4(HNRNPDL):c.282C>T (p.Ser94=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001495701]|HNRNPDL-related disorder [RCV003967929] |
Chr4:82429409 [GRCh38] Chr4:83350562 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.622C>T (p.Leu208=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001441684] |
Chr4:82428170 [GRCh38] Chr4:83349323 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.396C>T (p.Phe132=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001402401] |
Chr4:82429295 [GRCh38] Chr4:83350448 [GRCh37] Chr4:4q21.22 |
likely benign |
GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1 |
copy number loss |
not provided [RCV001005556] |
Chr4:72680879..86426232 [GRCh37] Chr4:4q13.3-21.23 |
pathogenic |
GRCh37/hg19 4q21.22-21.23(chr4:82593140-85651685)x1 |
copy number loss |
not provided [RCV001005566] |
Chr4:82593140..85651685 [GRCh37] Chr4:4q21.22-21.23 |
pathogenic |
NM_031372.4(HNRNPDL):c.281C>G (p.Ser94Cys) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001060011] |
Chr4:82429410 [GRCh38] Chr4:83350563 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.42G>C (p.Leu14Phe) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001060028] |
Chr4:82429649 [GRCh38] Chr4:83350802 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.277A>G (p.Ser93Gly) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001070674]|not specified [RCV004030759] |
Chr4:82429414 [GRCh38] Chr4:83350567 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1127G>A (p.Gly376Glu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000803551] |
Chr4:82426528 [GRCh38] Chr4:83347681 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1021+6A>G |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000810171] |
Chr4:82427184 [GRCh38] Chr4:83348337 [GRCh37] Chr4:4q21.22 |
uncertain significance |
GRCh37/hg19 4q21.21-22.1(chr4:82043901-88334228) |
copy number loss |
not provided [RCV000767792] |
Chr4:82043901..88334228 [GRCh37] Chr4:4q21.21-22.1 |
pathogenic |
NM_031372.4(HNRNPDL):c.245G>T (p.Arg82Leu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000817684] |
Chr4:82429446 [GRCh38] Chr4:83350599 [GRCh37] Chr4:4q21.22 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_031372.4(HNRNPDL):c.84C>G (p.Ser28=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001501425] |
Chr4:82429607 [GRCh38] Chr4:83350760 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.45C>T (p.Phe15=) |
single nucleotide variant |
not provided [RCV000917307] |
Chr4:82429646 [GRCh38] Chr4:83350799 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.96G>A (p.Pro32=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000981160] |
Chr4:82429595 [GRCh38] Chr4:83350748 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.99G>T (p.Arg33=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000874975] |
Chr4:82429592 [GRCh38] Chr4:83350745 [GRCh37] Chr4:4q21.22 |
likely benign |
GRCh37/hg19 4q21.22(chr4:83026373-83367140)x1 |
copy number loss |
not provided [RCV001005567] |
Chr4:83026373..83367140 [GRCh37] Chr4:4q21.22 |
likely pathogenic |
NM_031372.4(HNRNPDL):c.337C>T (p.Pro113Ser) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000817568]|not specified [RCV004028918] |
Chr4:82429354 [GRCh38] Chr4:83350507 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.142A>G (p.Ser48Gly) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000795759] |
Chr4:82429549 [GRCh38] Chr4:83350702 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.169del (p.Ala57fs) |
deletion |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000809925] |
Chr4:82429522 [GRCh38] Chr4:83350675 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.329A>G (p.Gln110Arg) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000818507]|not specified [RCV004028959] |
Chr4:82429362 [GRCh38] Chr4:83350515 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.294CGC[4] (p.Ala104dup) |
microsatellite |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000797202] |
Chr4:82429388..82429389 [GRCh38] Chr4:83350541..83350542 [GRCh37] Chr4:4q21.22 |
uncertain significance |
GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1 |
copy number loss |
See cases [RCV000790579] |
Chr4:80482400..92572499 [GRCh37] Chr4:4q21.21-22.1 |
pathogenic |
NM_031372.4(HNRNPDL):c.908G>T (p.Cys303Phe) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000793146] |
Chr4:82427303 [GRCh38] Chr4:83348456 [GRCh37] Chr4:4q21.22 |
uncertain significance |
GRCh37/hg19 4q21.1-21.23(chr4:78769297-84968832)x1 |
copy number loss |
not provided [RCV000846933] |
Chr4:78769297..84968832 [GRCh37] Chr4:4q21.1-21.23 |
pathogenic |
NM_031372.4(HNRNPDL):c.119C>G (p.Pro40Arg) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000800598] |
Chr4:82429572 [GRCh38] Chr4:83350725 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.47C>T (p.Pro16Leu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000819000] |
Chr4:82429644 [GRCh38] Chr4:83350797 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.848A>G (p.Asp283Gly) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000822611] |
Chr4:82427491 [GRCh38] Chr4:83348644 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.326G>C (p.Arg109Pro) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000811473]|not specified [RCV004028729] |
Chr4:82429365 [GRCh38] Chr4:83350518 [GRCh37] Chr4:4q21.22 |
uncertain significance |
GRCh37/hg19 4q21.21-21.22(chr4:80199183-84074906)x1 |
copy number loss |
not provided [RCV000848187] |
Chr4:80199183..84074906 [GRCh37] Chr4:4q21.21-21.22 |
pathogenic |
NM_031372.4(HNRNPDL):c.1125C>T (p.Gly375=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001455624] |
Chr4:82426530 [GRCh38] Chr4:83347683 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.65T>C (p.Leu22Ser) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001226316]|not specified [RCV004032568] |
Chr4:82429626 [GRCh38] Chr4:83350779 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.766T>A (p.Phe256Ile) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001225180] |
Chr4:82428026 [GRCh38] Chr4:83349179 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1155G>T (p.Gly385=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001230065] |
Chr4:82426500 [GRCh38] Chr4:83347653 [GRCh37] Chr4:4q21.22 |
likely benign|uncertain significance |
NM_031372.4(HNRNPDL):c.136G>C (p.Ala46Pro) |
single nucleotide variant |
See cases [RCV003232933]|not provided [RCV003436000] |
Chr4:82429555 [GRCh38] Chr4:83350708 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.270T>G (p.Phe90Leu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003104826] |
Chr4:82429421 [GRCh38] Chr4:83350574 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.-762C>A |
single nucleotide variant |
not provided [RCV001687330] |
Chr4:82430452 [GRCh38] Chr4:83351605 [GRCh37] Chr4:4q21.22 |
benign |
NM_031372.4(HNRNPDL):c.1022-60dup |
duplication |
not provided [RCV001698543] |
Chr4:82426689..82426690 [GRCh38] Chr4:83347842..83347843 [GRCh37] Chr4:4q21.22 |
benign |
NM_031372.4(HNRNPDL):c.1097G>C (p.Gly366Ala) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000874590] |
Chr4:82426558 [GRCh38] Chr4:83347711 [GRCh37] Chr4:4q21.22 |
likely benign|conflicting interpretations of pathogenicity |
NM_031372.4(HNRNPDL):c.495A>C (p.Thr165=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001475613] |
Chr4:82428395 [GRCh38] Chr4:83349548 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.36G>A (p.Pro12=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001472770] |
Chr4:82429655 [GRCh38] Chr4:83350808 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.201C>T (p.Ser67=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001403702] |
Chr4:82429490 [GRCh38] Chr4:83350643 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.21T>C (p.Leu7=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002065522]|not provided [RCV003438558] |
Chr4:82429670 [GRCh38] Chr4:83350823 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.915C>A (p.Ile305=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002539995] |
Chr4:82427296 [GRCh38] Chr4:83348449 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.124C>T (p.Leu42Phe) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000948278]|not provided [RCV003432951] |
Chr4:82429567 [GRCh38] Chr4:83350720 [GRCh37] Chr4:4q21.22 |
benign |
NM_031372.4(HNRNPDL):c.177C>T (p.Arg59=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001411335] |
Chr4:82429514 [GRCh38] Chr4:83350667 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.660C>T (p.Pro220=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001414011] |
Chr4:82428132 [GRCh38] Chr4:83349285 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.1022-205A>C |
single nucleotide variant |
not provided [RCV001656154] |
Chr4:82426838 [GRCh38] Chr4:83347991 [GRCh37] Chr4:4q21.22 |
benign |
NM_031372.4(HNRNPDL):c.774+193A>G |
single nucleotide variant |
not provided [RCV001597842] |
Chr4:82427825 [GRCh38] Chr4:83348978 [GRCh37] Chr4:4q21.22 |
benign |
NM_031372.4(HNRNPDL):c.-111G>A |
single nucleotide variant |
not provided [RCV001663085] |
Chr4:82429801 [GRCh38] Chr4:83350954 [GRCh37] Chr4:4q21.22 |
benign |
NM_031372.4(HNRNPDL):c.*22+84A>G |
single nucleotide variant |
not provided [RCV001698855] |
Chr4:82425953 [GRCh38] Chr4:83347106 [GRCh37] Chr4:4q21.22 |
benign |
Single allele |
deletion |
Chromosome 4q21 deletion syndrome [RCV001172266] |
Chr4:83196931..85540706 [GRCh37] Chr4:4q21.22-21.23 |
pathogenic |
NM_031372.4(HNRNPDL):c.1193-31_1193-28del |
deletion |
not provided [RCV001614097] |
Chr4:82426157..82426160 [GRCh38] Chr4:83347310..83347313 [GRCh37] Chr4:4q21.22 |
benign |
NM_031372.4(HNRNPDL):c.775-181A>G |
single nucleotide variant |
not provided [RCV001533881] |
Chr4:82427745 [GRCh38] Chr4:83348898 [GRCh37] Chr4:4q21.22 |
