NM_000796.6(DRD3):c.25G>A (p.Gly9Ser) |
single nucleotide variant |
DRD3-related disorder [RCV003974838]|Essential tremor, susceptibility to [RCV000018258]|Schizophrenia, susceptibility to [RCV000018257]|Tremor, hereditary essential, 1 [RCV000381906]|not provided [RCV004710442]|not specified [RCV000613256] |
Chr3:114171968 [GRCh38] Chr3:113890815 [GRCh37] Chr3:3q13.31 |
risk factor|benign|likely benign |
GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)x1 |
copy number loss |
See cases [RCV000050766] |
Chr3:112168829..117393356 [GRCh38] Chr3:111887676..117112203 [GRCh37] Chr3:113370366..118594893 [NCBI36] Chr3:3q13.2-13.31 |
pathogenic |
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 |
copy number loss |
See cases [RCV000051543] |
Chr3:93886671..123216683 [GRCh38] Chr3:93605515..122935530 [GRCh37] Chr3:95088205..124418220 [NCBI36] Chr3:3q11.1-21.1 |
pathogenic |
GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1 |
copy number loss |
See cases [RCV000051544] |
Chr3:108242572..116169331 [GRCh38] Chr3:107961419..115888178 [GRCh37] Chr3:109444109..117370868 [NCBI36] Chr3:3q13.13-13.31 |
pathogenic |
GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1 |
copy number loss |
See cases [RCV000051545] |
Chr3:112479482..115774102 [GRCh38] Chr3:112198329..115492949 [GRCh37] Chr3:113681019..116975639 [NCBI36] Chr3:3q13.2-13.31 |
pathogenic |
GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3 |
copy number gain |
See cases [RCV000051722] |
Chr3:104621220..116093884 [GRCh38] Chr3:104340064..115812731 [GRCh37] Chr3:105822754..117295421 [NCBI36] Chr3:3q13.11-13.31 |
pathogenic |
NM_000796.6(DRD3):c.117C>T (p.Leu39=) |
single nucleotide variant |
not provided [RCV004721751] |
Chr3:114171876 [GRCh38] Chr3:113890723 [GRCh37] Chr3:115373413 [NCBI36] Chr3:3q13.31 |
likely benign|not provided |
GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1 |
copy number loss |
See cases [RCV000135320] |
Chr3:93819623..116887056 [GRCh38] Chr3:93538467..116605903 [GRCh37] Chr3:95021157..118088593 [NCBI36] Chr3:3q11.1-13.31 |
pathogenic |
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 |
copy number gain |
See cases [RCV000134948] |
Chr3:103426882..198110178 [GRCh38] Chr3:103145726..197837049 [GRCh37] Chr3:104628416..199321446 [NCBI36] Chr3:3q13.11-29 |
pathogenic |
GRCh38/hg38 3q13.2-13.31(chr3:112465096-115774102)x1 |
copy number loss |
See cases [RCV000135592] |
Chr3:112465096..115774102 [GRCh38] Chr3:112183943..115492949 [GRCh37] Chr3:113666633..116975639 [NCBI36] Chr3:3q13.2-13.31 |
likely pathogenic |
GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1 |
copy number loss |
See cases [RCV000138186] |
Chr3:97795369..115663349 [GRCh38] Chr3:97514213..115382196 [GRCh37] Chr3:98996903..116864886 [NCBI36] Chr3:3q11.2-13.31 |
pathogenic|uncertain significance |
GRCh38/hg38 3q13.2-13.31(chr3:112465094-115774111)x1 |
copy number loss |
See cases [RCV000138434] |
Chr3:112465094..115774111 [GRCh38] Chr3:112183941..115492958 [GRCh37] Chr3:113666631..116975648 [NCBI36] Chr3:3q13.2-13.31 |
pathogenic |
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 |
copy number loss |
See cases [RCV000139033] |
