| NM_138615.3(DHX30):c.2354G>A (p.Arg785His) |
single nucleotide variant |
Inborn genetic diseases [RCV001265678]|Neurodevelopmental disorder with severe motor impairment and absent language [RCV000558538]|not provided [RCV004721406] |
Chr3:47848247 [GRCh38]
Chr3:47889737 [GRCh37]
Chr3:3p21.31 |
pathogenic|likely pathogenic |
| NM_138615.3(DHX30):c.25A>T (p.Lys9Ter) |
single nucleotide variant |
not provided [RCV003321103] |
Chr3:47810708 [GRCh38]
Chr3:47852198 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4 |
copy number gain |
See cases [RCV000133650] |
Chr3:45879883..50749922 [GRCh38]
Chr3:45921375..50787353 [GRCh37]
Chr3:45896379..50762357 [NCBI36]
Chr3:3p21.31-21.2 |
pathogenic |
| NM_138615.3(DHX30):c.2342G>A (p.Gly781Asp) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV000557070] |
Chr3:47848235 [GRCh38]
Chr3:47889725 [GRCh37]
Chr3:3p21.31 |
pathogenic |
| GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3 |
copy number gain |
See cases [RCV000240519] |
Chr3:37028313..49929220 [GRCh37]
Chr3:3p22.2-21.31 |
likely pathogenic |
| NM_138615.3(DHX30):c.1910A>G (p.His637Arg) |
single nucleotide variant |
not provided [RCV003321451] |
Chr3:47846982 [GRCh38]
Chr3:47888472 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2353C>T (p.Arg785Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV001266616]|Neurodevelopmental disorder with severe motor impairment and absent language [RCV000546135]|not provided [RCV000489269] |
Chr3:47848246 [GRCh38]
Chr3:47889736 [GRCh37]
Chr3:3p21.31 |
pathogenic|likely pathogenic |
| NM_138615.3(DHX30):c.1352C>T (p.Pro451Leu) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV001169947]|not provided [RCV002558696] |
Chr3:47846424 [GRCh38]
Chr3:47887914 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1685A>G (p.His562Arg) |
single nucleotide variant |
Autism [RCV001003584]|Global developmental delay [RCV000454247]|Neurodevelopmental disorder with severe motor impairment and absent language [RCV000544652] |
Chr3:47846757 [GRCh38]
Chr3:47888247 [GRCh37]
Chr3:3p21.31 |
pathogenic|likely pathogenic |
| NM_138615.3(DHX30):c.2344C>T (p.Arg782Trp) |
single nucleotide variant |
Global developmental delay [RCV000416458]|Neurodevelopmental disorder with severe motor impairment and absent language [RCV000537639]|not provided [RCV003151769] |
Chr3:47848237 [GRCh38]
Chr3:47889727 [GRCh37]
Chr3:3p21.31 |
pathogenic |
| NM_138615.3(DHX30):c.1478G>A (p.Arg493His) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV000532178]|Seizure [RCV000416420]|not provided [RCV002251742] |
Chr3:47846550 [GRCh38]
Chr3:47888040 [GRCh37]
Chr3:3p21.31 |
pathogenic |
| NM_138615.3(DHX30):c.451G>T (p.Asp151Tyr) |
single nucleotide variant |
not provided [RCV003313612] |
Chr3:47840961 [GRCh38]
Chr3:47882451 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2723G>A (p.Arg908Gln) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV000626487]|not provided [RCV001764741] |
Chr3:47848771 [GRCh38]
Chr3:47890261 [GRCh37]
Chr3:3p21.31 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 |
copy number gain |
See cases [RCV000511055] |
Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| NM_138615.3(DHX30):c.681T>G (p.Phe227Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003295680] |
Chr3:47841629 [GRCh38]
Chr3:47883119 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) |
copy number gain |
See cases [RCV000512358] |
Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 |
copy number gain |
not provided [RCV000742133] |
Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 |
copy number gain |
not provided [RCV000742138] |
Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| NM_138615.3(DHX30):c.2493+8G>A |
single nucleotide variant |
not provided [RCV000976685] |
Chr3:47848394 [GRCh38]
Chr3:47889884 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.2845G>T (p.Val949Leu) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV001591762] |
Chr3:47848995 [GRCh38]
Chr3:47890485 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3147G>A (p.Arg1049=) |
single nucleotide variant |
not provided [RCV000883622] |
Chr3:47849510 [GRCh38]
Chr3:47891000 [GRCh37]
Chr3:3p21.31 |
benign |
| NM_138615.3(DHX30):c.2930-4C>T |
single nucleotide variant |
not provided [RCV000883621] |
Chr3:47849188 [GRCh38]
Chr3:47890678 [GRCh37]
Chr3:3p21.31 |
benign|likely benign |
| GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) |
copy number gain |
not provided [RCV000767704] |
Chr3:45153770..53878616 [GRCh37]
Chr3:3p21.31-21.1 |
pathogenic |
| NM_138615.3(DHX30):c.1867C>A (p.Leu623Ile) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV000791210] |
Chr3:47846939 [GRCh38]
Chr3:47888429 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| GRCh37/hg19 3p21.31(chr3:47799614-48359988)x3 |
copy number gain |
not provided [RCV000848232] |
Chr3:47799614..48359988 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1390A>G (p.Thr464Ala) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV000987263] |
Chr3:47846462 [GRCh38]
Chr3:47887952 [GRCh37]
Chr3:3p21.31 |
pathogenic |
| NM_138615.3(DHX30):c.1930-1G>T |
single nucleotide variant |
Autism, susceptiblity to [RCV003313023] |
Chr3:47847272 [GRCh38]
Chr3:47888762 [GRCh37]
Chr3:3p21.31 |
pathogenic |
| NM_138615.3(DHX30):c.1384G>A (p.Gly462Arg) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV001198500] |