benign |
NM_031372.4(HNRNPDL):c.188C>T (p.Ala63Val) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001040451] |
Chr4:82429503 [GRCh38] Chr4:83350656 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.324_341del (p.Arg109_Ala114del) |
deletion |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001208293] |
Chr4:82429350..82429367 [GRCh38] Chr4:83350503..83350520 [GRCh37] Chr4:4q21.22 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_031372.4(HNRNPDL):c.139C>T (p.Pro47Ser) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001063706]|not specified [RCV004030505] |
Chr4:82429552 [GRCh38] Chr4:83350705 [GRCh37] Chr4:4q21.22 |
uncertain significance |
GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1 |
copy number loss |
See cases [RCV001263040] |
Chr4:71412409..87920784 [GRCh37] Chr4:4q13.3-21.3 |
pathogenic |
NM_031372.4(HNRNPDL):c.698A>G (p.Lys233Arg) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001320468] |
Chr4:82428094 [GRCh38] Chr4:83349247 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.303TGC[3] (p.Ala104dup) |
microsatellite |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001320354] |
Chr4:82429382..82429383 [GRCh38] Chr4:83350535..83350536 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.397G>A (p.Ala133Thr) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001373506]|not specified [RCV004037570] |
Chr4:82429294 [GRCh38] Chr4:83350447 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.255_256del (p.Phe86fs) |
microsatellite |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001371934] |
Chr4:82429435..82429436 [GRCh38] Chr4:83350588..83350589 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.176G>T (p.Arg59Leu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001361068] |
Chr4:82429515 [GRCh38] Chr4:83350668 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.317G>C (p.Arg106Pro) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001360753] |
Chr4:82429374 [GRCh38] Chr4:83350527 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.92GGCCGC[3] (p.31RP[3]) |
microsatellite |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001327101] |
Chr4:82429587..82429588 [GRCh38] Chr4:83350740..83350741 [GRCh37] Chr4:4q21.22 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_031372.4(HNRNPDL):c.191A>G (p.Gln64Arg) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001359915] |
Chr4:82429500 [GRCh38] Chr4:83350653 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.73C>G (p.Arg25Gly) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001373287] |
Chr4:82429618 [GRCh38] Chr4:83350771 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.61A>G (p.Thr21Ala) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001351720]|not provided [RCV003438750] |
Chr4:82429630 [GRCh38] Chr4:83350783 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.907-4A>G |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001421793] |
Chr4:82427308 [GRCh38] Chr4:83348461 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.128C>T (p.Pro43Leu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001295917] |
Chr4:82429563 [GRCh38] Chr4:83350716 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.86A>G (p.His29Arg) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001306984] |
Chr4:82429605 [GRCh38] Chr4:83350758 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.444-10_444-9del |
deletion |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001368803] |
Chr4:82428455..82428456 [GRCh38] Chr4:83349608..83349609 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.274T>C (p.Ser92Pro) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001315164] |
Chr4:82429417 [GRCh38] Chr4:83350570 [GRCh37] Chr4:4q21.22 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_031372.4(HNRNPDL):c.793C>G (p.Pro265Ala) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001371795] |
Chr4:82427546 [GRCh38] Chr4:83348699 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.70T>G (p.Ser24Ala) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001337316] |
Chr4:82429621 [GRCh38] Chr4:83350774 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.351C>A (p.Ser117=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001468967] |
Chr4:82429340 [GRCh38] Chr4:83350493 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.228G>A (p.Lys76=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001497964] |
Chr4:82429463 [GRCh38] Chr4:83350616 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.351C>T (p.Ser117=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001401029] |
Chr4:82429340 [GRCh38] Chr4:83350493 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.147C>T (p.Ser49=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001448347] |
Chr4:82429544 [GRCh38] Chr4:83350697 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.57C>G (p.Pro19=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001459529] |
Chr4:82429634 [GRCh38] Chr4:83350787 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.309C>G (p.Ala103=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001477767] |
Chr4:82429382 [GRCh38] Chr4:83350535 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.264C>A (p.Arg88=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001457291] |
Chr4:82429427 [GRCh38] Chr4:83350580 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.255C>T (p.Leu85=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001482304] |
Chr4:82429436 [GRCh38] Chr4:83350589 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.453T>C (p.Phe151=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001467962] |
Chr4:82428437 [GRCh38] Chr4:83349590 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.963A>G (p.Gln321=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001463966] |
Chr4:82427248 [GRCh38] Chr4:83348401 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.985G>C (p.Ala329Pro) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003108724]|not specified [RCV004927899] |
Chr4:82427226 [GRCh38] Chr4:83348379 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.241C>T (p.Arg81Trp) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001868442]|not provided [RCV001763616] |
Chr4:82429450 [GRCh38] Chr4:83350603 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.285A>G (p.Ile95Met) |
single nucleotide variant |
not specified [RCV004313932] |
Chr4:82429406 [GRCh38] Chr4:83350559 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.728A>G (p.Asp243Gly) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002025384] |
Chr4:82428064 [GRCh38] Chr4:83349217 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.301G>A (p.Ala101Thr) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001929080] |
Chr4:82429390 [GRCh38] Chr4:83350543 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.355A>G (p.Thr119Ala) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002044923] |
Chr4:82429336 [GRCh38] Chr4:83350489 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.286C>T (p.Gln96Ter) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002009150] |
Chr4:82429405 [GRCh38] Chr4:83350558 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.127C>A (p.Pro43Thr) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001927955] |
Chr4:82429564 [GRCh38] Chr4:83350717 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.247C>G (p.Pro83Ala) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001930066] |
Chr4:82429444 [GRCh38] Chr4:83350597 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.986C>T (p.Ala329Val) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001909794] |
Chr4:82427225 [GRCh38] Chr4:83348378 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.192G>C (p.Gln64His) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001966050] |
Chr4:82429499 [GRCh38] Chr4:83350652 [GRCh37] Chr4:4q21.22 |
uncertain significance |
GRCh37/hg19 4q21.21-22.1(chr4:81054789-90667421) |
copy number loss |
not specified [RCV002053435] |
Chr4:81054789..90667421 [GRCh37] Chr4:4q21.21-22.1 |
pathogenic |
GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156) |
copy number gain |
not specified [RCV002053429] |
Chr4:75737340..91131156 [GRCh37] Chr4:4q13.3-22.1 |
pathogenic |
GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225) |
copy number loss |
not specified [RCV002053432] |
Chr4:79780152..94873225 [GRCh37] Chr4:4q21.21-22.2 |
pathogenic |
NM_031372.4(HNRNPDL):c.292T>G (p.Ser98Ala) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001926425]|not specified [RCV004044184] |
Chr4:82429399 [GRCh38] Chr4:83350552 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.101C>T (p.Pro34Leu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001912235]|not specified [RCV004041100] |
Chr4:82429590 [GRCh38] Chr4:83350743 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.68C>T (p.Ala23Val) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002003449] |
Chr4:82429623 [GRCh38] Chr4:83350776 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.158G>A (p.Gly53Glu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001927014] |
Chr4:82429533 [GRCh38] Chr4:83350686 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1190G>A (p.Ser397Asn) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001948374] |
Chr4:82426465 [GRCh38] Chr4:83347618 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.338dup (p.Ala114fs) |
duplication |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002007825] |
Chr4:82429352..82429353 [GRCh38] Chr4:83350505..83350506 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1142G>T (p.Gly381Val) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001889246] |
Chr4:82426513 [GRCh38] Chr4:83347666 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.115G>A (p.Ala39Thr) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001945787] |
