| NM_003719.5(PDE8B):c.914A>C (p.His305Pro) |
single nucleotide variant |
Pigmented nodular adrenocortical disease, primary, 3 [RCV000006762] |
Chr5:77349456 [GRCh38]
Chr5:76645281 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_003719.5(PDE8B):c.94_95delinsC (p.Val32fs) |
indel |
Autosomal dominant striatal neurodegeneration type 1 [RCV000006763] |
Chr5:77211019..77211020 [GRCh38]
Chr5:76506844..76506845 [GRCh37]
Chr5:5q13.3 |
pathogenic|likely pathogenic |
| GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 |
copy number gain |
See cases [RCV000051839] |
Chr5:74163186..110809453 [GRCh38]
Chr5:73459011..110145153 [GRCh37]
Chr5:73494767..110173052 [NCBI36]
Chr5:5q13.3-22.1 |
pathogenic |
| GRCh38/hg38 5q13.3-14.1(chr5:77018109-78190068)x1 |
copy number loss |
See cases [RCV000053473] |
Chr5:77018109..78190068 [GRCh38]
Chr5:76313934..77485892 [GRCh37]
Chr5:76349690..77521648 [NCBI36]
Chr5:5q13.3-14.1 |
pathogenic |
| NC_000005.10:g.77193035G>A |
single nucleotide variant |
Lung cancer [RCV000096181] |
Chr5:77193035 [GRCh38]
Chr5:76488860 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| GRCh37/hg19 5q13.3(chr5:76465177-76597426)x3 |
copy number gain |
See cases [RCV000449048] |
Chr5:76465177..76597426 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.304G>T (p.Glu102Ter) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000224977] |
Chr5:77211229 [GRCh38]
Chr5:76507054 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_003719.5(PDE8B):c.79del (p.Arg27fs) |
deletion |
Autosomal dominant striatal neurodegeneration type 1 [RCV000224988] |
Chr5:77211001 [GRCh38]
Chr5:76506826 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_003719.5(PDE8B):c.2622A>G (p.Leu874=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000273933]|not provided [RCV000906757] |
Chr5:77426518 [GRCh38]
Chr5:76722343 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.*64G>A |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001094968]|Striatal Degeneration [RCV000267169]|not provided [RCV004716394] |
Chr5:77426618 [GRCh38]
Chr5:76722443 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_003719.5(PDE8B):c.*1520T>C |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000344747] |
Chr5:77428074 [GRCh38]
Chr5:76723899 [GRCh37]
Chr5:5q13.3 |
likely benign|uncertain significance |
| NM_003719.5(PDE8B):c.*516A>G |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000394564]|not provided [RCV004716399] |
Chr5:77427070 [GRCh38]
Chr5:76722895 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_003719.5(PDE8B):c.*921A>G |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000333387] |
Chr5:77427475 [GRCh38]
Chr5:76723300 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.*741A>T |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000268308] |
Chr5:77427295 [GRCh38]
Chr5:76723120 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.*1128A>G |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000346315]|not provided [RCV004716400] |
Chr5:77427682 [GRCh38]
Chr5:76723507 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.552T>C (p.His184=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000396771]|not provided [RCV000975069] |
Chr5:77325691 [GRCh38]
Chr5:76621516 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.591-7A>G |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000303397]|not provided [RCV002061292] |
Chr5:77328991 [GRCh38]
Chr5:76624816 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.*496A>G |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000397883] |
Chr5:77427050 [GRCh38]
Chr5:76722875 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.400-7G>T |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000304727]|not provided [RCV002058535] |
Chr5:77325532 [GRCh38]
Chr5:76621357 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.*864_*865del |
deletion |
Striatal Degeneration [RCV000372963] |
Chr5:77427418..77427419 [GRCh38]
Chr5:76723243..76723244 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1764A>G (p.Glu588=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000287477]|not provided [RCV002061293] |
Chr5:77413162 [GRCh38]
Chr5:76708987 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_003719.5(PDE8B):c.*1213C>T |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000287991] |
Chr5:77427767 [GRCh38]
Chr5:76723592 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.*1606T>C |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000305573] |
Chr5:77428160 [GRCh38]
Chr5:76723985 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.*497dup |
duplication |
Striatal Degeneration [RCV000349252] |
Chr5:77427039..77427040 [GRCh38]
Chr5:76722864..76722865 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_003719.5(PDE8B):c.*436C>T |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000375960] |
Chr5:77426990 [GRCh38]
Chr5:76722815 [GRCh37]
Chr5:5q13.3 |
likely benign|uncertain significance |
| NM_003719.5(PDE8B):c.*456A>G |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000403841] |
Chr5:77427010 [GRCh38]
Chr5:76722835 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_003719.5(PDE8B):c.*1150A>G |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000403973] |
Chr5:77427704 [GRCh38]
Chr5:76723529 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.*63C>T |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001094967]|Striatal Degeneration [RCV000272908]|not provided [RCV004716393] |
Chr5:77426617 [GRCh38]
Chr5:76722442 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_003719.5(PDE8B):c.1366-5G>A |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000327783]|PDE8B-related disorder [RCV003972486]|not provided [RCV002058536]|not specified [RCV000455349] |
Chr5:77408888 [GRCh38]
Chr5:76704713 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.*831T>C |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000320841] |
Chr5:77427385 [GRCh38]
Chr5:76723210 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.*648T>G |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000308173] |
Chr5:77427202 [GRCh38]
Chr5:76723027 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.1921G>A (p.Asp641Asn) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000378464]|not provided [RCV005090574] |
Chr5:77418238 [GRCh38]
Chr5:76714063 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.1698C>A (p.Ala566=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000384180]|PDE8B-related disorder [RCV003932457]|not provided [RCV000879123] |
Chr5:77412221 [GRCh38]
Chr5:76708046 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.1152T>C (p.Thr384=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000354382]|not provided [RCV000893911] |
Chr5:77353391 [GRCh38]
Chr5:76649216 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.435C>T (p.Ser145=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000343035]|not provided [RCV000907283] |
Chr5:77325574 [GRCh38]
Chr5:76621399 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.1309C>T (p.Arg437Cys) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000385834]|Inborn genetic diseases [RCV004022003]|not provided [RCV001861263] |