Chr3:47846456 [GRCh38]
Chr3:47887946 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.503T>G (p.Leu168Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003291042] |
Chr3:47841013 [GRCh38]
Chr3:47882503 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2950G>C (p.Glu984Gln) |
single nucleotide variant |
not provided [RCV004777133] |
Chr3:47849212 [GRCh38]
Chr3:47890702 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3469C>G (p.Leu1157Val) |
single nucleotide variant |
not provided [RCV004786116] |
Chr3:47850004 [GRCh38]
Chr3:47891494 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1053C>T (p.Pro351=) |
single nucleotide variant |
not provided [RCV000885580] |
Chr3:47845813 [GRCh38]
Chr3:47887303 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.3256G>A (p.Val1086Ile) |
single nucleotide variant |
not provided [RCV001241092] |
Chr3:47849694 [GRCh38]
Chr3:47891184 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1123G>C (p.Glu375Gln) |
single nucleotide variant |
not provided [RCV004812646] |
Chr3:47846195 [GRCh38]
Chr3:47887685 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1517A>G (p.Glu506Gly) |
single nucleotide variant |
not provided [RCV002256948] |
Chr3:47846589 [GRCh38]
Chr3:47888079 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1504C>T (p.Arg502Trp) |
single nucleotide variant |
not provided [RCV001546263] |
Chr3:47846576 [GRCh38]
Chr3:47888066 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3183C>T (p.Thr1061=) |
single nucleotide variant |
not provided [RCV001645307] |
Chr3:47849546 [GRCh38]
Chr3:47891036 [GRCh37]
Chr3:3p21.31 |
benign |
| NM_138615.3(DHX30):c.997G>T (p.Ala333Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV001267170] |
Chr3:47845757 [GRCh38]
Chr3:47887247 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3480T>A (p.Leu1160=) |
single nucleotide variant |
not provided [RCV001531391] |
Chr3:47850015 [GRCh38]
Chr3:47891505 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.2098C>T (p.Leu700Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV001266140] |
Chr3:47847524 [GRCh38]
Chr3:47889014 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3208C>T (p.Arg1070Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV001266178] |
Chr3:47849646 [GRCh38]
Chr3:47891136 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.288C>T (p.Ser96=) |
single nucleotide variant |
not provided [RCV004598791] |
Chr3:47829056 [GRCh38]
Chr3:47870546 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.2006-6T>C |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV001330357] |
Chr3:47847426 [GRCh38]
Chr3:47888916 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2311del (p.Val771fs) |
deletion |
not provided [RCV001380590] |
Chr3:47848202 [GRCh38]
Chr3:47889692 [GRCh37]
Chr3:3p21.31 |
pathogenic |
| NM_138615.3(DHX30):c.100A>G (p.Thr34Ala) |
single nucleotide variant |
not provided [RCV001531390] |
Chr3:47818093 [GRCh38]
Chr3:47859583 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3523C>G (p.Leu1175Val) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV001706764] |
Chr3:47850058 [GRCh38]
Chr3:47891548 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.245C>T (p.Pro82Leu) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV003446732]|not provided [RCV001376947] |
Chr3:47827467 [GRCh38]
Chr3:47868957 [GRCh37]
Chr3:3p21.31 |
likely pathogenic|uncertain significance |
| NM_138615.3(DHX30):c.1028G>A (p.Arg343His) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV002244263] |
Chr3:47845788 [GRCh38]
Chr3:47887278 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2988G>A (p.Ser996=) |
single nucleotide variant |
not provided [RCV001727245] |
Chr3:47849250 [GRCh38]
Chr3:47890740 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.1745A>C (p.Asn582Thr) |
single nucleotide variant |
not provided [RCV004784795] |
Chr3:47846817 [GRCh38]
Chr3:47888307 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.952G>A (p.Val318Met) |
single nucleotide variant |
See cases [RCV002252573] |
Chr3:47845712 [GRCh38]
Chr3:47887202 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3001G>A (p.Ala1001Thr) |
single nucleotide variant |
not provided [RCV001769489] |
Chr3:47849263 [GRCh38]
Chr3:47890753 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3064G>A (p.Gly1022Ser) |
single nucleotide variant |
not provided [RCV001774805] |
Chr3:47849326 [GRCh38]
Chr3:47890816 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3532_3542delinsTAGT (p.Leu1178_Gly1181delinsTer) |
indel |
not provided [RCV001773377] |
Chr3:47850067..47850077 [GRCh38]
Chr3:47891557..47891567 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3238G>A (p.Val1080Ile) |
single nucleotide variant |
not provided [RCV001774018] |
Chr3:47849676 [GRCh38]
Chr3:47891166 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3052G>A (p.Val1018Met) |
single nucleotide variant |
not provided [RCV001764117] |
Chr3:47849314 [GRCh38]
Chr3:47890804 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2140_2141delinsGC (p.Lys714Ala) |
indel |
not provided [RCV001764831] |
Chr3:47847810..47847811 [GRCh38]
Chr3:47889300..47889301 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2345G>A (p.Arg782Gln) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV001801336] |
Chr3:47848238 [GRCh38]
Chr3:47889728 [GRCh37]
Chr3:3p21.31 |
pathogenic |