Chr3:112620977..128734134 [GRCh38] Chr3:112339824..128452977 [GRCh37] Chr3:113822514..129935667 [NCBI36] Chr3:3q13.2-21.3 |
pathogenic |
GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1 |
copy number loss |
See cases [RCV000142009] |
Chr3:114122562..124532374 [GRCh38] Chr3:113841409..124251221 [GRCh37] Chr3:115324099..125733911 [NCBI36] Chr3:3q13.31-21.2 |
pathogenic |
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 |
copy number gain |
See cases [RCV000142340] |
Chr3:93800620..145695381 [GRCh38] Chr3:93519464..145413168 [GRCh37] Chr3:95002154..146895858 [NCBI36] Chr3:3q11.1-24 |
pathogenic |
GRCh38/hg38 3q13.2-13.31(chr3:112425234-115795585)x1 |
copy number loss |
See cases [RCV000142219] |
Chr3:112425234..115795585 [GRCh38] Chr3:112144081..115514432 [GRCh37] Chr3:113626771..116997122 [NCBI36] Chr3:3q13.2-13.31 |
pathogenic |
GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1 |
copy number loss |
See cases [RCV000142725] |
Chr3:112520553..120031022 [GRCh38] Chr3:112239400..119749869 [GRCh37] Chr3:113722090..121232559 [NCBI36] Chr3:3q13.2-13.33 |
pathogenic |
NM_000796.6(DRD3):c.987A>G (p.Gln329=) |
single nucleotide variant |
Tremor, hereditary essential, 1 [RCV000260664]|not provided [RCV000953478] |
Chr3:114131137 [GRCh38] Chr3:113849984 [GRCh37] Chr3:3q13.31 |
benign|likely benign |
NM_000796.6(DRD3):c.-153T>G |
single nucleotide variant |
Tremor, hereditary essential, 1 [RCV000284814] |
Chr3:114178774 [GRCh38] Chr3:113897621 [GRCh37] Chr3:3q13.31 |
likely benign|uncertain significance |
NM_000796.6(DRD3):c.-286A>C |
single nucleotide variant |
Tremor, hereditary essential, 1 [RCV000281412] |
Chr3:114178907 [GRCh38] Chr3:113897754 [GRCh37] Chr3:3q13.31 |
likely benign |
NM_000796.6(DRD3):c.691T>A (p.Cys231Ser) |
single nucleotide variant |
DRD3-related disorder [RCV003972443]|Tremor, hereditary essential, 1 [RCV000275832] |
Chr3:114139532 [GRCh38] Chr3:113858379 [GRCh37] Chr3:3q13.31 |
likely benign|uncertain significance |
NM_000796.6(DRD3):c.270+14A>G |
single nucleotide variant |
Hereditary essential tremor [RCV000272180] |
Chr3:114171709 [GRCh38] Chr3:113890556 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NM_000796.6(DRD3):c.-281A>G |
single nucleotide variant |
Hereditary essential tremor [RCV000397000] |
Chr3:114178902 [GRCh38] Chr3:113897749 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NM_000796.6(DRD3):c.-333G>A |
single nucleotide variant |
Tremor, hereditary essential, 1 [RCV000398553]|not provided [RCV004715997] |
Chr3:114178954 [GRCh38] Chr3:113897801 [GRCh37] Chr3:3q13.31 |
benign|likely benign |
NM_000796.6(DRD3):c.-318C>T |
single nucleotide variant |
Hereditary essential tremor [RCV000336537] |
Chr3:114178939 [GRCh38] Chr3:113897786 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NM_000796.6(DRD3):c.1077C>T (p.His359=) |
single nucleotide variant |
Tremor, hereditary essential, 1 [RCV000355960]|not provided [RCV000953477] |
Chr3:114128842 [GRCh38] Chr3:113847689 [GRCh37] Chr3:3q13.31 |
benign|likely benign|uncertain significance |
NM_000796.6(DRD3):c.-252C>T |
single nucleotide variant |
Tremor, hereditary essential, 1 [RCV000340085] |