Chr5:77407401 [GRCh38]
Chr5:76703226 [GRCh37]
Chr5:5q13.3 |
benign|likely benign|uncertain significance |
| NM_003719.5(PDE8B):c.1317G>A (p.Pro439=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000275067]|not provided [RCV000983365] |
Chr5:77407409 [GRCh38]
Chr5:76703234 [GRCh37]
Chr5:5q13.3 |
likely benign|uncertain significance |
| NM_003719.5(PDE8B):c.672G>A (p.Ala224=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000355891]|not provided [RCV000903417] |
Chr5:77331423 [GRCh38]
Chr5:76627248 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.362G>A (p.Arg121His) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000403089]|not provided [RCV000948294] |
Chr5:77312016 [GRCh38]
Chr5:76607841 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.*70C>T |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000324717]|not provided [RCV004716395] |
Chr5:77426624 [GRCh38]
Chr5:76722449 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.1267A>G (p.Ile423Val) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000276031]|PDE8B-related disorder [RCV004757218]|not provided [RCV000964127] |
Chr5:77404776 [GRCh38]
Chr5:76700601 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.*1011A>G |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000293813] |
Chr5:77427565 [GRCh38]
Chr5:76723390 [GRCh37]
Chr5:5q13.3 |
likely benign|uncertain significance |
| NM_003719.5(PDE8B):c.-24C>T |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000333244] |
Chr5:77210902 [GRCh38]
Chr5:76506727 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1299G>A (p.Leu433=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000333601]|not provided [RCV000922240] |
Chr5:77407391 [GRCh38]
Chr5:76703216 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.2145G>A (p.Thr715=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000405981]|not provided [RCV000910043] |
Chr5:77419782 [GRCh38]
Chr5:76715607 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.1881C>T (p.Thr627=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000344832] |
Chr5:77413279 [GRCh38]
Chr5:76709104 [GRCh37]
Chr5:5q13.3 |
likely benign|uncertain significance |
| NM_003719.5(PDE8B):c.*57C>T |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000365063]|not provided [RCV004716392] |
Chr5:77426611 [GRCh38]
Chr5:76722436 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.*437A>G |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000278043]|not provided [RCV004716396] |
Chr5:77426991 [GRCh38]
Chr5:76722816 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_003719.5(PDE8B):c.*901A>G |
single nucleotide variant |
Striatal Degeneration [RCV000294913] |
Chr5:77427455 [GRCh38]
Chr5:76723280 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2263G>A (p.Asp755Asn) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000335098]|not provided [RCV000899495] |
Chr5:77421833 [GRCh38]
Chr5:76717658 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.*439C>T |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000335498] |
Chr5:77426993 [GRCh38]
Chr5:76722818 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.*1007del |
deletion |
Striatal Degeneration [RCV000385607] |
Chr5:77427561 [GRCh38]
Chr5:76723386 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.*863_*864del |
deletion |
Striatal Degeneration [RCV000262351] |
Chr5:77427402..77427403 [GRCh38]
Chr5:76723227..76723228 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_003719.5(PDE8B):c.2343C>T (p.Asp781=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000314103]|PDE8B-related disorder [RCV003950255]|not provided [RCV002061294] |
Chr5:77421913 [GRCh38]
Chr5:76717738 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.*1590T>A |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000390818] |
Chr5:77428144 [GRCh38]
Chr5:76723969 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.858C>T (p.Ser286=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000263154]|not provided [RCV000912391] |
Chr5:77344913 [GRCh38]
Chr5:76640738 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.-23G>T |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000387760] |
Chr5:77210903 [GRCh38]
Chr5:76506728 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.2130G>A (p.Arg710=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000339330]|PDE8B-related disorder [RCV003957825]|not provided [RCV002520383] |
Chr5:77419767 [GRCh38]
Chr5:76715592 [GRCh37]
Chr5:5q13.3 |
benign|likely benign|uncertain significance |
| NM_003719.5(PDE8B):c.*480T>G |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000296656]|not provided [RCV004716397] |
Chr5:77427034 [GRCh38]
Chr5:76722859 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.63C>T (p.Asp21=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000350330]|not provided [RCV000889569] |
Chr5:77210988 [GRCh38]
Chr5:76506813 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.2235G>A (p.Lys745=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000299525]|not provided [RCV000920963] |
Chr5:77419872 [GRCh38]
Chr5:76715697 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.2274C>T (p.Cys758=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000395465]|not provided [RCV000888695] |
Chr5:77421844 [GRCh38]
Chr5:76717669 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_003719.5(PDE8B):c.*863_*865del |
deletion |
Striatal Degeneration [RCV000319775]|not provided [RCV004695882] |
Chr5:77427417..77427419 [GRCh38]
Chr5:76723242..76723244 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.*512T>C |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000366496]|not provided [RCV004716398] |
Chr5:77427066 [GRCh38]
Chr5:76722891 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_003719.5(PDE8B):c.156C>T (p.Ala52=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000291798]|not provided [RCV002061291] |
Chr5:77211081 [GRCh38]
Chr5:76506906 [GRCh37]
Chr5:5q13.3 |
likely benign|uncertain significance |
| NM_003719.5(PDE8B):c.52C>A (p.Arg18=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000293091] |
Chr5:77210977 [GRCh38]
Chr5:76506802 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.125G>C (p.Gly42Ala) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000405028]|Inborn genetic diseases [RCV004649140]|not specified [RCV003987519] |
Chr5:77211050 [GRCh38]
Chr5:76506875 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.*287C>T |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000284949] |
Chr5:77426841 [GRCh38]
Chr5:76722666 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.*296dup |
duplication |
Striatal Degeneration [RCV000337742] |
Chr5:77426849..77426850 [GRCh38]
Chr5:76722674..76722675 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2545G>A (p.Asp849Asn) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000371049] |
Chr5:77425893 [GRCh38]
Chr5:76721718 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2115C>T (p.Phe705=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000286667] |
Chr5:77418432 [GRCh38]