| NM_138615.3(DHX30):c.2099T>G (p.Leu700Arg) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV001837038]|not provided [RCV001768959] |
Chr3:47847525 [GRCh38]
Chr3:47889015 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1511G>C (p.Ser504Thr) |
single nucleotide variant |
not provided [RCV001752367] |
Chr3:47846583 [GRCh38]
Chr3:47888073 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.854C>A (p.Pro285His) |
single nucleotide variant |
not provided [RCV001765410] |
Chr3:47843170 [GRCh38]
Chr3:47884660 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2575+5G>A |
single nucleotide variant |
not provided [RCV001763311] |
Chr3:47848555 [GRCh38]
Chr3:47890045 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2307_2312delinsCAAGAGCCAATGTG (p.Trp770fs) |
indel |
not provided [RCV001771157] |
Chr3:47848200..47848205 [GRCh38]
Chr3:47889690..47889695 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1128C>G (p.Leu376=) |
single nucleotide variant |
not provided [RCV001816351] |
Chr3:47846200 [GRCh38]
Chr3:47887690 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.3484C>A (p.Pro1162Thr) |
single nucleotide variant |
not provided [RCV001816352] |
Chr3:47850019 [GRCh38]
Chr3:47891509 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3282G>T (p.Val1094=) |
single nucleotide variant |
not provided [RCV001815920] |
Chr3:47849720 [GRCh38]
Chr3:47891210 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.1814G>T (p.Gly605Val) |
single nucleotide variant |
not provided [RCV001758598] |
Chr3:47846886 [GRCh38]
Chr3:47888376 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3011_3018del (p.Gln1004fs) |
deletion |
not provided [RCV001806661] |
Chr3:47849272..47849279 [GRCh38]
Chr3:47890762..47890769 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1397G>T (p.Arg466Leu) |
single nucleotide variant |
not provided [RCV004798356] |
Chr3:47846469 [GRCh38]
Chr3:47887959 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1237C>T (p.Leu413Phe) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV001837393] |
Chr3:47846309 [GRCh38]
Chr3:47887799 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2134G>A (p.Asp712Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004041032]|Neurodevelopmental disorder with severe motor impairment and absent language [RCV001839099] |
Chr3:47847804 [GRCh38]
Chr3:47889294 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1420C>G (p.Arg474Gly) |
single nucleotide variant |
not provided [RCV002004654] |
Chr3:47846492 [GRCh38]
Chr3:47887982 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2575+2dup |
duplication |
Inborn genetic diseases [RCV004041027]|Neurodevelopmental disorder with severe motor impairment and absent language [RCV001837358] |
Chr3:47848551..47848552 [GRCh38]
Chr3:47890041..47890042 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_138615.3(DHX30):c.1334A>G (p.Asn445Ser) |
single nucleotide variant |
not provided [RCV002223389]|not specified [RCV003317581] |
Chr3:47846406 [GRCh38]
Chr3:47887896 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.618C>A (p.Asp206Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003093903]|Neurodevelopmental disorder with severe motor impairment and absent language [RCV002227797] |
Chr3:47841128 [GRCh38]
Chr3:47882618 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_138615.3(DHX30):c.2387C>G (p.Pro796Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003094057]|Neurodevelopmental disorder with severe motor impairment and absent language [RCV004729113]|not specified [RCV002247132] |
Chr3:47848280 [GRCh38]
Chr3:47889770 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NC_000003.11:g.(?_45435946)_(49137751_?)dup |
duplication |
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003116297] |
Chr3:45435946..49137751 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NC_000003.11:g.(?_47422587)_(47919033_?)dup |
duplication |
not provided [RCV003119596] |
Chr3:47422587..47919033 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3545C>G (p.Pro1182Arg) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV004784994] |
Chr3:47850080 [GRCh38]
Chr3:47891570 [GRCh37]
Chr3:3p21.31 |
likely pathogenic |
| NM_138615.3(DHX30):c.3403G>A (p.Val1135Met) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV003146069]|not provided [RCV004696319] |
Chr3:47849938 [GRCh38]
Chr3:47891428 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2245A>G (p.Ser749Gly) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV003146070] |
Chr3:47847915 [GRCh38]
Chr3:47889405 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2929+2T>C |
single nucleotide variant |
See cases [RCV003128539] |
Chr3:47849081 [GRCh38]
Chr3:47890571 [GRCh37]
Chr3:3p21.31 |
likely pathogenic |
| NM_138615.3(DHX30):c.2393G>A (p.Ser798Asn) |
single nucleotide variant |
not provided [RCV003128903] |
Chr3:47848286 [GRCh38]
Chr3:47889776 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.270C>A (p.His90Gln) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV003146075] |
Chr3:47829038 [GRCh38]
Chr3:47870528 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1624C>T (p.Arg542Cys) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV003146077] |
Chr3:47846696 [GRCh38]
Chr3:47888186 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.647A>G (p.His216Arg) |
single nucleotide variant |
not provided [RCV003235939] |
Chr3:47841157 [GRCh38]
