NM_000344.4(SMN1):c.419A>T (p.Asp140Val) |
single nucleotide variant |
Spinal muscular atrophy [RCV000797472]|not provided [RCV000785809]|not specified [RCV000516973] |
Chr5:70942503 [GRCh38] Chr5:70238330 [GRCh37] Chr5:5q13.2 |
pathogenic|uncertain significance |
NC_000005.10:g.(?_70951921)_(70952011_?)del |
deletion |
Spinal muscular atrophy [RCV000554972] |
Chr5:70951921..70952011 [GRCh38] Chr5:70247748..70247838 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.683T>A (p.Leu228Ter) |
single nucleotide variant |
not provided [RCV000516476] |
Chr5:70944713 [GRCh38] Chr5:70240540 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.93_96dup (p.Ile33Ter) |
duplication |
not provided [RCV000516576] |
Chr5:70938848..70938849 [GRCh38] Chr5:70234675..70234676 [GRCh37] Chr5:5q13.2 |
pathogenic|likely pathogenic |
NM_000344.4(SMN1):c.389A>G (p.Tyr130Cys) |
single nucleotide variant |
Kugelberg-Welander disease [RCV000032708] |
Chr5:70942473 [GRCh38] Chr5:70238300 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.388T>C (p.Tyr130His) |
single nucleotide variant |
Kugelberg-Welander disease [RCV000032709] |
Chr5:70942472 [GRCh38] Chr5:70238299 [GRCh37] Chr5:5q13.2 |
pathogenic |
NC_000005.10:g.(?_70924941)_(70966375_?)del |
deletion |
Kugelberg-Welander disease [RCV000032710] |
Chr5:70924941..70966375 [GRCh38] Chr5:5q13.2 |
pathogenic |
SMN1, 11-BP DUP, 801-811 |
duplication |
Werdnig-Hoffmann disease [RCV000009733] |
Chr5:5q12.2-q13.3 |
pathogenic |
NM_000344.4(SMN1):c.821C>T (p.Thr274Ile) |
single nucleotide variant |
Kugelberg-Welander disease [RCV000009735]|Spinal muscular atrophy, type II [RCV000009734]|not provided [RCV000517430] |
Chr5:70946163 [GRCh38] Chr5:70241990 [GRCh37] Chr5:5q13.2 |
pathogenic|conflicting interpretations of pathogenicity |
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile) |
single nucleotide variant |
Kugelberg-Welander disease [RCV000009736]|not provided [RCV000713373] |
Chr5:70946127 [GRCh38] Chr5:70241954 [GRCh37] Chr5:5q13.2 |
pathogenic|likely pathogenic |
NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys) |
single nucleotide variant |
Spinal muscular atrophy [RCV002470706]|Werdnig-Hoffmann disease [RCV000009737]|not provided [RCV000518253] |
Chr5:70946157 [GRCh38] Chr5:70241984 [GRCh37] Chr5:5q13.2 |
pathogenic|likely pathogenic |
NM_000344.4(SMN1):c.836G>T (p.Gly279Val) |
single nucleotide variant |
Werdnig-Hoffmann disease [RCV000009738] |
Chr5:70951942 [GRCh38] Chr5:70247769 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.5C>G (p.Ala2Gly) |
single nucleotide variant |
Kugelberg-Welander disease [RCV000009740]|Spinal muscular atrophy, type II [RCV000009739]|not provided [RCV000517884] |
Chr5:70925108 [GRCh38] Chr5:70220935 [GRCh37] Chr5:5q13.2 |
pathogenic |
NG_008691.1:g.(32498_32055)_(33073_?)del |
deletion |
Kugelberg-Welander disease [RCV000009742]|Spinal muscular atrophy, type II [RCV000009741] |
Chr5:5q12.2-q13.3 |
pathogenic |
NM_000344.4(SMN1):c.834+6T>G |
single nucleotide variant |
Kugelberg-Welander disease [RCV000009743] |
Chr5:70946182 [GRCh38] Chr5:70242009 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.439_443del (p.Glu147fs) |
deletion |
Werdnig-Hoffmann disease [RCV000009744] |
Chr5:70942521..70942525 [GRCh38] Chr5:70238348..70238352 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.131A>T (p.Asp44Val) |
single nucleotide variant |
Kugelberg-Welander disease [RCV000009745] |
Chr5:70938888 [GRCh38] Chr5:70234715 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.305G>A (p.Trp102Ter) |
single nucleotide variant |
Kugelberg-Welander disease [RCV000009747]|Spinal muscular atrophy, type II [RCV000009746]|not provided [RCV000785813] |
Chr5:70942389 [GRCh38] Chr5:70238216 [GRCh37] Chr5:5q13.2 |
pathogenic |
SMN1, 4-BP DEL, 399AGAG |
deletion |
Werdnig-Hoffmann disease [RCV000009748]|Spinal muscular atrophy, type II [RCV000009749]|Kugelberg-Welander disease [RCV000009750]|Spinal muscular atrophy type 4 [RCV000009751] |
Chr5:5q12.2-q13.3 |
pathogenic |
NM_000344.4(SMN1):c.88G>A (p.Asp30Asn) |
single nucleotide variant |
Spinal muscular atrophy, type II [RCV000009752] |
Chr5:70938845 [GRCh38] Chr5:70234672 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.283G>C (p.Gly95Arg) |
single nucleotide variant |
Kugelberg-Welander disease [RCV000009753]|not provided [RCV000785814] |
Chr5:70942367 [GRCh38] Chr5:70238194 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.332C>G (p.Ala111Gly) |
single nucleotide variant |
Spinal muscular atrophy, type II [RCV000009755]|Werdnig-Hoffmann disease [RCV000009754]|not provided [RCV000785810] |
Chr5:70942416 [GRCh38] Chr5:70238243 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.784A>G (p.Ser262Gly) |
single nucleotide variant |
Kugelberg-Welander disease [RCV000009756] |
Chr5:70946126 [GRCh38] Chr5:70241953 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.346A>T (p.Ile116Phe) |
single nucleotide variant |
Werdnig-Hoffmann disease [RCV000009757]|not provided [RCV002472926] |
Chr5:70942430 [GRCh38] Chr5:70238257 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.406C>G (p.Gln136Glu) |
single nucleotide variant |
Werdnig-Hoffmann disease [RCV000009758] |
Chr5:70942490 [GRCh38] Chr5:70238317 [GRCh37] Chr5:5q13.2 |
pathogenic |
GRCh38/hg38 5q13.2(chr5:69942850-70951975)x3 |
copy number gain |
See cases [RCV000133906] |