Chr4:82429576 [GRCh38] Chr4:83350729 [GRCh37] Chr4:4q21.22 |
uncertain significance |
GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1 |
copy number loss |
not provided [RCV001829208] |
Chr4:80467886..93362064 [GRCh37] Chr4:4q21.21-22.1 |
pathogenic |
NM_031372.4(HNRNPDL):c.814_815delinsAT (p.Glu272Ile) |
indel |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001968410] |
Chr4:82427524..82427525 [GRCh38] Chr4:83348677..83348678 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1049T>C (p.Phe350Ser) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001954275]|not provided [RCV003481223] |
Chr4:82426606 [GRCh38] Chr4:83347759 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.149C>T (p.Ala50Val) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001995136] |
Chr4:82429542 [GRCh38] Chr4:83350695 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.67G>A (p.Ala23Thr) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001944837] |
Chr4:82429624 [GRCh38] Chr4:83350777 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.386T>C (p.Ile129Thr) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002020121] |
Chr4:82429305 [GRCh38] Chr4:83350458 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.552C>G (p.Val184=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001953827] |
Chr4:82428338 [GRCh38] Chr4:83349491 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.273A>G (p.Lys91=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002028038] |
Chr4:82429418 [GRCh38] Chr4:83350571 [GRCh37] Chr4:4q21.22 |
likely benign|uncertain significance |
NM_031372.4(HNRNPDL):c.26A>T (p.His9Leu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001951879] |
Chr4:82429665 [GRCh38] Chr4:83350818 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.745A>G (p.Ile249Val) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002032180] |
Chr4:82428047 [GRCh38] Chr4:83349200 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.311C>G (p.Ala104Gly) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001935411] |
Chr4:82429380 [GRCh38] Chr4:83350533 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1090G>A (p.Ala364Thr) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001931943] |
Chr4:82426565 [GRCh38] Chr4:83347718 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.58G>A (p.Ala20Thr) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001882133] |
Chr4:82429633 [GRCh38] Chr4:83350786 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.259C>T (p.Arg87Cys) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001955632]|not specified [RCV004043639] |
Chr4:82429432 [GRCh38] Chr4:83350585 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.283A>G (p.Ile95Val) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001961595] |
Chr4:82429408 [GRCh38] Chr4:83350561 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.139C>G (p.Pro47Ala) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001940327] |
Chr4:82429552 [GRCh38] Chr4:83350705 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.181G>T (p.Val61Phe) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001976886] |
Chr4:82429510 [GRCh38] Chr4:83350663 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.283A>C (p.Ile95Leu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001866445] |
Chr4:82429408 [GRCh38] Chr4:83350561 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.882A>G (p.Arg294=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001938736] |
Chr4:82427457 [GRCh38] Chr4:83348610 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.320C>G (p.Thr107Ser) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002013647]|not specified [RCV004046231] |
Chr4:82429371 [GRCh38] Chr4:83350524 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.612+5G>A |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002030192] |
Chr4:82428273 [GRCh38] Chr4:83349426 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.163C>G (p.Arg55Gly) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002033966]|not specified [RCV004927803] |
Chr4:82429528 [GRCh38] Chr4:83350681 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.83C>G (p.Ser28Cys) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001981273] |
Chr4:82429608 [GRCh38] Chr4:83350761 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.7G>A (p.Val3Ile) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001866278] |
Chr4:82429684 [GRCh38] Chr4:83350837 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1136A>G (p.Tyr379Cys) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001988959] |
Chr4:82426519 [GRCh38] Chr4:83347672 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.305C>T (p.Ala102Val) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001992676] |
Chr4:82429386 [GRCh38] Chr4:83350539 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.17G>C (p.Arg6Thr) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001903076] |
Chr4:82429674 [GRCh38] Chr4:83350827 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1236_1237delinsAA (p.Asn412_His413delinsLysAsn) |
indel |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001902961] |
Chr4:82426085..82426086 [GRCh38] Chr4:83347238..83347239 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.298G>A (p.Ala100Thr) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001990531] |
Chr4:82429393 [GRCh38] Chr4:83350546 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.490C>T (p.Leu164=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002126896]|HNRNPDL-related disorder [RCV003895792] |
Chr4:82428400 [GRCh38] Chr4:83349553 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.261C>T (p.Arg87=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002165613] |
Chr4:82429430 [GRCh38] Chr4:83350583 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.775-16T>C |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002111260] |
Chr4:82427580 [GRCh38] Chr4:83348733 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.443+18C>T |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002205544] |
Chr4:82429230 [GRCh38] Chr4:83350383 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.775-20A>T |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002169165] |
Chr4:82427584 [GRCh38] Chr4:83348737 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.1092C>T (p.Ala364=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002205381] |
Chr4:82426563 [GRCh38] Chr4:83347716 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.735T>G (p.Ser245=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002147837] |
Chr4:82428057 [GRCh38] Chr4:83349210 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.141C>T (p.Pro47=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002128272] |
Chr4:82429550 [GRCh38] Chr4:83350703 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.613-17A>G |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002151536] |
Chr4:82428196 [GRCh38] Chr4:83349349 [GRCh37] Chr4:4q21.22 |
benign |
NM_031372.4(HNRNPDL):c.843T>C (p.Tyr281=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002167833] |
Chr4:82427496 [GRCh38] Chr4:83348649 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.444-20A>T |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002213830] |
Chr4:82428466 [GRCh38] Chr4:83349619 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.774+11A>G |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002207931] |
Chr4:82428007 [GRCh38] Chr4:83349160 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.732T>G (p.Thr244=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002115823] |
Chr4:82428060 [GRCh38] Chr4:83349213 [GRCh37] Chr4:4q21.22 |
benign |
NM_031372.4(HNRNPDL):c.249G>A (p.Pro83=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002129361] |
Chr4:82429442 [GRCh38] Chr4:83350595 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.444-20_444-11del |
deletion |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002094771] |
Chr4:82428457..82428466 [GRCh38] Chr4:83349610..83349619 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.443+15T>A |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002134516] |
Chr4:82429233 [GRCh38] Chr4:83350386 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.576A>C (p.Gly192=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002192406] |
Chr4:82428314 [GRCh38] Chr4:83349467 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.9C>G (p.Val3=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002199412] |
Chr4:82429682 [GRCh38] Chr4:83350835 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.1021+16T>G |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002219537] |
Chr4:82427174 [GRCh38] Chr4:83348327 [GRCh37] Chr4:4q21.22 |
benign |
NM_031372.4(HNRNPDL):c.291C>T (p.Arg97=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002177048] |
Chr4:82429400 [GRCh38] Chr4:83350553 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.969T>G (p.Gly323=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002119349]|HNRNPDL-related disorder [RCV003895922] |
Chr4:82427242 [GRCh38] Chr4:83348395 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.54T>C (p.Ala18=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002154625] |
Chr4:82429637 [GRCh38] Chr4:83350790 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.693T>G (p.Pro231=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002099230] |
Chr4:82428099 [GRCh38] Chr4:83349252 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.443+9C>T |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002144203] |
Chr4:82429239 [GRCh38] Chr4:83350392 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.613-15A>T |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002119677] |
Chr4:82428194 [GRCh38] Chr4:83349347 [GRCh37] Chr4:4q21.22 |