Chr3:47882647 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.677C>T (p.Ser226Phe) |
single nucleotide variant |
not provided [RCV002267334] |
Chr3:47841625 [GRCh38]
Chr3:47883115 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1325C>T (p.Thr442Ile) |
single nucleotide variant |
not provided [RCV002293918] |
Chr3:47846397 [GRCh38]
Chr3:47887887 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.73C>T (p.Arg25Cys) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV003146078] |
Chr3:47818066 [GRCh38]
Chr3:47859556 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.509C>G (p.Pro170Arg) |
single nucleotide variant |
DHX30-related disorder [RCV003928956]|Inborn genetic diseases [RCV003239324]|Neurodevelopmental disorder with severe motor impairment and absent language [RCV003146079] |
Chr3:47841019 [GRCh38]
Chr3:47882509 [GRCh37]
Chr3:3p21.31 |
likely benign|uncertain significance |
| NM_138615.3(DHX30):c.3131A>G (p.Asn1044Ser) |
single nucleotide variant |
not provided [RCV002269651] |
Chr3:47849494 [GRCh38]
Chr3:47890984 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2453A>C (p.Asn818Thr) |
single nucleotide variant |
not provided [RCV003235996] |
Chr3:47848346 [GRCh38]
Chr3:47889836 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1948C>T (p.Leu650Phe) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV003146071] |
Chr3:47847291 [GRCh38]
Chr3:47888781 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1666G>A (p.Val556Ile) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV003146074] |
Chr3:47846738 [GRCh38]
Chr3:47888228 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1109C>T (p.Ser370Leu) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV003146076] |
Chr3:47846181 [GRCh38]
Chr3:47887671 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3287C>T (p.Pro1096Leu) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV003146068] |
Chr3:47849725 [GRCh38]
Chr3:47891215 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3214C>T (p.Arg1072Ter) |
single nucleotide variant |
not provided [RCV002293875] |
Chr3:47849652 [GRCh38]
Chr3:47891142 [GRCh37]
Chr3:3p21.31 |
likely pathogenic|uncertain significance |
| NM_138615.3(DHX30):c.1472C>G (p.Pro491Arg) |
single nucleotide variant |
not provided [RCV002269732] |
Chr3:47846544 [GRCh38]
Chr3:47888034 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.873dup (p.Ala292fs) |
duplication |
not provided [RCV002285629] |
Chr3:47843187..47843188 [GRCh38]
Chr3:47884677..47884678 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1 |
copy number loss |
not provided [RCV002279744] |
Chr3:44948482..49115809 [GRCh37]
Chr3:3p21.31 |
pathogenic |
| NM_138615.3(DHX30):c.577G>A (p.Glu193Lys) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV003146072] |
Chr3:47841087 [GRCh38]
Chr3:47882577 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2389C>T (p.Arg797Ter) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV003152584] |
Chr3:47848282 [GRCh38]
Chr3:47889772 [GRCh37]
Chr3:3p21.31 |
pathogenic |
| NM_138615.3(DHX30):c.2875G>A (p.Glu959Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003300402] |
Chr3:47849025 [GRCh38]
Chr3:47890515 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1756C>G (p.Arg586Gly) |
single nucleotide variant |
not provided [RCV002474251] |
Chr3:47846828 [GRCh38]
Chr3:47888318 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3539G>A (p.Arg1180Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002681990]|not provided [RCV004775312] |
Chr3:47850074 [GRCh38]
Chr3:47891564 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.882G>A (p.Gly294=) |
single nucleotide variant |
not provided [RCV002512225] |
Chr3:47843198 [GRCh38]
Chr3:47884688 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.929A>G (p.Lys310Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002778797]|not provided [RCV003883902] |
Chr3:47843245 [GRCh38]
Chr3:47884735 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.3379C>T (p.Arg1127Trp) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV002510690] |
Chr3:47849914 [GRCh38]
Chr3:47891404 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.560G>A (p.Arg187Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002972836] |
Chr3:47841070 [GRCh38]
Chr3:47882560 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.3407G>A (p.Arg1136Gln) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV002510698] |
Chr3:47849942 [GRCh38]
Chr3:47891432 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.536G>T (p.Gly179Val) |
single nucleotide variant |
not provided [RCV002462618] |
Chr3:47841046 [GRCh38]
Chr3:47882536 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1841T>C (p.Phe614Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002779016] |
Chr3:47846913 [GRCh38]
Chr3:47888403 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.2854T>C (p.Trp952Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002793977] |
Chr3:47849004 [GRCh38]
Chr3:47890494 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3262G>A (p.Val1088Ile) |
single nucleotide variant |
not provided [RCV002462595] |
Chr3:47849700 [GRCh38]
Chr3:47891190 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3082A>G (p.Ile1028Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002848864] |
Chr3:47849344 [GRCh38]
Chr3:47890834 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3202C>T (p.Arg1068Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002949892] |