Chr5:69942850..70951975 [GRCh38] Chr5:69238677..70247802 [GRCh37] Chr5:69274433..70283558 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:69942850-70951975)x1 |
copy number loss |
See cases [RCV000133907] |
Chr5:69942850..70951975 [GRCh38] Chr5:69238677..70247802 [GRCh37] Chr5:69274433..70283558 [NCBI36] Chr5:5q13.2 |
benign |
NM_000344.4(SMN1):c.818A>T (p.His273Leu) |
single nucleotide variant |
not provided [RCV000785806]|not specified [RCV000516182] |
Chr5:70946160 [GRCh38] Chr5:70241987 [GRCh37] Chr5:5q13.2 |
likely pathogenic|uncertain significance |
NM_000344.4(SMN1):c.135dup (p.Ala46fs) |
duplication |
not provided [RCV000516388] |
Chr5:70938889..70938890 [GRCh38] Chr5:70234716..70234717 [GRCh37] Chr5:5q13.2 |
likely pathogenic |
NM_000344.4(SMN1):c.84C>T (p.Ser28=) |
single nucleotide variant |
not provided [RCV000518335] |
Chr5:70938841 [GRCh38] Chr5:70234668 [GRCh37] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:69942850-71291191)x1 |
copy number loss |
See cases [RCV000050307] |
Chr5:69942850..71291191 [GRCh38] Chr5:69238677..70587018 [GRCh37] Chr5:69274433..70622774 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:70436365-71291191)x1 |
copy number loss |
See cases [RCV000050267] |
Chr5:70436365..71291191 [GRCh38] Chr5:69732192..70587018 [GRCh37] Chr5:69767948..70622774 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:70436365-71090773)x3 |
copy number gain |
See cases [RCV000050949] |
Chr5:70436365..71090773 [GRCh38] Chr5:69732192..70386600 [GRCh37] Chr5:69767948..70422356 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:70436365-71090773)x1 |
copy number loss |
See cases [RCV000050950] |
Chr5:70436365..71090773 [GRCh38] Chr5:69732192..70386600 [GRCh37] Chr5:69767948..70422356 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:70436365-71420835)x1 |
copy number loss |
See cases [RCV000050656] |
Chr5:70436365..71420835 [GRCh38] Chr5:69732192..70716662 [GRCh37] Chr5:69767948..70752418 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:69942850-71014028)x1 |
copy number loss |
See cases [RCV000051033] |
Chr5:69942850..71014028 [GRCh38] Chr5:69238677..70309855 [GRCh37] Chr5:69274433..70345611 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:70436365-71014028)x1 |
copy number loss |
See cases [RCV000051004] |
Chr5:70436365..71014028 [GRCh38] Chr5:69732192..70309855 [GRCh37] Chr5:69767948..70345611 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:70547802-71291191)x1 |
copy number loss |
See cases [RCV000133882] |
Chr5:70547802..71291191 [GRCh38] Chr5:69843629..70587018 [GRCh37] Chr5:69879385..70622774 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:70436365-71291191)x3 |
copy number gain |
See cases [RCV000133630] |
Chr5:70436365..71291191 [GRCh38] Chr5:69732192..70587018 [GRCh37] Chr5:69767948..70622774 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:69942850-71090773)x3 |
copy number gain |
See cases [RCV000133739] |
Chr5:69942850..71090773 [GRCh38] Chr5:69238677..70386600 [GRCh37] Chr5:69274433..70422356 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:69942850-71090773)x1 |
copy number loss |
See cases [RCV000133740] |
Chr5:69942850..71090773 [GRCh38] Chr5:69238677..70386600 [GRCh37] Chr5:69274433..70422356 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:69942850-71291191)x3 |
copy number gain |
See cases [RCV000133668] |
Chr5:69942850..71291191 [GRCh38] Chr5:69238677..70587018 [GRCh37] Chr5:69274433..70622774 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:69942862-71291192)x1 |
copy number loss |
See cases [RCV000134722] |
Chr5:69942862..71291192 [GRCh38] Chr5:69238689..70587019 [GRCh37] Chr5:69274445..70622775 [NCBI36] Chr5:5q13.2 |
benign|likely benign|conflicting data from submitters |
GRCh38/hg38 5q13.2(chr5:70547824-71291192)x1 |
copy number loss |
See cases [RCV000134735] |
Chr5:70547824..71291192 [GRCh38] Chr5:69843651..70587019 [GRCh37] Chr5:69879407..70622775 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:69640103-71317302)x1 |
copy number loss |
See cases [RCV000134042] |
Chr5:69640103..71317302 [GRCh38] Chr5:68935930..70613129 [GRCh37] Chr5:68971686..70648885 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:70547802-71090773)x3 |
copy number gain |
See cases [RCV000133949] |
Chr5:70547802..71090773 [GRCh38] Chr5:69843629..70386600 [GRCh37] Chr5:69879385..70422356 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:69942862-71032915)x3 |
copy number gain |
See cases [RCV000134133] |
Chr5:69942862..71032915 [GRCh38] Chr5:69238689..70328742 [GRCh37] Chr5:69274445..70364498 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:70076645-71291191)x3 |
copy number gain |
See cases [RCV000133989] |
Chr5:70076645..71291191 [GRCh38] Chr5:69372472..70587018 [GRCh37] Chr5:69408228..70622774 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:69942850-71032915)x3 |
copy number gain |
See cases [RCV000133993] |
Chr5:69942850..71032915 [GRCh38] Chr5:69238677..70328742 [GRCh37] Chr5:69274433..70364498 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:69942850-71032915)x1 |
copy number loss |
See cases [RCV000133994] |
Chr5:69942850..71032915 [GRCh38] Chr5:69238677..70328742 [GRCh37] Chr5:69274433..70364498 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:69942862-71090767)x1 |
copy number loss |
See cases [RCV000134781] |
Chr5:69942862..71090767 [GRCh38] Chr5:69238689..70386594 [GRCh37] Chr5:69274445..70422350 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:70076623-71032915)x1 |