Chr3:114178873 [GRCh38] Chr3:113897720 [GRCh37] Chr3:3q13.31 |
likely benign |
NM_000796.6(DRD3):c.-38A>C |
single nucleotide variant |
Hereditary essential tremor [RCV000288465] |
Chr3:114178659 [GRCh38] Chr3:113897506 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NM_000796.6(DRD3):c.-105G>A |
single nucleotide variant |
Tremor, hereditary essential, 1 [RCV000324870]|not provided [RCV004710915] |
Chr3:114178726 [GRCh38] Chr3:113897573 [GRCh37] Chr3:3q13.31 |
likely benign |
NM_000796.6(DRD3):c.51A>G (p.Ala17=) |
single nucleotide variant |
DRD3-related disorder [RCV003972444]|Tremor, hereditary essential, 1 [RCV000327367]|not provided [RCV004715996] |
Chr3:114171942 [GRCh38] Chr3:113890789 [GRCh37] Chr3:3q13.31 |
benign|likely benign |
NM_000796.6(DRD3):c.720G>A (p.Gln240=) |
single nucleotide variant |
Tremor, hereditary essential, 1 [RCV000370469]|not provided [RCV004715995] |
Chr3:114139503 [GRCh38] Chr3:113858350 [GRCh37] Chr3:3q13.31 |
benign|likely benign |
NM_000796.6(DRD3):c.821G>A (p.Gly274Glu) |
single nucleotide variant |
Hereditary essential tremor [RCV000297108] |
Chr3:114131303 [GRCh38] Chr3:113850150 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NM_000796.6(DRD3):c.383+7C>T |
single nucleotide variant |
Hereditary essential tremor [RCV000330956] |
Chr3:114159748 [GRCh38] Chr3:113878595 [GRCh37] Chr3:3q13.31 |
uncertain significance |
GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696) |
copy number loss |
Chromosome 3q13.31 deletion syndrome [RCV002280741] |
Chr3:106598767..115704696 [GRCh37] Chr3:3q13.12-13.31 |
pathogenic |
NM_000796.6(DRD3):c.-388T>A |
single nucleotide variant |
Hereditary essential tremor [RCV000315005] |
Chr3:114179009 [GRCh38] Chr3:113897856 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NM_000796.6(DRD3):c.302T>G (p.Ile101Ser) |
single nucleotide variant |
Hereditary essential tremor [RCV000366836] |
Chr3:114159836 [GRCh38] Chr3:113878683 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NM_000796.6(DRD3):c.1151C>A (p.Thr384Asn) |
single nucleotide variant |
Hereditary essential tremor [RCV000301133] |
Chr3:114128768 [GRCh38] Chr3:113847615 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NM_000796.6(DRD3):c.-114A>G |
single nucleotide variant |
Hereditary essential tremor [RCV000379475] |
Chr3:114178735 [GRCh38] Chr3:113897582 [GRCh37] Chr3:3q13.31 |
uncertain significance |
GRCh37/hg19 3q13.2-13.31(chr3:112144081-115514432)x1 |
copy number loss |
See cases [RCV000446223] |
Chr3:112144081..115514432 [GRCh37] Chr3:3q13.2-13.31 |
pathogenic |
GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1 |
copy number loss |
See cases [RCV000448410] |
Chr3:105094834..117441953 [GRCh37] Chr3:3q13.11-13.32 |
pathogenic |
GRCh37/hg19 3q13.2-13.31(chr3:112590339-116461450)x1 |
copy number loss |
See cases [RCV000511086] |
Chr3:112590339..116461450 [GRCh37] Chr3:3q13.2-13.31 |
pathogenic |
NM_000796.6(DRD3):c.44G>C (p.Cys15Ser) |
single nucleotide variant |
not specified [RCV004285674] |
Chr3:114171949 [GRCh38] Chr3:113890796 [GRCh37] Chr3:3q13.31 |
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 |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) |