benign |
NM_031372.4(HNRNPDL):c.711G>T (p.Val237=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002140894]|not provided [RCV004711875] |
Chr4:82428081 [GRCh38] Chr4:83349234 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.354C>T (p.Val118=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002139708] |
Chr4:82429337 [GRCh38] Chr4:83350490 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.417C>T (p.Asn139=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002160382] |
Chr4:82429274 [GRCh38] Chr4:83350427 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.312G>C (p.Ala104=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002083755] |
Chr4:82429379 [GRCh38] Chr4:83350532 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.443+12T>G |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002103834] |
Chr4:82429236 [GRCh38] Chr4:83350389 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.612+13T>A |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002123621] |
Chr4:82428265 [GRCh38] Chr4:83349418 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.1062T>C (p.Tyr354=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002163080] |
Chr4:82426593 [GRCh38] Chr4:83347746 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.907-5T>A |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002142800] |
Chr4:82427309 [GRCh38] Chr4:83348462 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.318G>C (p.Arg106=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003111520] |
Chr4:82429373 [GRCh38] Chr4:83350526 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.710T>G (p.Val237Gly) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003117329] |
Chr4:82428082 [GRCh38] Chr4:83349235 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.119C>T (p.Pro40Leu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003118709] |
Chr4:82429572 [GRCh38] Chr4:83350725 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NC_000004.11:g.(?_83347212)_(83350843_?)del |
deletion |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003122801] |
Chr4:83347212..83350843 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.443+17C>T |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003118879] |
Chr4:82429231 [GRCh38] Chr4:83350384 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.110_113delinsCGCC (p.Gln37_Leu38delinsProPro) |
indel |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003131148]|not specified [RCV004701011] |
Chr4:82429578..82429581 [GRCh38] Chr4:83350731..83350734 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.316C>G (p.Arg106Gly) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003131150] |
Chr4:82429375 [GRCh38] Chr4:83350528 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.90G>C (p.Trp30Cys) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003852819] |
Chr4:82429601 [GRCh38] Chr4:83350754 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.642T>G (p.Asp214Glu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003095897]|not provided [RCV002261752] |
Chr4:82428150 [GRCh38] Chr4:83349303 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.115_116delinsTT (p.Ala39Phe) |
indel |
not provided [RCV002276123] |
Chr4:82429575..82429576 [GRCh38] Chr4:83350728..83350729 [GRCh37] Chr4:4q21.22 |
likely pathogenic |
NM_031372.4(HNRNPDL):c.295G>A (p.Ala99Thr) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005058228]|not provided [RCV002283032] |
Chr4:82429396 [GRCh38] Chr4:83350549 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.52G>C (p.Ala18Pro) |
single nucleotide variant |
not provided [RCV002288105] |
Chr4:82429639 [GRCh38] Chr4:83350792 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.327C>T (p.Arg109=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002967601] |
Chr4:82429364 [GRCh38] Chr4:83350517 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.840A>C (p.Thr280=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002816503] |
Chr4:82427499 [GRCh38] Chr4:83348652 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.336C>A (p.Pro112=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002972621] |
Chr4:82429355 [GRCh38] Chr4:83350508 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.444-14_444-13del |
microsatellite |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002903669] |
Chr4:82428459..82428460 [GRCh38] Chr4:83349612..83349613 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.105_113del (p.Arg36_Leu38del) |
deletion |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002971764] |
Chr4:82429578..82429586 [GRCh38] Chr4:83350731..83350739 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.133C>T (p.Leu45Phe) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002993640] |
Chr4:82429558 [GRCh38] Chr4:83350711 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.87T>C (p.His29=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003035085] |
Chr4:82429604 [GRCh38] Chr4:83350757 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.22T>C (p.Ser8Pro) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002731420] |
Chr4:82429669 [GRCh38] Chr4:83350822 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.103C>A (p.Pro35Thr) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002686178] |
Chr4:82429588 [GRCh38] Chr4:83350741 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1018C>A (p.Arg340=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002857993] |
Chr4:82427193 [GRCh38] Chr4:83348346 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.407C>T (p.Ser136Phe) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002995597]|not specified [RCV004065296] |
Chr4:82429284 [GRCh38] Chr4:83350437 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.303T>C (p.Ala101=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002927406] |
Chr4:82429388 [GRCh38] Chr4:83350541 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.48C>T (p.Pro16=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002914382] |
Chr4:82429643 [GRCh38] Chr4:83350796 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.1022-14G>C |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002949168] |
Chr4:82426647 [GRCh38] Chr4:83347800 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.105G>A (p.Pro35=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002638211] |
Chr4:82429586 [GRCh38] Chr4:83350739 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.594T>G (p.Asp198Glu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002952487] |
Chr4:82428296 [GRCh38] Chr4:83349449 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.245G>A (p.Arg82His) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003081236] |
Chr4:82429446 [GRCh38] Chr4:83350599 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.443+14C>A |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002796470] |
Chr4:82429234 [GRCh38] Chr4:83350387 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.42G>T (p.Leu14Phe) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002886380]|not specified [RCV004066015] |
Chr4:82429649 [GRCh38] Chr4:83350802 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.33G>T (p.Pro11=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003100223] |
Chr4:82429658 [GRCh38] Chr4:83350811 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.955CAA[2] (p.Gln321del) |
microsatellite |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003053537] |
Chr4:82427248..82427250 [GRCh38] Chr4:83348401..83348403 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.307G>C (p.Ala103Pro) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003777959]|not specified [RCV004174374] |
Chr4:82429384 [GRCh38] Chr4:83350537 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.774+3G>A |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002927174] |
Chr4:82428015 [GRCh38] Chr4:83349168 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.180C>G (p.His60Gln) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002913666] |
Chr4:82429511 [GRCh38] Chr4:83350664 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.352G>A (p.Val118Ile) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002923402] |
Chr4:82429339 [GRCh38] Chr4:83350492 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1193-16T>C |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002949128] |
Chr4:82426145 [GRCh38] Chr4:83347298 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.32C>G (p.Pro11Arg) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002667353] |
Chr4:82429659 [GRCh38] Chr4:83350812 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.307G>A (p.Ala103Thr) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002982724] |
Chr4:82429384 [GRCh38] Chr4:83350537 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.146C>T (p.Ser49Phe) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003025648] |
Chr4:82429545 [GRCh38] Chr4:83350698 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.284T>C (p.Ile95Thr) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002918329] |
Chr4:82429407 [GRCh38] Chr4:83350560 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.775-15G>A |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002642741] |
Chr4:82427579 [GRCh38] Chr4:83348732 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.35C>T (p.Pro12Leu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000639991] |
Chr4:82429656 [GRCh38] Chr4:83350809 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.550G>A (p.Val184Ile) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000639994] |
Chr4:82428340 [GRCh38] Chr4:83349493 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.147C>G (p.Ser49=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000639995] |
Chr4:82429544 [GRCh38] Chr4:83350697 [GRCh37] Chr4:4q21.22 |
