NM_003235.4(TG):c.-1623A>G |
single nucleotide variant |
Autoimmune thyroid disease, susceptibility to, 3 [RCV000022790] |
Chr8:132865378 [GRCh38] Chr8:133877623 [GRCh37] Chr8:8q24.22 |
risk factor |
NM_003235.5(TG):c.275-3C>G |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000013526] |
Chr8:132871345 [GRCh38] Chr8:133883590 [GRCh37] Chr8:8q24.22 |
pathogenic |
TG, 138-BP DEL, NT5590 TG, IVS30, +1, G-T |
deletion |
Iodotyrosyl coupling defect [RCV000013529] |
Chr8:8q24.2-q24.3 |
pathogenic |
NM_003235.5(TG):c.1143del (p.Tyr382fs) |
deletion |
Iodotyrosyl coupling defect [RCV000013536] |
Chr8:132886515 [GRCh38] Chr8:133898760 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.6200-1G>C |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000013538] |
Chr8:132983349 [GRCh38] Chr8:133995594 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.638+1G>A |
single nucleotide variant |
Congenital hypothyroidism [RCV001270318]|Iodotyrosyl coupling defect [RCV000013543] |
Chr8:132873222 [GRCh38] Chr8:133885467 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.7021G>A (p.Gly2341Ser) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000656568]|TG-Related Disorders [RCV003323659] |
Chr8:133022135 [GRCh38] Chr8:134034380 [GRCh37] Chr8:8q24.22 |
pathogenic|likely pathogenic |
NM_003235.5(TG):c.2610G>T (p.Gln870His) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000013527]|Premature ovarian failure [RCV001002732]|not provided [RCV000880032] |
Chr8:132888417 [GRCh38] Chr8:133900662 [GRCh37] Chr8:8q24.22 |
benign|likely benign|uncertain significance |
NM_003235.5(TG):c.4588C>T (p.Arg1530Ter) |
single nucleotide variant |
Congenital hypothyroidism [RCV001270322]|Iodotyrosyl coupling defect [RCV000013528]|Iodotyrosyl coupling defect [RCV002482861]|not provided [RCV000579142] |
Chr8:132923397 [GRCh38] Chr8:133935642 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.3733T>C (p.Cys1245Arg) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000013530] |
Chr8:132906786 [GRCh38] Chr8:133919031 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.5986T>A (p.Cys1996Ser) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000013531] |
Chr8:132971804 [GRCh38] Chr8:133984049 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.886C>T (p.Arg296Ter) |
single nucleotide variant |
Congenital hypothyroidism [RCV001270319]|Iodotyrosyl coupling defect [RCV000013532]|Iodotyrosyl coupling defect [RCV002496346]|not provided [RCV000299644] |
Chr8:132882609 [GRCh38] Chr8:133894854 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.5995C>T (p.Arg1999Trp) |
single nucleotide variant |
Autoimmune thyroid disease, susceptibility to, 3 [RCV000013533]|Iodotyrosyl coupling defect [RCV000277644]|not provided [RCV001723563]|not specified [RCV000251808] |
Chr8:132971813 [GRCh38] Chr8:133984058 [GRCh37] Chr8:8q24.22 |
risk factor|benign|likely benign |
NM_003235.5(TG):c.2200T>G (p.Ser734Ala) |
single nucleotide variant |
Autoimmune thyroid disease, susceptibility to, 3 [RCV000013534]|Iodotyrosyl coupling defect [RCV000309189]|not specified [RCV000253912] |
Chr8:132888007 [GRCh38] Chr8:133900252 [GRCh37] Chr8:8q24.22 |
risk factor|benign|likely benign |
NM_003235.5(TG):c.3082A>G (p.Met1028Val) |
single nucleotide variant |
Autoimmune thyroid disease, susceptibility to, 3 [RCV000013535]|Iodotyrosyl coupling defect [RCV000368266]|not provided [RCV001675580]|not specified [RCV000254213] |
Chr8:132897729 [GRCh38] Chr8:133909974 [GRCh37] Chr8:8q24.22 |
risk factor|benign|likely benign |
NM_003235.5(TG):c.6725G>A (p.Arg2242His) |
single nucleotide variant |
Autoimmune thyroid disease, susceptibility to, 3 [RCV001329060]|Iodotyrosyl coupling defect [RCV000013537]|not provided [RCV001551747] |
Chr8:133017940 [GRCh38] Chr8:134030185 [GRCh37] Chr8:8q24.22 |
pathogenic|likely pathogenic |
NM_003235.5(TG):c.3229T>C (p.Cys1077Arg) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000013539] |
Chr8:132898809 [GRCh38] Chr8:133911054 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.7123G>A (p.Gly2375Arg) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000013540] |
Chr8:133029907 [GRCh38] Chr8:134042152 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.5690G>A (p.Cys1897Tyr) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000013541]|not provided [RCV002273929] |
Chr8:132967797 [GRCh38] Chr8:133980042 [GRCh37] Chr8:8q24.22 |
pathogenic|uncertain significance |
NM_003235.5(TG):c.7007G>A (p.Arg2336Gln) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000013542]|Iodotyrosyl coupling defect [RCV002496347] |
Chr8:133022121 [GRCh38] Chr8:134034366 [GRCh37] Chr8:8q24.22 |
pathogenic|likely pathogenic |
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 |
copy number gain |
See cases [RCV000050830] |
Chr8:128220912..145049449 [GRCh38] Chr8:129233158..146274835 [GRCh37] Chr8:129302340..146245639 [NCBI36] Chr8:8q24.21-24.3 |
pathogenic |
GRCh38/hg38 8q24.21-24.22(chr8:129176782-134170188)x1 |
copy number loss |
See cases [RCV000050751] |
Chr8:129176782..134170188 [GRCh38] Chr8:130189028..135182431 [GRCh37] Chr8:130258210..135251613 [NCBI36] Chr8:8q24.21-24.22 |
pathogenic |
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 |
copy number gain |
See cases [RCV000050638] |
Chr8:113580402..145054634 [GRCh38] Chr8:114592631..146280020 [GRCh37] Chr8:114661807..146250824 [NCBI36] Chr8:8q23.3-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 |
copy number gain |
See cases [RCV000051206] |
Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] |
Chr8:95606052..145054775 [GRCh38] Chr8:96618280..146280161 [GRCh37] Chr8:96687456..146250965 [NCBI36] Chr8:8q22.1-24.3 |
pathogenic |
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 |
copy number gain |
See cases [RCV000053678] |
Chr8:124514090..145054634 [GRCh38] Chr8:125526331..146280020 [GRCh37] Chr8:125595512..146250824 [NCBI36] Chr8:8q24.13-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] |
Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 |
copy number gain |
See cases [RCV000053602] |
Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q24.21-24.23(chr8:126626164-137169427)x1 |
copy number loss |
See cases [RCV000054306] |
Chr8:126626164..137169427 [GRCh38] Chr8:127638409..138181670 [GRCh37] Chr8:127707591..138250852 [NCBI36] Chr8:8q24.21-24.23 |
pathogenic |
NM_003235.4(TG):c.6177C>T (p.Pro2059=) |
single nucleotide variant |
Malignant melanoma [RCV000068160] |
Chr8:132972719 [GRCh38] Chr8:133984964 [GRCh37] Chr8:134054146 [NCBI36] Chr8:8q24.22 |
not provided |
NM_001045556.2(SLA):c.59A>T (p.Glu20Val) |
single nucleotide variant |
Malignant melanoma [RCV000068161] |
Chr8:133060102 [GRCh38] Chr8:134072347 [GRCh37] Chr8:134141529 [NCBI36] Chr8:8q24.22 |
not provided |
NM_003235.4(TG):c.5118C>T (p.Asn1706=) |
single nucleotide variant |
Malignant melanoma [RCV000061759] |
Chr8:132941427 [GRCh38] Chr8:133953672 [GRCh37] Chr8:134022854 [NCBI36] Chr8:8q24.22 |
not provided |
NM_003235.5(TG):c.1076-1G>C |
single nucleotide variant |
Autoimmune thyroid disease, susceptibility to, 3 [RCV000662333] |
Chr8:132886447 [GRCh38] Chr8:133898692 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.2639C>T (p.Pro880Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002546611]|Iodotyrosyl coupling defect [RCV001333107] |
Chr8:132888446 [GRCh38] Chr8:133900691 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.416G>A (p.Trp139Ter) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001333109] |
Chr8:132871489 [GRCh38] Chr8:133883734 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.5184C>A (p.Cys1728Ter) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000190631] |
Chr8:132941493 [GRCh38] Chr8:133953738 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.3886T>A (p.Phe1296Ile) |
single nucleotide variant |
Malignant tumor of prostate [RCV000149144] |
Chr8:132908224 [GRCh38] Chr8:133920469 [GRCh37] Chr8:8q24.22 |
uncertain significance |
GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3 |
copy number gain |
See cases [RCV000133621] |
Chr8:130115518..141228210 [GRCh38] Chr8:131127764..142238309 [GRCh37] Chr8:131196946..142307491 [NCBI36] Chr8:8q24.21-24.3 |
pathogenic |
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 |
copy number gain |
See cases [RCV000134353] |
Chr8:94682154..145068656 [GRCh38] Chr8:95694382..146294042 [GRCh37] Chr8:95763558..146264846 [NCBI36] Chr8:8q22.1-24.3 |
pathogenic |
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 |
copy number gain |
See cases [RCV000135621] |
Chr8:86300584..137022587 [GRCh38] Chr8:87312813..138034830 [GRCh37] Chr8:87381929..138104012 [NCBI36] Chr8:8q21.3-24.23 |
pathogenic|likely pathogenic |
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 |
copy number gain |
See cases [RCV000137644] |
Chr8:130639182..145068712 [GRCh38] Chr8:131651428..146294098 [GRCh37] Chr8:131720610..146264902 [NCBI36] Chr8:8q24.22-24.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 |
copy number gain |
See cases [RCV000137346] |
Chr8:124498498..145068712 [GRCh38] Chr8:125510739..146294098 [GRCh37] Chr8:125579920..146264902 [NCBI36] Chr8:8q24.13-24.3 |
pathogenic |
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 |
copy number gain |
See cases [RCV000138551] |
Chr8:87931152..145068712 [GRCh38] Chr8:88943380..146294098 [GRCh37] Chr8:89012496..146264902 [NCBI36] Chr8:8q21.3-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 |
copy number gain |
See cases [RCV000138643] |
Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 |
copy number gain |
See cases [RCV000139036] |
Chr8:77480050..145068712 [GRCh38] Chr8:78392286..146294098 [GRCh37] Chr8:78554841..146264902 [NCBI36] Chr8:8q21.13-24.3 |
pathogenic |
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 |
copy number gain |
See cases [RCV000140447] |
Chr8:97382873..145070385 [GRCh38] Chr8:98395101..146295771 [GRCh37] Chr8:98464277..146266575 [NCBI36] Chr8:8q22.1-24.3 |
pathogenic |
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 |
copy number gain |
See cases [RCV000139539] |
Chr8:46031340..139285494 [GRCh38] Chr8:46942962..140297737 [GRCh37] Chr8:47062127..140366919 [NCBI36] Chr8:8q11.1-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 |
copy number gain |
See cases [RCV000141808] |
Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 |
copy number gain |
See cases [RCV000141694] |
Chr8:100867343..145070385 [GRCh38] Chr8:101879571..146295771 [GRCh37] Chr8:101948747..146266575 [NCBI36] Chr8:8q22.3-24.3 |
pathogenic |
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 |
copy number gain |
See cases [RCV000142021] |
Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3 |
pathogenic |
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 |
copy number gain |
See cases [RCV000142810] |
Chr8:103306336..145068712 [GRCh38] Chr8:104318564..146294098 [GRCh37] Chr8:104387740..146264902 [NCBI36] Chr8:8q22.3-24.3 |
pathogenic|likely pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 |
copy number gain |
See cases [RCV000142858] |
Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 |
copy number gain |
See cases [RCV000142597] |
Chr8:78614077..145054634 [GRCh38] Chr8:79526312..146280020 [GRCh37] Chr8:79688867..146250824 [NCBI36] Chr8:8q21.13-24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 |
copy number gain |
See cases [RCV000148092] |
Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8q24.22(chr8:132935590-133815152)x3 |
copy number gain |
See cases [RCV000143529] |
Chr8:132935590..133815152 [GRCh38] Chr8:133947835..134827395 [GRCh37] Chr8:134017017..134896577 [NCBI36] Chr8:8q24.22 |
uncertain significance |
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 |
copy number gain |
See cases [RCV000143659] |
Chr8:85765999..145070385 [GRCh38] Chr8:86778228..146295771 [GRCh37] Chr8:86863079..146266575 [NCBI36] Chr8:8q21.2-24.3 |
pathogenic |
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 |
copy number gain |
See cases [RCV000148117] |
Chr8:124514090..145054634 [GRCh38] Chr8:125526331..146280020 [GRCh37] Chr8:125595512..146250824 [NCBI36] Chr8:8q24.13-24.3 |
pathogenic |
NM_003235.5(TG):c.6379C>T (p.Arg2127Ter) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000778853]|not provided [RCV000377668] |
Chr8:133012017 [GRCh38] Chr8:134024262 [GRCh37] Chr8:8q24.22 |
pathogenic|uncertain significance |
NM_003235.5(TG):c.638+5G>A |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000207481] |
Chr8:132873226 [GRCh38] Chr8:133885471 [GRCh37] Chr8:8q24.22 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_003235.5(TG):c.3139+9G>A |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161576]|not provided [RCV002292499]|not specified [RCV000246253] |
Chr8:132897795 [GRCh38] Chr8:133910040 [GRCh37] Chr8:8q24.22 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_003235.5(TG):c.2334T>C (p.Pro778=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000331886]|not specified [RCV000246346] |
Chr8:132888141 [GRCh38] Chr8:133900386 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.1543C>G (p.Gln515Glu) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000336766]|not specified [RCV000248965] |
Chr8:132886915 [GRCh38] Chr8:133899160 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.7501T>C (p.Trp2501Arg) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000354501]|not specified [RCV000244259] |
Chr8:133096302 [GRCh38] Chr8:134108546 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.3935A>G (p.Asp1312Gly) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000280505]|not specified [RCV000241944] |
Chr8:132908273 [GRCh38] Chr8:133920518 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.1260G>A (p.Gly420=) |
single nucleotide variant |
not specified [RCV000244348] |
Chr8:132886632 [GRCh38] Chr8:133898877 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5921T>C (p.Met1974Thr) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000261810]|not specified [RCV000246840] |
Chr8:132969515 [GRCh38] Chr8:133981760 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.7589G>A (p.Arg2530Gln) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000329782]|not provided [RCV001610636]|not specified [RCV000249422] |
Chr8:133113438 [GRCh38] Chr8:134125682 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.5512G>A (p.Asp1838Asn) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000305066]|not provided [RCV001651176]|not specified [RCV000242253] |
Chr8:132963038 [GRCh38] Chr8:133975283 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.3001+10G>A |
single nucleotide variant |
not specified [RCV000249664] |
Chr8:132893939 [GRCh38] Chr8:133906184 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7408C>T (p.Leu2470=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000299677]|not provided [RCV001689842]|not specified [RCV000252113] |
Chr8:133096209 [GRCh38] Chr8:134108453 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.85C>T (p.Gln29Ter) |
single nucleotide variant |
not provided [RCV000521328] |
Chr8:132868132 [GRCh38] Chr8:133880377 [GRCh37] Chr8:8q24.22 |
pathogenic|likely pathogenic |
NM_003235.5(TG):c.4506T>C (p.Ala1502=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000267031]|not specified [RCV000244917] |
Chr8:132919503 [GRCh38] Chr8:133931748 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.6200-7T>A |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158692]|not provided [RCV000962343]|not specified [RCV000242582] |
Chr8:132983343 [GRCh38] Chr8:133995588 [GRCh37] Chr8:8q24.22 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_003235.5(TG):c.6395C>T (p.Ser2132Leu) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158696]|not provided [RCV001618426]|not specified [RCV000247563] |
Chr8:133012033 [GRCh38] Chr8:134024278 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.3848-20T>C |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001838574]|not specified [RCV000249976] |
Chr8:132908166 [GRCh38] Chr8:133920411 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.7920C>T (p.Tyr2640=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000342038]|not provided [RCV001660229]|not specified [RCV000252575] |
Chr8:133131869 [GRCh38] Chr8:134144113 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.478+15G>A |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001164846]|not specified [RCV000250285] |
Chr8:132871566 [GRCh38] Chr8:133883811 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.3804C>T (p.Ser1268=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000284243]|not provided [RCV000968132] |
Chr8:132906857 [GRCh38] Chr8:133919102 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.5862A>G (p.Lys1954=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000301681] |
Chr8:132967969 [GRCh38] Chr8:133980214 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.7573-5T>C |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000369090] |
Chr8:133113417 [GRCh38] Chr8:134125661 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4023G>T (p.Leu1341=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000369330] |
Chr8:132911397 [GRCh38] Chr8:133923642 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.2761+11G>T |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000285186] |
Chr8:132888579 [GRCh38] Chr8:133900824 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7162G>A (p.Gly2388Arg) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000303259] |
Chr8:133029946 [GRCh38] Chr8:134042191 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4527C>T (p.His1509=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000322141]|not provided [RCV001723962]|not specified [RCV000422664] |
Chr8:132919524 [GRCh38] Chr8:133931769 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.2980A>G (p.Ile994Val) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000346158]|not provided [RCV000897362] |
Chr8:132893908 [GRCh38] Chr8:133906153 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.198C>T (p.Asp66=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000268975] |
Chr8:132869750 [GRCh38] Chr8:133881995 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3749G>T (p.Arg1250Leu) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000324285]|not provided [RCV000888295]|not specified [RCV003230488] |
Chr8:132906802 [GRCh38] Chr8:133919047 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.6646A>G (p.Ile2216Val) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000347685]|not provided [RCV000892465] |
Chr8:133017861 [GRCh38] Chr8:134030106 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.1269C>T (p.Arg423=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000371685]|not provided [RCV000963649] |
Chr8:132886641 [GRCh38] Chr8:133898886 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.5984A>G (p.Glu1995Gly) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000371741] |
Chr8:132971802 [GRCh38] Chr8:133984047 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.5234-10T>C |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000398474] |
Chr8:132948766 [GRCh38] Chr8:133961011 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.2150G>A (p.Arg717Gln) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000270499] |
Chr8:132887522 [GRCh38] Chr8:133899767 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7847A>G (p.Asn2616Ser) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000287087] |
Chr8:133116701 [GRCh38] Chr8:134128945 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.4443C>T (p.Tyr1481=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000325813] |
Chr8:132919440 [GRCh38] Chr8:133931685 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.5188C>T (p.Arg1730Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002523633]|Iodotyrosyl coupling defect [RCV000349166] |
Chr8:132941497 [GRCh38] Chr8:133953742 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2686C>T (p.Arg896Trp) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000373462] |
Chr8:132888493 [GRCh38] Chr8:133900738 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3933G>A (p.Ala1311=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000399622] |
Chr8:132908271 [GRCh38] Chr8:133920516 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.7112G>A (p.Arg2371Gln) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000400057] |
Chr8:133029896 [GRCh38] Chr8:134042141 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7648G>A (p.Glu2550Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002523634]|Iodotyrosyl coupling defect [RCV000271223] |
Chr8:133113497 [GRCh38] Chr8:134125741 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6945G>A (p.Pro2315=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000287933] |
Chr8:133022059 [GRCh38] Chr8:134034304 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.3647C>T (p.Pro1216Leu) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000288011]|not provided [RCV000949947] |
Chr8:132906700 [GRCh38] Chr8:133918945 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.1890A>G (p.Gln630=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000306074]|not provided [RCV000967104] |
Chr8:132887262 [GRCh38] Chr8:133899507 [GRCh37] Chr8:8q24.22 |
benign|likely benign|uncertain significance |
NM_003235.5(TG):c.7737T>C (p.Ala2579=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000326325]|not provided [RCV000900448] |
Chr8:133113586 [GRCh38] Chr8:134125830 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.379G>A (p.Ala127Thr) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000326360] |
Chr8:132871452 [GRCh38] Chr8:133883697 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4862C>A (p.Thr1621Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002523632]|Iodotyrosyl coupling defect [RCV000373691]|TG-related condition [RCV003392218] |
Chr8:132933606 [GRCh38] Chr8:133945851 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3241C>G (p.Arg1081Gly) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000272792] |
Chr8:132898821 [GRCh38] Chr8:133911066 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3397G>A (p.Glu1133Lys) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000327788]|not specified [RCV000501737] |
Chr8:132900303 [GRCh38] Chr8:133912548 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4563G>A (p.Leu1521=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000376721]|not provided [RCV000906149] |
Chr8:132923372 [GRCh38] Chr8:133935617 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.2977G>A (p.Ala993Thr) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000307648] |
Chr8:132893905 [GRCh38] Chr8:133906150 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.5119C>T (p.Pro1707Ser) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000352867] |
Chr8:132941428 [GRCh38] Chr8:133953673 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.7921G>C (p.Glu2641Gln) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000377971] |
Chr8:133131870 [GRCh38] Chr8:134144114 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3776C>T (p.Pro1259Leu) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000378687] |
Chr8:132906829 [GRCh38] Chr8:133919074 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.8238G>A (p.Thr2746=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000400525] |
Chr8:133134725 [GRCh38] Chr8:134146969 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2330C>T (p.Pro777Leu) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000274431]|not provided [RCV000903127] |
Chr8:132888137 [GRCh38] Chr8:133900382 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.7578T>A (p.Phe2526Leu) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000274579] |
Chr8:133113427 [GRCh38] Chr8:134125671 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.5370A>G (p.Ile1790Met) |