copy number loss |
See cases [RCV000134788] |
Chr5:70076623..71032915 [GRCh38] Chr5:69372450..70328742 [GRCh37] Chr5:69408206..70364498 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:69942862-70952001)x1 |
copy number loss |
See cases [RCV000134821] |
Chr5:69942862..70952001 [GRCh38] Chr5:69238689..70247828 [GRCh37] Chr5:69274445..70283584 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3 |
copy number gain |
See cases [RCV000135640] |
Chr5:63207112..71291191 [GRCh38] Chr5:62502939..70587018 [GRCh37] Chr5:62538695..70622774 [NCBI36] Chr5:5q12.1-13.2 |
likely pathogenic |
GRCh38/hg38 5q13.2(chr5:70130451-71013999)x1 |
copy number loss |
See cases [RCV000136221] |
Chr5:70130451..71013999 [GRCh38] Chr5:69426278..70309826 [GRCh37] Chr5:69462034..70345582 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:70436335-71291192)x3 |
copy number gain |
See cases [RCV000136109] |
Chr5:70436335..71291192 [GRCh38] Chr5:69732162..70587019 [GRCh37] Chr5:69767918..70622775 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:70409765-71090744)x3 |
copy number gain |
See cases [RCV000136178] |
Chr5:70409765..71090744 [GRCh38] Chr5:69705592..70386571 [GRCh37] Chr5:69741348..70422327 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:70076623-71291192)x1 |
copy number loss |
See cases [RCV000135980] |
Chr5:70076623..71291192 [GRCh38] Chr5:69372450..70587019 [GRCh37] Chr5:69408206..70622775 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:70436335-71090767)x3 |
copy number gain |
See cases [RCV000138779] |
Chr5:70436335..71090767 [GRCh38] Chr5:69732162..70386594 [GRCh37] Chr5:69767918..70422350 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 |
copy number gain |
See cases [RCV000138780] |
Chr5:22149..74412725 [GRCh38] Chr5:22149..73708550 [GRCh37] Chr5:75149..73744306 [NCBI36] Chr5:5p15.33-q13.3 |
pathogenic |
GRCh38/hg38 5q13.2(chr5:69568368-71317498)x1 |
copy number loss |
See cases [RCV000139062] |
Chr5:69568368..71317498 [GRCh38] Chr5:68864195..70613325 [GRCh37] Chr5:68899951..70649081 [NCBI36] Chr5:5q13.2 |
likely benign |
GRCh38/hg38 5q13.2(chr5:70076623-71090767)x3 |
copy number gain |
See cases [RCV000138930] |
Chr5:70076623..71090767 [GRCh38] Chr5:69372450..70386594 [GRCh37] Chr5:69408206..70422350 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:70951942-71291192)x1 |
copy number loss |
See cases [RCV000139741] |
Chr5:70951942..71291192 [GRCh38] Chr5:70247769..70587019 [GRCh37] Chr5:70283525..70622775 [NCBI36] Chr5:5q13.2 |
benign|likely benign|conflicting data from submitters |
GRCh38/hg38 5q13.2(chr5:69553776-71317498)x1 |
copy number loss |
See cases [RCV000139478] |
Chr5:69553776..71317498 [GRCh38] Chr5:68849603..70613325 [GRCh37] Chr5:68885359..70649081 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:69495443-71032915)x1 |
copy number loss |
See cases [RCV000139586] |
Chr5:69495443..71032915 [GRCh38] Chr5:68791270..70328742 [GRCh37] Chr5:68827026..70364498 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:70076645-71090773)x1 |
copy number loss |
See cases [RCV000141506] |
Chr5:70076645..71090773 [GRCh38] Chr5:69372472..70386600 [GRCh37] Chr5:69408228..70422356 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:70076645-71291191)x3 |
copy number gain |
See cases [RCV000141526] |
Chr5:70076645..71291191 [GRCh38] Chr5:69372472..70587018 [GRCh37] Chr5:69408228..70622774 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:70076645-70951975)x3 |
copy number gain |
See cases [RCV000142384] |
Chr5:70076645..70951975 [GRCh38] Chr5:69372472..70247802 [GRCh37] Chr5:69408228..70283558 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:70076645-70951975)x1 |
copy number loss |
See cases [RCV000142385] |
Chr5:70076645..70951975 [GRCh38] Chr5:69372472..70247802 [GRCh37] Chr5:69408228..70283558 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:69679482-71317302)x1 |
copy number loss |
See cases [RCV000142408] |
Chr5:69679482..71317302 [GRCh38] Chr5:68975309..70613129 [GRCh37] Chr5:69011065..70648885 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:69942862-71291192)x3 |
copy number gain |
See cases [RCV000142474] |
Chr5:69942862..71291192 [GRCh38] Chr5:69238689..70587019 [GRCh37] Chr5:69274445..70622775 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:69679482-71193646)x3 |
copy number gain |
See cases [RCV000142419] |
Chr5:69679482..71193646 [GRCh38] Chr5:68975309..70489473 [GRCh37] Chr5:69011065..70525229 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:69942862-71090767)x3 |
copy number gain |
See cases [RCV000142485] |
Chr5:69942862..71090767 [GRCh38] Chr5:69238689..70386594 [GRCh37] Chr5:69274445..70422350 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q13.2(chr5:69942862-71032915)x1 |
copy number loss |
See cases [RCV000142437] |
Chr5:69942862..71032915 [GRCh38] Chr5:69238689..70328742 [GRCh37] Chr5:69274445..70364498 [NCBI36] Chr5:5q13.2 |
benign |
GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3 |
copy number gain |
See cases [RCV000142796] |
Chr5:65976124..71317474 [GRCh38] Chr5:65271952..70613301 [GRCh37] Chr5:65307708..70649057 [NCBI36] Chr5:5q12.3-13.2 |
uncertain significance |
GRCh38/hg38 5q13.2(chr5:69942850-71291191)x1 |
copy number loss |
See cases [RCV000148259] |
Chr5:69942850..71291191 [GRCh38] Chr5:69238677..70587018 [GRCh37] Chr5:69274433..70622774 [NCBI36] Chr5:5q13.2 |