copy number gain |
See cases [RCV000512358] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_000796.6(DRD3):c.383+2327C>T |
single nucleotide variant |
not specified [RCV000607974] |
Chr3:114157428 [GRCh38] Chr3:113876275 [GRCh37] Chr3:3q13.31 |
benign |
NM_000796.6(DRD3):c.25= (p.Gly9=) |
single nucleotide variant |
not specified [RCV000606074] |
Chr3:114171968 [GRCh38] Chr3:113890815 [GRCh37] Chr3:3q13.31 |
benign |
GRCh37/hg19 3q13.13-13.31(chr3:110645295-115103586)x1 |
copy number loss |
not provided [RCV000682294] |
Chr3:110645295..115103586 [GRCh37] Chr3:3q13.13-13.31 |
pathogenic |
GRCh37/hg19 3q13.2-13.31(chr3:111894832-116930109)x1 |
copy number loss |
not provided [RCV000682296] |
Chr3:111894832..116930109 [GRCh37] Chr3:3q13.2-13.31 |
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 |
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 |
copy number gain |
not provided [RCV000742133] |
Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_000796.6(DRD3):c.405C>T (p.Pro135=) |
single nucleotide variant |
not provided [RCV000925042] |
Chr3:114147536 [GRCh38] Chr3:113866383 [GRCh37] Chr3:3q13.31 |
likely benign |
NM_000796.6(DRD3):c.1047T>C (p.His349=) |
single nucleotide variant |
not provided [RCV000900426] |
Chr3:114128872 [GRCh38] Chr3:113847719 [GRCh37] Chr3:3q13.31 |
likely benign |
NM_000796.6(DRD3):c.954G>A (p.Arg318=) |
single nucleotide variant |
not provided [RCV000925299] |
Chr3:114131170 [GRCh38] Chr3:113850017 [GRCh37] Chr3:3q13.31 |
likely benign |
NM_000796.6(DRD3):c.324C>A (p.Thr108=) |
single nucleotide variant |
not provided [RCV000915643] |
Chr3:114159814 [GRCh38] Chr3:113878661 [GRCh37] Chr3:3q13.31 |
likely benign |
GRCh37/hg19 3q13.2-13.31(chr3:112183943-115492949)x1 |
copy number loss |
not provided [RCV000856645] |
Chr3:112183943..115492949 [GRCh37] Chr3:3q13.2-13.31 |
pathogenic |
NM_000796.6(DRD3):c.921G>T (p.Ser307=) |
single nucleotide variant |
not provided [RCV000938300] |
Chr3:114131203 [GRCh38] Chr3:113850050 [GRCh37] Chr3:3q13.31 |
likely benign |
GRCh37/hg19 3q13.31(chr3:113594376-114060961)x3 |
copy number gain |
not provided [RCV000848094] |
Chr3:113594376..114060961 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NM_000796.6(DRD3):c.406G>A (p.Val136Ile) |
single nucleotide variant |
Tremor, hereditary essential, 1 [RCV001144425] |
Chr3:114147535 [GRCh38] Chr3:113866382 [GRCh37] Chr3:3q13.31 |
likely benign |
NC_000003.11:g.(?_113503051)_(114070745_?)dup |
duplication |
not provided [RCV003105597] |
Chr3:113503051..114070745 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NC_000003.11:g.(?_113010404)_(114099634_?)del |
deletion |
not provided [RCV003105596] |
Chr3:113010404..114099634 [GRCh37] Chr3:3q13.2-13.31 |
pathogenic|uncertain significance |
NM_000796.6(DRD3):c.112G>A (p.Ala38Thr) |
single nucleotide variant |
Tremor, hereditary essential, 1 [RCV001144426]|not provided [RCV004711541] |
Chr3:114171881 [GRCh38] Chr3:113890728 [GRCh37] Chr3:3q13.31 |
likely benign |
NM_000796.6(DRD3):c.720= (p.Gln240=) |
variation |
not provided [RCV000956126] |
Chr3:114139503 [GRCh38] Chr3:113858350 [GRCh37] Chr3:3q13.31 |