Chr5:76714257 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.999A>G (p.Thr333=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000297237]|not provided [RCV005055925] |
Chr5:77349541 [GRCh38]
Chr5:76645366 [GRCh37]
Chr5:5q13.3 |
likely benign|uncertain significance |
| NM_003719.5(PDE8B):c.*506_*510del |
deletion |
Striatal Degeneration [RCV000309457] |
Chr5:77427056..77427060 [GRCh38]
Chr5:76722881..76722885 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.*28C>G |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000312719] |
Chr5:77426582 [GRCh38]
Chr5:76722407 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.*864del |
deletion |
Striatal Degeneration [RCV000359271] |
Chr5:77427402 [GRCh38]
Chr5:76723227 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.*179G>A |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000377128] |
Chr5:77426733 [GRCh38]
Chr5:76722558 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.280A>G (p.Arg94Gly) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000344411]|Inborn genetic diseases [RCV004022002] |
Chr5:77211205 [GRCh38]
Chr5:76507030 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.*694_*696del |
deletion |
Striatal Degeneration [RCV000360655] |
Chr5:77427246..77427248 [GRCh38]
Chr5:76723071..76723073 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.*1265G>A |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001151748] |
Chr5:77427819 [GRCh38]
Chr5:76723644 [GRCh37]
Chr5:5q13.3 |
likely benign |
| 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 |
| 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 |
| NM_003719.5(PDE8B):c.671C>T (p.Ala224Val) |
single nucleotide variant |
not specified [RCV003317847] |
Chr5:77331422 [GRCh38]
Chr5:76627247 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.334G>A (p.Val112Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003308509] |
Chr5:77211259 [GRCh38]
Chr5:76507084 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| GRCh37/hg19 5q13.3(chr5:76159960-76718626)x3 |
copy number gain |
not provided [RCV000682569] |
Chr5:76159960..76718626 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| 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 |
| NM_003719.5(PDE8B):c.2055G>A (p.Glu685=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001155415]|not provided [RCV000896309] |
Chr5:77418372 [GRCh38]
Chr5:76714197 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_003719.5(PDE8B):c.95T>C (p.Val32Ala) |
single nucleotide variant |
not provided [RCV001543553] |
Chr5:77211020 [GRCh38]
Chr5:76506845 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_003719.5(PDE8B):c.1560G>A (p.Glu520=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001155413]|not provided [RCV000896782] |
Chr5:77411705 [GRCh38]
Chr5:76707530 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| Single allele |
deletion |
Neurodevelopmental disorder [RCV000787436] |
Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32 |
uncertain significance |
| NM_003719.5(PDE8B):c.1289-6C>T |
single nucleotide variant |
not provided [RCV000903372] |
Chr5:77407375 [GRCh38]
Chr5:76703200 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1875C>T (p.His625=) |
single nucleotide variant |
not provided [RCV000900740] |
Chr5:77413273 [GRCh38]
Chr5:76709098 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1289-8C>T |
single nucleotide variant |
not provided [RCV000906079] |
Chr5:77407373 [GRCh38]
Chr5:76703198 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_003719.5(PDE8B):c.1416G>A (p.Ala472=) |
single nucleotide variant |
not provided [RCV000902506] |
Chr5:77408943 [GRCh38]
Chr5:76704768 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1533C>T (p.Asp511=) |
single nucleotide variant |
PDE8B-related disorder [RCV003955788]|not provided [RCV000879294] |
Chr5:77411678 [GRCh38]
Chr5:76707503 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1383T>C (p.Asn461=) |
single nucleotide variant |
not provided [RCV000903693] |
Chr5:77408910 [GRCh38]
Chr5:76704735 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_003719.5(PDE8B):c.339+8C>A |
single nucleotide variant |
not provided [RCV000932999]|not specified [RCV005056691] |
Chr5:77211272 [GRCh38]
Chr5:76507097 [GRCh37]
Chr5:5q13.3 |
likely benign|uncertain significance |
| NM_003719.5(PDE8B):c.654G>A (p.Ser218=) |
single nucleotide variant |
not provided [RCV000894254] |
Chr5:77331405 [GRCh38]
Chr5:76627230 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1056G>A (p.Gly352=) |
single nucleotide variant |
not provided [RCV000943100] |
Chr5:77351103 [GRCh38]
Chr5:76646928 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_003719.5(PDE8B):c.2499G>A (p.Gln833=) |
single nucleotide variant |
not provided [RCV000898026] |
Chr5:77425847 [GRCh38]
Chr5:76721672 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1107-6T>A |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001151563]|not provided [RCV002558313] |
Chr5:77353340 [GRCh38]
Chr5:76649165 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.*1304G>T |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001151749] |
Chr5:77427858 [GRCh38]
Chr5:76723683 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| GRCh37/hg19 5q13.3(chr5:76683620-76810358)x3 |
copy number gain |
not provided [RCV000850000] |
Chr5:76683620..76810358 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2649dup (p.Asp884Ter) |
duplication |
Autosomal dominant striatal neurodegeneration type 1 [RCV001196614] |
Chr5:77426544..77426545 [GRCh38]
Chr5:76722369..76722370 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.593C>T (p.Ser198Leu) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001156981]|Inborn genetic diseases [RCV004649469]|not provided [RCV001882494] |
Chr5:77329000 [GRCh38]
Chr5:76624825 [GRCh37]
Chr5:5q13.3 |
benign|uncertain significance |
| NM_003719.5(PDE8B):c.1001G>A (p.Cys334Tyr) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001151562]|not provided [RCV004773300] |
Chr5:77349543 [GRCh38]
Chr5:76645368 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1211A>T (p.Glu404Val) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001151565] |
Chr5:77404720 [GRCh38]
Chr5:76700545 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.306G>A (p.Glu102=) |
single nucleotide variant |
PDE8B-related disorder [RCV003953333]|not provided [RCV000973933] |
Chr5:77211231 [GRCh38]
Chr5:76507056 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.2538T>C (p.Asp846=) |
single nucleotide variant |
not provided [RCV000925167] |
Chr5:77425886 [GRCh38]
Chr5:76721711 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1248G>A (p.Glu416=) |
single nucleotide variant |
not provided [RCV000909246] |
Chr5:77404757 [GRCh38]
Chr5:76700582 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.2541T>C (p.Ala847=) |
single nucleotide variant |
not provided [RCV000977781] |
Chr5:77425889 [GRCh38]
Chr5:76721714 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1138C>T (p.Leu380=) |
single nucleotide variant |
not provided [RCV000940346] |
Chr5:77353377 [GRCh38]
Chr5:76649202 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1461G>A (p.Leu487=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001154578] |