pathogenic|likely pathogenic|benign |
GRCh38/hg38 5q13.2(chr5:70436365-71291191)x1 |
copy number loss |
See cases [RCV000148187] |
Chr5:70436365..71291191 [GRCh38] Chr5:69732192..70587018 [GRCh37] Chr5:69767948..70622774 [NCBI36] Chr5:5q13.2 |
benign |
NC_000005.10:g.70946066_70946176del |
deletion |
Spinal muscular atrophy, type II [RCV000496588] |
Chr5:70946065..70946175 [GRCh38] Chr5:70241892..70242002 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.835-17C>T |
single nucleotide variant |
not specified [RCV001269245] |
Chr5:70951924 [GRCh38] Chr5:70247751 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.803A>G (p.Tyr268Cys) |
single nucleotide variant |
Spinal muscular atrophy [RCV002272276]|not specified [RCV000517381] |
Chr5:70946145 [GRCh38] Chr5:70241972 [GRCh37] Chr5:5q13.2 |
likely pathogenic|uncertain significance |
NM_000344.4(SMN1):c.841A>C (p.Arg281=) |
single nucleotide variant |
Spinal muscular atrophy [RCV002530902]|not specified [RCV000587111] |
Chr5:70951947 [GRCh38] Chr5:70247774 [GRCh37] Chr5:5q13.2 |
likely benign|uncertain significance |
NM_000344.4(SMN1):c.835-24T>G |
single nucleotide variant |
not provided [RCV000587253] |
Chr5:70951917 [GRCh38] Chr5:70247744 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.865T>A (p.Cys289Ser) |
single nucleotide variant |
Spinal muscular atrophy, type II [RCV002497232]|not specified [RCV000588115] |
Chr5:70951971 [GRCh38] Chr5:70247798 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.835-8C>A |
single nucleotide variant |
not specified [RCV000588233] |
Chr5:70951933 [GRCh38] Chr5:70247760 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.835-15T>G |
single nucleotide variant |
not specified [RCV000588786] |
Chr5:70951926 [GRCh38] Chr5:70247753 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.835-24T>A |
single nucleotide variant |
not provided [RCV000589272] |
Chr5:70951917 [GRCh38] Chr5:70247744 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.840C>G (p.Phe280Leu) |
single nucleotide variant |
not provided [RCV000589012] |
Chr5:70951946 [GRCh38] Chr5:70247773 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.835-29T>G |
single nucleotide variant |
not specified [RCV000589140] |
Chr5:70951912 [GRCh38] Chr5:70247739 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.835-28T>C |
single nucleotide variant |
not provided [RCV000590673] |
Chr5:70951913 [GRCh38] Chr5:70247740 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.835-18C>T |
single nucleotide variant |
not specified [RCV000590791] |
Chr5:70951923 [GRCh38] Chr5:70247750 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.835-14T>A |
single nucleotide variant |
not provided [RCV000586757] |
Chr5:70951927 [GRCh38] Chr5:70247754 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.835-96A>G |
single nucleotide variant |
not provided [RCV001571040] |
Chr5:70951845 [GRCh38] Chr5:70247672 [GRCh37] Chr5:5q13.2 |
likely benign |
GRCh37/hg19 5q13.2(chr5:68728731-68849653)x3 |
copy number gain |
not specified [RCV000453642] |
Chr5:68728731..68849653 [GRCh37] Chr5:5q13.2 |
likely benign |
GRCh37/hg19 5q12.1-13.2(chr5:60722469-70792199)x1 |
copy number loss |
See cases [RCV000447549] |
Chr5:60722469..70792199 [GRCh37] Chr5:5q12.1-13.2 |
pathogenic |
NM_000344.4(SMN1):c.460C>T (p.Gln154Ter) |
single nucleotide variant |
not provided [RCV000713370] |
Chr5:70942544 [GRCh38] Chr5:70238371 [GRCh37] Chr5:5q13.2 |
likely pathogenic |
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 |
copy number loss |
See cases [RCV000511978] |
Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 |
copy number gain |
See cases [RCV000512039] |
Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) |
copy number gain |
See cases [RCV000510723] |
Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
NM_000344.4(SMN1):c.855dup (p.Glu286fs) |
duplication |
Spinal muscular atrophy [RCV000586101] |
Chr5:70951956..70951957 [GRCh38] Chr5:70247783..70247784 [GRCh37] Chr5:5q13.2 |
likely pathogenic |
NM_000344.4(SMN1):c.835-3C>T |
single nucleotide variant |
Spinal muscular atrophy [RCV000798141]|Spinal muscular atrophy, type IV [RCV000785808]|not provided [RCV000586221]|not specified [RCV001290445] |
Chr5:70951938 [GRCh38] Chr5:70247765 [GRCh37] Chr5:5q13.2 |
pathogenic|uncertain significance |
NM_000344.4(SMN1):c.835-4dup |
duplication |
Spinal muscular atrophy [RCV000632189]|not specified [RCV001175473] |
Chr5:70951936..70951937 [GRCh38] Chr5:70247763..70247764 [GRCh37] Chr5:5q13.2 |
likely benign|uncertain significance |
NM_000344.4(SMN1):c.462A>G (p.Gln154=) |
single nucleotide variant |
Spinal muscular atrophy [RCV001079364]|not provided [RCV000713371]|not specified [RCV001261639] |
Chr5:70942546 [GRCh38] Chr5:70238373 [GRCh37] Chr5:5q13.2 |
benign|likely benign |
NC_000005.10:g.(?_70951941)_(70951991_?)del |
deletion |
Spinal muscular atrophy [RCV000707749] |
Chr5:70951941..70951991 [GRCh38] Chr5:70247768..70247818 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.109dup (p.Thr37fs) |
duplication |
not provided [RCV000713369] |
Chr5:70938865..70938866 [GRCh38] Chr5:70234692..70234693 [GRCh37] Chr5:5q13.2 |
likely pathogenic |
NM_000344.4(SMN1):c.840C>T (p.Phe280=) |
single nucleotide variant |
Spinal muscular atrophy [RCV001249781]|Werdnig-Hoffmann disease [RCV000768448]|not provided [RCV000713374] |
Chr5:70951946 [GRCh38] Chr5:70247773 [GRCh37] Chr5:5q13.2 |