single nucleotide variant |
Congenital hypothyroidism [RCV001270323]|Iodotyrosyl coupling defect [RCV000309599]|not provided [RCV000883879] |
Chr8:132948912 [GRCh38] Chr8:133961157 [GRCh37] Chr8:8q24.22 |
benign|likely benign|uncertain significance |
NM_003235.5(TG):c.3217+11A>C |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000331404] |
Chr8:132898257 [GRCh38] Chr8:133910502 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.3171G>C (p.Gly1057=) |
single nucleotide variant |
Thyroid dyshormonogenesis [RCV000353301] |
Chr8:132898200 [GRCh38] Chr8:133910445 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2963G>C (p.Arg988Pro) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000401261] |
Chr8:132893891 [GRCh38] Chr8:133906136 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.7539C>T (p.Asp2513=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000259271]|not provided [RCV000958135] |
Chr8:133096340 [GRCh38] Chr8:134108584 [GRCh37] Chr8:8q24.22 |
benign|likely benign|uncertain significance |
NM_003235.5(TG):c.6576C>T (p.Leu2192=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000292863] |
Chr8:133017791 [GRCh38] Chr8:134030036 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4267C>T (p.Arg1423Cys) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000311184] |
Chr8:132913154 [GRCh38] Chr8:133925399 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3057C>T (p.Ser1019=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000311140]|not provided [RCV000891879]|not specified [RCV001699400] |
Chr8:132897704 [GRCh38] Chr8:133909949 [GRCh37] Chr8:8q24.22 |
benign|likely benign|uncertain significance |
NM_003235.5(TG):c.6181G>A (p.Gly2061Arg) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000332669]|not provided [RCV000895861] |
Chr8:132972723 [GRCh38] Chr8:133984968 [GRCh37] Chr8:8q24.22 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_003235.5(TG):c.5907G>A (p.Pro1969=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000356616] |
Chr8:132969501 [GRCh38] Chr8:133981746 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.3583G>A (p.Gly1195Arg) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000382408]|not provided [RCV000892560]|not specified [RCV001727710] |
Chr8:132901502 [GRCh38] Chr8:133913747 [GRCh37] Chr8:8q24.22 |
benign|likely benign|uncertain significance |
NM_003235.5(TG):c.3098C>T (p.Ala1033Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002524546]|Iodotyrosyl coupling defect [RCV000276023] |
Chr8:132897745 [GRCh38] Chr8:133909990 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3187C>A (p.Leu1063Met) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000276378]|not provided [RCV000959036]|not specified [RCV001727709] |
Chr8:132898216 [GRCh38] Chr8:133910461 [GRCh37] Chr8:8q24.22 |
benign|likely benign|uncertain significance |
NM_003235.5(TG):c.554C>T (p.Ala185Val) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000383418]|not provided [RCV002466492] |
Chr8:132873137 [GRCh38] Chr8:133885382 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6819G>A (p.Thr2273=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000383606] |
Chr8:133019638 [GRCh38] Chr8:134031883 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.5186A>C (p.Asp1729Ala) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000294190]|not provided [RCV000956676] |
Chr8:132941495 [GRCh38] Chr8:133953740 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.1075+8T>G |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000294528]|not provided [RCV000897361] |
Chr8:132883007 [GRCh38] Chr8:133895252 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.3953A>G (p.Gln1318Arg) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000335521] |
Chr8:132908291 [GRCh38] Chr8:133920536 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.5549-9C>A |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000359856] |
Chr8:132966551 [GRCh38] Chr8:133978796 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.7640T>A (p.Leu2547Gln) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000384284]|not provided [RCV000903954] |
Chr8:133113489 [GRCh38] Chr8:134125733 [GRCh37] Chr8:8q24.22 |
benign|likely benign|uncertain significance |
NM_003235.5(TG):c.1567T>C (p.Ser523Pro) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000407155]|not provided [RCV000954120]|not specified [RCV000499577] |
Chr8:132886939 [GRCh38] Chr8:133899184 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.1834C>A (p.Pro612Thr) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000407176]|not provided [RCV000898524] |
Chr8:132887206 [GRCh38] Chr8:133899451 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.7264G>A (p.Ala2422Thr) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000407987] |
Chr8:133095068 [GRCh38] Chr8:134107312 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.3024C>T (p.Arg1008=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000407803]|not provided [RCV000881383] |
Chr8:132897671 [GRCh38] Chr8:133909916 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.4982G>A (p.Arg1661His) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000279090]|Iodotyrosyl coupling defect [RCV002480249]|TG-related condition [RCV003418081] |
Chr8:132935805 [GRCh38] Chr8:133948050 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3982C>T (p.Arg1328Cys) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000314482] |
Chr8:132908320 [GRCh38] Chr8:133920565 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6324G>A (p.Arg2108=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000387157]|not provided [RCV000903604] |
Chr8:133011962 [GRCh38] Chr8:134024207 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.1532A>G (p.Asn511Ser) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000279503] |
Chr8:132886904 [GRCh38] Chr8:133899149 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3129C>T (p.His1043=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000314781]|not provided [RCV000971767] |
Chr8:132897776 [GRCh38] Chr8:133910021 [GRCh37] Chr8:8q24.22 |
benign|likely benign|uncertain significance |
NM_003235.5(TG):c.8202C>T (p.Gly2734=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000338469]|not provided [RCV000888332] |
Chr8:133134689 [GRCh38] Chr8:134146933 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.2737T>C (p.Ser913Pro) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000338757] |
Chr8:132888544 [GRCh38] Chr8:133900789 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.66C>T (p.Phe22=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000361415] |
Chr8:132867066 [GRCh38] Chr8:133879311 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4481C>T (p.Pro1494Leu) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000361901]|Iodotyrosyl coupling defect [RCV002504182]|not provided [RCV000413485] |
Chr8:132919478 [GRCh38] Chr8:133931723 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.1900G>A (p.Gly634Arg) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000363126]|not provided [RCV000903080] |
Chr8:132887272 [GRCh38] Chr8:133899517 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.5386C>T (p.Gln1796Ter) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000363367] |
Chr8:132948928 [GRCh38] Chr8:133961173 [GRCh37] Chr8:8q24.22 |
likely pathogenic|uncertain significance |
NM_003235.5(TG):c.2443G>A (p.Gly815Arg) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000388671] |
Chr8:132888250 [GRCh38] Chr8:133900495 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.2560C>T (p.Arg854Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002523631]|Iodotyrosyl coupling defect [RCV000316549]|Iodotyrosyl coupling defect [RCV002481241]|not provided [RCV000434871] |
Chr8:132888367 [GRCh38] Chr8:133900612 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.5976-15C>T |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000317083] |
Chr8:132971779 [GRCh38] Chr8:133984024 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.7202C>T (p.Ala2401Val) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000339250] |
Chr8:133029986 [GRCh38] Chr8:134042231 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.5122A>G (p.Ile1708Val) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000389981]|not provided [RCV000956675] |
Chr8:132941431 [GRCh38] Chr8:133953676 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.5856G>A (p.Arg1952=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000265318]|not provided [RCV000892613] |
Chr8:132967963 [GRCh38] Chr8:133980208 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.2709G>C (p.Glu903Asp) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000281352] |
Chr8:132888516 [GRCh38] Chr8:133900761 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4713T>C (p.Phe1571=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000282137] |
Chr8:132929089 [GRCh38] Chr8:133941334 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.4743C>T (p.Phe1581=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000318556]|not provided [RCV000918723] |
Chr8:132929119 [GRCh38] Chr8:133941364 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.1802C>T (p.Thr601Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002523630]|Iodotyrosyl coupling defect [RCV000340940] |
Chr8:132887174 [GRCh38] Chr8:133899419 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.4365C>T (p.Asp1455=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000365806]|not provided [RCV000880864] |
Chr8:132913252 [GRCh38] Chr8:133925497 [GRCh37] Chr8:8q24.22 |
benign|likely benign|uncertain significance |
NM_003235.5(TG):c.4193G>A (p.Arg1398His) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000391527]|not provided [RCV000956674] |
Chr8:132913080 [GRCh38] Chr8:133925325 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.5485C>T (p.Arg1829Trp) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000391660] |
Chr8:132963011 [GRCh38] Chr8:133975256 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.8189-14C>T |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000283385] |
Chr8:133134662 [GRCh38] Chr8:134146906 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.2762-4C>T |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000342442]|Iodotyrosyl coupling defect [RCV002480248] |
Chr8:132893686 [GRCh38] Chr8:133905931 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6952G>A (p.Asp2318Asn) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000342853] |
Chr8:133022066 [GRCh38] Chr8:134034311 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.2295C>T (p.Thr765=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000366154] |
Chr8:132888102 [GRCh38] Chr8:133900347 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3217+14G>T |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000367376] |
Chr8:132898260 [GRCh38] Chr8:133910505 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4379-13T>G |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000270723] |
Chr8:132919363 [GRCh38] Chr8:133931608 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2455C>T (p.Leu819Phe) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000277985] |
Chr8:132888262 [GRCh38] Chr8:133900507 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3035C>T (p.Pro1012Leu) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000490475]|not provided [RCV000964302]|not specified [RCV001818511] |
Chr8:132897682 [GRCh38] Chr8:133909927 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.3149G>T (p.Trp1050Leu) |
single nucleotide variant |
Hereditary breast ovarian cancer syndrome [RCV001374524]|Iodotyrosyl coupling defect [RCV002486006]|not provided [RCV003438738] |
Chr8:132898178 [GRCh38] Chr8:133910423 [GRCh37] Chr8:8q24.22 |
uncertain significance |
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 |
copy number gain |
See cases [RCV002292707] |
Chr8:68912432..146295771 [GRCh37] Chr8:8q13.2-24.3 |
pathogenic |
NM_003235.5(TG):c.7859G>A (p.Gly2620Asp) |
single nucleotide variant |
Congenital hypothyroidism [RCV001270325] |
Chr8:133116713 [GRCh38] Chr8:134128957 [GRCh37] Chr8:8q24.22 |
likely benign |
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 |
copy number gain |
See cases [RCV002285066] |
Chr8:84712253..146295771 [GRCh37] Chr8:8q21.2-24.3 |
pathogenic |
NM_003235.5(TG):c.2134dup (p.Ala712fs) |
duplication |
Congenital hypothyroidism [RCV001270321] |
Chr8:132887504..132887505 [GRCh38] Chr8:133899749..133899750 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.1681A>G (p.Asn561Asp) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000302472] |
Chr8:132887053 [GRCh38] Chr8:133899298 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7573-5del |
deletion |
Thyroid dyshormonogenesis [RCV000314544] |
Chr8:133113407 [GRCh38] Chr8:134125651 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.698G>A (p.Gly233Glu) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000329759] |
Chr8:132881922 [GRCh38] Chr8:133894167 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7824C>A (p.Val2608=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000381578] |
Chr8:133116678 [GRCh38] Chr8:134128922 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.1233G>A (p.Thr411=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000351733] |
Chr8:132886605 [GRCh38] Chr8:133898850 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3912G>A (p.Lys1304=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000339314] |
Chr8:132908250 [GRCh38] Chr8:133920495 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.3964T>C (p.Leu1322=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000391507] |
Chr8:132908302 [GRCh38] Chr8:133920547 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.3529del (p.Ser1177fs) |
deletion |
not provided [RCV000522997] |
Chr8:132901445 [GRCh38] Chr8:133913690 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.2761+2T>G |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000377360] |
Chr8:132888570 [GRCh38] Chr8:133900815 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.479G>C (p.Cys160Ser) |
single nucleotide variant |
not provided [RCV000523933] |
Chr8:132873062 [GRCh38] Chr8:133885307 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.6304G>C (p.Val2102Leu) |
single nucleotide variant |
not provided [RCV000414376] |
Chr8:133011942 [GRCh38] Chr8:134024187 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3985G>A (p.Gly1329Ser) |
single nucleotide variant |
not provided [RCV000728869] |
Chr8:132908323 [GRCh38] Chr8:133920568 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2443G>T (p.Gly815Ter) |
single nucleotide variant |
not provided [RCV000412820] |
Chr8:132888250 [GRCh38] Chr8:133900495 [GRCh37] Chr8:8q24.22 |
pathogenic |
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 |
copy number gain |
not provided [RCV000848192] |
Chr8:31936551..146295771 [GRCh37] Chr8:8p12-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 |
copy number gain |
See cases [RCV000447507] |
Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_003235.5(TG):c.3367G>A (p.Gly1123Ser) |
single nucleotide variant |
not provided [RCV000425024] |
Chr8:132900273 [GRCh38] Chr8:133912518 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7755-9T>G |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163831]|not provided [RCV000423446] |
Chr8:133116600 [GRCh38] Chr8:134128844 [GRCh37] Chr8:8q24.22 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_003235.5(TG):c.217G>A (p.Val73Met) |
single nucleotide variant |
not provided [RCV000426382] |
Chr8:132869769 [GRCh38] Chr8:133882014 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3835C>T (p.Arg1279Trp) |
single nucleotide variant |
not provided [RCV000419822] |
Chr8:132906888 [GRCh38] Chr8:133919133 [GRCh37] Chr8:8q24.22 |
uncertain significance |
GRCh37/hg19 8q24.22(chr8:134064220-134138660)x1 |
copy number loss |
See cases [RCV000448841] |
Chr8:134064220..134138660 [GRCh37] Chr8:8q24.22 |
likely benign |
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 |
copy number gain |
See cases [RCV000448954] |
Chr8:98432250..146222672 [GRCh37] Chr8:8q22.1-24.3 |
pathogenic |
NM_003235.5(TG):c.3856C>A (p.Leu1286Met) |
single nucleotide variant |
not provided [RCV000485209] |
Chr8:132908194 [GRCh38] Chr8:133920439 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.266dup (p.Val90fs) |
duplication |
Iodotyrosyl coupling defect [RCV000503286] |
Chr8:132869816..132869817 [GRCh38] Chr8:133882061..133882062 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.6563-3C>T |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161911]|not specified [RCV000503840] |
Chr8:133017775 [GRCh38] Chr8:134030020 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.229G>A (p.Gly77Ser) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000760170]|Iodotyrosyl coupling defect [RCV000764740]|TG-Related Disorders [RCV003155217]|not provided [RCV001729618]|not specified [RCV000501874] |
Chr8:132869781 [GRCh38] Chr8:133882026 [GRCh37] Chr8:8q24.22 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_003235.5(TG):c.144C>T (p.Tyr48=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161227]|not provided [RCV000948806]|not specified [RCV000499743] |
Chr8:132868191 [GRCh38] Chr8:133880436 [GRCh37] Chr8:8q24.22 |
benign|likely benign|uncertain significance |
NM_003235.5(TG):c.7396C>G (p.Gln2466Glu) |
single nucleotide variant |
not specified [RCV000502203] |
Chr8:133095200 [GRCh38] Chr8:134107444 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7083G>T (p.Ala2361=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163722]|not provided [RCV000971379]|not specified [RCV000500104] |
Chr8:133029867 [GRCh38] Chr8:134042112 [GRCh37] Chr8:8q24.22 |
benign|likely benign|uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) |
copy number gain |
See cases [RCV000510234] |
Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q24.21-24.22(chr8:131025817-133947836)x3 |
copy number gain |
See cases [RCV000511900] |
Chr8:131025817..133947836 [GRCh37] Chr8:8q24.21-24.22 |
uncertain significance |
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 |
copy number gain |
See cases [RCV000511761] |
Chr8:93047482..141355635 [GRCh37] Chr8:8q21.3-24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 |
copy number gain |
See cases [RCV000511095] |
Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 |
copy number gain |
See cases [RCV000511002] |
Chr8:86841154..146295771 [GRCh37] Chr8:8q21.2-24.3 |
pathogenic |
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 |
copy number gain |
See cases [RCV000510854] |
Chr8:86841228..142689874 [GRCh37] Chr8:8q21.2-24.3 |
pathogenic |
NM_003235.5(TG):c.1529T>C (p.Leu510Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003256170] |
Chr8:132886901 [GRCh38] Chr8:133899146 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5509_5518del (p.Lys1837fs) |
deletion |
not provided [RCV000627572] |
Chr8:132963035..132963044 [GRCh38] Chr8:133975280..133975289 [GRCh37] Chr8:8q24.22 |
pathogenic|likely pathogenic |
NM_003235.5(TG):c.2849G>C (p.Arg950Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003240942] |
Chr8:132893777 [GRCh38] Chr8:133906022 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2246C>G (p.Ser749Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003244360] |
Chr8:132888053 [GRCh38] Chr8:133900298 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_001045556.3(SLA):c.69T>A (p.Asp23Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003299985] |
Chr8:133050908 [GRCh38] Chr8:134063153 [GRCh37] Chr8:8q24.22 |
likely benign |
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 |
copy number gain |
See cases [RCV000512401] |
Chr8:114853126..146295771 [GRCh37] Chr8:8q23.3-24.3 |
pathogenic |
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 |
copy number gain |
See cases [RCV000512169] |
Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3 |
pathogenic |
NM_003235.5(TG):c.6550T>A (p.Tyr2184Asn) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV003486273] |
Chr8:133013752 [GRCh38] Chr8:134025997 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.1971G>A (p.Arg657=) |
single nucleotide variant |
not provided [RCV003825375] |
Chr8:132887343 [GRCh38] Chr8:133899588 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7277del (p.His2426fs) |
deletion |
not provided [RCV003690775] |
Chr8:133095081 [GRCh38] Chr8:134107325 [GRCh37] Chr8:8q24.22 |
pathogenic |
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 |
copy number gain |
not provided [RCV000683044] |
Chr8:121694649..146295771 [GRCh37] Chr8:8q24.12-24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 |
copy number gain |
not provided [RCV000747248] |
Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 |
copy number gain |
not provided [RCV000747254] |
Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q24.22-24.3(chr8:133621137-140433338)x1 |
copy number loss |
not provided [RCV000747861] |
Chr8:133621137..140433338 [GRCh37] Chr8:8q24.22-24.3 |
likely pathogenic |
NM_003235.5(TG):c.5401+91C>T |
single nucleotide variant |
not provided [RCV001643379] |
Chr8:132949034 [GRCh38] Chr8:133961279 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.7998-202G>A |
single nucleotide variant |
not provided [RCV001693415] |
Chr8:133133268 [GRCh38] Chr8:134145512 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.5041+132T>G |
single nucleotide variant |
not provided [RCV001707370] |
Chr8:132935996 [GRCh38] Chr8:133948241 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.4671G>A (p.Glu1557=) |
single nucleotide variant |
not provided [RCV000979641] |
Chr8:132923480 [GRCh38] Chr8:133935725 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1065G>A (p.Pro355=) |
single nucleotide variant |
not provided [RCV000980000] |
Chr8:132882989 [GRCh38] Chr8:133895234 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6397+292G>A |
single nucleotide variant |
not provided [RCV001667758] |
Chr8:133012327 [GRCh38] Chr8:134024572 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.2762-327C>T |
single nucleotide variant |
not provided [RCV001647863] |
Chr8:132893363 [GRCh38] Chr8:133905608 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.3434-73A>G |
single nucleotide variant |
not provided [RCV001681692] |
Chr8:132901280 [GRCh38] Chr8:133913525 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.199G>A (p.Gly67Ser) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001162774]|not provided [RCV000962341] |
Chr8:132869751 [GRCh38] Chr8:133881996 [GRCh37] Chr8:8q24.22 |
benign|likely benign|uncertain significance |
NM_003235.5(TG):c.1434G>A (p.Val478=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161342]|not provided [RCV000962342] |
Chr8:132886806 [GRCh38] Chr8:133899051 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.1099G>T (p.Glu367Ter) |
single nucleotide variant |
not provided [RCV000760812] |
Chr8:132886471 [GRCh38] Chr8:133898716 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.5976-298G>A |
single nucleotide variant |
not provided [RCV001611000] |
Chr8:132971496 [GRCh38] Chr8:133983741 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.4160-174A>G |
single nucleotide variant |
not provided [RCV001680182] |
Chr8:132912873 [GRCh38] Chr8:133925118 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.3331-240A>C |
single nucleotide variant |
not provided [RCV001643234] |
Chr8:132899997 [GRCh38] Chr8:133912242 [GRCh37] Chr8:8q24.22 |
benign |
NM_001045556.3(SLA):c.-319+7574T>C |
single nucleotide variant |
not provided [RCV001689455] |
Chr8:133094979 [GRCh38] Chr8:134107223 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.1862C>T (p.Thr621Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003353184]|Iodotyrosyl coupling defect [RCV001164971] |