likely benign |
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 |
copy number gain |
See cases [RCV000446653] |
Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) |
copy number gain |
See cases [RCV000510453] |
Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
NM_031372.4(HNRNPDL):c.840A>G (p.Thr280=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000536872]|not provided [RCV004716542] |
Chr4:82427499 [GRCh38] Chr4:83348652 [GRCh37] Chr4:4q21.22 |
benign |
NM_031372.4(HNRNPDL):c.332A>C (p.His111Pro) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000639987] |
Chr4:82429359 [GRCh38] Chr4:83350512 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.58G>C (p.Ala20Pro) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000639988] |
Chr4:82429633 [GRCh38] Chr4:83350786 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.248C>T (p.Pro83Leu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000639992]|not specified [RCV004025591] |
Chr4:82429443 [GRCh38] Chr4:83350596 [GRCh37] Chr4:4q21.22 |
likely benign|uncertain significance |
NM_031372.4(HNRNPDL):c.874G>A (p.Glu292Lys) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000639993] |
Chr4:82427465 [GRCh38] Chr4:83348618 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.443+10G>C |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001468393] |
Chr4:82429238 [GRCh38] Chr4:83350391 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.316C>A (p.Arg106=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000639989] |
Chr4:82429375 [GRCh38] Chr4:83350528 [GRCh37] Chr4:4q21.22 |
likely benign|uncertain significance |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 |
copy number gain |
See cases [RCV000512241] |
Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 |
copy number gain |
not provided [RCV000743147] |
Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
NM_031372.4(HNRNPDL):c.1193-4A>G |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV000801186] |
Chr4:82426133 [GRCh38] Chr4:83347286 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1193-9T>C |
single nucleotide variant |
not provided [RCV000926567] |
Chr4:82426138 [GRCh38] Chr4:83347291 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.39A>G (p.Pro13=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001467102] |
Chr4:82429652 [GRCh38] Chr4:83350805 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.980_1000del (p.Ala327_Gly333del) |
deletion |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003526066]|not provided [RCV001280692] |
Chr4:82427211..82427231 [GRCh38] Chr4:83348364..83348384 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.246C>T (p.Arg82=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV001426080] |
Chr4:82429445 [GRCh38] Chr4:83350598 [GRCh37] Chr4:4q21.22 |
likely benign |
NC_000004.12:g.67833055_82716065del |
deletion |
See cases [RCV003313802] |
Chr4:67833055..82716065 [GRCh38] Chr4:4q13.2-21.22 |
pathogenic |
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 |
copy number gain |
not provided [RCV001827738] |
Chr4:52866944..143582507 [GRCh37] Chr4:4q12-31.21 |
pathogenic |
NM_031372.4(HNRNPDL):c.99G>A (p.Arg33=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002142370] |
Chr4:82429592 [GRCh38] Chr4:83350745 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.1203C>T (p.Ser401=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002101466] |
Chr4:82426119 [GRCh38] Chr4:83347272 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.133C>G (p.Leu45Val) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002711579] |
Chr4:82429558 [GRCh38] Chr4:83350711 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.906+12T>C |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002663897] |
Chr4:82427421 [GRCh38] Chr4:83348574 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.845C>G (p.Thr282Ser) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002711164] |
Chr4:82427494 [GRCh38] Chr4:83348647 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1105C>G (p.Gln369Glu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003041748] |
Chr4:82426550 [GRCh38] Chr4:83347703 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1085A>G (p.Asn362Ser) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003526227]|not specified [RCV004148837] |
Chr4:82426570 [GRCh38] Chr4:83347723 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.734C>G (p.Ser245Cys) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002701156] |
Chr4:82428058 [GRCh38] Chr4:83349211 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.441C>T (p.Asp147=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002644274] |
Chr4:82429250 [GRCh38] Chr4:83350403 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.333C>G (p.His111Gln) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003058291] |
Chr4:82429358 [GRCh38] Chr4:83350511 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.6G>A (p.Glu2=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002894157] |
Chr4:82429685 [GRCh38] Chr4:83350838 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.45C>A (p.Phe15Leu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002801628] |
Chr4:82429646 [GRCh38] Chr4:83350799 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.338C>T (p.Pro113Leu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002640735]|not specified [RCV004072140] |
Chr4:82429353 [GRCh38] Chr4:83350506 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.939A>G (p.Val313=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003084836] |
Chr4:82427272 [GRCh38] Chr4:83348425 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.385A>G (p.Ile129Val) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002710810] |
Chr4:82429306 [GRCh38] Chr4:83350459 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1021+9T>C |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002700647] |
Chr4:82427181 [GRCh38] Chr4:83348334 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.747T>C (p.Ile249=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002871911] |
Chr4:82428045 [GRCh38] Chr4:83349198 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.29T>C (p.Val10Ala) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002711027] |
Chr4:82429662 [GRCh38] Chr4:83350815 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.989G>C (p.Gly330Ala) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003040620] |
Chr4:82427222 [GRCh38] Chr4:83348375 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.177C>A (p.Arg59=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003089953] |
Chr4:82429514 [GRCh38] Chr4:83350667 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.775-12T>C |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003088721] |
Chr4:82427576 [GRCh38] Chr4:83348729 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.10C>G (p.Pro4Ala) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003063899] |
Chr4:82429681 [GRCh38] Chr4:83350834 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.809_812del (p.Thr270fs) |
deletion |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003044083] |
Chr4:82427527..82427530 [GRCh38] Chr4:83348680..83348683 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.906+19T>C |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002633062] |
Chr4:82427414 [GRCh38] Chr4:83348567 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.83C>T (p.Ser28Phe) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002581566] |
Chr4:82429608 [GRCh38] Chr4:83350761 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.287A>G (p.Gln96Arg) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002647345] |
Chr4:82429404 [GRCh38] Chr4:83350557 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.153G>C (p.Arg51=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002599907] |
Chr4:82429538 [GRCh38] Chr4:83350691 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.831T>C (p.Cys277=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002857644] |
Chr4:82427508 [GRCh38] Chr4:83348661 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.443+13T>G |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002922618] |
Chr4:82429235 [GRCh38] Chr4:83350388 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.443+19C>T |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002671976] |
Chr4:82429229 [GRCh38] Chr4:83350382 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.123C>T (p.Leu41=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002746270] |
Chr4:82429568 [GRCh38] Chr4:83350721 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.444-15C>T |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002938359] |
Chr4:82428461 [GRCh38] Chr4:83349614 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.1021+7C>G |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002899085] |
Chr4:82427183 [GRCh38] Chr4:83348336 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.462C>T (p.Gly154=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003046956] |
Chr4:82428428 [GRCh38] Chr4:83349581 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.998G>A (p.Gly333Asp) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003031229] |
Chr4:82427213 [GRCh38] Chr4:83348366 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.293C>G (p.Ser98Cys) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003061874] |
Chr4:82429398 [GRCh38] Chr4:83350551 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.857C>T (p.Pro286Leu) |
single nucleotide variant |
not specified [RCV004123556] |
Chr4:82427482 [GRCh38] Chr4:83348635 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.117C>T (p.Ala39=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002647565] |