pathogenic|benign |
NM_000344.4(SMN1):c.770_780dup (p.Gly261fs) |
duplication |
Werdnig-Hoffmann disease [RCV000785794]|not provided [RCV000713372] |
Chr5:70946109..70946110 [GRCh38] Chr5:70241936..70241937 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.835-21_*3+17del |
deletion |
Spinal muscular atrophy [RCV000692613] |
Chr5:70951920..70952011 [GRCh38] Chr5:70247747..70247838 [GRCh37] Chr5:5q13.2 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 |
copy number gain |
not provided [RCV000744323] |
Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 |
copy number gain |
not provided [RCV000744317] |
Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
NC_000005.10:g.69553767_71361920dup |
duplication |
Primary amenorrhea [RCV000754422] |
Chr5:69553767..71361920 [GRCh38] Chr5:68849594..70657747 [GRCh37] Chr5:5q13.2 |
benign |
NC_000005.9:g.69741318_70422356del681039 |
deletion |
Primary amenorrhea [RCV000754423] |
Chr5:70445491..71126529 [GRCh38] Chr5:69741318..70422356 [GRCh37] Chr5:5q13.2 |
benign |
NC_000005.9:g.69767948_70345611del577664 |
deletion |
Primary amenorrhea [RCV000754424] |
Chr5:70472121..71049784 [GRCh38] Chr5:69767948..70345611 [GRCh37] Chr5:5q13.2 |
benign |
NC_000005.9:g.68818173_70657747del1839575 |
deletion |
Primary amenorrhea [RCV000754421] |
Chr5:69522346..71361920 [GRCh38] Chr5:68818173..70657747 [GRCh37] Chr5:5q13.2 |
benign |
GRCh37/hg19 5q13.1-13.2(chr5:68278453-70369959)x3 |
copy number gain |
not provided [RCV000754758] |
Chr5:68278453..70369959 [GRCh37] Chr5:5q13.1-13.2 |
uncertain significance |
GRCh37/hg19 5q13.2(chr5:68850595-70636542)x1 |
copy number loss |
not provided [RCV000744785] |
Chr5:68850595..70636542 [GRCh37] Chr5:5q13.2 |
uncertain significance |
GRCh37/hg19 5q13.2(chr5:68930016-70840233)x3 |
copy number gain |
not provided [RCV000744786] |
Chr5:68930016..70840233 [GRCh37] Chr5:5q13.2 |
benign |
GRCh37/hg19 5q13.2(chr5:69306245-70689452)x1 |
copy number loss |
not provided [RCV000744793] |
Chr5:69306245..70689452 [GRCh37] Chr5:5q13.2 |
benign |
GRCh37/hg19 5q13.2(chr5:69971478-70308251)x1 |
copy number loss |
not provided [RCV000744807] |
Chr5:69971478..70308251 [GRCh37] Chr5:5q13.2 |
benign |
GRCh37/hg19 5q13.2(chr5:70118846-70476393)x1 |
copy number loss |
not provided [RCV000744808] |
Chr5:70118846..70476393 [GRCh37] Chr5:5q13.2 |
benign |
GRCh37/hg19 5q13.2(chr5:70120134-70261703)x1 |
copy number loss |
not provided [RCV000744809] |
Chr5:70120134..70261703 [GRCh37] Chr5:5q13.2 |
benign |
GRCh37/hg19 5q13.2(chr5:70121185-70291250)x1 |
copy number loss |
not provided [RCV000744810] |
Chr5:70121185..70291250 [GRCh37] Chr5:5q13.2 |
benign |
GRCh37/hg19 5q13.2(chr5:70124209-70260103)x1 |
copy number loss |
not provided [RCV000744811] |
Chr5:70124209..70260103 [GRCh37] Chr5:5q13.2 |
benign |
GRCh37/hg19 5q13.2(chr5:70124209-70287858)x1 |
copy number loss |
not provided [RCV000744812] |
Chr5:70124209..70287858 [GRCh37] Chr5:5q13.2 |
benign |
GRCh37/hg19 5q13.2(chr5:70209502-70291250)x1 |
copy number loss |
not provided [RCV000744813] |
Chr5:70209502..70291250 [GRCh37] Chr5:5q13.2 |
benign |
GRCh37/hg19 5q13.2(chr5:70244977-70406536)x1 |
copy number loss |
not provided [RCV000744814] |
Chr5:70244977..70406536 [GRCh37] Chr5:5q13.2 |
benign |
GRCh37/hg19 5q13.2(chr5:70245745-70400449)x1 |
copy number loss |
not provided [RCV000744815] |
Chr5:70245745..70400449 [GRCh37] Chr5:5q13.2 |
benign |
NM_000344.4(SMN1):c.82-2548_723+515del |
deletion |
Werdnig-Hoffmann disease [RCV000853407] |
Chr5:70936274..70945251 [GRCh38] Chr5:70232101..70241078 [GRCh37] Chr5:5q13.2 |
pathogenic |
GRCh37/hg19 5q13.2(chr5:70247762-70248513)x3 |
copy number gain |
not provided [RCV000762732] |
Chr5:70247762..70248513 [GRCh37] Chr5:5q13.2 |
likely benign |
NM_000344.4(SMN1):c.835-2A>G |
single nucleotide variant |
Spinal muscular atrophy [RCV000780722]|Werdnig-Hoffmann disease [RCV000785797] |
Chr5:70951939 [GRCh38] Chr5:70247766 [GRCh37] Chr5:5q13.2 |
pathogenic|likely pathogenic |
NM_000344.4(SMN1):c.842G>C (p.Arg281Thr) |
single nucleotide variant |
not specified [RCV000780723] |
Chr5:70951948 [GRCh38] Chr5:70247775 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.847A>C (p.Asn283His) |
single nucleotide variant |
not specified [RCV000780724] |
Chr5:70951953 [GRCh38] Chr5:70247780 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.*1G>A |
single nucleotide variant |
not specified [RCV000780725] |
Chr5:70951992 [GRCh38] Chr5:70247819 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.835-24del |
deletion |
not specified [RCV000780727] |
Chr5:70951910 [GRCh38] Chr5:70247737 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.77G>A (p.Gly26Asp) |
single nucleotide variant |
not provided [RCV000785798] |
Chr5:70925180 [GRCh38] Chr5:70221007 [GRCh37] Chr5:5q13.2 |
likely pathogenic |
NM_000344.4(SMN1):c.5C>T (p.Ala2Val) |
single nucleotide variant |
not provided [RCV000785800] |
Chr5:70925108 [GRCh38] Chr5:70220935 [GRCh37] Chr5:5q13.2 |
likely pathogenic |
NM_000344.4(SMN1):c.490C>A (p.Gln164Lys) |
single nucleotide variant |
Werdnig-Hoffmann disease [RCV000785802]|not provided [RCV000993026] |
Chr5:70942733 [GRCh38] Chr5:70238560 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.835-2A>T |
single nucleotide variant |
Spinal muscular atrophy [RCV000780721] |
Chr5:70951939 [GRCh38] Chr5:70247766 [GRCh37] Chr5:5q13.2 |