Chr5:77408988 [GRCh38]
Chr5:76704813 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.*445G>A |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001154694] |
Chr5:77426999 [GRCh38]
Chr5:76722824 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.796C>T (p.Arg266Trp) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001156982]|Inborn genetic diseases [RCV004960499] |
Chr5:77337314 [GRCh38]
Chr5:76633139 [GRCh37]
Chr5:5q13.3 |
likely benign|uncertain significance |
| NM_003719.5(PDE8B):c.2139T>C (p.Tyr713=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001157097]|not provided [RCV001859022] |
Chr5:77419776 [GRCh38]
Chr5:76715601 [GRCh37]
Chr5:5q13.3 |
likely benign|uncertain significance |
| NM_003719.5(PDE8B):c.*1139A>G |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001157212] |
Chr5:77427693 [GRCh38]
Chr5:76723518 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.878A>G (p.Tyr293Cys) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001197361] |
Chr5:77349420 [GRCh38]
Chr5:76645245 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1031T>G (p.Val344Gly) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV000987528] |
Chr5:77351078 [GRCh38]
Chr5:76646903 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1276C>T (p.Arg426Ter) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV003234861] |
Chr5:77404785 [GRCh38]
Chr5:76700610 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3 |
copy number gain |
not provided [RCV001005683] |
Chr5:72790061..97478870 [GRCh37]
Chr5:5q13.2-15 |
pathogenic |
| NM_003719.5(PDE8B):c.*1050T>C |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001157211] |
Chr5:77427604 [GRCh38]
Chr5:76723429 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.*1204C>T |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001151746] |
Chr5:77427758 [GRCh38]
Chr5:76723583 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.*1254T>G |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001151747] |
Chr5:77427808 [GRCh38]
Chr5:76723633 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.-44C>T |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001154477] |
Chr5:77210882 [GRCh38]
Chr5:76506707 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.94del (p.Val32fs) |
deletion |
not provided [RCV001543478] |
Chr5:77211019 [GRCh38]
Chr5:76506844 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_003719.5(PDE8B):c.*1575G>A |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001151750] |
Chr5:77428129 [GRCh38]
Chr5:76723954 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_003719.5(PDE8B):c.-19G>T |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001155309] |
Chr5:77210907 [GRCh38]
Chr5:76506732 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.876+15C>T |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001151561]|not provided [RCV005056948] |
Chr5:77344946 [GRCh38]
Chr5:76640771 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1207A>G (p.Thr403Ala) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001151564] |
Chr5:77400287 [GRCh38]
Chr5:76696112 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.*30G>A |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001151649] |
Chr5:77426584 [GRCh38]
Chr5:76722409 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1576+4A>G |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001197205] |
Chr5:77411725 [GRCh38]
Chr5:76707550 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.*341C>T |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001154693] |
Chr5:77426895 [GRCh38]
Chr5:76722720 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_003719.5(PDE8B):c.*498C>A |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001155525]|not provided [RCV004694981] |
Chr5:77427052 [GRCh38]
Chr5:76722877 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1447C>T (p.Arg483Trp) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001154577]|Inborn genetic diseases [RCV002558340] |
Chr5:77408974 [GRCh38]
Chr5:76704799 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1831T>G (p.Ser611Ala) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001155414]|not provided [RCV004792745] |
Chr5:77413229 [GRCh38]
Chr5:76709054 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.570C>T (p.Phe190=) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001156980] |
Chr5:77325709 [GRCh38]
Chr5:76621534 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.*865G>A |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001157210] |
Chr5:77427419 [GRCh38]
Chr5:76723244 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.211C>T (p.Arg71Cys) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV001253653] |
Chr5:77211136 [GRCh38]
Chr5:76506961 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2331dup (p.Lys778Ter) |
duplication |
not provided [RCV001310510] |
Chr5:77421899..77421900 [GRCh38]
Chr5:76717724..76717725 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_003719.5(PDE8B):c.4G>A (p.Gly2Ser) |
single nucleotide variant |
not provided [RCV001755271] |
Chr5:77210929 [GRCh38]
Chr5:76506754 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2236C>T (p.Pro746Ser) |
single nucleotide variant |
not provided [RCV001758896] |
Chr5:77419873 [GRCh38]
Chr5:76715698 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.143A>T (p.Asp48Val) |
single nucleotide variant |
not provided [RCV001983817] |
Chr5:77211068 [GRCh38]
Chr5:76506893 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1306C>T (p.Arg436Cys) |
single nucleotide variant |
not provided [RCV002040886] |
Chr5:77407398 [GRCh38]
Chr5:76703223 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1911+4G>A |
single nucleotide variant |
not provided [RCV002005294] |
Chr5:77413313 [GRCh38]
Chr5:76709138 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1365+10G>A |
single nucleotide variant |
not provided [RCV002002583] |
Chr5:77407467 [GRCh38]
Chr5:76703292 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.193G>C (p.Ala65Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004956169]|not provided [RCV002041004] |
Chr5:77211118 [GRCh38]
Chr5:76506943 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.764A>C (p.Glu255Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002571326]|not provided [RCV001969215] |
Chr5:77337282 [GRCh38]
Chr5:76633107 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2418+17G>A |
single nucleotide variant |
not provided [RCV001985693] |
Chr5:77422005 [GRCh38]
Chr5:76717830 [GRCh37]
Chr5:5q13.3 |
likely benign|uncertain significance |
| NM_003719.5(PDE8B):c.107C>G (p.Pro36Arg) |
single nucleotide variant |
not provided [RCV002005659] |
Chr5:77211032 [GRCh38]
Chr5:76506857 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2559T>G (p.His853Gln) |
single nucleotide variant |
not provided [RCV001992243] |
Chr5:77426455 [GRCh38]
Chr5:76722280 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2401G>A (p.Glu801Lys) |
single nucleotide variant |
not provided [RCV001944624] |
Chr5:77421971 [GRCh38]
Chr5:76717796 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.181C>A (p.Pro61Thr) |