Chr8:132887234 [GRCh38] Chr8:133899479 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4932+337T>C |
single nucleotide variant |
not provided [RCV001648627] |
Chr8:132934013 [GRCh38] Chr8:133946258 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.68-26T>C |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001838773]|not provided [RCV001681609] |
Chr8:132868089 [GRCh38] Chr8:133880334 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.1612_1613insGTTAAGGTTAAG (p.Ala538delinsGlyTer) |
insertion |
not provided [RCV000999073] |
Chr8:132886983..132886984 [GRCh38] Chr8:133899228..133899229 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.6183A>G (p.Gly2061=) |
single nucleotide variant |
not provided [RCV000922557] |
Chr8:132972725 [GRCh38] Chr8:133984970 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7665C>T (p.Arg2555=) |
single nucleotide variant |
not provided [RCV000905538]|not specified [RCV001818784] |
Chr8:133113514 [GRCh38] Chr8:134125758 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.7140G>A (p.Val2380=) |
single nucleotide variant |
not provided [RCV000906001] |
Chr8:133029924 [GRCh38] Chr8:134042169 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6055+9G>A |
single nucleotide variant |
not provided [RCV000901633] |
Chr8:132971882 [GRCh38] Chr8:133984127 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5402-8C>T |
single nucleotide variant |
not provided [RCV000900365] |
Chr8:132961000 [GRCh38] Chr8:133973245 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.176+9T>C |
single nucleotide variant |
not provided [RCV000881286] |
Chr8:132868232 [GRCh38] Chr8:133880477 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.366T>C (p.Asp122=) |
single nucleotide variant |
not provided [RCV000929556] |
Chr8:132871439 [GRCh38] Chr8:133883684 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6885C>T (p.Asn2295=) |
single nucleotide variant |
not provided [RCV000904286] |
Chr8:133021999 [GRCh38] Chr8:134034244 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4257G>A (p.Ala1419=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161695]|not provided [RCV000906148] |
Chr8:132913144 [GRCh38] Chr8:133925389 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.4859C>T (p.Thr1620Met) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001165309]|not provided [RCV000906150] |
Chr8:132933603 [GRCh38] Chr8:133945848 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.5592C>T (p.Val1864=) |
single nucleotide variant |
not provided [RCV000959007] |
Chr8:132966603 [GRCh38] Chr8:133978848 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2963G>A (p.Arg988His) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001165078]|not provided [RCV000948807] |
Chr8:132893891 [GRCh38] Chr8:133906136 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.6886G>A (p.Ala2296Thr) |
single nucleotide variant |
not provided [RCV000972456] |
Chr8:133022000 [GRCh38] Chr8:134034245 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5571C>T (p.Ser1857=) |
single nucleotide variant |
not provided [RCV000921279] |
Chr8:132966582 [GRCh38] Chr8:133978827 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4797C>T (p.Pro1599=) |
single nucleotide variant |
not provided [RCV000923422] |
Chr8:132929173 [GRCh38] Chr8:133941418 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1557C>G (p.Ala519=) |
single nucleotide variant |
not provided [RCV000898980] |
Chr8:132886929 [GRCh38] Chr8:133899174 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.555G>A (p.Ala185=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001164849]|not provided [RCV000883925] |
Chr8:132873138 [GRCh38] Chr8:133885383 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.60T>C (p.Asn20=) |
single nucleotide variant |
not provided [RCV000901268] |
Chr8:132867060 [GRCh38] Chr8:133879305 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.981G>A (p.Ala327=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001159942]|not provided [RCV000923414] |
Chr8:132882905 [GRCh38] Chr8:133895150 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.6498T>C (p.Ser2166=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158697]|not provided [RCV000880266] |
Chr8:133013700 [GRCh38] Chr8:134025945 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.3665C>T (p.Ser1222Leu) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001165188]|Iodotyrosyl coupling defect [RCV002489303]|not provided [RCV000950738] |
Chr8:132906718 [GRCh38] Chr8:133918963 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.8043T>C (p.Phe2681=) |
single nucleotide variant |
not provided [RCV000926622] |
Chr8:133133515 [GRCh38] Chr8:134145759 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5071C>T (p.Arg1691Cys) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158580]|not provided [RCV000899498] |
Chr8:132941380 [GRCh38] Chr8:133953625 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.913C>A (p.Arg305=) |
single nucleotide variant |
not provided [RCV000879990] |
Chr8:132882837 [GRCh38] Chr8:133895082 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1573G>A (p.Gly525Arg) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001162888]|not provided [RCV000902126] |
Chr8:132886945 [GRCh38] Chr8:133899190 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.8026C>T (p.Arg2676Trp) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163834]|not provided [RCV000949747] |
Chr8:133133498 [GRCh38] Chr8:134145742 [GRCh37] Chr8:8q24.22 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_003235.5(TG):c.3894C>A (p.Leu1298=) |
single nucleotide variant |
not provided [RCV000921048] |
Chr8:132908232 [GRCh38] Chr8:133920477 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5864-8C>T |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163319]|not provided [RCV000906851] |
Chr8:132969450 [GRCh38] Chr8:133981695 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.4668A>G (p.Thr1556=) |
single nucleotide variant |
not provided [RCV000922594] |
Chr8:132923477 [GRCh38] Chr8:133935722 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4484T>C (p.Val1495Ala) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163209]|not provided [RCV000967105] |
Chr8:132919481 [GRCh38] Chr8:133931726 [GRCh37] Chr8:8q24.22 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_003235.5(TG):c.4537G>T (p.Asp1513Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002536829]|not provided [RCV000881430] |
Chr8:132923346 [GRCh38] Chr8:133935591 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.5219C>A (p.Thr1740Lys) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158581]|not provided [RCV000881431] |
Chr8:132941528 [GRCh38] Chr8:133953773 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.1333C>T (p.Arg445Ter) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000779551]|not provided [RCV002536858] |
Chr8:132886705 [GRCh38] Chr8:133898950 [GRCh37] Chr8:8q24.22 |
pathogenic|uncertain significance |
NM_003235.5(TG):c.1963C>T (p.Gln655Ter) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000778851] |
Chr8:132887335 [GRCh38] Chr8:133899580 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.5895C>A (p.Tyr1965Ter) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000778852] |
Chr8:132969489 [GRCh38] Chr8:133981734 [GRCh37] Chr8:8q24.22 |
pathogenic|uncertain significance |
NM_003235.5(TG):c.7753C>T (p.Arg2585Trp) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000778854]|not provided [RCV000897827] |
Chr8:133113602 [GRCh38] Chr8:134125846 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.8205del (p.Gln2736fs) |
deletion |
Iodotyrosyl coupling defect [RCV000778855] |
Chr8:133134690 [GRCh38] Chr8:134146934 [GRCh37] Chr8:8q24.22 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_003235.5(TG):c.2359C>T (p.Arg787Ter) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000778925] |
Chr8:132888166 [GRCh38] Chr8:133900411 [GRCh37] Chr8:8q24.22 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_003235.5(TG):c.4378G>A (p.Val1460Ile) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000778926]|not provided [RCV000999075] |
Chr8:132913265 [GRCh38] Chr8:133925510 [GRCh37] Chr8:8q24.22 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_003235.5(TG):c.6055+7A>G |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001165418]|not provided [RCV000965086] |
Chr8:132971880 [GRCh38] Chr8:133984125 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.4110A>T (p.Ser1370=) |
single nucleotide variant |
not provided [RCV000932868] |
Chr8:132911484 [GRCh38] Chr8:133923729 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2184G>A (p.Thr728=) |
single nucleotide variant |
not provided [RCV000940171] |
Chr8:132887991 [GRCh38] Chr8:133900236 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3666G>A (p.Ser1222=) |
single nucleotide variant |
not provided [RCV000898202] |
Chr8:132906719 [GRCh38] Chr8:133918964 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.537A>G (p.Ser179=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001164848]|not provided [RCV000967103] |
Chr8:132873120 [GRCh38] Chr8:133885365 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.6056-9C>T |
single nucleotide variant |
not provided [RCV000905887] |
Chr8:132972589 [GRCh38] Chr8:133984834 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5373G>A (p.Leu1791=) |
single nucleotide variant |
not provided [RCV000933234] |
Chr8:132948915 [GRCh38] Chr8:133961160 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6300A>G (p.Ser2100=) |
single nucleotide variant |
not provided [RCV000895656] |
Chr8:133011938 [GRCh38] Chr8:134024183 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3494A>G (p.Tyr1165Cys) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163107]|not provided [RCV000968131] |
Chr8:132901413 [GRCh38] Chr8:133913658 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.2581A>G (p.Ile861Val) |
single nucleotide variant |
not provided [RCV000977904] |
Chr8:132888388 [GRCh38] Chr8:133900633 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.372G>A (p.Gly124=) |
single nucleotide variant |
not provided [RCV000940591] |
Chr8:132871445 [GRCh38] Chr8:133883690 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6199+8C>A |
single nucleotide variant |
not provided [RCV000959037] |
Chr8:132972749 [GRCh38] Chr8:133984994 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.4773C>T (p.Ser1591=) |
single nucleotide variant |
not provided [RCV000897408] |
Chr8:132929149 [GRCh38] Chr8:133941394 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1021G>C (p.Ala341Pro) |
single nucleotide variant |
not provided [RCV000895860] |
Chr8:132882945 [GRCh38] Chr8:133895190 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6565A>G (p.Ile2189Val) |
single nucleotide variant |
not provided [RCV000967756] |
Chr8:133017780 [GRCh38] Chr8:134030025 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2064T>C (p.Thr688=) |
single nucleotide variant |
not provided [RCV000919907] |
Chr8:132887436 [GRCh38] Chr8:133899681 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3081C>T (p.Tyr1027=) |
single nucleotide variant |
not provided [RCV000923415] |
Chr8:132897728 [GRCh38] Chr8:133909973 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3930C>T (p.Tyr1310=) |
single nucleotide variant |
not provided [RCV000927097] |
Chr8:132908268 [GRCh38] Chr8:133920513 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7862+7C>A |
single nucleotide variant |
not provided [RCV000938745] |
Chr8:133116723 [GRCh38] Chr8:134128967 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7335A>T (p.Ser2445=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158803]|not provided [RCV000941136] |
Chr8:133095139 [GRCh38] Chr8:134107383 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.6180C>T (p.Phe2060=) |
single nucleotide variant |
not provided [RCV000901946] |
Chr8:132972722 [GRCh38] Chr8:133984967 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.105G>A (p.Glu35=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161225]|not provided [RCV000954180] |
Chr8:132868152 [GRCh38] Chr8:133880397 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.7847A>T (p.Asn2616Ile) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163833]|not provided [RCV000968850] |
Chr8:133116701 [GRCh38] Chr8:134128945 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.1296G>A (p.Gln432=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161337]|not provided [RCV000884444] |
Chr8:132886668 [GRCh38] Chr8:133898913 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.2793T>C (p.Arg931=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001165076]|not provided [RCV000884445] |
Chr8:132893721 [GRCh38] Chr8:133905966 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.3313G>A (p.Val1105Ile) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163105]|not provided [RCV000884446] |
Chr8:132898893 [GRCh38] Chr8:133911138 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.5864-7T>C |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163320]|not provided [RCV000938684] |
Chr8:132969451 [GRCh38] Chr8:133981696 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.7782C>T (p.Ile2594=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163832]|not provided [RCV000897793] |
Chr8:133116636 [GRCh38] Chr8:134128880 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.325A>G (p.Ile109Val) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001162775]|not provided [RCV000954445] |
Chr8:132871398 [GRCh38] Chr8:133883643 [GRCh37] Chr8:8q24.22 |
benign|likely benign|uncertain significance |
NM_003235.5(TG):c.7449C>T (p.Ile2483=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001160154]|not provided [RCV000897141] |
Chr8:133096250 [GRCh38] Chr8:134108494 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.4851C>T (p.Thr1617=) |
single nucleotide variant |
not provided [RCV000900934] |
Chr8:132933595 [GRCh38] Chr8:133945840 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5855G>A (p.Arg1952Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002537598]|Iodotyrosyl coupling defect [RCV001163317]|not provided [RCV000906539] |
Chr8:132967962 [GRCh38] Chr8:133980207 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.7521C>T (p.Leu2507=) |
single nucleotide variant |
not provided [RCV000885988] |
Chr8:133096322 [GRCh38] Chr8:134108566 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2561G>A (p.Arg854Gln) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001162993]|not provided [RCV000963650] |
Chr8:132888368 [GRCh38] Chr8:133900613 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 |
copy number loss |
not provided [RCV001006144] |
Chr8:126892814..143750028 [GRCh37] Chr8:8q24.13-24.3 |
pathogenic |
NM_003235.5(TG):c.7836T>C (p.His2612=) |
single nucleotide variant |
not provided [RCV000914100] |
Chr8:133116690 [GRCh38] Chr8:134128934 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4990G>A (p.Val1664Met) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001165310]|not provided [RCV000999076] |
Chr8:132935813 [GRCh38] Chr8:133948058 [GRCh37] Chr8:8q24.22 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 |
copy number gain |
not provided [RCV000848478] |
Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 |
copy number loss |
not provided [RCV000848438] |
Chr8:124120772..135265846 [GRCh37] Chr8:8q24.13-24.22 |
pathogenic |
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 |
copy number gain |
not provided [RCV000849762] |
Chr8:122193546..146295771 [GRCh37] Chr8:8q24.12-24.3 |
pathogenic |
NM_003235.5(TG):c.5804del (p.Asn1935fs) |
deletion |
Hypothyroidism [RCV000850357] |
Chr8:132967910 [GRCh38] Chr8:133980155 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.946G>A (p.Val316Ile) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000988117] |
Chr8:132882870 [GRCh38] Chr8:133895115 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NC_000008.10:g.(?_133141489)_(134296574_?)dup |
duplication |
Charcot-Marie-Tooth disease type 4 [RCV000804620] |
Chr8:133141489..134296574 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.488G>A (p.Ser163Asn) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001164847] |
Chr8:132873071 [GRCh38] Chr8:133885316 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.1958G>A (p.Gly653Asp) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001164972]|not provided [RCV001310641] |
Chr8:132887330 [GRCh38] Chr8:133899575 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.1389C>T (p.Asn463=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161341]|not provided [RCV000917363] |
Chr8:132886761 [GRCh38] Chr8:133899006 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.5686+1G>T |
single nucleotide variant |
Congenital hypothyroidism [RCV000845082]|Iodotyrosyl coupling defect [RCV002223175]|not provided [RCV001858452] |
Chr8:132966698 [GRCh38] Chr8:133978943 [GRCh37] Chr8:8q24.22 |
pathogenic|likely pathogenic|not provided |
NM_003235.5(TG):c.3618C>A (p.Gly1206=) |
single nucleotide variant |
not provided [RCV000938575] |
Chr8:132901537 [GRCh38] Chr8:133913782 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.455G>A (p.Arg152His) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001164845]|Iodotyrosyl coupling defect [RCV002505745]|not provided [RCV001751295] |
Chr8:132871528 [GRCh38] Chr8:133883773 [GRCh37] Chr8:8q24.22 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_003235.5(TG):c.2018T>C (p.Met673Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002558597]|Iodotyrosyl coupling defect [RCV001164973] |
Chr8:132887390 [GRCh38] Chr8:133899635 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.5965A>G (p.Ile1989Val) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001165416] |
Chr8:132969559 [GRCh38] Chr8:133981804 [GRCh37] Chr8:8q24.22 |
uncertain significance |
GRCh37/hg19 8q24.22(chr8:131915430-135240074)x1 |
copy number loss |
not provided [RCV000845974] |
Chr8:131915430..135240074 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6272A>G (p.Asp2091Gly) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158694]|not provided [RCV000959038] |
Chr8:133011910 [GRCh38] Chr8:134024155 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.4369C>G (p.Leu1457Val) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000988118] |
Chr8:132913256 [GRCh38] Chr8:133925501 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7132C>T (p.Arg2378Trp) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163723] |
Chr8:133029916 [GRCh38] Chr8:134042161 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.5304C>G (p.Pro1768=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161801] |
Chr8:132948846 [GRCh38] Chr8:133961091 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6681G>T (p.Gln2227His) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161914] |
Chr8:133017896 [GRCh38] Chr8:134030141 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.353C>T (p.Pro118Leu) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001162776] |
Chr8:132871426 [GRCh38] Chr8:133883671 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.2652A>C (p.Ser884=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001162994] |
Chr8:132888459 [GRCh38] Chr8:133900704 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.5863+14G>A |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163318] |
Chr8:132967984 [GRCh38] Chr8:133980229 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.6770C>T (p.Ala2257Val) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163433] |
Chr8:133017985 [GRCh38] Chr8:134030230 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6797A>G (p.Gln2266Arg) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163435] |
Chr8:133019616 [GRCh38] Chr8:134031861 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.1683C>T (p.Asn561=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001162890] |
Chr8:132887055 [GRCh38] Chr8:133899300 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.7632G>T (p.Gln2544His) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163534] |
Chr8:133113481 [GRCh38] Chr8:134125725 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7657G>A (p.Asp2553Asn) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163536] |
Chr8:133113506 [GRCh38] Chr8:134125750 [GRCh37] Chr8:8q24.22 |
uncertain significance |
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 |
copy number gain |
not provided [RCV000845705] |
Chr8:125496223..146295771 [GRCh37] Chr8:8q24.13-24.3 |
pathogenic |
NM_003235.5(TG):c.2223G>T (p.Thr741=) |
single nucleotide variant |
not provided [RCV000999074] |
Chr8:132888030 [GRCh38] Chr8:133900275 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6056-22G>T |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV000988119]|not provided [RCV001537596] |
Chr8:132972576 [GRCh38] Chr8:133984821 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.2788C>T (p.Leu930Phe) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001165075] |
Chr8:132893716 [GRCh38] Chr8:133905961 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2819A>C (p.Glu940Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002558601]|Iodotyrosyl coupling defect [RCV001165077] |
Chr8:132893747 [GRCh38] Chr8:133905992 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6001G>A (p.Asp2001Asn) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001165417]|Iodotyrosyl coupling defect [RCV002483921]|not provided [RCV001529622] |
Chr8:132971819 [GRCh38] Chr8:133984064 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.925A>G (p.Thr309Ala) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001159941]|Iodotyrosyl coupling defect [RCV002480566] |
Chr8:132882849 [GRCh38] Chr8:133895094 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.1020C>T (p.Asp340=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001159944]|Iodotyrosyl coupling defect [RCV002480567] |
Chr8:132882944 [GRCh38] Chr8:133895189 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2079C>G (p.Phe693Leu) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001160053] |
Chr8:132887451 [GRCh38] Chr8:133899696 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2299G>A (p.Gly767Arg) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001160054] |
Chr8:132888106 [GRCh38] Chr8:133900351 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.4(TG):c.-55G>A |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161223] |
Chr8:132866946 [GRCh38] Chr8:133879191 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2444G>A (p.Gly815Glu) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161461] |
Chr8:132888251 [GRCh38] Chr8:133900496 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3040G>C (p.Asp1014His) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158366]|Iodotyrosyl coupling defect [RCV002483903] |
Chr8:132897687 [GRCh38] Chr8:133909932 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6518G>A (p.Arg2173Gln) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158698] |
Chr8:133013720 [GRCh38] Chr8:134025965 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7156C>T (p.Arg2386Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003250325] |
Chr8:133029940 [GRCh38] Chr8:134042185 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6370T>C (p.Ser2124Pro) |
single nucleotide variant |
not provided [RCV003230189] |
Chr8:133012008 [GRCh38] Chr8:134024253 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4192C>T (p.Arg1398Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003250869] |
Chr8:132913079 [GRCh38] Chr8:133925324 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4933-255T>C |
single nucleotide variant |