benign |
GRCh37/hg19 3q13.2-13.32(chr3:113233952-118525556)x1 |
copy number loss |
See cases [RCV001194596] |
Chr3:113233952..118525556 [GRCh37] Chr3:3q13.2-13.32 |
pathogenic |
GRCh37/hg19 3q13.2-13.31(chr3:112135341-115509260)x3 |
copy number gain |
not provided [RCV001259226] |
Chr3:112135341..115509260 [GRCh37] Chr3:3q13.2-13.31 |
pathogenic |
NM_000796.6(DRD3):c.129C>T (p.Ile43=) |
single nucleotide variant |
not provided [RCV001311602] |
Chr3:114171864 [GRCh38] Chr3:113890711 [GRCh37] Chr3:3q13.31 |
likely benign |
GRCh37/hg19 3q13.31(chr3:113623035-114368128)x1 |
copy number loss |
Chromosome 3q13.31 deletion syndrome [RCV001391300] |
Chr3:113623035..114368128 [GRCh37] Chr3:3q13.31 |
pathogenic |
GRCh37/hg19 3q13.2-13.31(chr3:112144081-115514432) |
copy number loss |
not specified [RCV002053367] |
Chr3:112144081..115514432 [GRCh37] Chr3:3q13.2-13.31 |
pathogenic |
NM_000796.6(DRD3):c.404C>A (p.Pro135His) |
single nucleotide variant |
Tremor, hereditary essential, 1 [RCV002293395] |
Chr3:114147537 [GRCh38] Chr3:113866384 [GRCh37] Chr3:3q13.31 |
uncertain significance |
GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1 |
copy number loss |
not provided [RCV002472579] |
Chr3:107059705..115005256 [GRCh37] Chr3:3q13.12-13.31 |
pathogenic |
NM_000796.6(DRD3):c.940C>A (p.Pro314Thr) |
single nucleotide variant |
not specified [RCV004087258] |
Chr3:114131184 [GRCh38] Chr3:113850031 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NM_000796.6(DRD3):c.41C>T (p.Thr14Ile) |
single nucleotide variant |
not specified [RCV004152407] |
Chr3:114171952 [GRCh38] Chr3:113890799 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NM_000796.6(DRD3):c.172C>T (p.Arg58Trp) |
single nucleotide variant |
not specified [RCV004174948] |
Chr3:114171821 [GRCh38] Chr3:113890668 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NM_000796.6(DRD3):c.1018G>T (p.Val340Phe) |
single nucleotide variant |
not specified [RCV004104371] |
Chr3:114128901 [GRCh38] Chr3:113847748 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NM_000796.6(DRD3):c.299G>A (p.Arg100His) |
single nucleotide variant |
not specified [RCV004177918] |
Chr3:114159839 [GRCh38] Chr3:113878686 [GRCh37] Chr3:3q13.31 |
uncertain significance |
GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1 |
copy number loss |
Chromosome 3q13.31 deletion syndrome [RCV003222552] |
Chr3:110966195..115843176 [GRCh37] Chr3:3q13.13-13.31 |
pathogenic |
NM_000796.6(DRD3):c.676C>G (p.Arg226Gly) |
single nucleotide variant |
not specified [RCV004262062] |
Chr3:114139547 [GRCh38] Chr3:113858394 [GRCh37] Chr3:3q13.31 |
uncertain significance |
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1 |
copy number loss |
Chromosome 3q13.31 deletion syndrome [RCV003327614] |
Chr3:93979547..124774010 [GRCh38] Chr3:3q11.1-21.2 |
pathogenic |
NM_000796.6(DRD3):c.659G>A (p.Arg220Gln) |
single nucleotide variant |
not specified [RCV004338728] |
Chr3:114139564 [GRCh38] Chr3:113858411 [GRCh37] Chr3:3q13.31 |
uncertain significance |
GRCh37/hg19 3q13.13-13.31(chr3:110398276-113879363)x1 |
copy number loss |
not provided [RCV003485398] |