single nucleotide variant |
not provided [RCV002012755] |
Chr5:77211106 [GRCh38]
Chr5:76506931 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.487C>T (p.Arg163Trp) |
single nucleotide variant |
not provided [RCV001933687] |
Chr5:77325626 [GRCh38]
Chr5:76621451 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.19A>T (p.Ile7Phe) |
single nucleotide variant |
not provided [RCV001995749] |
Chr5:77210944 [GRCh38]
Chr5:76506769 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2144C>T (p.Thr715Met) |
single nucleotide variant |
PDE8B-related disorder [RCV003978454]|not provided [RCV001991861] |
Chr5:77419781 [GRCh38]
Chr5:76715606 [GRCh37]
Chr5:5q13.3 |
likely benign|uncertain significance |
| NM_003719.5(PDE8B):c.329C>T (p.Thr110Ile) |
single nucleotide variant |
not provided [RCV002019735] |
Chr5:77211254 [GRCh38]
Chr5:76507079 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.354G>A (p.Ala118=) |
single nucleotide variant |
not provided [RCV001952534] |
Chr5:77312008 [GRCh38]
Chr5:76607833 [GRCh37]
Chr5:5q13.3 |
likely benign|uncertain significance |
| NM_003719.5(PDE8B):c.2286G>C (p.Gly762=) |
single nucleotide variant |
not provided [RCV002088848] |
Chr5:77421856 [GRCh38]
Chr5:76717681 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1912-10C>T |
single nucleotide variant |
not provided [RCV002129270] |
Chr5:77418219 [GRCh38]
Chr5:76714044 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1632C>T (p.Pro544=) |
single nucleotide variant |
not provided [RCV002210214] |
Chr5:77412155 [GRCh38]
Chr5:76707980 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1366-20T>C |
single nucleotide variant |
not provided [RCV002126454] |
Chr5:77408873 [GRCh38]
Chr5:76704698 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.339+15C>G |
single nucleotide variant |
not provided [RCV002148615] |
Chr5:77211279 [GRCh38]
Chr5:76507104 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1497= (p.Pro499=) |
variation |
not provided [RCV002187476] |
Chr5:77409024 [GRCh38]
Chr5:76704849 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_003719.5(PDE8B):c.1167+11A>G |
single nucleotide variant |
not provided [RCV002174170] |
Chr5:77353417 [GRCh38]
Chr5:76649242 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.615C>T (p.Ser205=) |
single nucleotide variant |
not provided [RCV002112556] |
Chr5:77329022 [GRCh38]
Chr5:76624847 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1962C>T (p.Val654=) |
single nucleotide variant |
not provided [RCV002078507] |
Chr5:77418279 [GRCh38]
Chr5:76714104 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1366-6C>T |
single nucleotide variant |
not provided [RCV002127187] |
Chr5:77408887 [GRCh38]
Chr5:76704712 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1366-14C>T |
single nucleotide variant |
not provided [RCV002129133] |
Chr5:77408879 [GRCh38]
Chr5:76704704 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.87C>T (p.Thr29=) |
single nucleotide variant |
not provided [RCV002195272] |
Chr5:77211012 [GRCh38]
Chr5:76506837 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1221A>G (p.Ser407=) |
single nucleotide variant |
not provided [RCV002201423] |
Chr5:77404730 [GRCh38]
Chr5:76700555 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1912-13C>T |
single nucleotide variant |
not provided [RCV002139061] |
Chr5:77418216 [GRCh38]
Chr5:76714041 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.2607G>A (p.Lys869=) |
single nucleotide variant |
not provided [RCV002201808] |
Chr5:77426503 [GRCh38]
Chr5:76722328 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1018-9T>C |
single nucleotide variant |
not provided [RCV002199225] |
Chr5:77351056 [GRCh38]
Chr5:76646881 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.2400T>C (p.Ser800=) |
single nucleotide variant |
not provided [RCV002154217] |
Chr5:77421970 [GRCh38]
Chr5:76717795 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.818C>T (p.Thr273Ile) |
single nucleotide variant |
not provided [RCV002254112] |
Chr5:77344873 [GRCh38]
Chr5:76640698 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.930G>A (p.Leu310=) |
single nucleotide variant |
not provided [RCV002137218] |
Chr5:77349472 [GRCh38]
Chr5:76645297 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.2548+15G>A |
single nucleotide variant |
not provided [RCV002157631] |
Chr5:77425911 [GRCh38]
Chr5:76721736 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.339+40123C>T |
single nucleotide variant |
not provided [RCV002122190] |
Chr5:77251387 [GRCh38]
Chr5:76547212 [GRCh37]
Chr5:5q13.3 |
benign |
| NC_000005.9:g.(?_76115008)_(78281071_?)del |
deletion |
Hermansky-Pudlak syndrome 2 [RCV003113301] |
Chr5:76115008..78281071 [GRCh37]
Chr5:5q13.3-14.1 |
pathogenic |
| NM_003719.5(PDE8B):c.783C>T (p.Ser261=) |
single nucleotide variant |
not provided [RCV003112476] |
Chr5:77337301 [GRCh38]
Chr5:76633126 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.971G>A (p.Arg324Gln) |
single nucleotide variant |
not provided [RCV003114149] |
Chr5:77349513 [GRCh38]
Chr5:76645338 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.465T>C (p.Ala155=) |
single nucleotide variant |
not provided [RCV003118663] |
Chr5:77325604 [GRCh38]
Chr5:76621429 [GRCh37]
Chr5:5q13.3 |
likely benign |
| GRCh37/hg19 5q13.3(chr5:76239549-76720244)x3 |
copy number gain |
not provided [RCV002474591] |
Chr5:76239549..76720244 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1355C>T (p.Pro452Leu) |
single nucleotide variant |
not provided [RCV002300380] |
Chr5:77407447 [GRCh38]
Chr5:76703272 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1384G>A (p.Ala462Thr) |
single nucleotide variant |
not provided [RCV002304036] |
Chr5:77408911 [GRCh38]
Chr5:76704736 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2419-8del |
deletion |
not provided [RCV002862610] |
Chr5:77425754 [GRCh38]
Chr5:76721579 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_003719.5(PDE8B):c.73T>G (p.Ser25Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002816853] |
Chr5:77210998 [GRCh38]
Chr5:76506823 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1334A>G (p.His445Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002817142] |
Chr5:77407426 [GRCh38]
Chr5:76703251 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.400-19C>T |
single nucleotide variant |
not provided [RCV002750968] |
Chr5:77325520 [GRCh38]
Chr5:76621345 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1030G>A (p.Val344Ile) |
single nucleotide variant |
not provided [RCV003095785] |
Chr5:77351077 [GRCh38]
Chr5:76646902 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.601G>T (p.Ala201Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002773024] |
Chr5:77329008 [GRCh38]
Chr5:76624833 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.435C>G (p.Ser145Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002840336] |
Chr5:77325574 [GRCh38]
Chr5:76621399 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.205A>G (p.Arg69Gly) |
single nucleotide variant |
not provided [RCV002461872] |
Chr5:77211130 [GRCh38]