not provided [RCV001675026] |
Chr8:132935501 [GRCh38] Chr8:133947746 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.6056-23dup |
duplication |
not provided [RCV001660779] |
Chr8:132972569..132972570 [GRCh38] Chr8:133984814..133984815 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.6199+129A>G |
single nucleotide variant |
not provided [RCV001651883] |
Chr8:132972870 [GRCh38] Chr8:133985115 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.4529-291T>C |
single nucleotide variant |
not provided [RCV001659138] |
Chr8:132923047 [GRCh38] Chr8:133935292 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.5549-94C>G |
single nucleotide variant |
not provided [RCV001659188] |
Chr8:132966466 [GRCh38] Chr8:133978711 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.4933-165T>G |
single nucleotide variant |
not provided [RCV001692915] |
Chr8:132935591 [GRCh38] Chr8:133947836 [GRCh37] Chr8:8q24.22 |
benign |
NM_001045556.3(SLA):c.-319+7661A>C |
single nucleotide variant |
not provided [RCV001652084] |
Chr8:133094892 [GRCh38] Chr8:134107136 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.3635-164A>G |
single nucleotide variant |
not provided [RCV001667079] |
Chr8:132906524 [GRCh38] Chr8:133918769 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.6397+182G>A |
single nucleotide variant |
not provided [RCV001710271] |
Chr8:133012217 [GRCh38] Chr8:134024462 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.6769G>A (p.Ala2257Thr) |
single nucleotide variant |
not provided [RCV001700562] |
Chr8:133017984 [GRCh38] Chr8:134030229 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4160-265C>T |
single nucleotide variant |
not provided [RCV001650223] |
Chr8:132912782 [GRCh38] Chr8:133925027 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.8189-298A>G |
single nucleotide variant |
not provided [RCV001685324] |
Chr8:133134378 [GRCh38] Chr8:134146622 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.7754+192A>G |
single nucleotide variant |
not provided [RCV001643983] |
Chr8:133113795 [GRCh38] Chr8:134126039 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.5233+120G>T |
single nucleotide variant |
not provided [RCV001694542] |
Chr8:132941662 [GRCh38] Chr8:133953907 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.5234-85T>C |
single nucleotide variant |
not provided [RCV001686144] |
Chr8:132948691 [GRCh38] Chr8:133960936 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.7020C>T (p.Phe2340=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163437]|not provided [RCV000899165] |
Chr8:133022134 [GRCh38] Chr8:134034379 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.3180T>C (p.Pro1060=) |
single nucleotide variant |
not provided [RCV000922503] |
Chr8:132898209 [GRCh38] Chr8:133910454 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7414G>C (p.Val2472Leu) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158808]|not provided [RCV000947135] |
Chr8:133096215 [GRCh38] Chr8:134108459 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.1821C>T (p.Thr607=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001164969]|not provided [RCV000975191] |
Chr8:132887193 [GRCh38] Chr8:133899438 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.7569G>A (p.Val2523=) |
single nucleotide variant |
not provided [RCV000931593]|not specified [RCV001701255] |
Chr8:133096370 [GRCh38] Chr8:134108614 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.138A>C (p.Ala46=) |
single nucleotide variant |
not provided [RCV000933539] |
Chr8:132868185 [GRCh38] Chr8:133880430 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4493C>T (p.Thr1498Met) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163210]|not provided [RCV000953588] |
Chr8:132919490 [GRCh38] Chr8:133931735 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.582C>T (p.Cys194=) |
single nucleotide variant |
not provided [RCV000918770] |
Chr8:132873165 [GRCh38] Chr8:133885410 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5299_5301del (p.Asp1767del) |
deletion |
Congenital hypothyroidism [RCV001270339]|not provided [RCV000883878] |
Chr8:132948841..132948843 [GRCh38] Chr8:133961086..133961088 [GRCh37] Chr8:8q24.22 |
likely pathogenic|benign |
NM_003235.5(TG):c.2520T>C (p.Pro840=) |
single nucleotide variant |
not provided [RCV000959035] |
Chr8:132888327 [GRCh38] Chr8:133900572 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.6984C>G (p.Leu2328=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163436]|not provided [RCV000959040] |
Chr8:133022098 [GRCh38] Chr8:134034343 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.7413C>T (p.Ala2471=) |
single nucleotide variant |
not provided [RCV000909268] |
Chr8:133096214 [GRCh38] Chr8:134108458 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.6351T>G (p.Thr2117=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158695]|not provided [RCV000907510] |
Chr8:133011989 [GRCh38] Chr8:134024234 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.2859G>A (p.Leu953=) |
single nucleotide variant |
not provided [RCV000896646] |
Chr8:132893787 [GRCh38] Chr8:133906032 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.6669G>A (p.Lys2223=) |
single nucleotide variant |
not provided [RCV000959039] |
Chr8:133017884 [GRCh38] Chr8:134030129 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.4638C>T (p.Gly1546=) |
single nucleotide variant |
not provided [RCV000930611] |
Chr8:132923447 [GRCh38] Chr8:133935692 [GRCh37] Chr8:8q24.22 |
likely benign|conflicting interpretations of pathogenicity |
NM_003235.5(TG):c.6888G>A (p.Ala2296=) |
single nucleotide variant |
not provided [RCV000910193] |
Chr8:133022002 [GRCh38] Chr8:134034247 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5391G>A (p.Glu1797=) |
single nucleotide variant |
not provided [RCV000942171] |
Chr8:132948933 [GRCh38] Chr8:133961178 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6783-3C>T |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163434]|not provided [RCV000907449] |
Chr8:133019599 [GRCh38] Chr8:134031844 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.3417G>C (p.Ser1139=) |
single nucleotide variant |
not provided [RCV000886347] |
Chr8:132900323 [GRCh38] Chr8:133912568 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4696T>C (p.Leu1566=) |
single nucleotide variant |
not provided [RCV000908181] |
Chr8:132923505 [GRCh38] Chr8:133935750 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2964T>C (p.Arg988=) |
single nucleotide variant |
not provided [RCV000978478] |
Chr8:132893892 [GRCh38] Chr8:133906137 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6876+9A>C |
single nucleotide variant |
not provided [RCV000966373] |
Chr8:133019704 [GRCh38] Chr8:134031949 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7135C>T (p.Arg2379Cys) |
single nucleotide variant |
not provided [RCV000888518] |
Chr8:133029919 [GRCh38] Chr8:134042164 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.3351G>A (p.Leu1117=) |
single nucleotide variant |
not provided [RCV000910481] |
Chr8:132900257 [GRCh38] Chr8:133912502 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.1098C>T (p.Ser366=) |
single nucleotide variant |
not provided [RCV000918006] |
Chr8:132886470 [GRCh38] Chr8:133898715 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7266C>T (p.Ala2422=) |
single nucleotide variant |
not provided [RCV000902418] |
Chr8:133095070 [GRCh38] Chr8:134107314 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7056C>A (p.Gly2352=) |
single nucleotide variant |
not provided [RCV000927098] |
Chr8:133029840 [GRCh38] Chr8:134042085 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1788T>A (p.Gly596=) |
single nucleotide variant |
not provided [RCV000929435] |
Chr8:132887160 [GRCh38] Chr8:133899405 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4551C>T (p.Asn1517=) |
single nucleotide variant |
not provided [RCV000930191] |
Chr8:132923360 [GRCh38] Chr8:133935605 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.426C>T (p.Asp142=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001162778]|not provided [RCV000910498] |
Chr8:132871499 [GRCh38] Chr8:133883744 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.3996G>T (p.Gln1332His) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158478] |
Chr8:132908334 [GRCh38] Chr8:133920579 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.5003G>A (p.Ser1668Asn) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158579] |
Chr8:132935826 [GRCh38] Chr8:133948071 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6245C>T (p.Pro2082Leu) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158693] |
Chr8:132983395 [GRCh38] Chr8:133995640 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_001045556.3(SLA):c.-319+6356G>A |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158806] |
Chr8:133096197 [GRCh38] Chr8:134108441 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.8075C>T (p.Ala2692Val) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158913] |
Chr8:133133547 [GRCh38] Chr8:134145791 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.8168C>T (p.Ser2723Leu) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158914] |
Chr8:133133640 [GRCh38] Chr8:134145884 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.5375G>A (p.Arg1792His) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161802] |
Chr8:132948917 [GRCh38] Chr8:133961162 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6530G>A (p.Arg2177His) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161910] |
Chr8:133013732 [GRCh38] Chr8:134025977 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2761+14T>C |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001162995] |
Chr8:132888582 [GRCh38] Chr8:133900827 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3407G>A (p.Arg1136Gln) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163106] |
Chr8:132900313 [GRCh38] Chr8:133912558 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.1049G>A (p.Arg350Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002558510]|Iodotyrosyl coupling defect [RCV001159945] |
Chr8:132882973 [GRCh38] Chr8:133895218 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2036G>A (p.Gly679Asp) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001160052] |
Chr8:132887408 [GRCh38] Chr8:133899653 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2323A>C (p.Asn775His) |
single nucleotide variant |
Inborn genetic diseases [RCV002558512]|Iodotyrosyl coupling defect [RCV001160055] |
Chr8:132888130 [GRCh38] Chr8:133900375 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7647C>T (p.Gly2549=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163535]|not provided [RCV003438694] |
Chr8:133113496 [GRCh38] Chr8:134125740 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.48G>A (p.Trp16Ter) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001170075] |
Chr8:132867048 [GRCh38] Chr8:133879293 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.7364G>A (p.Arg2455His) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158805]|not provided [RCV000913070] |
Chr8:133095168 [GRCh38] Chr8:134107412 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.542C>A (p.Pro181His) |
single nucleotide variant |
not provided [RCV000913353] |
Chr8:132873125 [GRCh38] Chr8:133885370 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.195C>T (p.Asn65=) |
single nucleotide variant |
not provided [RCV000933600] |
Chr8:132869747 [GRCh38] Chr8:133881992 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1332C>T (p.Ile444=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161339]|not provided [RCV000956672] |
Chr8:132886704 [GRCh38] Chr8:133898949 [GRCh37] Chr8:8q24.22 |
benign|likely benign |
NM_003235.5(TG):c.4003-4G>A |
single nucleotide variant |
not provided [RCV000956673] |
Chr8:132911373 [GRCh38] Chr8:133923618 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.3906G>A (p.Pro1302=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001165189]|not provided [RCV000913652] |
Chr8:132908244 [GRCh38] Chr8:133920489 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.639-4C>T |
single nucleotide variant |
not provided [RCV000933983] |
Chr8:132881859 [GRCh38] Chr8:133894104 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1221C>T (p.Ser407=) |
single nucleotide variant |
not provided [RCV000934960] |
Chr8:132886593 [GRCh38] Chr8:133898838 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2502G>A (p.Pro834=) |
single nucleotide variant |
not provided [RCV000911797] |
Chr8:132888309 [GRCh38] Chr8:133900554 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4932+278T>C |
single nucleotide variant |
not provided [RCV001594599] |
Chr8:132933954 [GRCh38] Chr8:133946199 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.6200-120A>G |
single nucleotide variant |
not provided [RCV001677778] |
Chr8:132983230 [GRCh38] Chr8:133995475 [GRCh37] Chr8:8q24.22 |
benign |
GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913) |
copy number gain |
Distal trisomy 8q [RCV003325441] |
Chr8:131138343..143473913 [GRCh37] Chr8:8q24.21-24.3 |
pathogenic |
NM_003235.5(TG):c.4816+189T>G |
single nucleotide variant |
not provided [RCV001596741] |
Chr8:132929381 [GRCh38] Chr8:133941626 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.5548+87C>T |
single nucleotide variant |
not provided [RCV001608375] |
Chr8:132963161 [GRCh38] Chr8:133975406 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.3218-81T>G |
single nucleotide variant |
not provided [RCV001619663] |
Chr8:132898717 [GRCh38] Chr8:133910962 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.3217+5G>A |
single nucleotide variant |
not provided [RCV001565072] |
Chr8:132898251 [GRCh38] Chr8:133910496 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.8147C>T (p.Ser2716Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002573310]|not provided [RCV001580837] |
Chr8:133133619 [GRCh38] Chr8:134145863 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4378+149A>G |
single nucleotide variant |
not provided [RCV001677546] |
Chr8:132913414 [GRCh38] Chr8:133925659 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.2761+28TG[11] |
microsatellite |
not provided [RCV001715342] |
Chr8:132888596..132888599 [GRCh38] Chr8:133900841..133900844 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.68-148G>A |
single nucleotide variant |
not provided [RCV001654168] |
Chr8:132867967 [GRCh38] Chr8:133880212 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.746-212C>T |
single nucleotide variant |
not provided [RCV001689217] |
Chr8:132882257 [GRCh38] Chr8:133894502 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.5234-30C>T |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001838732]|not provided [RCV001654353] |
Chr8:132948746 [GRCh38] Chr8:133960991 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.160G>C (p.Glu54Gln) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161228] |
Chr8:132868207 [GRCh38] Chr8:133880452 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.993G>C (p.Gln331His) |
single nucleotide variant |
Inborn genetic diseases [RCV002558509]|Iodotyrosyl coupling defect [RCV001159943]|Iodotyrosyl coupling defect [RCV002491465] |
Chr8:132882917 [GRCh38] Chr8:133895162 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3173T>A (p.Phe1058Tyr) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161577] |
Chr8:132898202 [GRCh38] Chr8:133910447 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4159+13G>A |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161691] |
Chr8:132911546 [GRCh38] Chr8:133923791 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.4256C>T (p.Ala1419Val) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161694] |
Chr8:132913143 [GRCh38] Chr8:133925388 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4323G>A (p.Ser1441=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161696] |
Chr8:132913210 [GRCh38] Chr8:133925455 [GRCh37] Chr8:8q24.22 |
benign|uncertain significance |
NM_003235.5(TG):c.6529C>T (p.Arg2177Cys) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161909] |
Chr8:133013731 [GRCh38] Chr8:134025976 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.6622C>T (p.Arg2208Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002558544]|Iodotyrosyl coupling defect [RCV001161913] |
Chr8:133017837 [GRCh38] Chr8:134030082 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6605C>G (p.Pro2202Arg) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161912]|not provided [RCV001593300] |
Chr8:133017820 [GRCh38] Chr8:134030065 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.385G>A (p.Val129Ile) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001162777]|Iodotyrosyl coupling defect [RCV002483915] |
Chr8:132871458 [GRCh38] Chr8:133883703 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.1628C>G (p.Thr543Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002558558]|Iodotyrosyl coupling defect [RCV001162889]|TG-related condition [RCV003425968] |
Chr8:132887000 [GRCh38] Chr8:133899245 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3603G>A (p.Thr1201=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163108] |
Chr8:132901522 [GRCh38] Chr8:133913767 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7594C>T (p.Arg2532Trp) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163532] |
Chr8:133113443 [GRCh38] Chr8:134125687 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7136G>A (p.Arg2379His) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163724]|not provided [RCV003438695] |
Chr8:133029920 [GRCh38] Chr8:134042165 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.6791G>A (p.Cys2264Tyr) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001175129] |
Chr8:133019610 [GRCh38] Chr8:134031855 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.4093A>T (p.Asn1365Tyr) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158479]|not provided [RCV001751291] |
Chr8:132911467 [GRCh38] Chr8:133923712 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7239+3A>G |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163725] |
Chr8:133030026 [GRCh38] Chr8:134042271 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.94C>T (p.Arg32Cys) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161224] |
Chr8:132868141 [GRCh38] Chr8:133880386 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.138A>G (p.Ala46=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161226] |
Chr8:132868185 [GRCh38] Chr8:133880430 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7414G>A (p.Val2472Met) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158807] |
Chr8:133096215 [GRCh38] Chr8:134108459 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.8189-14C>A |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158915] |
Chr8:133134662 [GRCh38] Chr8:134146906 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.8203G>A (p.Gly2735Arg) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158916] |
Chr8:133134690 [GRCh38] Chr8:134146934 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3197G>A (p.Arg1066His) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161578] |
Chr8:132898226 [GRCh38] Chr8:133910471 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4243A>C (p.Lys1415Gln) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161692] |
Chr8:132913130 [GRCh38] Chr8:133925375 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4256C>A (p.Ala1419Glu) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161693] |
Chr8:132913143 [GRCh38] Chr8:133925388 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6398-62A>G |
single nucleotide variant |
not provided [RCV001682529] |
Chr8:133013538 [GRCh38] Chr8:134025783 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.7239+275T>G |
single nucleotide variant |
not provided [RCV001671996] |
Chr8:133030298 [GRCh38] Chr8:134042543 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.4932+168T>C |
single nucleotide variant |
not provided [RCV001685916] |
Chr8:132933844 [GRCh38] Chr8:133946089 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.638+88T>C |
single nucleotide variant |
not provided [RCV001616069] |
Chr8:132873309 [GRCh38] Chr8:133885554 [GRCh37] Chr8:8q24.22 |
benign |
NM_001045556.3(SLA):c.-319+7179C>T |
single nucleotide variant |
not provided [RCV001694275] |
Chr8:133095374 [GRCh38] Chr8:134107618 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.3848-110A>G |
single nucleotide variant |
not provided [RCV001708041] |
Chr8:132908076 [GRCh38] Chr8:133920321 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.5401+49G>C |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001838780]|not provided [RCV001682258] |
Chr8:132948992 [GRCh38] Chr8:133961237 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.6262+192T>C |
single nucleotide variant |
not provided [RCV001709927] |
Chr8:132983604 [GRCh38] Chr8:133995849 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.5687-167C>T |
single nucleotide variant |
not provided [RCV001612575] |
Chr8:132967627 [GRCh38] Chr8:133979872 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.4002+39C>G |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001838782]|not provided [RCV001684937] |
Chr8:132908379 [GRCh38] Chr8:133920624 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.5554A>G (p.Thr1852Ala) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161803] |
Chr8:132966565 [GRCh38] Chr8:133978810 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.5718C>T (p.Leu1906=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161804] |
Chr8:132967825 [GRCh38] Chr8:133980070 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.5864-198C>T |
single nucleotide variant |
not provided [RCV001666662] |
Chr8:132969260 [GRCh38] Chr8:133981505 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.4933-142A>G |
single nucleotide variant |
not provided [RCV001652178] |
Chr8:132935614 [GRCh38] Chr8:133947859 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.3847+141G>A |
single nucleotide variant |
not provided [RCV001710067] |
Chr8:132907041 [GRCh38] Chr8:133919286 [GRCh37] Chr8:8q24.22 |
benign |
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 |
copy number gain |
not provided [RCV001006140] |
Chr8:121042467..146295771 [GRCh37] Chr8:8q24.12-24.3 |
pathogenic |
NM_003235.5(TG):c.478+224T>C |
single nucleotide variant |
not provided [RCV001668953] |
Chr8:132871775 [GRCh38] Chr8:133884020 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.1762C>A (p.Pro588Thr) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001162891] |
Chr8:132887134 [GRCh38] Chr8:133899379 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3639G>A (p.Pro1213=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163109] |
Chr8:132906692 [GRCh38] Chr8:133918937 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7615T>C (p.Phe2539Leu) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163533] |
Chr8:133113464 [GRCh38] Chr8:134125708 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.1835C>G (p.Pro612Arg) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001164970] |
Chr8:132887207 [GRCh38] Chr8:133899452 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6170C>A (p.Thr2057Asn) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001165419] |
Chr8:132972712 [GRCh38] Chr8:133984957 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3001+6T>G |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158365]|TG-related condition [RCV003425960] |
Chr8:132893935 [GRCh38] Chr8:133906180 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3983G>A (p.Arg1328His) |
single nucleotide variant |
Inborn genetic diseases [RCV002557354]|Iodotyrosyl coupling defect [RCV001158477] |