Chr3:110398276..113879363 [GRCh37] Chr3:3q13.13-13.31 |
uncertain significance |
NM_000796.6(DRD3):c.1110G>T (p.Trp370Cys) |
single nucleotide variant |
DRD3-related disorder [RCV003400123] |
Chr3:114128809 [GRCh38] Chr3:113847656 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NM_000796.6(DRD3):c.155T>C (p.Met52Thr) |
single nucleotide variant |
not provided [RCV003434763]|not specified [RCV004364591] |
Chr3:114171838 [GRCh38] Chr3:113890685 [GRCh37] Chr3:3q13.31 |
likely benign|uncertain significance |
NM_000796.6(DRD3):c.723+4A>G |
single nucleotide variant |
not provided [RCV003437953] |
Chr3:114139496 [GRCh38] Chr3:113858343 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NM_000796.6(DRD3):c.114G>A (p.Ala38=) |
single nucleotide variant |
DRD3-related disorder [RCV003981357] |
Chr3:114171879 [GRCh38] Chr3:113890726 [GRCh37] Chr3:3q13.31 |
likely benign |
NM_000796.6(DRD3):c.365G>A (p.Cys122Tyr) |
single nucleotide variant |
not specified [RCV004377091] |
Chr3:114159773 [GRCh38] Chr3:113878620 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NM_000796.6(DRD3):c.529G>A (p.Asp177Asn) |
single nucleotide variant |
not specified [RCV004377093] |
Chr3:114139694 [GRCh38] Chr3:113858541 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NM_000796.6(DRD3):c.47G>A (p.Gly16Glu) |
single nucleotide variant |
not specified [RCV004377092] |
Chr3:114171946 [GRCh38] Chr3:113890793 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NM_000796.6(DRD3):c.623A>G (p.Tyr208Cys) |
single nucleotide variant |
not specified [RCV004377094] |
Chr3:114139600 [GRCh38] Chr3:113858447 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NM_000796.6(DRD3):c.745C>T (p.His249Tyr) |
single nucleotide variant |
not specified [RCV004377095] |
Chr3:114131379 [GRCh38] Chr3:113850226 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NM_000796.6(DRD3):c.323C>G (p.Thr108Ser) |
single nucleotide variant |
not specified [RCV004619845] |
Chr3:114159815 [GRCh38] Chr3:113878662 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NM_000796.6(DRD3):c.941C>T (p.Pro314Leu) |
single nucleotide variant |
not specified [RCV004914355] |
Chr3:114131183 [GRCh38] Chr3:113850030 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NM_000796.6(DRD3):c.893T>G (p.Val298Gly) |
single nucleotide variant |
not specified [RCV004914356] |
Chr3:114131231 [GRCh38] Chr3:113850078 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NM_000796.6(DRD3):c.1036T>C (p.Phe346Leu) |
single nucleotide variant |
not specified [RCV004914357] |
Chr3:114128883 [GRCh38] Chr3:113847730 [GRCh37] Chr3:3q13.31 |
uncertain significance |
NM_000796.6(DRD3):c.1172G>A (p.Arg391Gln) |
single nucleotide variant |
not specified [RCV004914354] |
Chr3:114128747 [GRCh38] Chr3:113847594 [GRCh37] Chr3:3q13.31 |
uncertain significance |
GRCh37/hg19 3q13.2-13.31(chr3:112144082-115514432)x1 |
copy number loss |
not provided [RCV004819338] |
Chr3:112144082..115514432 [GRCh37] Chr3:3q13.2-13.31 |
pathogenic |
NM_000796.6(DRD3):c.1130C>A (p.Ala377Asp) |
single nucleotide variant |
not specified [RCV004920337] |
Chr3:114128789 [GRCh38] Chr3:113847636 [GRCh37] Chr3:3q13.31 |
uncertain significance |