Chr5:76506955 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.229G>A (p.Gly77Ser) |
single nucleotide variant |
not provided [RCV002927756] |
Chr5:77211154 [GRCh38]
Chr5:76506979 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1289-12C>T |
single nucleotide variant |
not provided [RCV002696265] |
Chr5:77407369 [GRCh38]
Chr5:76703194 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.574G>A (p.Ala192Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002886866] |
Chr5:77325713 [GRCh38]
Chr5:76621538 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1365+9C>T |
single nucleotide variant |
not provided [RCV002622771] |
Chr5:77407466 [GRCh38]
Chr5:76703291 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1053C>T (p.Ser351=) |
single nucleotide variant |
not provided [RCV002591934] |
Chr5:77351100 [GRCh38]
Chr5:76646925 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.736G>T (p.Ala246Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002888278] |
Chr5:77337254 [GRCh38]
Chr5:76633079 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1827C>G (p.His609Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002949956] |
Chr5:77413225 [GRCh38]
Chr5:76709050 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.169C>G (p.Arg57Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002691391] |
Chr5:77211094 [GRCh38]
Chr5:76506919 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1857T>C (p.His619=) |
single nucleotide variant |
not provided [RCV002576343] |
Chr5:77413255 [GRCh38]
Chr5:76709080 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.2232C>T (p.Asn744=) |
single nucleotide variant |
not provided [RCV002666993] |
Chr5:77419869 [GRCh38]
Chr5:76715694 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.935A>G (p.Lys312Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002712739] |
Chr5:77349477 [GRCh38]
Chr5:76645302 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1168-9C>T |
single nucleotide variant |
PDE8B-related disorder [RCV003936322]|not provided [RCV002800653] |
Chr5:77400239 [GRCh38]
Chr5:76696064 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.876+14C>G |
single nucleotide variant |
not provided [RCV002741070] |
Chr5:77344945 [GRCh38]
Chr5:76640770 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1289-18T>G |
single nucleotide variant |
not provided [RCV002572313] |
Chr5:77407363 [GRCh38]
Chr5:76703188 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2646_2649del (p.Ser883fs) |
deletion |
not provided [RCV003040729] |
Chr5:77426542..77426545 [GRCh38]
Chr5:76722367..76722370 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1107-12A>G |
single nucleotide variant |
not provided [RCV002871663] |
Chr5:77353334 [GRCh38]
Chr5:76649159 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.384G>A (p.Thr128=) |
single nucleotide variant |
not provided [RCV002602256] |
Chr5:77312038 [GRCh38]
Chr5:76607863 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.2130-20T>C |
single nucleotide variant |
not provided [RCV002597406] |
Chr5:77419747 [GRCh38]
Chr5:76715572 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.183C>G (p.Pro61=) |
single nucleotide variant |
not provided [RCV002671032] |
Chr5:77211108 [GRCh38]
Chr5:76506933 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.70A>G (p.Ser24Gly) |
single nucleotide variant |
not provided [RCV003009862] |
Chr5:77210995 [GRCh38]
Chr5:76506820 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1547T>G (p.Leu516Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002920209] |
Chr5:77411692 [GRCh38]
Chr5:76707517 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2129+7T>C |
single nucleotide variant |
not provided [RCV002806495] |
Chr5:77418453 [GRCh38]
Chr5:76714278 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1324G>A (p.Ala442Thr) |
single nucleotide variant |
not provided [RCV003029081] |
Chr5:77407416 [GRCh38]
Chr5:76703241 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1107-15A>T |
single nucleotide variant |
not provided [RCV002581207] |
Chr5:77353331 [GRCh38]
Chr5:76649156 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1365+4A>G |
single nucleotide variant |
not provided [RCV002647567] |
Chr5:77407461 [GRCh38]
Chr5:76703286 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1210+8T>C |
single nucleotide variant |
not provided [RCV002650859] |
Chr5:77400298 [GRCh38]
Chr5:76696123 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.661C>T (p.His221Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002808031] |
Chr5:77331412 [GRCh38]
Chr5:76627237 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.535A>C (p.Ile179Leu) |
single nucleotide variant |
not provided [RCV002963354] |
Chr5:77325674 [GRCh38]
Chr5:76621499 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.218A>C (p.Glu73Ala) |
single nucleotide variant |
not provided [RCV002601183] |
Chr5:77211143 [GRCh38]
Chr5:76506968 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2463G>A (p.Val821=) |
single nucleotide variant |
not provided [RCV002716428] |
Chr5:77425811 [GRCh38]
Chr5:76721636 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.2290A>G (p.Asn764Asp) |
single nucleotide variant |
not provided [RCV002746466] |
Chr5:77421860 [GRCh38]
Chr5:76717685 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2140C>A (p.Arg714=) |
single nucleotide variant |
not provided [RCV002654455] |
Chr5:77419777 [GRCh38]
Chr5:76715602 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.399+4C>T |
single nucleotide variant |
not provided [RCV002658190] |
Chr5:77312057 [GRCh38]
Chr5:76607882 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2318A>G (p.Lys773Arg) |
single nucleotide variant |
not provided [RCV002653284] |
Chr5:77421888 [GRCh38]
Chr5:76717713 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.571G>A (p.Asp191Asn) |
single nucleotide variant |
not provided [RCV002653963] |
Chr5:77325710 [GRCh38]
Chr5:76621535 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.798-13T>C |
single nucleotide variant |
not provided [RCV002586111] |
Chr5:77344840 [GRCh38]
Chr5:76640665 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_003719.5(PDE8B):c.694G>T (p.Ala232Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002612685]|not provided [RCV002590295] |
Chr5:77331445 [GRCh38]
Chr5:76627270 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.326A>G (p.Tyr109Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002723861]|not provided [RCV005099599] |
Chr5:77211251 [GRCh38]
Chr5:76507076 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1712+16G>C |
single nucleotide variant |
not provided [RCV002589129] |
Chr5:77412251 [GRCh38]
Chr5:76708076 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.650+13C>T |
single nucleotide variant |
not provided [RCV002589343] |
Chr5:77329070 [GRCh38]
Chr5:76624895 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.2136T>C (p.His712=) |
single nucleotide variant |
not provided [RCV003131893] |
Chr5:77419773 [GRCh38]
Chr5:76715598 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2242G>A (p.Ala748Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003181334] |
Chr5:77419879 [GRCh38]