Chr8:132908321 [GRCh38] Chr8:133920566 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4151A>G (p.His1384Arg) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158480] |
Chr8:132911525 [GRCh38] Chr8:133923770 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7248C>T (p.Ser2416=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001163726] |
Chr8:133095052 [GRCh38] Chr8:134107296 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7363C>T (p.Arg2455Cys) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001158804]|Iodotyrosyl coupling defect [RCV002505737]|not provided [RCV002558401] |
Chr8:133095167 [GRCh38] Chr8:134107411 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.848G>A (p.Arg283Gln) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001159940]|Iodotyrosyl coupling defect [RCV002491464]|not provided [RCV001751292] |
Chr8:132882571 [GRCh38] Chr8:133894816 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.454C>T (p.Arg152Cys) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001164844] |
Chr8:132871527 [GRCh38] Chr8:133883772 [GRCh37] Chr8:8q24.22 |
uncertain significance |
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 |
copy number gain |
not provided [RCV001006146] |
Chr8:128877995..146295771 [GRCh37] Chr8:8q24.21-24.3 |
pathogenic |
NM_003235.5(TG):c.4746C>T (p.Asp1582=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001165308] |
Chr8:132929122 [GRCh38] Chr8:133941367 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.1325A>G (p.Glu442Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002558537]|Iodotyrosyl coupling defect [RCV001161338] |
Chr8:132886697 [GRCh38] Chr8:133898942 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.1364G>A (p.Arg455His) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161340] |
Chr8:132886736 [GRCh38] Chr8:133898981 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2488C>G (p.Gln830Glu) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001161462] |
Chr8:132888295 [GRCh38] Chr8:133900540 [GRCh37] Chr8:8q24.22 |
likely benign |
GRCh37/hg19 8q24.22(chr8:133176537-133891988)x1 |
copy number loss |
not provided [RCV001259030] |
Chr8:133176537..133891988 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.8210C>A (p.Ser2737Ter) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001333113] |
Chr8:133134697 [GRCh38] Chr8:134146941 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.3452del (p.Val1151fs) |
deletion |
Congenital hypothyroidism [RCV001270328] |
Chr8:132901371 [GRCh38] Chr8:133913616 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.4529-140A>G |
single nucleotide variant |
not provided [RCV001537630] |
Chr8:132923198 [GRCh38] Chr8:133935443 [GRCh37] Chr8:8q24.22 |
benign |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) |
copy number gain |
Polydactyly [RCV002280629] |
Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NM_003235.5(TG):c.958C>T (p.Arg320Cys) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001329669] |
Chr8:132882882 [GRCh38] Chr8:133895127 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4378+1G>T |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001333110] |
Chr8:132913266 [GRCh38] Chr8:133925511 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.8055G>A (p.Trp2685Ter) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001329062] |
Chr8:133133527 [GRCh38] Chr8:134145771 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.2276A>G (p.Tyr759Cys) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001329058] |
Chr8:132888083 [GRCh38] Chr8:133900328 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6131G>T (p.Arg2044Leu) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV002486481]|not provided [RCV001356073] |
Chr8:132972673 [GRCh38] Chr8:133984918 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.649dup (p.Ala217fs) |
duplication |
Congenital hypothyroidism [RCV001270324] |
Chr8:132881872..132881873 [GRCh38] Chr8:133894117..133894118 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.3329_3330+1dup |
duplication |
Iodotyrosyl coupling defect [RCV001333108] |
Chr8:132898906..132898907 [GRCh38] Chr8:133911151..133911152 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.1351C>T (p.Arg451Ter) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001333106] |
Chr8:132886723 [GRCh38] Chr8:133898968 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.7663C>T (p.Arg2555Cys) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001333112] |
Chr8:133113512 [GRCh38] Chr8:134125756 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6701C>A (p.Ala2234Asp) |
single nucleotide variant |
Congenital hypothyroidism [RCV001270320] |
Chr8:133017916 [GRCh38] Chr8:134030161 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.5182T>C (p.Cys1728Arg) |
single nucleotide variant |
Congenital hypothyroidism [RCV001270326] |
Chr8:132941491 [GRCh38] Chr8:133953736 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.2234dup (p.Leu746fs) |
duplication |
Congenital hypothyroidism [RCV001270327] |
Chr8:132888040..132888041 [GRCh38] Chr8:133900285..133900286 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.475C>T (p.Arg159Ter) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001329059]|not provided [RCV003438744] |
Chr8:132871548 [GRCh38] Chr8:133883793 [GRCh37] Chr8:8q24.22 |
pathogenic|likely pathogenic |
NM_003235.5(TG):c.6988G>A (p.Val2330Met) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001329061] |
Chr8:133022102 [GRCh38] Chr8:134034347 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.665G>A (p.Ser222Asn) |
single nucleotide variant |
not provided [RCV001354359] |
Chr8:132881889 [GRCh38] Chr8:133894134 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7502G>A (p.Trp2501Ter) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001333111] |
Chr8:133096303 [GRCh38] Chr8:134108547 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.7396dup (p.Gln2466fs) |
duplication |
not provided [RCV001387130] |
Chr8:133095197..133095198 [GRCh38] Chr8:134107441..134107442 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_001045556.3(SLA):c.-319+7053G>T |
single nucleotide variant |
not provided [RCV001540376] |
Chr8:133095500 [GRCh38] Chr8:134107744 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.506GTC[1] (p.Arg170del) |
microsatellite |
not provided [RCV001531719] |
Chr8:132873087..132873089 [GRCh38] Chr8:133885332..133885334 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6782+175A>T |
single nucleotide variant |
not provided [RCV001541183] |
Chr8:133018172 [GRCh38] Chr8:134030417 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.7573-148C>T |
single nucleotide variant |
not provided [RCV001535321] |
Chr8:133113274 [GRCh38] Chr8:134125518 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.6398-64A>T |
single nucleotide variant |
not provided [RCV001690495] |
Chr8:133013536 [GRCh38] Chr8:134025781 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.4160-83T>G |
single nucleotide variant |
not provided [RCV001688379] |
Chr8:132912964 [GRCh38] Chr8:133925209 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.7754+169= |
single nucleotide variant |
not provided [RCV001669148] |
Chr8:133113772 [GRCh38] Chr8:134126016 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.7754+186= |
single nucleotide variant |
not provided [RCV001673851] |
Chr8:133113789 [GRCh38] Chr8:134126033 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.7036+218T>G |
single nucleotide variant |
not provided [RCV001670980] |
Chr8:133022368 [GRCh38] Chr8:134034613 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.4268G>A (p.Arg1423His) |
single nucleotide variant |
not provided [RCV001531720] |
Chr8:132913155 [GRCh38] Chr8:133925400 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6783-8A>G |
single nucleotide variant |
not provided [RCV001531721] |
Chr8:133019594 [GRCh38] Chr8:134031839 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NC_000008.10:g.(?_133141509)_(134296554_?)del |
deletion |
Benign neonatal seizures [RCV001383836] |
Chr8:133141509..134296554 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.479-1G>A |
single nucleotide variant |
not provided [RCV001379159] |
Chr8:132873061 [GRCh38] Chr8:133885306 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.7165G>C (p.Ala2389Pro) |
single nucleotide variant |
not provided [RCV001727461] |
Chr8:133029949 [GRCh38] Chr8:134042194 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.275G>T (p.Cys92Phe) |
single nucleotide variant |
not provided [RCV001730404] |
Chr8:132871348 [GRCh38] Chr8:133883593 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3999C>G (p.Ile1333Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002540613]|not provided [RCV001755283] |
Chr8:132908337 [GRCh38] Chr8:133920582 [GRCh37] Chr8:8q24.22 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_003235.5(TG):c.7501_7502inv (p.Trp2501Gln) |
inversion |
Iodotyrosyl coupling defect [RCV003136143]|not provided [RCV001755548] |
Chr8:133096302..133096303 [GRCh38] Chr8:134108546..134108547 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3491G>T (p.Gly1164Val) |
single nucleotide variant |
not provided [RCV001755668] |
Chr8:132901410 [GRCh38] Chr8:133913655 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3652_3653delinsAT (p.Pro1218Ile) |
indel |
not provided [RCV001755492] |
Chr8:132906705..132906706 [GRCh38] Chr8:133918950..133918951 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3176T>C (p.Ile1059Thr) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV003147652]|not provided [RCV001755683] |
Chr8:132898205 [GRCh38] Chr8:133910450 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6707C>T (p.Pro2236Leu) |
single nucleotide variant |
not provided [RCV001727460] |
Chr8:133017922 [GRCh38] Chr8:134030167 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4777G>T (p.Val1593Phe) |
single nucleotide variant |
not provided [RCV003238478] |
Chr8:132929153 [GRCh38] Chr8:133941398 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6634_6637dup (p.Ser2213Ter) |
duplication |
Iodotyrosyl coupling defect [RCV001783865] |
Chr8:133017848..133017849 [GRCh38] Chr8:134030093..134030094 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.5835G>C (p.Gln1945His) |
single nucleotide variant |
not provided [RCV001776948] |
Chr8:132967942 [GRCh38] Chr8:133980187 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7239+4A>C |
single nucleotide variant |
not provided [RCV001776418] |
Chr8:133030027 [GRCh38] Chr8:134042272 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7400C>T (p.Thr2467Ile) |
single nucleotide variant |
not provided [RCV001768396] |
Chr8:133095204 [GRCh38] Chr8:134107448 [GRCh37] Chr8:8q24.22 |
uncertain significance |
GRCh37/hg19 8q24.21-24.3(chr8:128878931-141662233)x3 |
copy number gain |
not provided [RCV001795855] |
Chr8:128878931..141662233 [GRCh37] Chr8:8q24.21-24.3 |
uncertain significance |
NM_003235.5(TG):c.6397+2T>A |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001785061] |
Chr8:133012037 [GRCh38] Chr8:134024282 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.7450G>T (p.Asp2484Tyr) |
single nucleotide variant |
not provided [RCV001758989] |
Chr8:133096251 [GRCh38] Chr8:134108495 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.1027G>A (p.Gly343Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003163962]|not specified [RCV001819440] |
Chr8:132882951 [GRCh38] Chr8:133895196 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3G>T (p.Met1Ile) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV001808184] |
Chr8:132867003 [GRCh38] Chr8:133879248 [GRCh37] Chr8:8q24.22 |
uncertain significance |
GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771) |
copy number gain |
not specified [RCV002053797] |
Chr8:130863093..146295771 [GRCh37] Chr8:8q24.21-24.3 |
pathogenic |
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) |
copy number gain |
not specified [RCV002053772] |
Chr8:70382990..146295771 [GRCh37] Chr8:8q13.2-24.3 |
pathogenic |
NC_000008.10:g.(?_133141509)_(134296554_?)dup |
duplication |
Benign neonatal seizures [RCV001938899] |
Chr8:133141509..134296554 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3174C>T (p.Phe1058=) |
single nucleotide variant |
not specified [RCV002222904] |
Chr8:132898203 [GRCh38] Chr8:133910448 [GRCh37] Chr8:8q24.22 |
likely benign |
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) |
copy number gain |
not provided [RCV002221452] |
Chr8:96496503..146295711 [GRCh37] Chr8:8q22.1-24.3 |
pathogenic |
NC_000008.10:g.(?_134107268)_(134296554_?)del |
deletion |
Charcot-Marie-Tooth disease type 4 [RCV003116528] |
Chr8:134107268..134296554 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.7220T>C (p.Phe2407Ser) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV003148574] |
Chr8:133030004 [GRCh38] Chr8:134042249 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3847+1G>C |
single nucleotide variant |
not provided [RCV003230190] |
Chr8:132906901 [GRCh38] Chr8:133919146 [GRCh37] Chr8:8q24.22 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_003235.5(TG):c.3638C>A (p.Pro1213Gln) |
single nucleotide variant |
not provided [RCV002265464] |
Chr8:132906691 [GRCh38] Chr8:133918936 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2549T>A (p.Leu850Gln) |
single nucleotide variant |
Hypothyroidism [RCV002287784] |
Chr8:132888356 [GRCh38] Chr8:133900601 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6695C>T (p.Pro2232Leu) |
single nucleotide variant |
not specified [RCV002268731] |
Chr8:133017910 [GRCh38] Chr8:134030155 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.5992C>T (p.Arg1998Ter) |
single nucleotide variant |
not provided [RCV002285873] |
Chr8:132971810 [GRCh38] Chr8:133984055 [GRCh37] Chr8:8q24.22 |
pathogenic|likely pathogenic |
NM_003235.5(TG):c.6191A>G (p.Gln2064Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003101554]|not provided [RCV002273597] |
Chr8:132972733 [GRCh38] Chr8:133984978 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7504G>C (p.Val2502Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003261447] |
Chr8:133096305 [GRCh38] Chr8:134108549 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.5321A>C (p.Asn1774Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003283445] |
Chr8:132948863 [GRCh38] Chr8:133961108 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.5359C>A (p.His1787Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003259826] |
Chr8:132948901 [GRCh38] Chr8:133961146 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.1274T>C (p.Met425Thr) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV002464968] |
Chr8:132886646 [GRCh38] Chr8:133898891 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6610del (p.Ser2204fs) |
deletion |
Iodotyrosyl coupling defect [RCV002464969] |
Chr8:133017823 [GRCh38] Chr8:134030068 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.6185G>A (p.Trp2062Ter) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV002466834] |
Chr8:132972727 [GRCh38] Chr8:133984972 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.8137G>A (p.Ala2713Thr) |
single nucleotide variant |
not provided [RCV002306353] |
Chr8:133133609 [GRCh38] Chr8:134145853 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_001045556.3(SLA):c.73G>A (p.Asp25Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002749232] |
Chr8:133050904 [GRCh38] Chr8:134063149 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6619G>A (p.Gly2207Ser) |
single nucleotide variant |
not provided [RCV002512366] |
Chr8:133017834 [GRCh38] Chr8:134030079 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2767G>C (p.Gly923Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002992419] |
Chr8:132893695 [GRCh38] Chr8:133905940 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3805G>A (p.Gly1269Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002685085] |
Chr8:132906858 [GRCh38] Chr8:133919103 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7857T>G (p.His2619Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002772373] |
Chr8:133116711 [GRCh38] Chr8:134128955 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.8009A>G (p.Tyr2670Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002728491] |
Chr8:133133481 [GRCh38] Chr8:134145725 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_001045556.3(SLA):c.54C>A (p.Asn18Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002816923] |
Chr8:133060107 [GRCh38] Chr8:134072352 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2962C>A (p.Arg988Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002754222] |
Chr8:132893890 [GRCh38] Chr8:133906135 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4195T>C (p.Phe1399Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002754554] |
Chr8:132913082 [GRCh38] Chr8:133925327 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7042G>A (p.Gly2348Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002794264] |
Chr8:133029826 [GRCh38] Chr8:134042071 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.5702A>C (p.His1901Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002865893] |
Chr8:132967809 [GRCh38] Chr8:133980054 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4295C>T (p.Thr1432Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002748958] |
Chr8:132913182 [GRCh38] Chr8:133925427 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_001045556.3(SLA):c.266T>C (p.Leu89Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002882535] |
Chr8:133047916 [GRCh38] Chr8:134060161 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7840C>A (p.Pro2614Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002864108] |
Chr8:133116694 [GRCh38] Chr8:134128938 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6425T>C (p.Ile2142Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002818168] |
Chr8:133013627 [GRCh38] Chr8:134025872 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.476G>A (p.Arg159Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002970472] |
Chr8:132871549 [GRCh38] Chr8:133883794 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4111C>T (p.Arg1371Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002687708] |
Chr8:132911485 [GRCh38] Chr8:133923730 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_001045556.3(SLA):c.794G>A (p.Ser265Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002682400] |
Chr8:133038561 [GRCh38] Chr8:134050806 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3697A>G (p.Thr1233Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002970302] |
Chr8:132906750 [GRCh38] Chr8:133918995 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7762T>C (p.Phe2588Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002732875] |
Chr8:133116616 [GRCh38] Chr8:134128860 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.5906C>T (p.Pro1969Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002864985]|not provided [RCV003128887] |
Chr8:132969500 [GRCh38] Chr8:133981745 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3196C>T (p.Arg1066Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002571559]|not provided [RCV002508466] |
Chr8:132898225 [GRCh38] Chr8:133910470 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7457A>T (p.His2486Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002688653] |
Chr8:133096258 [GRCh38] Chr8:134108502 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2921C>T (p.Pro974Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002887183] |
Chr8:132893849 [GRCh38] Chr8:133906094 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.509G>C (p.Arg170Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003001196] |
Chr8:132873092 [GRCh38] Chr8:133885337 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_001045556.3(SLA):c.506G>A (p.Cys169Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002823217] |
Chr8:133040109 [GRCh38] Chr8:134052354 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6217C>G (p.Pro2073Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002798871] |
Chr8:132983367 [GRCh38] Chr8:133995612 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3337G>A (p.Glu1113Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002981174] |
Chr8:132900243 [GRCh38] Chr8:133912488 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3067C>G (p.Arg1023Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002887925] |
Chr8:132897714 [GRCh38] Chr8:133909959 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4014T>G (p.Phe1338Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002781638] |
Chr8:132911388 [GRCh38] Chr8:133923633 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_001045556.3(SLA):c.509T>G (p.Val170Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002661164] |
Chr8:133040106 [GRCh38] Chr8:134052351 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_001045556.3(SLA):c.-20C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002911340] |
Chr8:133060180 [GRCh38] Chr8:134072425 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.8095G>A (p.Glu2699Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002869583] |
Chr8:133133567 [GRCh38] Chr8:134145811 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2759C>A (p.Thr920Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002912336] |
Chr8:132888566 [GRCh38] Chr8:133900811 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7412C>T (p.Ala2471Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002737097] |
Chr8:133096213 [GRCh38] Chr8:134108457 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_001045556.3(SLA):c.746G>A (p.Arg249Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002691557] |
Chr8:133038609 [GRCh38] Chr8:134050854 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.116A>G (p.Glu39Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002661020] |
Chr8:132868163 [GRCh38] Chr8:133880408 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3623C>T (p.Pro1208Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002661451] |
Chr8:132901542 [GRCh38] Chr8:133913787 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.1589C>T (p.Ser530Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002848513] |
Chr8:132886961 [GRCh38] Chr8:133899206 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.352C>A (p.Pro118Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002887782] |
Chr8:132871425 [GRCh38] Chr8:133883670 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2456T>C (p.Leu819Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002911630] |
Chr8:132888263 [GRCh38] Chr8:133900508 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6415G>A (p.Ala2139Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002868792] |
Chr8:133013617 [GRCh38] Chr8:134025862 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4907A>G (p.Asn1636Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002844091] |
Chr8:132933651 [GRCh38] Chr8:133945896 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4747G>A (p.Ala1583Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002661249] |
Chr8:132929123 [GRCh38] Chr8:133941368 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7259C>T (p.Pro2420Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002739474] |
Chr8:133095063 [GRCh38] Chr8:134107307 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.5324C>G (p.Ala1775Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002707464] |
Chr8:132948866 [GRCh38] Chr8:133961111 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6770C>A (p.Ala2257Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002919751] |
Chr8:133017985 [GRCh38] Chr8:134030230 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6180C>A (p.Phe2060Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002827320] |