likely pathogenic |
NM_000344.4(SMN1):c.835-33T>G |
single nucleotide variant |
not specified [RCV000780728] |
Chr5:70951908 [GRCh38] Chr5:70247735 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.835-13A>G |
single nucleotide variant |
not specified [RCV000781858] |
Chr5:70951928 [GRCh38] Chr5:70247755 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.835-13del |
deletion |
not specified [RCV000781859] |
Chr5:70951928 [GRCh38] Chr5:70247755 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.*2G>C |
single nucleotide variant |
not specified [RCV000781860] |
Chr5:70951993 [GRCh38] Chr5:70247820 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.837T>C (p.Gly279=) |
single nucleotide variant |
not specified [RCV000781861] |
Chr5:70951943 [GRCh38] Chr5:70247770 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.835-13A>T |
single nucleotide variant |
not specified [RCV000781862] |
Chr5:70951928 [GRCh38] Chr5:70247755 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.835-1G>A |
single nucleotide variant |
Spinal muscular atrophy [RCV000780726] |
Chr5:70951940 [GRCh38] Chr5:70247767 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.862dup (p.Arg288fs) |
duplication |
Spinal muscular atrophy [RCV000798142] |
Chr5:70951966..70951967 [GRCh38] Chr5:70247793..70247794 [GRCh37] Chr5:5q13.2 |
pathogenic|uncertain significance |
NM_000344.4(SMN1):c.510_511del (p.Ser170fs) |
deletion |
not provided [RCV000785807] |
Chr5:70942752..70942753 [GRCh38] Chr5:70238579..70238580 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.*3+1G>A |
single nucleotide variant |
Spinal muscular atrophy [RCV001174771]|not provided [RCV000785817] |
Chr5:70951995 [GRCh38] Chr5:70247822 [GRCh37] Chr5:5q13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_000344.4(SMN1):c.399_402del (p.Glu134fs) |
microsatellite |
Kugelberg-Welander disease [RCV000009750]|Spinal muscular atrophy, type II [RCV000009749]|Spinal muscular atrophy, type IV [RCV000009751]|Werdnig-Hoffmann disease [RCV000009748]|not provided [RCV000785818] |
Chr5:70942481..70942484 [GRCh38] Chr5:70238308..70238311 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.662C>T (p.Pro221Leu) |
single nucleotide variant |
Spinal muscular atrophy, type II [RCV000785796] |
Chr5:70944692 [GRCh38] Chr5:70240519 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.873T>A (p.His291Gln) |
single nucleotide variant |
not provided [RCV000785815] |
Chr5:70951979 [GRCh38] Chr5:70247806 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.570G>A (p.Trp190Ter) |
single nucleotide variant |
not provided [RCV000785801] |
Chr5:70942813 [GRCh38] Chr5:70238640 [GRCh37] Chr5:5q13.2 |
pathogenic |
NC_000005.10:g.(?_70951931)_(70952001_?)del |
deletion |
Spinal muscular atrophy [RCV000807248] |
Chr5:70951931..70952001 [GRCh38] Chr5:70247758..70247828 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.724-2A>G |
single nucleotide variant |
Kugelberg-Welander disease [RCV000785811] |
Chr5:70946064 [GRCh38] Chr5:70241891 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.3(SMN1):c.274_284del11 |
deletion |
not provided [RCV000785816] |
Chr5:70942357..70942367 [GRCh38] Chr5:70238184..70238194 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.278A>C (p.Lys93Thr) |
single nucleotide variant |
Kugelberg-Welander disease [RCV000791267] |
Chr5:70942362 [GRCh38] Chr5:70238189 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.316G>A (p.Gly106Ser) |
single nucleotide variant |
not provided [RCV000785803] |
Chr5:70942400 [GRCh38] Chr5:70238227 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.796T>C (p.Ser266Pro) |
single nucleotide variant |
not provided [RCV000785804] |
Chr5:70946138 [GRCh38] Chr5:70241965 [GRCh37] Chr5:5q13.2 |
likely pathogenic |
NM_000344.4(SMN1):c.866G>A (p.Cys289Tyr) |
single nucleotide variant |
not provided [RCV000785812] |
Chr5:70951972 [GRCh38] Chr5:70247799 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.48_55dup (p.Val19fs) |
duplication |
Spinal muscular atrophy, type II [RCV000785795] |
Chr5:70925150..70925151 [GRCh38] Chr5:70220977..70220978 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.824G>A (p.Gly275Asp) |
single nucleotide variant |
not provided [RCV000785799] |
Chr5:70946166 [GRCh38] Chr5:70241993 [GRCh37] Chr5:5q13.2 |
likely pathogenic |
Single allele |
deletion |
Neurodevelopmental disorder [RCV000787436] |
Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32 |
uncertain significance |
NM_000344.4(SMN1):c.584del (p.Pro195fs) |
deletion |
not provided [RCV000785805] |
Chr5:70942825 [GRCh38] Chr5:70238652 [GRCh37] Chr5:5q13.2 |
pathogenic|likely pathogenic |
NM_000344.4(SMN1):c.242A>T (p.Gln81Leu) |
single nucleotide variant |
not provided [RCV000993024] |
Chr5:70941477 [GRCh38] Chr5:70237304 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.469C>T (p.Gln157Ter) |
single nucleotide variant |
Werdnig-Hoffmann disease [RCV002290507]|not provided [RCV000993025] |
Chr5:70942553 [GRCh38] Chr5:70238380 [GRCh37] Chr5:5q13.2 |
pathogenic |
GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1 |
copy number loss |
Intellectual disability [RCV000984869] |
Chr5:58785203..73519962 [GRCh38] Chr5:5q11.2-13.2 |
likely pathogenic |
NC_000005.10:g.(?_70951912)_(70951994_?)del |
deletion |
Spinal muscular atrophy [RCV001032790] |
Chr5:70247739..70247821 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.835-21C>A |