Chr5:76715704 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1196A>T (p.Asp399Val) |
single nucleotide variant |
not provided [RCV003322061] |
Chr5:77400276 [GRCh38]
Chr5:76696101 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.328_329del (p.Thr110fs) |
microsatellite |
Inborn genetic diseases [RCV003378681] |
Chr5:77211251..77211252 [GRCh38]
Chr5:76507076..76507077 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_003719.5(PDE8B):c.647G>A (p.Arg216Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003344368] |
Chr5:77329054 [GRCh38]
Chr5:76624879 [GRCh37]
Chr5:5q13.3 |
likely benign |
| GRCh37/hg19 5q13.3-14.1(chr5:76635144-77156308)x1 |
copy number loss |
not provided [RCV003485467] |
Chr5:76635144..77156308 [GRCh37]
Chr5:5q13.3-14.1 |
uncertain significance |
| NM_003719.5(PDE8B):c.1113T>C (p.Ile371=) |
single nucleotide variant |
not provided [RCV003436436] |
Chr5:77353352 [GRCh38]
Chr5:76649177 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.2129+17C>T |
single nucleotide variant |
not specified [RCV003404790] |
Chr5:77418463 [GRCh38]
Chr5:76714288 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.208G>T (p.Ala70Ser) |
single nucleotide variant |
not provided [RCV003436435] |
Chr5:77211133 [GRCh38]
Chr5:76506958 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1908A>G (p.Val636=) |
single nucleotide variant |
not provided [RCV003436437] |
Chr5:77413306 [GRCh38]
Chr5:76709131 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.224G>A (p.Gly75Asp) |
single nucleotide variant |
not provided [RCV003443545] |
Chr5:77211149 [GRCh38]
Chr5:76506974 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1128G>A (p.Ser376=) |
single nucleotide variant |
not provided [RCV003828161] |
Chr5:77353367 [GRCh38]
Chr5:76649192 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.653C>T (p.Ser218Leu) |
single nucleotide variant |
not provided [RCV003547634] |
Chr5:77331404 [GRCh38]
Chr5:76627229 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2166C>T (p.Asp722=) |
single nucleotide variant |
not provided [RCV003715905] |
Chr5:77419803 [GRCh38]
Chr5:76715628 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.94G>A (p.Val32Met) |
single nucleotide variant |
not provided [RCV003575318] |
Chr5:77211019 [GRCh38]
Chr5:76506844 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1168-17C>A |
single nucleotide variant |
not provided [RCV003714984] |
Chr5:77400231 [GRCh38]
Chr5:76696056 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.868G>A (p.Val290Met) |
single nucleotide variant |
not provided [RCV003826698] |
Chr5:77344923 [GRCh38]
Chr5:76640748 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.63C>A (p.Asp21Glu) |
single nucleotide variant |
not provided [RCV003661574] |
Chr5:77210988 [GRCh38]
Chr5:76506813 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2089G>A (p.Val697Ile) |
single nucleotide variant |
not provided [RCV003545559] |
Chr5:77418406 [GRCh38]
Chr5:76714231 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1712+18C>A |
single nucleotide variant |
not provided [RCV003835878] |
Chr5:77412253 [GRCh38]
Chr5:76708078 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.247G>C (p.Ala83Pro) |
single nucleotide variant |
not provided [RCV003548222] |
Chr5:77211172 [GRCh38]
Chr5:76506997 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1035C>T (p.Tyr345=) |
single nucleotide variant |
not provided [RCV003815112] |
Chr5:77351082 [GRCh38]
Chr5:76646907 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1210+18G>C |
single nucleotide variant |
not provided [RCV003672288] |
Chr5:77400308 [GRCh38]
Chr5:76696133 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1622A>G (p.Asn541Ser) |
single nucleotide variant |
not provided [RCV003833030] |
Chr5:77412145 [GRCh38]
Chr5:76707970 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1097del (p.Gly366fs) |
deletion |
not provided [RCV003723375] |
Chr5:77351143 [GRCh38]
Chr5:76646968 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_003719.5(PDE8B):c.21C>A (p.Ile7=) |
single nucleotide variant |
not provided [RCV003670926] |
Chr5:77210946 [GRCh38]
Chr5:76506771 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.877-19A>G |
single nucleotide variant |
not provided [RCV003815120] |
Chr5:77349400 [GRCh38]
Chr5:76645225 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.798-12T>G |
single nucleotide variant |
not provided [RCV003838725] |
Chr5:77344841 [GRCh38]
Chr5:76640666 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.497A>C (p.Glu166Ala) |
single nucleotide variant |
not provided [RCV003836294] |
Chr5:77325636 [GRCh38]
Chr5:76621461 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1107-18C>T |
single nucleotide variant |
not provided [RCV003821770] |
Chr5:77353328 [GRCh38]
Chr5:76649153 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_003719.5(PDE8B):c.2250+10G>A |
single nucleotide variant |
not provided [RCV003821662] |
Chr5:77419897 [GRCh38]
Chr5:76715722 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1639A>G (p.Ile547Val) |
single nucleotide variant |
not provided [RCV003681492] |
Chr5:77412162 [GRCh38]
Chr5:76707987 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2067C>T (p.Thr689=) |
single nucleotide variant |
not provided [RCV003821450] |
Chr5:77418384 [GRCh38]
Chr5:76714209 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1760G>A (p.Cys587Tyr) |
single nucleotide variant |
not provided [RCV003844599] |
Chr5:77413158 [GRCh38]
Chr5:76708983 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2549-16T>A |
single nucleotide variant |
not provided [RCV003675367] |
Chr5:77426429 [GRCh38]
Chr5:76722254 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.84G>A (p.Gln28=) |
single nucleotide variant |
not provided [RCV003843052] |
Chr5:77211009 [GRCh38]
Chr5:76506834 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.78C>A (p.Pro26=) |
single nucleotide variant |
not provided [RCV003843051] |
Chr5:77211003 [GRCh38]
Chr5:76506828 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1335C>T (p.His445=) |
single nucleotide variant |
not provided [RCV003704482] |
Chr5:77407427 [GRCh38]
Chr5:76703252 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.256G>A (p.Ala86Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004371935]|not specified [RCV003995072] |
Chr5:77211181 [GRCh38]
Chr5:76507006 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.129C>T (p.Leu43=) |
single nucleotide variant |
not specified [RCV003988576] |
Chr5:77211054 [GRCh38]
Chr5:76506879 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.895G>T (p.Glu299Ter) |
single nucleotide variant |
PDE8B-Related Disorders [RCV004579632] |
Chr5:77349437 [GRCh38]
Chr5:76645262 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_003719.5(PDE8B):c.1577-5C>T |
single nucleotide variant |
PDE8B-related disorder [RCV003937311] |
Chr5:77412095 [GRCh38]
Chr5:76707920 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.2117A>G (p.Lys706Arg) |
single nucleotide variant |
PDE8B-related disorder [RCV003901404] |
Chr5:77418434 [GRCh38]
Chr5:76714259 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.133G>C (p.Val45Leu) |