Chr8:132972722 [GRCh38] Chr8:133984967 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6676G>C (p.Asp2226His) |
single nucleotide variant |
Inborn genetic diseases [RCV002854039] |
Chr8:133017891 [GRCh38] Chr8:134030136 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4675C>T (p.Pro1559Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002803468] |
Chr8:132923484 [GRCh38] Chr8:133935729 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2245T>A (p.Ser749Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002983897] |
Chr8:132888052 [GRCh38] Chr8:133900297 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2984G>A (p.Arg995His) |
single nucleotide variant |
Inborn genetic diseases [RCV002850066] |
Chr8:132893912 [GRCh38] Chr8:133906157 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4877C>T (p.Ser1626Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002709318] |
Chr8:132933621 [GRCh38] Chr8:133945866 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4762G>T (p.Ala1588Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002803985] |
Chr8:132929138 [GRCh38] Chr8:133941383 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2755C>T (p.Pro919Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002892021] |
Chr8:132888562 [GRCh38] Chr8:133900807 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7031G>A (p.Ser2344Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002743729] |
Chr8:133022145 [GRCh38] Chr8:134034390 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2983C>T (p.Arg995Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002986481] |
Chr8:132893911 [GRCh38] Chr8:133906156 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6877G>A (p.Ala2293Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002874496] |
Chr8:133021991 [GRCh38] Chr8:134034236 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6766G>A (p.Asp2256Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002708840] |
Chr8:133017981 [GRCh38] Chr8:134030226 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7181T>A (p.Ile2394Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003003742] |
Chr8:133029965 [GRCh38] Chr8:134042210 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.8101A>G (p.Ser2701Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002803987] |
Chr8:133133573 [GRCh38] Chr8:134145817 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7450G>A (p.Asp2484Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002956656] |
Chr8:133096251 [GRCh38] Chr8:134108495 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.569T>C (p.Met190Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002984518] |
Chr8:132873152 [GRCh38] Chr8:133885397 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6944C>T (p.Pro2315Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002742812] |
Chr8:133022058 [GRCh38] Chr8:134034303 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6080T>C (p.Leu2027Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002941204] |
Chr8:132972622 [GRCh38] Chr8:133984867 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7462C>T (p.Leu2488Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002673685] |
Chr8:133096263 [GRCh38] Chr8:134108507 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.119C>A (p.Thr40Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002878755] |
Chr8:132868166 [GRCh38] Chr8:133880411 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.1919A>G (p.Asn640Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002792931] |
Chr8:132887291 [GRCh38] Chr8:133899536 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.6685C>T (p.Leu2229Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002713872] |
Chr8:133017900 [GRCh38] Chr8:134030145 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.506G>A (p.Arg169His) |
single nucleotide variant |
Inborn genetic diseases [RCV002896582] |
Chr8:132873089 [GRCh38] Chr8:133885334 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2751G>C (p.Lys917Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002769447] |
Chr8:132888558 [GRCh38] Chr8:133900803 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_001045556.3(SLA):c.-40-35C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002807406] |
Chr8:133060235 [GRCh38] Chr8:134072480 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6499C>G (p.Leu2167Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002808680] |
Chr8:133013701 [GRCh38] Chr8:134025946 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7460T>G (p.Phe2487Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002714146] |
Chr8:133096261 [GRCh38] Chr8:134108505 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7556G>C (p.Arg2519Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002897708] |
Chr8:133096357 [GRCh38] Chr8:134108601 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2208A>C (p.Gln736His) |
single nucleotide variant |
Inborn genetic diseases [RCV002936261] |
Chr8:132888015 [GRCh38] Chr8:133900260 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2251A>G (p.Met751Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002898513] |
Chr8:132888058 [GRCh38] Chr8:133900303 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4646G>A (p.Arg1549Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002718878] |
Chr8:132923455 [GRCh38] Chr8:133935700 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5278T>A (p.Cys1760Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002855620] |
Chr8:132948820 [GRCh38] Chr8:133961065 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6307G>A (p.Val2103Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002939276] |
Chr8:133011945 [GRCh38] Chr8:134024190 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2419A>G (p.Met807Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002960063] |
Chr8:132888226 [GRCh38] Chr8:133900471 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2111A>T (p.Tyr704Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002935347] |
Chr8:132887483 [GRCh38] Chr8:133899728 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.5476A>G (p.Met1826Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002678790] |
Chr8:132963002 [GRCh38] Chr8:133975247 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.5771A>C (p.Glu1924Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002678995] |
Chr8:132967878 [GRCh38] Chr8:133980123 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3221C>T (p.Pro1074Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002723558] |
Chr8:132898801 [GRCh38] Chr8:133911046 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_001045556.3(SLA):c.700G>A (p.Ala234Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002814138] |
Chr8:133038655 [GRCh38] Chr8:134050900 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4891G>T (p.Ala1631Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002677816] |
Chr8:132933635 [GRCh38] Chr8:133945880 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2311C>T (p.Gln771Ter) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV003131724] |
Chr8:132888118 [GRCh38] Chr8:133900363 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3 |
copy number gain |
Neurodevelopmental disorder [RCV003327615] |
Chr8:115586904..135607135 [GRCh38] Chr8:8q23.3-24.23 |
pathogenic |
NM_003235.5(TG):c.3992G>T (p.Cys1331Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003202993] |
Chr8:132908330 [GRCh38] Chr8:133920575 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3905C>T (p.Pro1302Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003197891] |
Chr8:132908243 [GRCh38] Chr8:133920488 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.583A>G (p.Lys195Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003221091] |
Chr8:132873166 [GRCh38] Chr8:133885411 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4831G>A (p.Glu1611Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003174750] |
Chr8:132933575 [GRCh38] Chr8:133945820 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_001045556.3(SLA):c.118C>T (p.Pro40Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003180790] |
Chr8:133050859 [GRCh38] Chr8:134063104 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2639C>G (p.Pro880Arg) |
single nucleotide variant |
not provided [RCV003221563] |
Chr8:132888446 [GRCh38] Chr8:133900691 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4051T>G (p.Ser1351Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003218755] |
Chr8:132911425 [GRCh38] Chr8:133923670 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3502G>A (p.Ala1168Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003198900] |
Chr8:132901421 [GRCh38] Chr8:133913666 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.8237C>T (p.Thr2746Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003358157]|not provided [RCV003229434] |
Chr8:133134724 [GRCh38] Chr8:134146968 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7595G>A (p.Arg2532Gln) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV003140978] |
Chr8:133113444 [GRCh38] Chr8:134125688 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3402G>C (p.Glu1134Asp) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV003140977] |
Chr8:132900308 [GRCh38] Chr8:133912553 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.1273A>G (p.Met425Val) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV003140975] |
Chr8:132886645 [GRCh38] Chr8:133898890 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.8071C>T (p.Arg2691Cys) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV003140987] |
Chr8:133133543 [GRCh38] Chr8:134145787 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4856C>T (p.Ser1619Phe) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV003140986] |
Chr8:132933600 [GRCh38] Chr8:133945845 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.5608C>G (p.Gln1870Glu) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV003140985] |
Chr8:132966619 [GRCh38] Chr8:133978864 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6444A>G (p.Gln2148=) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV003140984] |
Chr8:133013646 [GRCh38] Chr8:134025891 [GRCh37] Chr8:8q24.22 |
likely benign|uncertain significance |
NM_003235.5(TG):c.4589G>A (p.Arg1530Gln) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV003140983] |
Chr8:132923398 [GRCh38] Chr8:133935643 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3040G>A (p.Asp1014Asn) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV003140982]|not specified [RCV003479502] |
Chr8:132897687 [GRCh38] Chr8:133909932 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.1451A>T (p.Asn484Ile) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV003140981] |
Chr8:132886823 [GRCh38] Chr8:133899068 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2936G>A (p.Arg979Gln) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV003140980] |
Chr8:132893864 [GRCh38] Chr8:133906109 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2239T>A (p.Ser747Thr) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV003140979] |
Chr8:132888046 [GRCh38] Chr8:133900291 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6274T>C (p.Ser2092Pro) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV003140976] |
Chr8:133011912 [GRCh38] Chr8:134024157 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3748C>T (p.Arg1250Cys) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV003140974] |
Chr8:132906801 [GRCh38] Chr8:133919046 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.1129T>C (p.Phe377Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003178618] |
Chr8:132886501 [GRCh38] Chr8:133898746 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6390T>G (p.Cys2130Trp) |
single nucleotide variant |
Autoimmune thyroid disease, susceptibility to, 3 [RCV003140553] |
Chr8:133012028 [GRCh38] Chr8:134024273 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4159+1G>A |
single nucleotide variant |
not provided [RCV003223288] |
Chr8:132911534 [GRCh38] Chr8:133923779 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.6877G>T (p.Ala2293Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003219381] |
Chr8:133021991 [GRCh38] Chr8:134034236 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3622C>T (p.Pro1208Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003207481] |
Chr8:132901541 [GRCh38] Chr8:133913786 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7877C>T (p.Ala2626Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003207678] |
Chr8:133131826 [GRCh38] Chr8:134144070 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_001045556.3(SLA):c.131G>A (p.Arg44His) |
single nucleotide variant |
Inborn genetic diseases [RCV003265743] |
Chr8:133050846 [GRCh38] Chr8:134063091 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.665G>T (p.Ser222Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003309144] |
Chr8:132881889 [GRCh38] Chr8:133894134 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7637C>G (p.Ser2546Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003309438] |
Chr8:133113486 [GRCh38] Chr8:134125730 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7696C>A (p.Leu2566Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003309547] |
Chr8:133113545 [GRCh38] Chr8:134125789 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2180C>T (p.Pro727Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003262458] |
Chr8:132887987 [GRCh38] Chr8:133900232 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_001045556.3(SLA):c.664G>A (p.Glu222Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003307301] |
Chr8:133038691 [GRCh38] Chr8:134050936 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.1056A>G (p.Gln352=) |
single nucleotide variant |
not provided [RCV003568967] |
Chr8:132882980 [GRCh38] Chr8:133895225 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_001045556.3(SLA):c.689G>A (p.Arg230Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003339392] |
Chr8:133038666 [GRCh38] Chr8:134050911 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4314T>A (p.Phe1438Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003357497] |
Chr8:132913201 [GRCh38] Chr8:133925446 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2719G>C (p.Glu907Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003342713]|TG-related condition [RCV003420673] |
Chr8:132888526 [GRCh38] Chr8:133900771 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4635C>T (p.Asp1545=) |
single nucleotide variant |
Inborn genetic diseases [RCV003354519] |
Chr8:132923444 [GRCh38] Chr8:133935689 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6209A>G (p.Asn2070Ser) |
single nucleotide variant |
TG-related condition [RCV003421164] |
Chr8:132983359 [GRCh38] Chr8:133995604 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7222C>T (p.Arg2408Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003363411] |
Chr8:133030006 [GRCh38] Chr8:134042251 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4382A>C (p.Lys1461Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003363557] |
Chr8:132919379 [GRCh38] Chr8:133931624 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7373C>T (p.Pro2458Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003350163] |
Chr8:133095177 [GRCh38] Chr8:134107421 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3016C>G (p.Gln1006Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003373727] |
Chr8:132897663 [GRCh38] Chr8:133909908 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.4981C>T (p.Arg1661Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003353940] |
Chr8:132935804 [GRCh38] Chr8:133948049 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.8056C>A (p.Pro2686Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003369346] |
Chr8:133133528 [GRCh38] Chr8:134145772 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.7513G>T (p.Asp2505Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003372275] |
Chr8:133096314 [GRCh38] Chr8:134108558 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.1786G>C (p.Gly596Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003364506] |
Chr8:132887158 [GRCh38] Chr8:133899403 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.5349C>T (p.Asp1783=) |
single nucleotide variant |
not provided [RCV003691833] |
Chr8:132948891 [GRCh38] Chr8:133961136 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1719G>A (p.Glu573=) |
single nucleotide variant |
not provided [RCV003571371] |
Chr8:132887091 [GRCh38] Chr8:133899336 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3705G>A (p.Ser1235=) |
single nucleotide variant |
not provided [RCV003875775] |
Chr8:132906758 [GRCh38] Chr8:133919003 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6876+8C>G |
single nucleotide variant |
not provided [RCV003874467] |
Chr8:133019703 [GRCh38] Chr8:134031948 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4378+18C>G |
single nucleotide variant |
not provided [RCV003570753] |
Chr8:132913283 [GRCh38] Chr8:133925528 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5402-18A>G |
single nucleotide variant |
not provided [RCV003569374] |
Chr8:132960990 [GRCh38] Chr8:133973235 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7782C>A (p.Ile2594=) |
single nucleotide variant |
not provided [RCV003873044] |
Chr8:133116636 [GRCh38] Chr8:134128880 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6398-20C>G |
single nucleotide variant |
not provided [RCV003569347] |
Chr8:133013580 [GRCh38] Chr8:134025825 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2529A>G (p.Gln843=) |
single nucleotide variant |
not provided [RCV003571106] |
Chr8:132888336 [GRCh38] Chr8:133900581 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4210C>T (p.Gln1404Ter) |
single nucleotide variant |
not provided [RCV003569616] |
Chr8:132913097 [GRCh38] Chr8:133925342 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.6199+9C>T |
single nucleotide variant |
not provided [RCV003569631] |
Chr8:132972750 [GRCh38] Chr8:133984995 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3566G>A (p.Trp1189Ter) |
single nucleotide variant |
not provided [RCV003543632] |
Chr8:132901485 [GRCh38] Chr8:133913730 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.4944A>G (p.Ala1648=) |
single nucleotide variant |
not provided [RCV003826830] |
Chr8:132935767 [GRCh38] Chr8:133948012 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2176+13G>C |
single nucleotide variant |
not provided [RCV003880173] |
Chr8:132887561 [GRCh38] Chr8:133899806 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1887C>T (p.Val629=) |
single nucleotide variant |
not provided [RCV003569674] |
Chr8:132887259 [GRCh38] Chr8:133899504 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5286C>G (p.Val1762=) |
single nucleotide variant |
not provided [RCV003569682] |
Chr8:132948828 [GRCh38] Chr8:133961073 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3870C>A (p.Ile1290=) |
single nucleotide variant |
not provided [RCV003569976] |
Chr8:132908208 [GRCh38] Chr8:133920453 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7161C>A (p.Gly2387=) |
single nucleotide variant |
not provided [RCV003569761] |
Chr8:133029945 [GRCh38] Chr8:134042190 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2496C>T (p.Val832=) |
single nucleotide variant |
not provided [RCV003569742] |
Chr8:132888303 [GRCh38] Chr8:133900548 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7395C>G (p.Ala2465=) |
single nucleotide variant |
not provided [RCV003543432] |
Chr8:133095199 [GRCh38] Chr8:134107443 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4755T>C (p.Ala1585=) |
single nucleotide variant |
not provided [RCV003686291] |
Chr8:132929131 [GRCh38] Chr8:133941376 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6183A>T (p.Gly2061=) |
single nucleotide variant |
not provided [RCV003570454] |
Chr8:132972725 [GRCh38] Chr8:133984970 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5234-9G>A |
single nucleotide variant |
not provided [RCV003569989] |
Chr8:132948767 [GRCh38] Chr8:133961012 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.840G>T (p.Leu280=) |
single nucleotide variant |
not provided [RCV003873841] |
Chr8:132882563 [GRCh38] Chr8:133894808 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.8049C>T (p.Thr2683=) |
single nucleotide variant |
not provided [RCV003874576] |
Chr8:133133521 [GRCh38] Chr8:134145765 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5319T>C (p.Ala1773=) |
single nucleotide variant |
not provided [RCV003543275] |
Chr8:132948861 [GRCh38] Chr8:133961106 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1077T>C (p.Ala359=) |
single nucleotide variant |
not provided [RCV003543545] |
Chr8:132886449 [GRCh38] Chr8:133898694 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2766T>C (p.Pro922=) |
single nucleotide variant |
not provided [RCV003686302] |
Chr8:132893694 [GRCh38] Chr8:133905939 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7860C>G (p.Gly2620=) |
single nucleotide variant |
not provided [RCV003570145] |
Chr8:133116714 [GRCh38] Chr8:134128958 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6598del (p.Ser2200fs) |
deletion |
not provided [RCV003570596] |
Chr8:133017812 [GRCh38] Chr8:134030057 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.478+14A>G |
single nucleotide variant |
not provided [RCV003570845] |
Chr8:132871565 [GRCh38] Chr8:133883810 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.522G>C (p.Gly174=) |
single nucleotide variant |
not provided [RCV003543577] |
Chr8:132873105 [GRCh38] Chr8:133885350 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5946G>C (p.Val1982=) |
single nucleotide variant |
not provided [RCV003571073] |
Chr8:132969540 [GRCh38] Chr8:133981785 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3147_3157del (p.Cys1049_Asp1053delinsTer) |
deletion |
not provided [RCV003569109] |
Chr8:132898175..132898185 [GRCh38] Chr8:133910420..133910430 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.747T>C (p.Gly249=) |
single nucleotide variant |
not provided [RCV003874453] |
Chr8:132882470 [GRCh38] Chr8:133894715 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5847C>T (p.Ala1949=) |
single nucleotide variant |
not provided [RCV003874269] |
Chr8:132967954 [GRCh38] Chr8:133980199 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4251C>T (p.Phe1417=) |
single nucleotide variant |
not provided [RCV003874541] |
Chr8:132913138 [GRCh38] Chr8:133925383 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5077G>A (p.Glu1693Lys) |
single nucleotide variant |
not provided [RCV003874698] |
Chr8:132941386 [GRCh38] Chr8:133953631 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3984C>A (p.Arg1328=) |
single nucleotide variant |
not provided [RCV003570930] |
Chr8:132908322 [GRCh38] Chr8:133920567 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7831_7837dup (p.Ala2613fs) |
duplication |
Iodotyrosyl coupling defect [RCV003447814] |
Chr8:133116680..133116681 [GRCh38] Chr8:134128924..134128925 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.7755-15T>G |
single nucleotide variant |
not provided [RCV003570761] |
Chr8:133116594 [GRCh38] Chr8:134128838 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1076-7del |
deletion |
not provided [RCV003569188] |
Chr8:132886441 [GRCh38] Chr8:133898686 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1272A>T (p.Pro424=) |
single nucleotide variant |
not provided [RCV003543344] |
Chr8:132886644 [GRCh38] Chr8:133898889 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7862+11G>T |
single nucleotide variant |
not provided [RCV003543011] |