Chr3:47849640 [GRCh38]
Chr3:47891130 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.959G>A (p.Arg320Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002925031] |
Chr3:47845719 [GRCh38]
Chr3:47887209 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3500A>G (p.Glu1167Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002798467] |
Chr3:47850035 [GRCh38]
Chr3:47891525 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3319G>A (p.Val1107Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002823558] |
Chr3:47849757 [GRCh38]
Chr3:47891247 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1039A>G (p.Thr347Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002763789] |
Chr3:47845799 [GRCh38]
Chr3:47887289 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1336G>A (p.Ala446Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002645279] |
Chr3:47846408 [GRCh38]
Chr3:47887898 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1984A>G (p.Ile662Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002787896] |
Chr3:47847327 [GRCh38]
Chr3:47888817 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1748C>T (p.Pro583Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002769818] |
Chr3:47846820 [GRCh38]
Chr3:47888310 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1267C>T (p.Arg423Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002718279] |
Chr3:47846339 [GRCh38]
Chr3:47887829 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1145A>T (p.Asp382Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002897178] |
Chr3:47846217 [GRCh38]
Chr3:47887707 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2345G>C (p.Arg782Pro) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV003152925] |
Chr3:47848238 [GRCh38]
Chr3:47889728 [GRCh37]
Chr3:3p21.31 |
likely pathogenic |
| NM_138615.3(DHX30):c.604A>G (p.Ile202Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002722960] |
Chr3:47841114 [GRCh38]
Chr3:47882604 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.2653A>G (p.Lys885Glu) |
single nucleotide variant |
not provided [RCV004795140] |
Chr3:47848701 [GRCh38]
Chr3:47890191 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1822G>A (p.Val608Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003173195] |
Chr3:47846894 [GRCh38]
Chr3:47888384 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.1234C>T (p.Arg412Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003206495]|Neurodevelopmental disorder with severe motor impairment and absent language [RCV003989824]|not specified [RCV003388175] |
Chr3:47846306 [GRCh38]
Chr3:47887796 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2493+19G>T |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV003225910] |
Chr3:47848405 [GRCh38]
Chr3:47889895 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.443C>A (p.Ser148Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003210397] |
Chr3:47840953 [GRCh38]
Chr3:47882443 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2359C>T (p.Gln787Ter) |
single nucleotide variant |
not provided [RCV003322236] |
Chr3:47848252 [GRCh38]
Chr3:47889742 [GRCh37]
Chr3:3p21.31 |
likely pathogenic |
| NM_138615.3(DHX30):c.1118C>T (p.Ala373Val) |
single nucleotide variant |
not provided [RCV003318862] |
Chr3:47846190 [GRCh38]
Chr3:47887680 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2314T>G (p.Ser772Ala) |
single nucleotide variant |
not provided [RCV003318762] |
Chr3:47848207 [GRCh38]
Chr3:47889697 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2335C>T (p.Arg779Cys) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV003322683] |
Chr3:47848228 [GRCh38]
Chr3:47889718 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2266C>T (p.Arg756Cys) |
single nucleotide variant |
not provided [RCV003319104] |
Chr3:47847936 [GRCh38]
Chr3:47889426 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3263_3266del (p.Val1088fs) |
deletion |
not provided [RCV003325643] |
Chr3:47849699..47849702 [GRCh38]
Chr3:47891189..47891192 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.258A>G (p.Lys86=) |
single nucleotide variant |
not provided [RCV003328945] |
Chr3:47829026 [GRCh38]
Chr3:47870516 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2423T>A (p.Val808Glu) |
single nucleotide variant |
not provided [RCV003328768] |
Chr3:47848316 [GRCh38]
Chr3:47889806 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.433C>G (p.Arg145Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003342559] |
Chr3:47840943 [GRCh38]
Chr3:47882433 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.1480A>C (p.Ile494Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003342162] |
Chr3:47846552 [GRCh38]
Chr3:47888042 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3579C>A (p.Asp1193Glu) |
single nucleotide variant |
not provided [RCV003332747] |
Chr3:47850114 [GRCh38]
Chr3:47891604 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2880T>G (p.Asn960Lys) |
single nucleotide variant |
not specified [RCV003331847] |
Chr3:47849030 [GRCh38]
Chr3:47890520 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2060G>A (p.Arg687His) |
single nucleotide variant |
Inborn genetic diseases [RCV003374635] |
Chr3:47847486 [GRCh38]
Chr3:47888976 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1420C>T (p.Arg474Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003373125] |