single nucleotide variant |
Autosomal dominant striatal neurodegeneration type 1 [RCV004720677]|not provided [RCV005103598] |
Chr5:77211058 [GRCh38]
Chr5:76506883 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2065A>G (p.Thr689Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004503200] |
Chr5:77418382 [GRCh38]
Chr5:76714207 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.811G>C (p.Val271Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004503203]|not provided [RCV005104814] |
Chr5:77344866 [GRCh38]
Chr5:76640691 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1444T>G (p.Leu482Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004659676] |
Chr5:77408971 [GRCh38]
Chr5:76704796 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2344G>A (p.Val782Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004503201] |
Chr5:77421914 [GRCh38]
Chr5:76717739 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.277C>G (p.Arg93Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004503202] |
Chr5:77211202 [GRCh38]
Chr5:76507027 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.11C>T (p.Ala4Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004503199] |
Chr5:77210936 [GRCh38]
Chr5:76506761 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.176C>G (p.Ser59Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004659677] |
Chr5:77211101 [GRCh38]
Chr5:76506926 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.674C>T (p.Ser225Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004655510] |
Chr5:77331425 [GRCh38]
Chr5:76627250 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.63C>G (p.Asp21Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004655507] |
Chr5:77210988 [GRCh38]
Chr5:76506813 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1301A>G (p.Gln434Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004655508] |
Chr5:77407393 [GRCh38]
Chr5:76703218 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1168A>G (p.Ile390Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004659678] |
Chr5:77400248 [GRCh38]
Chr5:76696073 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.148G>A (p.Ala50Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004659679] |
Chr5:77211073 [GRCh38]
Chr5:76506898 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.457G>A (p.Asp153Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004659680] |
Chr5:77325596 [GRCh38]
Chr5:76621421 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1703C>T (p.Thr568Met) |
single nucleotide variant |
not provided [RCV004771332] |
Chr5:77412226 [GRCh38]
Chr5:76708051 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1577-2A>C |
single nucleotide variant |
not provided [RCV004765996] |
Chr5:77412098 [GRCh38]
Chr5:76707923 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1480A>G (p.Thr494Ala) |
single nucleotide variant |
not provided [RCV004764201] |
|
uncertain significance |
| NM_003719.5(PDE8B):c.1720G>T (p.Val574Phe) |
single nucleotide variant |
PDE8B-related disorder [RCV004757642] |
Chr5:77413118 [GRCh38]
Chr5:76708943 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.91A>G (p.Ser31Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004959399] |
Chr5:77211016 [GRCh38]
Chr5:76506841 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.325T>C (p.Tyr109His) |
single nucleotide variant |
Inborn genetic diseases [RCV004959402] |
Chr5:77211250 [GRCh38]
Chr5:76507075 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2279C>A (p.Pro760His) |
single nucleotide variant |
Inborn genetic diseases [RCV004959403] |
Chr5:77421849 [GRCh38]
Chr5:76717674 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2608A>G (p.Thr870Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004959401] |
Chr5:77426504 [GRCh38]
Chr5:76722329 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.556C>G (p.Gln186Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004959400] |
Chr5:77325695 [GRCh38]
Chr5:76621520 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| GRCh37/hg19 5q13.3-14.1(chr5:73744566-79011619)x1 |
copy number loss |
not provided [RCV004819344] |
Chr5:73744566..79011619 [GRCh37]
Chr5:5q13.3-14.1 |
pathogenic |
| NM_003719.5(PDE8B):c.2558A>G (p.His853Arg) |
single nucleotide variant |
not provided [RCV005068086] |
Chr5:77426454 [GRCh38]
Chr5:76722279 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.798-3C>T |
single nucleotide variant |
not provided [RCV005146275] |
Chr5:77344850 [GRCh38]
Chr5:76640675 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.844A>G (p.Ile282Val) |
single nucleotide variant |
not provided [RCV005155789] |
Chr5:77344899 [GRCh38]
Chr5:76640724 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.914A>G (p.His305Arg) |
single nucleotide variant |
not provided [RCV005150882] |
Chr5:77349456 [GRCh38]
Chr5:76645281 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.2190A>G (p.Thr730=) |
single nucleotide variant |
not provided [RCV005155609] |
Chr5:77419827 [GRCh38]
Chr5:76715652 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.710G>A (p.Arg237Lys) |
single nucleotide variant |
not provided [RCV005144194] |
Chr5:77337228 [GRCh38]
Chr5:76633053 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1107-14T>C |
single nucleotide variant |
not provided [RCV005071796] |
Chr5:77353332 [GRCh38]
Chr5:76649157 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.353C>T (p.Ala118Val) |
single nucleotide variant |
not provided [RCV005076390] |
Chr5:77312007 [GRCh38]
Chr5:76607832 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1107-20A>G |
single nucleotide variant |
not provided [RCV005082869] |
Chr5:77353326 [GRCh38]
Chr5:76649151 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1551A>T (p.Ser517=) |
single nucleotide variant |
not provided [RCV005181547] |
Chr5:77411696 [GRCh38]
Chr5:76707521 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.2502C>A (p.Ile834=) |
single nucleotide variant |
not provided [RCV005141604] |
Chr5:77425850 [GRCh38]
Chr5:76721675 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.456C>T (p.Cys152=) |
single nucleotide variant |
not provided [RCV005186974] |
Chr5:77325595 [GRCh38]
Chr5:76621420 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.1544G>C (p.Arg515Thr) |
single nucleotide variant |
not provided [RCV005188097] |
Chr5:77411689 [GRCh38]
Chr5:76707514 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.627G>C (p.Val209=) |
single nucleotide variant |
not provided [RCV005131116] |
Chr5:77329034 [GRCh38]
Chr5:76624859 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_003719.5(PDE8B):c.296G>A (p.Ser99Asn) |
single nucleotide variant |
not provided [RCV005113809] |
Chr5:77211221 [GRCh38]
Chr5:76507046 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.1534G>T (p.Gly512Cys) |
single nucleotide variant |
not provided [RCV005069191] |
Chr5:77411679 [GRCh38]
Chr5:76707504 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_003719.5(PDE8B):c.590+12A>T |
single nucleotide variant |
not provided [RCV005123417] |
Chr5:77325741 [GRCh38]
Chr5:76621566 [GRCh37]
Chr5:5q13.3 |
likely benign |