Chr8:133116727 [GRCh38] Chr8:134128971 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4817-2A>C |
single nucleotide variant |
not provided [RCV003686227] |
Chr8:132933559 [GRCh38] Chr8:133945804 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.4378+14C>G |
single nucleotide variant |
not provided [RCV003826091] |
Chr8:132913279 [GRCh38] Chr8:133925524 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2762-16A>G |
single nucleotide variant |
not provided [RCV003569379] |
Chr8:132893674 [GRCh38] Chr8:133905919 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.478+11C>T |
single nucleotide variant |
not provided [RCV003543041] |
Chr8:132871562 [GRCh38] Chr8:133883807 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2736G>T (p.Arg912=) |
single nucleotide variant |
not provided [RCV003571325] |
Chr8:132888543 [GRCh38] Chr8:133900788 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5244C>T (p.Ile1748=) |
single nucleotide variant |
not provided [RCV003826280] |
Chr8:132948786 [GRCh38] Chr8:133961031 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4528+19T>C |
single nucleotide variant |
not provided [RCV003571060] |
Chr8:132919544 [GRCh38] Chr8:133931789 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7997G>A (p.Gly2666Glu) |
single nucleotide variant |
not specified [RCV003479911] |
Chr8:133131946 [GRCh38] Chr8:134144190 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2524C>T (p.Leu842=) |
single nucleotide variant |
not provided [RCV003872608] |
Chr8:132888331 [GRCh38] Chr8:133900576 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6708G>A (p.Pro2236=) |
single nucleotide variant |
not provided [RCV003440666] |
Chr8:133017923 [GRCh38] Chr8:134030168 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3217+19G>T |
single nucleotide variant |
not provided [RCV003568988] |
Chr8:132898265 [GRCh38] Chr8:133910510 [GRCh37] Chr8:8q24.22 |
likely benign |
GRCh37/hg19 8q24.22-24.23(chr8:131958531-136738670)x1 |
copy number loss |
not provided [RCV003483040] |
Chr8:131958531..136738670 [GRCh37] Chr8:8q24.22-24.23 |
uncertain significance |
GRCh37/hg19 8q24.22(chr8:134038654-134241503)x3 |
copy number gain |
not provided [RCV003484750] |
Chr8:134038654..134241503 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.1205C>G (p.Ala402Gly) |
single nucleotide variant |
TG-related condition [RCV003399633] |
Chr8:132886577 [GRCh38] Chr8:133898822 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.117A>G (p.Glu39=) |
single nucleotide variant |
not provided [RCV003826166] |
Chr8:132868164 [GRCh38] Chr8:133880409 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2202T>C (p.Ser734=) |
single nucleotide variant |
not provided [RCV003691360] |
Chr8:132888009 [GRCh38] Chr8:133900254 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.246C>T (p.Gly82=) |
single nucleotide variant |
not provided [RCV003440651] |
Chr8:132869798 [GRCh38] Chr8:133882043 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1777A>C (p.Arg593=) |
single nucleotide variant |
not provided [RCV003440652] |
Chr8:132887149 [GRCh38] Chr8:133899394 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3879A>G (p.Gln1293=) |
single nucleotide variant |
not provided [RCV003440660] |
Chr8:132908217 [GRCh38] Chr8:133920462 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4474C>T (p.Pro1492Ser) |
single nucleotide variant |
not provided [RCV003440661] |
Chr8:132919471 [GRCh38] Chr8:133931716 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.5447A>G (p.Gln1816Arg) |
single nucleotide variant |
not provided [RCV003440662] |
Chr8:132961053 [GRCh38] Chr8:133973298 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6397G>C (p.Glu2133Gln) |
single nucleotide variant |
not provided [RCV003440663] |
Chr8:133012035 [GRCh38] Chr8:134024280 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.6621C>A (p.Gly2207=) |
single nucleotide variant |
not provided [RCV003440664] |
Chr8:133017836 [GRCh38] Chr8:134030081 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6622C>A (p.Arg2208=) |
single nucleotide variant |
not provided [RCV003440665] |
Chr8:133017837 [GRCh38] Chr8:134030082 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7143C>A (p.Ser2381=) |
single nucleotide variant |
not provided [RCV003440667] |
Chr8:133029927 [GRCh38] Chr8:134042172 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7564G>C (p.Ala2522Pro) |
single nucleotide variant |
not provided [RCV003440668] |
Chr8:133096365 [GRCh38] Chr8:134108609 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_001045556.3(SLA):c.-320C>T |
single nucleotide variant |
not provided [RCV003440669] |
Chr8:133102554 [GRCh38] Chr8:134114798 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1775C>T (p.Ala592Val) |
single nucleotide variant |
not provided [RCV003435620] |
Chr8:132887147 [GRCh38] Chr8:133899392 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2442C>T (p.Ser814=) |
single nucleotide variant |
not provided [RCV003440656] |
Chr8:132888249 [GRCh38] Chr8:133900494 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2934C>G (p.Pro978=) |
single nucleotide variant |
not provided [RCV003440657] |
Chr8:132893862 [GRCh38] Chr8:133906107 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3231C>T (p.Cys1077=) |
single nucleotide variant |
not provided [RCV003440658] |
Chr8:132898811 [GRCh38] Chr8:133911056 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3836G>A (p.Arg1279Gln) |
single nucleotide variant |
not provided [RCV003440659] |
Chr8:132906889 [GRCh38] Chr8:133919134 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.1890A>T (p.Gln630His) |
single nucleotide variant |
not provided [RCV003440653] |
Chr8:132887262 [GRCh38] Chr8:133899507 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.2031T>G (p.Pro677=) |
single nucleotide variant |
not provided [RCV003440654] |
Chr8:132887403 [GRCh38] Chr8:133899648 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2223G>A (p.Thr741=) |
single nucleotide variant |
not provided [RCV003440655] |
Chr8:132888030 [GRCh38] Chr8:133900275 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7249G>A (p.Ala2417Thr) |
single nucleotide variant |
not provided [RCV003435621] |
Chr8:133095053 [GRCh38] Chr8:134107297 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5729_5730del (p.Thr1910fs) |
deletion |
TG-related condition [RCV003412450] |
Chr8:132967835..132967836 [GRCh38] Chr8:133980080..133980081 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.184C>A (p.Gln62Lys) |
single nucleotide variant |
TG-related condition [RCV003414280] |
Chr8:132869736 [GRCh38] Chr8:133881981 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.5976-2A>C |
single nucleotide variant |
TG-related condition [RCV003410521] |
Chr8:132971792 [GRCh38] Chr8:133984037 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.7006C>T (p.Arg2336Ter) |
single nucleotide variant |
TG-Related Disorders [RCV003388564] |
Chr8:133022120 [GRCh38] Chr8:134034365 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.6842G>A (p.Cys2281Tyr) |
single nucleotide variant |
Iodotyrosyl coupling defect [RCV003447835] |
Chr8:133019661 [GRCh38] Chr8:134031906 [GRCh37] Chr8:8q24.22 |
uncertain significance |
NM_003235.5(TG):c.3140-12G>T |
single nucleotide variant |
not provided [RCV003831467] |
Chr8:132898157 [GRCh38] Chr8:133910402 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3218-16C>T |
single nucleotide variant |
not provided [RCV003827886] |
Chr8:132898782 [GRCh38] Chr8:133911027 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.639-9C>T |
single nucleotide variant |
not provided [RCV003579188] |
Chr8:132881854 [GRCh38] Chr8:133894099 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.890-18T>C |
single nucleotide variant |
not provided [RCV003829087] |
Chr8:132882796 [GRCh38] Chr8:133895041 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.8189-12C>T |
single nucleotide variant |
not provided [RCV003694141] |
Chr8:133134664 [GRCh38] Chr8:134146908 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1965G>A (p.Gln655=) |
single nucleotide variant |
not provided [RCV003831160] |
Chr8:132887337 [GRCh38] Chr8:133899582 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2761+13A>G |
single nucleotide variant |
not provided [RCV003849189] |
Chr8:132888581 [GRCh38] Chr8:133900826 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.479-6G>A |
single nucleotide variant |
not provided [RCV003849200] |
Chr8:132873056 [GRCh38] Chr8:133885301 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.9G>C (p.Leu3=) |
single nucleotide variant |
not provided [RCV003696818] |
Chr8:132867009 [GRCh38] Chr8:133879254 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.274+20G>C |
single nucleotide variant |
not provided [RCV003829447] |
Chr8:132869846 [GRCh38] Chr8:133882091 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.8274C>T (p.Leu2758=) |
single nucleotide variant |
not provided [RCV003825376] |
Chr8:133134761 [GRCh38] Chr8:134147005 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2874G>T (p.Leu958=) |
single nucleotide variant |
not provided [RCV003661482] |
Chr8:132893802 [GRCh38] Chr8:133906047 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3694_3697dup (p.Thr1233fs) |
microsatellite |
not provided [RCV003696111] |
Chr8:132906746..132906747 [GRCh38] Chr8:133918991..133918992 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.6423C>T (p.Leu2141=) |
single nucleotide variant |
not provided [RCV003687185] |
Chr8:133013625 [GRCh38] Chr8:134025870 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7036+20G>A |
single nucleotide variant |
not provided [RCV003714836] |
Chr8:133022170 [GRCh38] Chr8:134034415 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5041+8G>C |
single nucleotide variant |
not provided [RCV003547364] |
Chr8:132935872 [GRCh38] Chr8:133948117 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1254C>T (p.Asp418=) |
single nucleotide variant |
not provided [RCV003829743] |
Chr8:132886626 [GRCh38] Chr8:133898871 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4464G>A (p.Leu1488=) |
single nucleotide variant |
not provided [RCV003695765] |
Chr8:132919461 [GRCh38] Chr8:133931706 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5041+9dup |
duplication |
not provided [RCV003579379] |
Chr8:132935871..132935872 [GRCh38] Chr8:133948116..133948117 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6387C>G (p.Leu2129=) |
single nucleotide variant |
not provided [RCV003692279] |
Chr8:133012025 [GRCh38] Chr8:134024270 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4378+8C>G |
single nucleotide variant |
not provided [RCV003576278] |
Chr8:132913273 [GRCh38] Chr8:133925518 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5121C>T (p.Pro1707=) |
single nucleotide variant |
not provided [RCV003695825] |
Chr8:132941430 [GRCh38] Chr8:133953675 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7092C>T (p.Thr2364=) |
single nucleotide variant |
not provided [RCV003714970] |
Chr8:133029876 [GRCh38] Chr8:134042121 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.275-9T>C |
single nucleotide variant |
not provided [RCV003829579] |
Chr8:132871339 [GRCh38] Chr8:133883584 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_001045556.3(SLA):c.-319+6164C>T |
single nucleotide variant |
not provided [RCV003696473] |
Chr8:133096389 [GRCh38] Chr8:134108633 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4160-9G>A |
single nucleotide variant |
not provided [RCV003696578] |
Chr8:132913038 [GRCh38] Chr8:133925283 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1075+19C>A |
single nucleotide variant |
not provided [RCV003691250] |
Chr8:132883018 [GRCh38] Chr8:133895263 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3231C>A (p.Cys1077Ter) |
single nucleotide variant |
not provided [RCV003694694] |
Chr8:132898811 [GRCh38] Chr8:133911056 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.6263-17G>A |
single nucleotide variant |
not provided [RCV003829651] |
Chr8:133011884 [GRCh38] Chr8:134024129 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4434T>C (p.Val1478=) |
single nucleotide variant |
not provided [RCV003692552] |
Chr8:132919431 [GRCh38] Chr8:133931676 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2103A>G (p.Ser701=) |
single nucleotide variant |
not provided [RCV003831866] |
Chr8:132887475 [GRCh38] Chr8:133899720 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1105C>T (p.Gln369Ter) |
single nucleotide variant |
not provided [RCV003662052] |
Chr8:132886477 [GRCh38] Chr8:133898722 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.638+12_638+21del |
deletion |
not provided [RCV003692636] |
Chr8:132873231..132873240 [GRCh38] Chr8:133885476..133885485 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4077G>A (p.Arg1359=) |
single nucleotide variant |
not provided [RCV003740361] |
Chr8:132911451 [GRCh38] Chr8:133923696 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5883G>T (p.Val1961=) |
single nucleotide variant |
not provided [RCV003880799] |
Chr8:132969477 [GRCh38] Chr8:133981722 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4827G>A (p.Glu1609=) |
single nucleotide variant |
not provided [RCV003715189] |
Chr8:132933571 [GRCh38] Chr8:133945816 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7326C>T (p.Cys2442=) |
single nucleotide variant |
not provided [RCV003576487] |
Chr8:133095130 [GRCh38] Chr8:134107374 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5901C>T (p.Arg1967=) |
single nucleotide variant |
not provided [RCV003740066] |
Chr8:132969495 [GRCh38] Chr8:133981740 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.108G>T (p.Leu36=) |
single nucleotide variant |
not provided [RCV003831881] |
Chr8:132868155 [GRCh38] Chr8:133880400 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6552C>T (p.Tyr2184=) |
single nucleotide variant |
not provided [RCV003573236] |
Chr8:133013754 [GRCh38] Chr8:134025999 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5687-1G>A |
single nucleotide variant |
not provided [RCV003690369] |
Chr8:132967793 [GRCh38] Chr8:133980038 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.5052C>T (p.Ser1684=) |
single nucleotide variant |
not provided [RCV003575935] |
Chr8:132941361 [GRCh38] Chr8:133953606 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1175_1176del (p.Pro392fs) |
deletion |
not provided [RCV003693985] |
Chr8:132886547..132886548 [GRCh38] Chr8:133898792..133898793 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.4932+15C>T |
single nucleotide variant |
not provided [RCV003848867] |
Chr8:132933691 [GRCh38] Chr8:133945936 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4463T>A (p.Leu1488Ter) |
single nucleotide variant |
not provided [RCV003579209] |
Chr8:132919460 [GRCh38] Chr8:133931705 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.2496C>G (p.Val832=) |
single nucleotide variant |
not provided [RCV003660731] |
Chr8:132888303 [GRCh38] Chr8:133900548 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1224C>T (p.Cys408=) |
single nucleotide variant |
not provided [RCV003547910] |
Chr8:132886596 [GRCh38] Chr8:133898841 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.300A>G (p.Lys100=) |
single nucleotide variant |
not provided [RCV003882206] |
Chr8:132871373 [GRCh38] Chr8:133883618 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1495C>T (p.Gln499Ter) |
single nucleotide variant |
not provided [RCV003578682] |
Chr8:132886867 [GRCh38] Chr8:133899112 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.1155G>A (p.Gln385=) |
single nucleotide variant |
not provided [RCV003829032] |
Chr8:132886527 [GRCh38] Chr8:133898772 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2550G>A (p.Leu850=) |
single nucleotide variant |
not provided [RCV003579222] |
Chr8:132888357 [GRCh38] Chr8:133900602 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6786C>T (p.Ala2262=) |
single nucleotide variant |
not provided [RCV003831654] |
Chr8:133019605 [GRCh38] Chr8:134031850 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6621C>T (p.Gly2207=) |
single nucleotide variant |
not provided [RCV003579578] |
Chr8:133017836 [GRCh38] Chr8:134030081 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6199+8C>G |
single nucleotide variant |
not provided [RCV003579438] |
Chr8:132972749 [GRCh38] Chr8:133984994 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5646C>T (p.His1882=) |
single nucleotide variant |
not provided [RCV003715559] |
Chr8:132966657 [GRCh38] Chr8:133978902 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7902T>C (p.Leu2634=) |
single nucleotide variant |
not provided [RCV003849018] |
Chr8:133131851 [GRCh38] Chr8:134144095 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5975+13T>C |
single nucleotide variant |
not provided [RCV003830976] |
Chr8:132969582 [GRCh38] Chr8:133981827 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1572G>A (p.Val524=) |
single nucleotide variant |
not provided [RCV003694140] |
Chr8:132886944 [GRCh38] Chr8:133899189 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1714del (p.Leu572fs) |
deletion |
not provided [RCV003694124] |
Chr8:132887085 [GRCh38] Chr8:133899330 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.479-18T>A |
single nucleotide variant |
not provided [RCV003848937] |
Chr8:132873044 [GRCh38] Chr8:133885289 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5864-6A>G |
single nucleotide variant |
not provided [RCV003740219] |
Chr8:132969452 [GRCh38] Chr8:133981697 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3207G>A (p.Gln1069=) |
single nucleotide variant |
not provided [RCV003876130] |
Chr8:132898236 [GRCh38] Chr8:133910481 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.8107C>T (p.Leu2703=) |
single nucleotide variant |
not provided [RCV003544785] |
Chr8:133133579 [GRCh38] Chr8:134145823 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7143C>T (p.Ser2381=) |
single nucleotide variant |
not provided [RCV003713514] |
Chr8:133029927 [GRCh38] Chr8:134042172 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7926G>T (p.Gly2642=) |
single nucleotide variant |
not provided [RCV003546184] |
Chr8:133131875 [GRCh38] Chr8:134144119 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2304G>A (p.Gln768=) |
single nucleotide variant |
not provided [RCV003692353] |
Chr8:132888111 [GRCh38] Chr8:133900356 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2358A>G (p.Gln786=) |
single nucleotide variant |
not provided [RCV003882530] |
Chr8:132888165 [GRCh38] Chr8:133900410 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5233+20C>G |
single nucleotide variant |
not provided [RCV003713005] |
Chr8:132941562 [GRCh38] Chr8:133953807 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5976-9C>A |
single nucleotide variant |
not provided [RCV003544826] |
Chr8:132971785 [GRCh38] Chr8:133984030 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6012A>G (p.Pro2004=) |
single nucleotide variant |
not provided [RCV003694893] |
Chr8:132971830 [GRCh38] Chr8:133984075 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2623C>T (p.Gln875Ter) |
single nucleotide variant |
not provided [RCV003693829] |
Chr8:132888430 [GRCh38] Chr8:133900675 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.4131G>T (p.Val1377=) |
single nucleotide variant |
not provided [RCV003577103] |
Chr8:132911505 [GRCh38] Chr8:133923750 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5070A>G (p.Lys1690=) |
single nucleotide variant |
not provided [RCV003714416] |
Chr8:132941379 [GRCh38] Chr8:133953624 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3312C>T (p.Phe1104=) |
single nucleotide variant |
not provided [RCV003715071] |
Chr8:132898892 [GRCh38] Chr8:133911137 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.619C>T (p.Leu207=) |
single nucleotide variant |
not provided [RCV003827471] |
Chr8:132873202 [GRCh38] Chr8:133885447 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.8088C>T (p.Asn2696=) |
single nucleotide variant |
not provided [RCV003694935] |
Chr8:133133560 [GRCh38] Chr8:134145804 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6200-15C>A |
single nucleotide variant |
not provided [RCV003577035] |
Chr8:132983335 [GRCh38] Chr8:133995580 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5976-7A>G |
single nucleotide variant |
not provided [RCV003688814] |
Chr8:132971787 [GRCh38] Chr8:133984032 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.274+14G>C |
single nucleotide variant |
not provided [RCV003825771] |
Chr8:132869840 [GRCh38] Chr8:133882085 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1734T>C (p.Leu578=) |
single nucleotide variant |
not provided [RCV003827523] |
Chr8:132887106 [GRCh38] Chr8:133899351 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5250G>A (p.Gly1750=) |
single nucleotide variant |
not provided [RCV003693781] |
Chr8:132948792 [GRCh38] Chr8:133961037 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4160-13C>T |
single nucleotide variant |
not provided [RCV003829891] |
Chr8:132913034 [GRCh38] Chr8:133925279 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4932+10G>A |
single nucleotide variant |
not provided [RCV003829899] |
Chr8:132933686 [GRCh38] Chr8:133945931 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7653C>T (p.Asp2551=) |
single nucleotide variant |
not provided [RCV003828972] |
Chr8:133113502 [GRCh38] Chr8:134125746 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5402-7T>G |
single nucleotide variant |
not provided [RCV003573001] |
Chr8:132961001 [GRCh38] Chr8:133973246 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5379T>C (p.Leu1793=) |
single nucleotide variant |
not provided [RCV003660623] |
Chr8:132948921 [GRCh38] Chr8:133961166 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4002+12G>A |
single nucleotide variant |
not provided [RCV003662662] |
Chr8:132908352 [GRCh38] Chr8:133920597 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.8037C>T (p.Pro2679=) |
single nucleotide variant |
not provided [RCV003575280] |
Chr8:133133509 [GRCh38] Chr8:134145753 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.870C>G (p.Val290=) |
single nucleotide variant |
not provided [RCV003691043] |
Chr8:132882593 [GRCh38] Chr8:133894838 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6200-18C>G |
single nucleotide variant |
not provided [RCV003713105] |
Chr8:132983332 [GRCh38] Chr8:133995577 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6153T>G (p.Pro2051=) |
single nucleotide variant |
not provided [RCV003575312] |
Chr8:132972695 [GRCh38] Chr8:133984940 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5233+19G>A |
single nucleotide variant |
not provided [RCV003826790] |
Chr8:132941561 [GRCh38] Chr8:133953806 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7755-18A>G |
single nucleotide variant |
not provided [RCV003881252] |
Chr8:133116591 [GRCh38] Chr8:134128835 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3273G>A (p.Gln1091=) |
single nucleotide variant |
not provided [RCV003693811] |
Chr8:132898853 [GRCh38] Chr8:133911098 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2760_2761del (p.Cys921fs) |
deletion |
not provided [RCV003687008] |
Chr8:132888567..132888568 [GRCh38] Chr8:133900812..133900813 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.5687-17T>C |
single nucleotide variant |
not provided [RCV003660634] |
Chr8:132967777 [GRCh38] Chr8:133980022 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4528+1G>A |
single nucleotide variant |
not provided [RCV003663229] |
Chr8:132919526 [GRCh38] Chr8:133931771 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.6876+8C>T |
single nucleotide variant |
not provided [RCV003547726] |
Chr8:133019703 [GRCh38] Chr8:134031948 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7512C>T (p.Val2504=) |