Chr3:47846492 [GRCh38]
Chr3:47887982 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.808A>G (p.Thr270Ala) |
single nucleotide variant |
not provided [RCV003443410] |
Chr3:47843124 [GRCh38]
Chr3:47884614 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3088-4G>A |
single nucleotide variant |
not provided [RCV003433567] |
Chr3:47849447 [GRCh38]
Chr3:47890937 [GRCh37]
Chr3:3p21.31 |
likely benign |
| GRCh37/hg19 3p21.31(chr3:47720958-48490193)x3 |
copy number gain |
not provided [RCV003484129] |
Chr3:47720958..48490193 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1995C>A (p.Arg665=) |
single nucleotide variant |
not provided [RCV003437818] |
Chr3:47847338 [GRCh38]
Chr3:47888828 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.3407_3469del (p.Arg1136_Glu1156del) |
deletion |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV004788663] |
Chr3:47849940..47850002 [GRCh38]
Chr3:47891430..47891492 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.912G>A (p.Ala304=) |
single nucleotide variant |
not provided [RCV003437814] |
Chr3:47843228 [GRCh38]
Chr3:47884718 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.3075C>A (p.Pro1025=) |
single nucleotide variant |
not provided [RCV003437819] |
Chr3:47849337 [GRCh38]
Chr3:47890827 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.3519G>A (p.Ala1173=) |
single nucleotide variant |
not provided [RCV003437821] |
Chr3:47850054 [GRCh38]
Chr3:47891544 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.1772G>A (p.Ser591Asn) |
single nucleotide variant |
not provided [RCV003443888] |
Chr3:47846844 [GRCh38]
Chr3:47888334 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2129T>C (p.Met710Thr) |
single nucleotide variant |
not provided [RCV003442420] |
Chr3:47847799 [GRCh38]
Chr3:47889289 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2680C>T (p.Arg894Cys) |
single nucleotide variant |
not provided [RCV004787241] |
Chr3:47848728 [GRCh38]
Chr3:47890218 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1669A>C (p.Ile557Leu) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV004785914] |
Chr3:47846741 [GRCh38]
Chr3:47888231 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.668+5A>G |
single nucleotide variant |
not provided [RCV003433563] |
Chr3:47841183 [GRCh38]
Chr3:47882673 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2814C>T (p.Ala938=) |
single nucleotide variant |
not provided [RCV003433566] |
Chr3:47848964 [GRCh38]
Chr3:47890454 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.1986C>T (p.Ile662=) |
single nucleotide variant |
not provided [RCV003437817] |
Chr3:47847329 [GRCh38]
Chr3:47888819 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.3298C>T (p.Leu1100=) |
single nucleotide variant |
not provided [RCV003433568] |
Chr3:47849736 [GRCh38]
Chr3:47891226 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.1778C>T (p.Thr593Ile) |
single nucleotide variant |
DHX30-related disorder [RCV003404210] |
Chr3:47846850 [GRCh38]
Chr3:47888340 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1913_1924del (p.Arg638_His641del) |
deletion |
DHX30-related disorder [RCV003402274] |
Chr3:47846980..47846991 [GRCh38]
Chr3:47888470..47888481 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.441_442delinsGA (p.Ser148Thr) |
indel |
not specified [RCV003405110] |
Chr3:47840951..47840952 [GRCh38]
Chr3:47882441..47882442 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1945G>A (p.Ala649Thr) |
single nucleotide variant |
not provided [RCV003437816] |
Chr3:47847288 [GRCh38]
Chr3:47888778 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.1129C>T (p.Arg377Trp) |
single nucleotide variant |
not provided [RCV003433564] |
Chr3:47846201 [GRCh38]
Chr3:47887691 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.521G>A (p.Arg174Gln) |
single nucleotide variant |
not specified [RCV003388370] |
Chr3:47841031 [GRCh38]
Chr3:47882521 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.450C>T (p.Ala150=) |
single nucleotide variant |
not provided [RCV003437813] |
Chr3:47840960 [GRCh38]
Chr3:47882450 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.633C>T (p.Thr211=) |
single nucleotide variant |
not provided [RCV003433562] |
Chr3:47841143 [GRCh38]
Chr3:47882633 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.2331C>T (p.Ile777=) |
single nucleotide variant |
DHX30-related disorder [RCV003919182]|not provided [RCV003433565] |
Chr3:47848224 [GRCh38]
Chr3:47889714 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.75C>G (p.Arg25=) |
single nucleotide variant |
not provided [RCV003437812] |
Chr3:47818068 [GRCh38]
Chr3:47859558 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.1292C>T (p.Ala431Val) |
single nucleotide variant |
not provided [RCV003437815] |
Chr3:47846364 [GRCh38]
Chr3:47887854 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.3192-3T>C |
single nucleotide variant |
DHX30-related disorder [RCV003938986]|not provided [RCV003437820] |
Chr3:47849627 [GRCh38]
Chr3:47891117 [GRCh37]
Chr3:3p21.31 |
benign |
| NM_138615.3(DHX30):c.673A>T (p.Ser225Cys) |
single nucleotide variant |
DHX30-related disorder [RCV003404441] |
Chr3:47841621 [GRCh38]
Chr3:47883111 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1510A>G (p.Ser504Gly) |
single nucleotide variant |
not provided [RCV003694449] |
Chr3:47846582 [GRCh38]