Chr4:82429574 [GRCh38] Chr4:83350727 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.213C>A (p.Gly71=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002716047] |
Chr4:82429478 [GRCh38] Chr4:83350631 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.95C>T (p.Pro32Leu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003050546] |
Chr4:82429596 [GRCh38] Chr4:83350749 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.19C>T (p.Leu7Phe) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003092779] |
Chr4:82429672 [GRCh38] Chr4:83350825 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1192+12_1192+13insG |
insertion |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002654306] |
Chr4:82426450..82426451 [GRCh38] Chr4:83347603..83347604 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.907-15G>A |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002582222] |
Chr4:82427319 [GRCh38] Chr4:83348472 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.153G>T (p.Arg51=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002942676] |
Chr4:82429538 [GRCh38] Chr4:83350691 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.56C>G (p.Pro19Arg) |
single nucleotide variant |
not specified [RCV004174056] |
Chr4:82429635 [GRCh38] Chr4:83350788 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.74G>A (p.Arg25His) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003069386] |
Chr4:82429617 [GRCh38] Chr4:83350770 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.248C>A (p.Pro83Gln) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003131149] |
Chr4:82429443 [GRCh38] Chr4:83350596 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.338del (p.Pro113fs) |
deletion |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003069034] |
Chr4:82429353 [GRCh38] Chr4:83350506 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.178C>T (p.His60Tyr) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002943820] |
Chr4:82429513 [GRCh38] Chr4:83350666 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.178C>G (p.His60Asp) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002611326] |
Chr4:82429513 [GRCh38] Chr4:83350666 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.654_657del (p.Asp219fs) |
deletion |
not provided [RCV004780925] |
Chr4:82428135..82428138 [GRCh38] Chr4:83349288..83349291 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.725C>T (p.Pro242Leu) |
single nucleotide variant |
not provided [RCV004792844] |
Chr4:82428067 [GRCh38] Chr4:83349220 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.328C>T (p.Gln110Ter) |
single nucleotide variant |
not specified [RCV003226863] |
Chr4:82429363 [GRCh38] Chr4:83350516 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.88T>G (p.Trp30Gly) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003135601] |
Chr4:82429603 [GRCh38] Chr4:83350756 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.101C>G (p.Pro34Arg) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003135602] |
Chr4:82429590 [GRCh38] Chr4:83350743 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.266_300del (p.His89fs) |
deletion |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003135603] |
Chr4:82429391..82429425 [GRCh38] Chr4:83350544..83350578 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.71C>A (p.Ser24Tyr) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005102601]|not specified [RCV004310682] |
Chr4:82429620 [GRCh38] Chr4:83350773 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.166C>T (p.Arg56Trp) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003525405]|not specified [RCV003404910] |
Chr4:82429525 [GRCh38] Chr4:83350678 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.552C>A (p.Val184=) |
single nucleotide variant |
not provided [RCV003435051] |
Chr4:82428338 [GRCh38] Chr4:83349491 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.325C>T (p.Arg109Cys) |
single nucleotide variant |
not provided [RCV003439361] |
Chr4:82429366 [GRCh38] Chr4:83350519 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.241C>G (p.Arg81Gly) |
single nucleotide variant |
not specified [RCV003388547] |
Chr4:82429450 [GRCh38] Chr4:83350603 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1251C>T (p.Tyr417=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003526795] |
Chr4:82426071 [GRCh38] Chr4:83347224 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.501C>T (p.Tyr167=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003525560] |
Chr4:82428389 [GRCh38] Chr4:83349542 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.791T>C (p.Leu264Pro) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003526903] |
Chr4:82427548 [GRCh38] Chr4:83348701 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.167_178dup (p.Arg59_His60insArgAlaGlnArg) |
duplication |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003527396] |
Chr4:82429512..82429513 [GRCh38] Chr4:83350665..83350666 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.535A>G (p.Ile179Val) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003527501] |
Chr4:82428355 [GRCh38] Chr4:83349508 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.297C>T (p.Ala99=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003526851] |
Chr4:82429394 [GRCh38] Chr4:83350547 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.258C>T (p.Phe86=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003527116] |
Chr4:82429433 [GRCh38] Chr4:83350586 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.923C>T (p.Ala308Val) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003526359] |
Chr4:82427288 [GRCh38] Chr4:83348441 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.978T>G (p.Gly326=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003527159] |
Chr4:82427233 [GRCh38] Chr4:83348386 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.15C>G (p.Pro5=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003882668] |
Chr4:82429676 [GRCh38] Chr4:83350829 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.209C>T (p.Ala70Val) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003486111] |
Chr4:82429482 [GRCh38] Chr4:83350635 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.279C>T (p.Ser93=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003525830] |
Chr4:82429412 [GRCh38] Chr4:83350565 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.231A>T (p.Gly77=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003526551] |
Chr4:82429460 [GRCh38] Chr4:83350613 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.46C>T (p.Pro16Ser) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003877614] |
Chr4:82429645 [GRCh38] Chr4:83350798 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.236G>C (p.Arg79Pro) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003527455] |
Chr4:82429455 [GRCh38] Chr4:83350608 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1022-17A>G |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003826558] |
Chr4:82426650 [GRCh38] Chr4:83347803 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.337C>G (p.Pro113Ala) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003526686] |
Chr4:82429354 [GRCh38] Chr4:83350507 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.169G>T (p.Ala57Ser) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003526258] |
Chr4:82429522 [GRCh38] Chr4:83350675 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.245G>C (p.Arg82Pro) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003526966] |
Chr4:82429446 [GRCh38] Chr4:83350599 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1192+18A>T |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003881140] |
Chr4:82426445 [GRCh38] Chr4:83347598 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.248C>G (p.Pro83Arg) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003526342] |
Chr4:82429443 [GRCh38] Chr4:83350596 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.907T>G (p.Cys303Gly) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003525661] |
Chr4:82427304 [GRCh38] Chr4:83348457 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.733T>C (p.Ser245Pro) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003526379] |
Chr4:82428059 [GRCh38] Chr4:83349212 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.628G>A (p.Glu210Lys) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003526382] |
Chr4:82428164 [GRCh38] Chr4:83349317 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.101_109dup (p.Arg36_Gln37insProProArg) |
duplication |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003526431] |
Chr4:82429581..82429582 [GRCh38] Chr4:83350734..83350735 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.450G>A (p.Met150Ile) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003526499] |
Chr4:82428440 [GRCh38] Chr4:83349593 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.443+20C>A |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003851230] |
Chr4:82429228 [GRCh38] Chr4:83350381 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.443+14C>G |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003849589] |
Chr4:82429234 [GRCh38] Chr4:83350387 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.1130A>G (p.Tyr377Cys) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003854501] |
Chr4:82426525 [GRCh38] Chr4:83347678 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.55C>T (p.Pro19Ser) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003642041] |
Chr4:82429636 [GRCh38] Chr4:83350789 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1094A>G (p.Tyr365Cys) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003640726] |
Chr4:82426561 [GRCh38] Chr4:83347714 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.789A>C (p.Glu263Asp) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003841993] |