single nucleotide variant |
not specified [RCV001192809] |
Chr5:70951920 [GRCh38] Chr5:70247747 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.*4G>A |
single nucleotide variant |
not specified [RCV001192810] |
Chr5:70952439 [GRCh38] Chr5:70248266 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.864G>T (p.Arg288Ser) |
single nucleotide variant |
Spinal muscular atrophy [RCV001240407]|not specified [RCV001192811] |
Chr5:70951970 [GRCh38] Chr5:70247797 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.*4-158_*4-157insA |
insertion |
not provided [RCV001609245] |
Chr5:70952281..70952282 [GRCh38] Chr5:70248108..70248109 [GRCh37] Chr5:5q13.2 |
benign |
NC_000005.10:g.70924611AC[23] |
microsatellite |
not provided [RCV001598809] |
Chr5:70924610..70924611 [GRCh38] Chr5:70220437..70220438 [GRCh37] Chr5:5q13.2 |
benign |
NM_000344.4(SMN1):c.*211_*212del |
deletion |
not provided [RCV001681344] |
Chr5:70952645..70952646 [GRCh38] Chr5:70248472..70248473 [GRCh37] Chr5:5q13.2 |
benign |
NM_000344.4(SMN1):c.-14C>T |
single nucleotide variant |
not provided [RCV001639453] |
Chr5:70925090 [GRCh38] Chr5:70220917 [GRCh37] Chr5:5q13.2 |
benign |
NC_000005.10:g.70924611AC[25] |
microsatellite |
not provided [RCV001674717] |
Chr5:70924610..70924611 [GRCh38] Chr5:70220437..70220438 [GRCh37] Chr5:5q13.2 |
benign |
NM_000344.3(SMN1):c.-23C>G |
single nucleotide variant |
not provided [RCV001588155] |
Chr5:70925081 [GRCh38] Chr5:70220908 [GRCh37] Chr5:5q13.2 |
likely benign |
NM_000344.4(SMN1):c.81+45C>T |
single nucleotide variant |
not provided [RCV001695140] |
Chr5:70925229 [GRCh38] Chr5:70221056 [GRCh37] Chr5:5q13.2 |
benign |
NM_000344.4(SMN1):c.280G>T (p.Val94Phe) |
single nucleotide variant |
Werdnig-Hoffmann disease [RCV001194654] |
Chr5:70942364 [GRCh38] Chr5:70238191 [GRCh37] Chr5:5q13.2 |
likely pathogenic |
NM_000344.4(SMN1):c.836G>A (p.Gly279Asp) |
single nucleotide variant |
not specified [RCV001192808] |
Chr5:70951942 [GRCh38] Chr5:70247769 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NC_000005.10:g.70924611AC[24] |
microsatellite |
not provided [RCV001677444] |
Chr5:70924610..70924611 [GRCh38] Chr5:70220437..70220438 [GRCh37] Chr5:5q13.2 |
benign |
NM_000344.4(SMN1):c.801G>A (p.Trp267Ter) |
single nucleotide variant |
Kugelberg-Welander disease [RCV003237288] |
Chr5:70946143 [GRCh38] Chr5:70241970 [GRCh37] Chr5:5q13.2 |
pathogenic |
GRCh37/hg19 5q13.2(chr5:70247768-70248841)x1 |
copy number loss |
Werdnig-Hoffmann disease [RCV001263251] |
Chr5:70247768..70248841 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.835-260C>T |
single nucleotide variant |
not provided [RCV001638859] |
Chr5:70951681 [GRCh38] Chr5:70247508 [GRCh37] Chr5:5q13.2 |
benign |
NM_000344.4(SMN1):c.*3+1G>C |
single nucleotide variant |
Spinal muscular atrophy [RCV001192812] |
Chr5:70951995 [GRCh38] Chr5:70247822 [GRCh37] Chr5:5q13.2 |
likely pathogenic |
NM_000344.4(SMN1):c.835-17C>G |
single nucleotide variant |
not specified [RCV001192813] |
Chr5:70951924 [GRCh38] Chr5:70247751 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.*3+3A>T |
single nucleotide variant |
Werdnig-Hoffmann disease [RCV001194661] |
Chr5:70951997 [GRCh38] Chr5:70247824 [GRCh37] Chr5:5q13.2 |
likely pathogenic |
GRCh37/hg19 5q13.2(chr5:70247768-70247821) |
copy number loss |
Spinal muscular atrophy [RCV001171639] |
Chr5:70247768..70247821 [GRCh37] Chr5:5q13.2 |
pathogenic |
NC_000005.10:g.70924611AC[22] |
microsatellite |
not provided [RCV001695647] |
Chr5:70924610..70924611 [GRCh38] Chr5:70220437..70220438 [GRCh37] Chr5:5q13.2 |
benign |
NM_000344.4(SMN1):c.379T>C (p.Tyr127His) |
single nucleotide variant |
Kugelberg-Welander disease [RCV001089661] |
Chr5:70942463 [GRCh38] Chr5:70238290 [GRCh37] Chr5:5q13.2 |
likely pathogenic |
NM_000344.4(SMN1):c.883T>G (p.Ter295Glu) |
single nucleotide variant |
not specified [RCV001251308] |
Chr5:70951989 [GRCh38] Chr5:70247816 [GRCh37] Chr5:5q13.2 |
uncertain significance |
GRCh37/hg19 5q13.2(chr5:68831650-70663428)x1 |
copy number loss |
not provided [RCV001258858] |
Chr5:68831650..70663428 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.*6A>G |
single nucleotide variant |
not specified [RCV001264591] |
Chr5:70952441 [GRCh38] Chr5:70248268 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.835-19T>A |
single nucleotide variant |
not specified [RCV001264429] |
Chr5:70951922 [GRCh38] Chr5:70247749 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.*10C>A |
single nucleotide variant |
not specified [RCV001264592] |
Chr5:70952445 [GRCh38] Chr5:70248272 [GRCh37] Chr5:5q13.2 |
uncertain significance |
GRCh37/hg19 5q13.2(chr5:70247768-70248841)x1 |
copy number loss |
Werdnig-Hoffmann disease [RCV001263252] |
Chr5:70247768..70248841 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.724_885del (p.Ile242_Ter295del) |
deletion |
Werdnig-Hoffmann disease [RCV001250171] |
Chr5:70946066..70951991 [GRCh38] Chr5:70241893..70247818 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.651A>G (p.Pro217=) |
single nucleotide variant |
not specified [RCV001663813] |
Chr5:70944681 [GRCh38] Chr5:70240508 [GRCh37] Chr5:5q13.2 |
likely benign |
NM_000344.4(SMN1):c.855_858del (p.Arg288fs) |
deletion |
not provided [RCV001663814] |
Chr5:70951959..70951962 [GRCh38] Chr5:70247786..70247789 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.835-31T>G |
single nucleotide variant |
not specified [RCV001328452] |