Chr3:47888072 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| GRCh37/hg19 3p21.31(chr3:47405305-47880799)x3 |
copy number gain |
not specified [RCV003986460] |
Chr3:47405305..47880799 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2085C>T (p.His695=) |
single nucleotide variant |
DHX30-related disorder [RCV003976582] |
Chr3:47847511 [GRCh38]
Chr3:47889001 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.630G>A (p.Met210Ile) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV003993545] |
Chr3:47841140 [GRCh38]
Chr3:47882630 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2770-7C>T |
single nucleotide variant |
not provided [RCV003887467] |
Chr3:47848913 [GRCh38]
Chr3:47890403 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2682T>C (p.Arg894=) |
single nucleotide variant |
DHX30-related disorder [RCV003949783] |
Chr3:47848730 [GRCh38]
Chr3:47890220 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.3439C>T (p.Arg1147Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004373524] |
Chr3:47849974 [GRCh38]
Chr3:47891464 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.3505G>A (p.Gly1169Arg) |
single nucleotide variant |
not provided [RCV003885552] |
Chr3:47850040 [GRCh38]
Chr3:47891530 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.1448G>A (p.Arg483His) |
single nucleotide variant |
Inborn genetic diseases [RCV004373520] |
Chr3:47846520 [GRCh38]
Chr3:47888010 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.2142G>A (p.Lys714=) |
single nucleotide variant |
DHX30-related disorder [RCV003976773] |
Chr3:47847812 [GRCh38]
Chr3:47889302 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.3564G>A (p.Val1188=) |
single nucleotide variant |
not provided [RCV003887183] |
Chr3:47850099 [GRCh38]
Chr3:47891589 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.2707G>A (p.Val903Ile) |
single nucleotide variant |
not provided [RCV003887199] |
Chr3:47848755 [GRCh38]
Chr3:47890245 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2997C>T (p.Thr999=) |
single nucleotide variant |
DHX30-related disorder [RCV003949185] |
Chr3:47849259 [GRCh38]
Chr3:47890749 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.2597A>T (p.Tyr866Phe) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV003988994] |
Chr3:47848645 [GRCh38]
Chr3:47890135 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.517A>G (p.Ile173Val) |
single nucleotide variant |
DHX30-related disorder [RCV003922146] |
Chr3:47841027 [GRCh38]
Chr3:47882517 [GRCh37]
Chr3:3p21.31 |
benign |
| NM_138615.3(DHX30):c.1821C>T (p.Pro607=) |
single nucleotide variant |
DHX30-related disorder [RCV003944651] |
Chr3:47846893 [GRCh38]
Chr3:47888383 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.3088-19T>G |
single nucleotide variant |
not specified [RCV004527083] |
Chr3:47849432 [GRCh38]
Chr3:47890922 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.2232G>C (p.Val744=) |
single nucleotide variant |
DHX30-related disorder [RCV003959597] |
Chr3:47847902 [GRCh38]
Chr3:47889392 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.3380G>T (p.Arg1127Leu) |
single nucleotide variant |
not provided [RCV003887402] |
Chr3:47849915 [GRCh38]
Chr3:47891405 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2637C>T (p.Thr879=) |
single nucleotide variant |
DHX30-related disorder [RCV003914105] |
Chr3:47848685 [GRCh38]
Chr3:47890175 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.1593C>T (p.Ala531=) |
single nucleotide variant |
not provided [RCV003884922] |
Chr3:47846665 [GRCh38]
Chr3:47888155 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.2626C>T (p.His876Tyr) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV003992644] |
Chr3:47848674 [GRCh38]
Chr3:47890164 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.2706C>T (p.Val902=) |
single nucleotide variant |
DHX30-related disorder [RCV003967299] |
Chr3:47848754 [GRCh38]
Chr3:47890244 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.2895C>T (p.Asn965=) |
single nucleotide variant |
DHX30-related disorder [RCV003974211]|not provided [RCV004546845] |
Chr3:47849045 [GRCh38]
Chr3:47890535 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.1580C>T (p.Ser527Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004373521] |
Chr3:47846652 [GRCh38]
Chr3:47888142 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1805A>T (p.Tyr602Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004373522] |
Chr3:47846877 [GRCh38]
Chr3:47888367 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.2859G>A (p.Gln953=) |
single nucleotide variant |
not provided [RCV003885890] |
Chr3:47849009 [GRCh38]
Chr3:47890499 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.3427C>T (p.Arg1143Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004373523] |
Chr3:47849962 [GRCh38]
Chr3:47891452 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.3499G>C (p.Glu1167Gln) |
single nucleotide variant |
not specified [RCV004690753] |
Chr3:47850034 [GRCh38]
Chr3:47891524 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2026C>T (p.Pro676Ser) |
single nucleotide variant |
not provided [RCV004590747] |
Chr3:47847452 [GRCh38]
Chr3:47888942 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2942A>C (p.Gln981Pro) |
single nucleotide variant |
not provided [RCV004590945] |
Chr3:47849204 [GRCh38]
Chr3:47890694 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2291C>T (p.Ser764Phe) |