Chr4:82427550 [GRCh38] Chr4:83348703 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.262C>T (p.Arg88Cys) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003642213]|not provided [RCV003885373] |
Chr4:82429429 [GRCh38] Chr4:83350582 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.443+9C>G |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003642247] |
Chr4:82429239 [GRCh38] Chr4:83350392 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.405A>G (p.Gly135=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003641138] |
Chr4:82429286 [GRCh38] Chr4:83350439 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.347G>C (p.Ser116Thr) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003641535] |
Chr4:82429344 [GRCh38] Chr4:83350497 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.31C>A (p.Pro11Thr) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003846806]|HNRNPDL-related disorder [RCV003939235] |
Chr4:82429660 [GRCh38] Chr4:83350813 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.297C>G (p.Ala99=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003641417] |
Chr4:82429394 [GRCh38] Chr4:83350547 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.937_938del (p.Val313fs) |
deletion |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003641612] |
Chr4:82427273..82427274 [GRCh38] Chr4:83348426..83348427 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1182A>G (p.Ala394=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003862582] |
Chr4:82426473 [GRCh38] Chr4:83347626 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.1239C>T (p.His413=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003642291] |
Chr4:82426083 [GRCh38] Chr4:83347236 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.221C>G (p.Ala74Gly) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003640651] |
Chr4:82429470 [GRCh38] Chr4:83350623 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.8T>C (p.Val3Ala) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003640659] |
Chr4:82429683 [GRCh38] Chr4:83350836 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.192G>A (p.Gln64=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003845945] |
Chr4:82429499 [GRCh38] Chr4:83350652 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.907-17A>G |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003641700] |
Chr4:82427321 [GRCh38] Chr4:83348474 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.131C>T (p.Ser44Leu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003872497] |
Chr4:82429560 [GRCh38] Chr4:83350713 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.243G>C (p.Arg81=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003863212] |
Chr4:82429448 [GRCh38] Chr4:83350601 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.36G>C (p.Pro12=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003640832] |
Chr4:82429655 [GRCh38] Chr4:83350808 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.12G>A (p.Pro4=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003641265] |
Chr4:82429679 [GRCh38] Chr4:83350832 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.325C>G (p.Arg109Gly) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003641528] |
Chr4:82429366 [GRCh38] Chr4:83350519 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.156G>C (p.Gln52His) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003640595] |
Chr4:82429535 [GRCh38] Chr4:83350688 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.304G>C (p.Ala102Pro) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003867257]|not specified [RCV004527014] |
Chr4:82429387 [GRCh38] Chr4:83350540 [GRCh37] Chr4:4q21.22 |
uncertain significance |
GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1 |
copy number loss |
not specified [RCV003986493] |
Chr4:81558759..95965995 [GRCh37] Chr4:4q21.21-22.3 |
pathogenic |
NM_031372.4(HNRNPDL):c.280T>C (p.Ser94Pro) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003641160]|not specified [RCV004927928] |
Chr4:82429411 [GRCh38] Chr4:83350564 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.123C>G (p.Leu41=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003641166] |
Chr4:82429568 [GRCh38] Chr4:83350721 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.852_854del (p.Glu285del) |
deletion |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003641848] |
Chr4:82427485..82427487 [GRCh38] Chr4:83348638..83348640 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1198C>G (p.Gln400Glu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003642210] |
Chr4:82426124 [GRCh38] Chr4:83347277 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.924A>G (p.Ala308=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003641898] |
Chr4:82427287 [GRCh38] Chr4:83348440 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.852A>G (p.Glu284=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003641967] |
Chr4:82427487 [GRCh38] Chr4:83348640 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.727G>A (p.Asp243Asn) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003642015] |
Chr4:82428065 [GRCh38] Chr4:83349218 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.338C>G (p.Pro113Arg) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003642060] |
Chr4:82429353 [GRCh38] Chr4:83350506 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1260C>T (p.Tyr420=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003642135] |
Chr4:82426062 [GRCh38] Chr4:83347215 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.336C>G (p.Pro112=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003640843] |
Chr4:82429355 [GRCh38] Chr4:83350508 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.315C>T (p.Thr105=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003640855] |
Chr4:82429376 [GRCh38] Chr4:83350529 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.612+19A>G |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003861096] |
Chr4:82428259 [GRCh38] Chr4:83349412 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.899C>T (p.Ser300Phe) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003861058] |
Chr4:82427440 [GRCh38] Chr4:83348593 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.984A>C (p.Ala328=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003844972] |
Chr4:82427227 [GRCh38] Chr4:83348380 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.995G>A (p.Arg332Gln) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003857580] |
Chr4:82427216 [GRCh38] Chr4:83348369 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.247C>T (p.Pro83Ser) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003641369] |
Chr4:82429444 [GRCh38] Chr4:83350597 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.855G>A (p.Glu285=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003641608] |
Chr4:82427484 [GRCh38] Chr4:83348637 [GRCh37] Chr4:4q21.22 |
likely benign |
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 |
copy number gain |
not provided [RCV003885507] |
Chr4:45455621..191003541 [GRCh37] Chr4:4p12-q35.2 |
pathogenic |
NM_031372.4(HNRNPDL):c.650T>G (p.Leu217Trp) |
single nucleotide variant |
not provided [RCV004590607] |
Chr4:82428142 [GRCh38] Chr4:83349295 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.266A>G (p.His89Arg) |
single nucleotide variant |
not specified [RCV004632933] |
Chr4:82429425 [GRCh38] Chr4:83350578 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.952C>T (p.Gln318Ter) |
single nucleotide variant |
not provided [RCV004599061] |
Chr4:82427259 [GRCh38] Chr4:83348412 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1157A>G (p.Asn386Ser) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005104957]|not provided [RCV004771112] |
Chr4:82426498 [GRCh38] Chr4:83347651 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.237C>T (p.Arg79=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005059882]|HNRNPDL-related disorder [RCV004757883] |
Chr4:82429454 [GRCh38] Chr4:83350607 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.1258T>C (p.Tyr420His) |
single nucleotide variant |
not provided [RCV004773786] |
Chr4:82426064 [GRCh38] Chr4:83347217 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.171C>T (p.Ala57=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005175602] |
Chr4:82429520 [GRCh38] Chr4:83350673 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.303_308del (p.Ala103_Ala104del) |
deletion |
not provided [RCV005054964] |
Chr4:82429383..82429388 [GRCh38] Chr4:83350536..83350541 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.299C>T (p.Ala100Val) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005172781] |
Chr4:82429392 [GRCh38] Chr4:83350545 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.415A>C (p.Asn139His) |
single nucleotide variant |
not specified [RCV004933577] |
Chr4:82429276 [GRCh38] Chr4:83350429 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.106C>T (p.Arg36Trp) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005145001] |
Chr4:82429585 [GRCh38] Chr4:83350738 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1058A>G (p.Tyr353Cys) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005060842] |
Chr4:82426597 [GRCh38] Chr4:83347750 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.982G>C (p.Ala328Pro) |
single nucleotide variant |
not specified [RCV004933578] |
Chr4:82427229 [GRCh38] Chr4:83348382 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.222_244del (p.Ile75fs) |
deletion |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005149922] |
Chr4:82429447..82429469 [GRCh38] Chr4:83350600..83350622 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.321T>C (p.Thr107=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005159542] |