Chr5:70951910 [GRCh38] Chr5:70247737 [GRCh37] Chr5:5q13.2 |
uncertain significance |
GRCh37/hg19 5q13.2(chr5:70220768-70247953)x0 |
copy number loss |
Spinal muscular atrophy [RCV001535650] |
Chr5:70220768..70247953 [GRCh37] Chr5:5q13.2 |
not provided |
NC_000005.9:g.(?_70247739)_(70247821_?)dup |
duplication |
Spinal muscular atrophy [RCV001466133] |
Chr5:70247739..70247821 [GRCh37] Chr5:5q13.2 |
likely benign |
NC_000005.10:g.70924882dup |
duplication |
not provided [RCV001643468] |
Chr5:70924872..70924873 [GRCh38] Chr5:70220699..70220700 [GRCh37] Chr5:5q13.2 |
benign |
NC_000005.10:g.70924611AC[21] |
microsatellite |
not provided [RCV001614144] |
Chr5:70924610..70924611 [GRCh38] Chr5:70220437..70220438 [GRCh37] Chr5:5q13.2 |
benign |
NC_000005.9:g.(?_70219768)_70249839dup |
duplication |
Spinal muscular atrophy [RCV001430399] |
|
likely benign |
GRCh37/hg19 5q13.2(chr5:70247768-70247818)x0 |
copy number loss |
not provided [RCV001816418] |
Chr5:70247768..70247818 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.*3+80T>G |
single nucleotide variant |
not specified [RCV001806742] |
Chr5:70952074 [GRCh38] Chr5:70247901 [GRCh37] Chr5:5q13.2 |
benign |
GRCh37/hg19 5q12.3-13.2(chr5:64049692-70306646) |
copy number loss |
not specified [RCV002053499] |
Chr5:64049692..70306646 [GRCh37] Chr5:5q12.3-13.2 |
pathogenic |
NM_000344.3:c.*3+32_*3+33insSVA |
insertion |
Kugelberg-Welander disease [RCV002226423] |
|
pathogenic |
NC_000005.9:g.(?_70247758)_(70247828_?)dup |
duplication |
Spinal muscular atrophy [RCV003111077] |
Chr5:70247758..70247828 [GRCh37] Chr5:5q13.2 |
likely benign |
NM_000344.4(SMN1):c.549del (p.Lys184fs) |
deletion |
Spinal muscular atrophy [RCV002273076]|not provided [RCV003482404] |
Chr5:70942792 [GRCh38] Chr5:70238619 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.291del (p.Lys97fs) |
deletion |
Spinal muscular atrophy [RCV002273293] |
Chr5:70942373 [GRCh38] Chr5:70238200 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.223G>A (p.Ala75Thr) |
single nucleotide variant |
not provided [RCV002475294] |
Chr5:70941458 [GRCh38] Chr5:70237285 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.630del (p.Gly211fs) |
deletion |
not provided [RCV002475293] |
Chr5:70944660 [GRCh38] Chr5:70240487 [GRCh37] Chr5:5q13.2 |
likely pathogenic |
NM_000344.4(SMN1):c.708T>G (p.Phe236Leu) |
single nucleotide variant |
not provided [RCV002475292] |
Chr5:70944738 [GRCh38] Chr5:70240565 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.841A>G (p.Arg281Gly) |
single nucleotide variant |
Spinal muscular atrophy [RCV003038887] |
Chr5:70951947 [GRCh38] Chr5:70247774 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.835G>C (p.Gly279Arg) |
single nucleotide variant |
Spinal muscular atrophy [RCV002642356] |
Chr5:70951941 [GRCh38] Chr5:70247768 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.835-18_835-12del |
deletion |
Spinal muscular atrophy [RCV002640730] |
Chr5:70951922..70951928 [GRCh38] Chr5:70247749..70247755 [GRCh37] Chr5:5q13.2 |
pathogenic|likely pathogenic |
NM_000344.4(SMN1):c.885A>G (p.Ter295=) |
single nucleotide variant |
Spinal muscular atrophy [RCV002894385] |
Chr5:70951991 [GRCh38] Chr5:70247818 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.861_864del (p.Arg288fs) |
microsatellite |
Spinal muscular atrophy [RCV002628143]|not specified [RCV003404110] |
Chr5:70951962..70951965 [GRCh38] Chr5:70247789..70247792 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.862A>G (p.Arg288Gly) |
single nucleotide variant |
Spinal muscular atrophy [RCV002671314] |
Chr5:70951968 [GRCh38] Chr5:70247795 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.3:c.*35_*36insSVA |
insertion |
Kugelberg-Welander disease [RCV003152555] |
|
pathogenic |
NM_000344.4(SMN1):c.835-8_835-5delinsG |
indel |
Werdnig-Hoffmann disease [RCV003330335] |
Chr5:70951933..70951936 [GRCh38] Chr5:70247760..70247763 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.*3+4_*3+7del |
deletion |
Spinal muscular atrophy [RCV003331771] |
Chr5:70951998..70952001 [GRCh38] Chr5:70247825..70247828 [GRCh37] Chr5:5q13.2 |
likely pathogenic |
NM_000344.4(SMN1):c.43C>T (p.Gln15Ter) |
single nucleotide variant |
not provided [RCV003482884] |
Chr5:70925146 [GRCh38] Chr5:70220973 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.618A>G (p.Gly206=) |
single nucleotide variant |
not provided [RCV003482885] |
Chr5:70942861 [GRCh38] Chr5:70238688 [GRCh37] Chr5:5q13.2 |
uncertain significance |
NM_000344.4(SMN1):c.268C>T (p.Gln90Ter) |
single nucleotide variant |
Werdnig-Hoffmann disease [RCV003445470] |
Chr5:70941503 [GRCh38] Chr5:70237330 [GRCh37] Chr5:5q13.2 |
likely pathogenic |
NM_000344.4(SMN1):c.823G>A (p.Gly275Ser) |
single nucleotide variant |
not provided [RCV003489437] |
Chr5:70946165 [GRCh38] Chr5:70241992 [GRCh37] Chr5:5q13.2 |
likely pathogenic |
NM_000344.4(SMN1):c.22dup (p.Ser8fs) |
duplication |
not provided [RCV003491872] |
Chr5:70925124..70925125 [GRCh38] Chr5:70220951..70220952 [GRCh37] Chr5:5q13.2 |
pathogenic |
NM_000344.4(SMN1):c.597dup (p.Met200fs) |
duplication |
not provided [RCV003489438] |
Chr5:70942834..70942835 [GRCh38] Chr5:70238661..70238662 [GRCh37] Chr5:5q13.2 |
likely pathogenic |
NM_000344.4(SMN1):c.317G>T (p.Gly106Val) |
single nucleotide variant |
not provided [RCV003491531] |
Chr5:70942401 [GRCh38] Chr5:70238228 [GRCh37] Chr5:5q13.2 |
uncertain significance |