single nucleotide variant |
not provided [RCV004699100] |
Chr3:47848184 [GRCh38]
Chr3:47889674 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1397G>C (p.Arg466Pro) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV004594932] |
Chr3:47846469 [GRCh38]
Chr3:47887959 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.256-3C>T |
single nucleotide variant |
not provided [RCV004697526] |
Chr3:47829021 [GRCh38]
Chr3:47870511 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3107C>A (p.Thr1036Asn) |
single nucleotide variant |
not provided [RCV004592352] |
Chr3:47849470 [GRCh38]
Chr3:47890960 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.492del (p.Trp165fs) |
deletion |
not provided [RCV004593510] |
Chr3:47841001 [GRCh38]
Chr3:47882491 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1231G>A (p.Val411Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004614178] |
Chr3:47846303 [GRCh38]
Chr3:47887793 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.479T>C (p.Met160Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004614180] |
Chr3:47840989 [GRCh38]
Chr3:47882479 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3548G>C (p.Cys1183Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004614179]|Neurodevelopmental disorder with severe motor impairment and absent language [RCV004784212] |
Chr3:47850083 [GRCh38]
Chr3:47891573 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.3329G>A (p.Arg1110His) |
single nucleotide variant |
Inborn genetic diseases [RCV004614181] |
Chr3:47849767 [GRCh38]
Chr3:47891257 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.28+2T>C |
single nucleotide variant |
not provided [RCV004761023] |
|
uncertain significance |
| NM_138615.3(DHX30):c.2954A>C (p.Asn985Thr) |
single nucleotide variant |
not provided [RCV004765981] |
Chr3:47849216 [GRCh38]
Chr3:47890706 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1613G>A (p.Gly538Asp) |
single nucleotide variant |
not provided [RCV004721949] |
Chr3:47846685 [GRCh38]
Chr3:47888175 [GRCh37]
Chr3:3p21.31 |
pathogenic |
| NM_138615.3(DHX30):c.1672G>A (p.Val558Met) |
single nucleotide variant |
not provided [RCV004726034] |
Chr3:47846744 [GRCh38]
Chr3:47888234 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1030C>T (p.Arg344Ter) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV004795518] |
Chr3:47845790 [GRCh38]
Chr3:47887280 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1587C>T (p.Gly529=) |
single nucleotide variant |
not provided [RCV004811685] |
Chr3:47846659 [GRCh38]
Chr3:47888149 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.3513_3556del (p.Leu1171_Leu1172insTer) |
deletion |
not provided [RCV004774014] |
Chr3:47850041..47850084 [GRCh38]
Chr3:47891531..47891574 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2308T>C (p.Trp770Arg) |
single nucleotide variant |
not provided [RCV004768075] |
Chr3:47848201 [GRCh38]
Chr3:47889691 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.797T>C (p.Met266Thr) |
single nucleotide variant |
not provided [RCV004761070] |
|
uncertain significance |
| NM_138615.3(DHX30):c.314A>G (p.Lys105Arg) |
single nucleotide variant |
not provided [RCV004761647] |
|
uncertain significance |
| NM_138615.3(DHX30):c.1278G>A (p.Pro426=) |
single nucleotide variant |
DHX30-related disorder [RCV004754021] |
Chr3:47846350 [GRCh38]
Chr3:47887840 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.2320G>A (p.Ala774Thr) |
single nucleotide variant |
not provided [RCV005052603] |
Chr3:47848213 [GRCh38]
Chr3:47889703 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1924C>T (p.His642Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004976835] |
Chr3:47846996 [GRCh38]
Chr3:47888486 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1126C>T (p.Leu376Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004976832] |
Chr3:47846198 [GRCh38]
Chr3:47887688 [GRCh37]
Chr3:3p21.31 |
likely benign |
| NM_138615.3(DHX30):c.2215A>G (p.Thr739Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004976836]|Neurodevelopmental disorder with severe motor impairment and absent language [RCV005055409] |
Chr3:47847885 [GRCh38]
Chr3:47889375 [GRCh37]
Chr3:3p21.31 |
likely pathogenic|uncertain significance |
| NM_138615.3(DHX30):c.3380G>A (p.Arg1127Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004976833] |
Chr3:47849915 [GRCh38]
Chr3:47891405 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1439G>A (p.Arg480Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004976834] |
Chr3:47846511 [GRCh38]
Chr3:47888001 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.2735G>C (p.Ser912Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004976837] |
Chr3:47848783 [GRCh38]
Chr3:47890273 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.115A>G (p.Ile39Val) |
single nucleotide variant |
not provided [RCV005004053] |
Chr3:47818108 [GRCh38]
Chr3:47859598 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.1559G>C (p.Arg520Pro) |
single nucleotide variant |
Neurodevelopmental disorder with severe motor impairment and absent language [RCV005229618] |
Chr3:47846631 [GRCh38]
Chr3:47888121 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
| NM_138615.3(DHX30):c.366+3G>C |
single nucleotide variant |
not provided [RCV005163175] |
Chr3:47829137 [GRCh38]
Chr3:47870627 [GRCh37]
Chr3:3p21.31 |
uncertain significance |