Chr4:82429370 [GRCh38] Chr4:83350523 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.238A>C (p.Arg80=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005191491] |
Chr4:82429453 [GRCh38] Chr4:83350606 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.364G>T (p.Asp122Tyr) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005140445] |
Chr4:82429327 [GRCh38] Chr4:83350480 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.325C>A (p.Arg109Ser) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005187146] |
Chr4:82429366 [GRCh38] Chr4:83350519 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.240G>T (p.Arg80Ser) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005158766] |
Chr4:82429451 [GRCh38] Chr4:83350604 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.906+17A>C |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005136542] |
Chr4:82427416 [GRCh38] Chr4:83348569 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.113T>G (p.Leu38Arg) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005189132] |
Chr4:82429578 [GRCh38] Chr4:83350731 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.612G>A (p.Lys204=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005180314] |
Chr4:82428278 [GRCh38] Chr4:83349431 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.333C>T (p.His111=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005206418] |
Chr4:82429358 [GRCh38] Chr4:83350511 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.731C>T (p.Thr244Ile) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005176715] |
Chr4:82428061 [GRCh38] Chr4:83349214 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.18G>C (p.Arg6Ser) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005187276] |
Chr4:82429673 [GRCh38] Chr4:83350826 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.980C>T (p.Ala327Val) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005084435] |
Chr4:82427231 [GRCh38] Chr4:83348384 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.443+6G>T |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005207116] |
Chr4:82429242 [GRCh38] Chr4:83350395 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.308C>T (p.Ala103Val) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005117279] |
Chr4:82429383 [GRCh38] Chr4:83350536 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.336C>T (p.Pro112=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005181006] |
Chr4:82429355 [GRCh38] Chr4:83350508 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.762A>G (p.Gly254=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005078930] |
Chr4:82428030 [GRCh38] Chr4:83349183 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.159G>A (p.Gly53=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005142185] |
Chr4:82429532 [GRCh38] Chr4:83350685 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.552C>T (p.Val184=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005192035] |
Chr4:82428338 [GRCh38] Chr4:83349491 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.991_993dup (p.Gly331_Arg332insGly) |
duplication |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005078612] |
Chr4:82427217..82427218 [GRCh38] Chr4:83348370..83348371 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.113_115dup (p.Leu38_Ala39insVal) |
duplication |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005117517] |
Chr4:82429575..82429576 [GRCh38] Chr4:83350728..83350729 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1021+20A>C |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005186829] |
Chr4:82427170 [GRCh38] Chr4:83348323 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.907-11T>G |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005074886] |
Chr4:82427315 [GRCh38] Chr4:83348468 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.300C>T (p.Ala100=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005083412] |
Chr4:82429391 [GRCh38] Chr4:83350544 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.263G>A (p.Arg88His) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005121950] |
Chr4:82429428 [GRCh38] Chr4:83350581 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.1142G>A (p.Gly381Glu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005203316] |
Chr4:82426513 [GRCh38] Chr4:83347666 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.613-4G>T |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005188859] |
Chr4:82428183 [GRCh38] Chr4:83349336 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.292T>C (p.Ser98Pro) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005192361] |
Chr4:82429399 [GRCh38] Chr4:83350552 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.158G>T (p.Gly53Val) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005079401] |
Chr4:82429533 [GRCh38] Chr4:83350686 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.104C>G (p.Pro35Arg) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005140175] |
Chr4:82429587 [GRCh38] Chr4:83350740 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.343G>A (p.Asp115Asn) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005083538] |
Chr4:82429348 [GRCh38] Chr4:83350501 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.41T>C (p.Leu14Ser) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005156785] |
Chr4:82429650 [GRCh38] Chr4:83350803 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.242G>A (p.Arg81Gln) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005189285] |
Chr4:82429449 [GRCh38] Chr4:83350602 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.120G>T (p.Pro40=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005149383] |
Chr4:82429571 [GRCh38] Chr4:83350724 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.151C>A (p.Arg51=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005178869] |
Chr4:82429540 [GRCh38] Chr4:83350693 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.335C>T (p.Pro112Leu) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005183615] |
Chr4:82429356 [GRCh38] Chr4:83350509 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.995G>C (p.Arg332Pro) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005200009] |
Chr4:82427216 [GRCh38] Chr4:83348369 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.52G>A (p.Ala18Thr) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005068888] |
Chr4:82429639 [GRCh38] Chr4:83350792 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.135C>T (p.Leu45=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005072542] |
Chr4:82429556 [GRCh38] Chr4:83350709 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.71C>G (p.Ser24Cys) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005177382] |
Chr4:82429620 [GRCh38] Chr4:83350773 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.393A>G (p.Glu131=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005113108] |
Chr4:82429298 [GRCh38] Chr4:83350451 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.51C>T (p.Ser17=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005073984] |
Chr4:82429640 [GRCh38] Chr4:83350793 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.945G>A (p.Arg315=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV005070344] |
Chr4:82427266 [GRCh38] Chr4:83348419 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.322G>A (p.Ala108Thr) |
single nucleotide variant |
not specified [RCV004399790] |
Chr4:82429369 [GRCh38] Chr4:83350522 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.246C>A (p.Arg82=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002574652] |
Chr4:82429445 [GRCh38] Chr4:83350598 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.244C>T (p.Arg82Cys) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003091203] |
Chr4:82429447 [GRCh38] Chr4:83350600 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.885C>T (p.Tyr295=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003090829] |
Chr4:82427454 [GRCh38] Chr4:83348607 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.135C>G (p.Leu45=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002900126] |
Chr4:82429556 [GRCh38] Chr4:83350709 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.1248T>C (p.Asn416=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002898960] |
Chr4:82426074 [GRCh38] Chr4:83347227 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.868T>C (p.Leu290=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV002943651] |
Chr4:82427471 [GRCh38] Chr4:83348624 [GRCh37] Chr4:4q21.22 |
likely benign |
GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1 |
copy number loss |
Chromosome 4q21 deletion syndrome [RCV003327709] |
Chr4:79123548..99457773 [GRCh38] Chr4:4q21.21-23 |
pathogenic |
NM_031372.4(HNRNPDL):c.960A>G (p.Gln320=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003837788] |
Chr4:82427251 [GRCh38] Chr4:83348404 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.30G>A (p.Val10=) |
single nucleotide variant |
Autosomal dominant limb-girdle muscular dystrophy type 1G [RCV003854281] |
Chr4:82429661 [GRCh38] Chr4:83350814 [GRCh37] Chr4:4q21.22 |
likely benign |
NM_031372.4(HNRNPDL):c.333C>A (p.His111Gln) |
single nucleotide variant |
not specified [RCV004399791] |
Chr4:82429358 [GRCh38] Chr4:83350511 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.59C>T (p.Ala20Val) |
single nucleotide variant |
not specified [RCV004399792] |
Chr4:82429632 [GRCh38] Chr4:83350785 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.98G>C (p.Arg33Pro) |
single nucleotide variant |
not specified [RCV004399793] |
Chr4:82429593 [GRCh38] Chr4:83350746 [GRCh37] Chr4:4q21.22 |
uncertain significance |
NM_031372.4(HNRNPDL):c.148G>T (p.Ala50Ser) |
single nucleotide variant |
not specified [RCV004399789] |
Chr4:82429543 [GRCh38] Chr4:83350696 [GRCh37] Chr4:4q21.22 |
uncertain significance |