single nucleotide variant |
not provided [RCV003829710] |
Chr8:133096313 [GRCh38] Chr8:134108557 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4455A>G (p.Ala1485=) |
single nucleotide variant |
not provided [RCV003694659] |
Chr8:132919452 [GRCh38] Chr8:133931697 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6055+18T>A |
single nucleotide variant |
not provided [RCV003573194] |
Chr8:132971891 [GRCh38] Chr8:133984136 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3390A>G (p.Ala1130=) |
single nucleotide variant |
not provided [RCV003693364] |
Chr8:132900296 [GRCh38] Chr8:133912541 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3848-6C>T |
single nucleotide variant |
not provided [RCV003693869] |
Chr8:132908180 [GRCh38] Chr8:133920425 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7260G>A (p.Pro2420=) |
single nucleotide variant |
not provided [RCV003738828] |
Chr8:133095064 [GRCh38] Chr8:134107308 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5919G>A (p.Leu1973=) |
single nucleotide variant |
not provided [RCV003573966] |
Chr8:132969513 [GRCh38] Chr8:133981758 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7997+16T>C |
single nucleotide variant |
not provided [RCV003715275] |
Chr8:133131962 [GRCh38] Chr8:134144206 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7467T>C (p.Arg2489=) |
single nucleotide variant |
not provided [RCV003689154] |
Chr8:133096268 [GRCh38] Chr8:134108512 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7527G>C (p.Gly2509=) |
single nucleotide variant |
not provided [RCV003827710] |
Chr8:133096328 [GRCh38] Chr8:134108572 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5007T>C (p.His1669=) |
single nucleotide variant |
not provided [RCV003712795] |
Chr8:132935830 [GRCh38] Chr8:133948075 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7965C>T (p.Ile2655=) |
single nucleotide variant |
not provided [RCV003715436] |
Chr8:133131914 [GRCh38] Chr8:134144158 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5864-19T>C |
single nucleotide variant |
not provided [RCV003575334] |
Chr8:132969439 [GRCh38] Chr8:133981684 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.8283A>G (p.Pro2761=) |
single nucleotide variant |
not provided [RCV003826221] |
Chr8:133134770 [GRCh38] Chr8:134147014 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1840A>C (p.Arg614=) |
single nucleotide variant |
not provided [RCV003738693] |
Chr8:132887212 [GRCh38] Chr8:133899457 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1107G>A (p.Gln369=) |
single nucleotide variant |
not provided [RCV003660224] |
Chr8:132886479 [GRCh38] Chr8:133898724 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1284A>G (p.Gly428=) |
single nucleotide variant |
not provided [RCV003714817] |
Chr8:132886656 [GRCh38] Chr8:133898901 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3810C>A (p.Arg1270=) |
single nucleotide variant |
not provided [RCV003689290] |
Chr8:132906863 [GRCh38] Chr8:133919108 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6055+15A>G |
single nucleotide variant |
not provided [RCV003690353] |
Chr8:132971888 [GRCh38] Chr8:133984133 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3537G>A (p.Val1179=) |
single nucleotide variant |
not provided [RCV003880792] |
Chr8:132901456 [GRCh38] Chr8:133913701 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_001045556.3(SLA):c.-319+6160G>A |
single nucleotide variant |
not provided [RCV003881590] |
Chr8:133096393 [GRCh38] Chr8:134108637 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.67+10G>T |
single nucleotide variant |
not provided [RCV003829532] |
Chr8:132867077 [GRCh38] Chr8:133879322 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5548+10C>G |
single nucleotide variant |
not provided [RCV003695609] |
Chr8:132963084 [GRCh38] Chr8:133975329 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7938G>A (p.Leu2646=) |
single nucleotide variant |
not provided [RCV003543955] |
Chr8:133131887 [GRCh38] Chr8:134144131 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5791A>G (p.Ile1931Val) |
single nucleotide variant |
not provided [RCV003544685] |
Chr8:132967898 [GRCh38] Chr8:133980143 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1380T>C (p.Phe460=) |
single nucleotide variant |
not provided [RCV003714770] |
Chr8:132886752 [GRCh38] Chr8:133898997 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2761+20G>C |
single nucleotide variant |
not provided [RCV003881535] |
Chr8:132888588 [GRCh38] Chr8:133900833 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4379-19T>C |
single nucleotide variant |
not provided [RCV003830117] |
Chr8:132919357 [GRCh38] Chr8:133931602 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7914A>G (p.Pro2638=) |
single nucleotide variant |
not provided [RCV003545417] |
Chr8:133131863 [GRCh38] Chr8:134144107 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7111C>T (p.Arg2371Ter) |
single nucleotide variant |
not provided [RCV003573392] |
Chr8:133029895 [GRCh38] Chr8:134042140 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.2907C>T (p.Asp969=) |
single nucleotide variant |
not provided [RCV003878140] |
Chr8:132893835 [GRCh38] Chr8:133906080 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3001+14C>A |
single nucleotide variant |
not provided [RCV003827871] |
Chr8:132893943 [GRCh38] Chr8:133906188 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6109G>T (p.Glu2037Ter) |
single nucleotide variant |
not provided [RCV003578180] |
Chr8:132972651 [GRCh38] Chr8:133984896 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.5468-4C>T |
single nucleotide variant |
not provided [RCV003687223] |
Chr8:132962990 [GRCh38] Chr8:133975235 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.399G>A (p.Val133=) |
single nucleotide variant |
not provided [RCV003544740] |
Chr8:132871472 [GRCh38] Chr8:133883717 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3369C>A (p.Gly1123=) |
single nucleotide variant |
not provided [RCV003688732] |
Chr8:132900275 [GRCh38] Chr8:133912520 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3847+1G>A |
single nucleotide variant |
not provided [RCV003659770] |
Chr8:132906901 [GRCh38] Chr8:133919146 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.7971G>A (p.Gln2657=) |
single nucleotide variant |
not provided [RCV003544253] |
Chr8:133131920 [GRCh38] Chr8:134144164 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6398-15C>T |
single nucleotide variant |
not provided [RCV003660661] |
Chr8:133013585 [GRCh38] Chr8:134025830 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.275-15T>C |
single nucleotide variant |
not provided [RCV003545892] |
Chr8:132871333 [GRCh38] Chr8:133883578 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.746-6G>T |
single nucleotide variant |
not provided [RCV003663452] |
Chr8:132882463 [GRCh38] Chr8:133894708 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.745+11C>A |
single nucleotide variant |
not provided [RCV003829270] |
Chr8:132881980 [GRCh38] Chr8:133894225 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6128G>A (p.Trp2043Ter) |
single nucleotide variant |
not provided [RCV003713962] |
Chr8:132972670 [GRCh38] Chr8:133984915 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.4379-11T>A |
single nucleotide variant |
not provided [RCV003573914] |
Chr8:132919365 [GRCh38] Chr8:133931610 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7672del (p.Ala2558fs) |
deletion |
not provided [RCV003714730] |
Chr8:133113520 [GRCh38] Chr8:134125764 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.3252G>T (p.Gly1084=) |
single nucleotide variant |
not provided [RCV003662953] |
Chr8:132898832 [GRCh38] Chr8:133911077 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7813C>T (p.Arg2605Ter) |
single nucleotide variant |
not provided [RCV003825058] |
Chr8:133116667 [GRCh38] Chr8:134128911 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.3433+15C>A |
single nucleotide variant |
not provided [RCV003686464] |
Chr8:132900354 [GRCh38] Chr8:133912599 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7770C>T (p.Ile2590=) |
single nucleotide variant |
not provided [RCV003877974] |
Chr8:133116624 [GRCh38] Chr8:134128868 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6877-17T>A |
single nucleotide variant |
not provided [RCV003716056] |
Chr8:133021974 [GRCh38] Chr8:134034219 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3218-15CT[3] |
microsatellite |
not provided [RCV003825008] |
Chr8:132898783..132898784 [GRCh38] Chr8:133911028..133911029 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2177-19G>T |
single nucleotide variant |
not provided [RCV003831111] |
Chr8:132887965 [GRCh38] Chr8:133900210 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7974C>T (p.Tyr2658=) |
single nucleotide variant |
not provided [RCV003827368] |
Chr8:133131923 [GRCh38] Chr8:134144167 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2778G>A (p.Glu926=) |
single nucleotide variant |
not provided [RCV003687925] |
Chr8:132893706 [GRCh38] Chr8:133905951 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4933-18G>A |
single nucleotide variant |
not provided [RCV003877283] |
Chr8:132935738 [GRCh38] Chr8:133947983 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.7036+18G>T |
single nucleotide variant |
not provided [RCV003714843] |
Chr8:133022168 [GRCh38] Chr8:134034413 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1425A>G (p.Lys475=) |
single nucleotide variant |
not provided [RCV003825743] |
Chr8:132886797 [GRCh38] Chr8:133899042 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5590del (p.Val1864fs) |
deletion |
not provided [RCV003712947] |
Chr8:132966600 [GRCh38] Chr8:133978845 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.1524C>T (p.Ser508=) |
single nucleotide variant |
not provided [RCV003572707] |
Chr8:132886896 [GRCh38] Chr8:133899141 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1212T>C (p.Phe404=) |
single nucleotide variant |
not provided [RCV003662501] |
Chr8:132886584 [GRCh38] Chr8:133898829 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6783-8A>T |
single nucleotide variant |
not provided [RCV003662430] |
Chr8:133019594 [GRCh38] Chr8:134031839 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3120del (p.Gln1041fs) |
deletion |
not provided [RCV003578354] |
Chr8:132897767 [GRCh38] Chr8:133910012 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.6517C>T (p.Arg2173Ter) |
single nucleotide variant |
not provided [RCV003830969] |
Chr8:133013719 [GRCh38] Chr8:134025964 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.3847+16G>A |
single nucleotide variant |
not provided [RCV003825920] |
Chr8:132906916 [GRCh38] Chr8:133919161 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5468-14T>C |
single nucleotide variant |
not provided [RCV003575541] |
Chr8:132962980 [GRCh38] Chr8:133975225 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4419C>T (p.Cys1473=) |
single nucleotide variant |
not provided [RCV003694048] |
Chr8:132919416 [GRCh38] Chr8:133931661 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4002+18C>T |
single nucleotide variant |
not provided [RCV003692713] |
Chr8:132908358 [GRCh38] Chr8:133920603 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7164G>A (p.Gly2388=) |
single nucleotide variant |
not provided [RCV003876120] |
Chr8:133029948 [GRCh38] Chr8:134042193 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6200-10del |
deletion |
not provided [RCV003687348] |
Chr8:132983336 [GRCh38] Chr8:133995581 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.3390A>C (p.Ala1130=) |
single nucleotide variant |
not provided [RCV003661905] |
Chr8:132900296 [GRCh38] Chr8:133912541 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2289C>T (p.Cys763=) |
single nucleotide variant |
not provided [RCV003661866] |
Chr8:132888096 [GRCh38] Chr8:133900341 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4159+1G>T |
single nucleotide variant |
not provided [RCV003689491] |
Chr8:132911534 [GRCh38] Chr8:133923779 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.2505G>A (p.Val835=) |
single nucleotide variant |
not provided [RCV003716247] |
Chr8:132888312 [GRCh38] Chr8:133900557 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5394C>T (p.Phe1798=) |
single nucleotide variant |
not provided [RCV003829963] |
Chr8:132948936 [GRCh38] Chr8:133961181 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3848-12G>C |
single nucleotide variant |
not provided [RCV003696114] |
Chr8:132908174 [GRCh38] Chr8:133920419 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6645C>A (p.Ala2215=) |
single nucleotide variant |
not provided [RCV003660044] |
Chr8:133017860 [GRCh38] Chr8:134030105 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1623T>C (p.Asp541=) |
single nucleotide variant |
not provided [RCV003690164] |
Chr8:132886995 [GRCh38] Chr8:133899240 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5670C>T (p.Asn1890=) |
single nucleotide variant |
not provided [RCV003829097] |
Chr8:132966681 [GRCh38] Chr8:133978926 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.889+2T>G |
single nucleotide variant |
not provided [RCV003576804] |
Chr8:132882614 [GRCh38] Chr8:133894859 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.6854del (p.Asn2285fs) |
deletion |
not provided [RCV003695893] |
Chr8:133019672 [GRCh38] Chr8:134031917 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.2535C>G (p.Val845=) |
single nucleotide variant |
not provided [RCV003696189] |
Chr8:132888342 [GRCh38] Chr8:133900587 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4529-18T>C |
single nucleotide variant |
not provided [RCV003877483] |
Chr8:132923320 [GRCh38] Chr8:133935565 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.2176+12G>A |
single nucleotide variant |
not provided [RCV003877529] |
Chr8:132887560 [GRCh38] Chr8:133899805 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7335A>G (p.Ser2445=) |
single nucleotide variant |
not provided [RCV003662664] |
Chr8:133095139 [GRCh38] Chr8:134107383 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5233+8T>G |
single nucleotide variant |
not provided [RCV003693663] |
Chr8:132941550 [GRCh38] Chr8:133953795 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3036G>A (p.Pro1012=) |
single nucleotide variant |
not provided [RCV003739727] |
Chr8:132897683 [GRCh38] Chr8:133909928 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6055+18T>C |
single nucleotide variant |
not provided [RCV003693072] |
Chr8:132971891 [GRCh38] Chr8:133984136 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6397+16A>G |
single nucleotide variant |
not provided [RCV003687481] |
Chr8:133012051 [GRCh38] Chr8:134024296 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3001+19A>G |
single nucleotide variant |
not provided [RCV003877519] |
Chr8:132893948 [GRCh38] Chr8:133906193 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.4378+7C>T |
single nucleotide variant |
not provided [RCV003661942] |
Chr8:132913272 [GRCh38] Chr8:133925517 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5994_5995inv (p.Arg1999Trp) |
inversion |
not provided [RCV003716328] |
Chr8:132971812..132971813 [GRCh38] Chr8:133984057..133984058 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4932+7T>C |
single nucleotide variant |
not provided [RCV003879630] |
Chr8:132933683 [GRCh38] Chr8:133945928 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1731C>T (p.Phe577=) |
single nucleotide variant |
not provided [RCV003831305] |
Chr8:132887103 [GRCh38] Chr8:133899348 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4159+8T>C |
single nucleotide variant |
not provided [RCV003881065] |
Chr8:132911541 [GRCh38] Chr8:133923786 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.8057del (p.Pro2686fs) |
deletion |
not provided [RCV003691892] |
Chr8:133133528 [GRCh38] Chr8:134145772 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.3372C>A (p.Thr1124=) |
single nucleotide variant |
not provided [RCV003712817] |
Chr8:132900278 [GRCh38] Chr8:133912523 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1356G>T (p.Gly452=) |
single nucleotide variant |
not provided [RCV003878558] |
Chr8:132886728 [GRCh38] Chr8:133898973 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5402-16A>T |
single nucleotide variant |
not provided [RCV003879708] |
Chr8:132960992 [GRCh38] Chr8:133973237 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.4002+1G>A |
single nucleotide variant |
not provided [RCV003663313] |
Chr8:132908341 [GRCh38] Chr8:133920586 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.5106T>A (p.Ser1702=) |
single nucleotide variant |
not provided [RCV003716443] |
Chr8:132941415 [GRCh38] Chr8:133953660 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6876+20C>A |
single nucleotide variant |
not provided [RCV003661403] |
Chr8:133019715 [GRCh38] Chr8:134031960 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.274+16G>A |
single nucleotide variant |
not provided [RCV003662132] |
Chr8:132869842 [GRCh38] Chr8:133882087 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6705C>T (p.Ala2235=) |
single nucleotide variant |
not provided [RCV003830094] |
Chr8:133017920 [GRCh38] Chr8:134030165 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2472G>A (p.Leu824=) |
single nucleotide variant |
not provided [RCV003695771] |
Chr8:132888279 [GRCh38] Chr8:133900524 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4461C>T (p.Ser1487=) |
single nucleotide variant |
not provided [RCV003826977] |
Chr8:132919458 [GRCh38] Chr8:133931703 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.177-19G>A |
single nucleotide variant |
not provided [RCV003712979] |
Chr8:132869710 [GRCh38] Chr8:133881955 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.915G>A (p.Arg305=) |
single nucleotide variant |
not provided [RCV003687666] |
Chr8:132882839 [GRCh38] Chr8:133895084 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3930C>A (p.Tyr1310Ter) |
single nucleotide variant |
not provided [RCV003687668] |
Chr8:132908268 [GRCh38] Chr8:133920513 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.1119C>T (p.Ser373=) |
single nucleotide variant |
not provided [RCV003661517] |
Chr8:132886491 [GRCh38] Chr8:133898736 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1011del (p.Trp337fs) |
deletion |
not provided [RCV003689846] |
Chr8:132882934 [GRCh38] Chr8:133895179 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.1233G>C (p.Thr411=) |
single nucleotide variant |
not provided [RCV003576623] |
Chr8:132886605 [GRCh38] Chr8:133898850 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3634+16C>G |
single nucleotide variant |
not provided [RCV003828745] |
Chr8:132901569 [GRCh38] Chr8:133913814 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6397+8del |
deletion |
not provided [RCV003694691] |
Chr8:133012040 [GRCh38] Chr8:134024285 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.4302C>T (p.Pro1434=) |
single nucleotide variant |
not provided [RCV003696043] |
Chr8:132913189 [GRCh38] Chr8:133925434 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1899C>T (p.Ser633=) |
single nucleotide variant |
not provided [RCV003831118] |
Chr8:132887271 [GRCh38] Chr8:133899516 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.8189-11C>T |
single nucleotide variant |
not provided [RCV003831236] |
Chr8:133134665 [GRCh38] Chr8:134146909 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2761+10C>T |
single nucleotide variant |
not provided [RCV003690752] |
Chr8:132888578 [GRCh38] Chr8:133900823 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.3648G>A (p.Pro1216=) |
single nucleotide variant |
not provided [RCV003575200] |
Chr8:132906701 [GRCh38] Chr8:133918946 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4857C>T (p.Ser1619=) |
single nucleotide variant |
not provided [RCV003876336] |
Chr8:132933601 [GRCh38] Chr8:133945846 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.479-14G>A |
single nucleotide variant |
not provided [RCV003882399] |
Chr8:132873048 [GRCh38] Chr8:133885293 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4002+11G>C |
single nucleotide variant |
not provided [RCV003690778] |
Chr8:132908351 [GRCh38] Chr8:133920596 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3315C>T (p.Val1105=) |
single nucleotide variant |
not provided [RCV003825791] |
Chr8:132898895 [GRCh38] Chr8:133911140 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5467+8C>T |
single nucleotide variant |
not provided [RCV003714401] |
Chr8:132961081 [GRCh38] Chr8:133973326 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3139+20T>C |
single nucleotide variant |
not provided [RCV003713268] |
Chr8:132897806 [GRCh38] Chr8:133910051 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7161C>T (p.Gly2387=) |
single nucleotide variant |
not provided [RCV003545887] |
Chr8:133029945 [GRCh38] Chr8:134042190 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3218-11C>G |
single nucleotide variant |
not provided [RCV003880198] |
Chr8:132898787 [GRCh38] Chr8:133911032 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.5042-12C>T |
single nucleotide variant |
not provided [RCV003687063] |
Chr8:132941339 [GRCh38] Chr8:133953584 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7668C>A (p.Val2556=) |
single nucleotide variant |
not provided [RCV003575529] |
Chr8:133113517 [GRCh38] Chr8:134125761 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2177-1_2182del |
deletion |
not provided [RCV003692281] |
Chr8:132887978..132887984 [GRCh38] Chr8:133900223..133900229 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_001045556.3(SLA):c.-319+7329del |
deletion |
not provided [RCV003690602] |
Chr8:133095224 [GRCh38] Chr8:134107468 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4020C>G (p.Thr1340=) |
single nucleotide variant |
not provided [RCV003826540] |
Chr8:132911394 [GRCh38] Chr8:133923639 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3307C>T (p.Leu1103=) |
single nucleotide variant |
not provided [RCV003713527] |
Chr8:132898887 [GRCh38] Chr8:133911132 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1482A>T (p.Thr494=) |
single nucleotide variant |
not provided [RCV003544728] |
Chr8:132886854 [GRCh38] Chr8:133899099 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3071C>A (p.Ser1024Ter) |
single nucleotide variant |
not provided [RCV003574488] |
Chr8:132897718 [GRCh38] Chr8:133909963 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.4653G>A (p.Leu1551=) |
single nucleotide variant |
not provided [RCV003715260] |
Chr8:132923462 [GRCh38] Chr8:133935707 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5686+1del |
deletion |
not provided [RCV003690009] |
Chr8:132966698 [GRCh38] Chr8:133978943 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.4677T>G (p.Pro1559=) |
single nucleotide variant |
not provided [RCV003879736] |
Chr8:132923486 [GRCh38] Chr8:133935731 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5139A>C (p.Ser1713=) |
single nucleotide variant |
not provided [RCV003690363] |
Chr8:132941448 [GRCh38] Chr8:133953693 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7862+16G>A |
single nucleotide variant |
not provided [RCV003828570] |
Chr8:133116732 [GRCh38] Chr8:134128976 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4800G>T (p.Val1600=) |
single nucleotide variant |
not provided [RCV003713269] |
Chr8:132929176 [GRCh38] Chr8:133941421 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4932+19G>A |
single nucleotide variant |
not provided [RCV003881600] |
Chr8:132933695 [GRCh38] Chr8:133945940 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.1675del (p.Gln559fs) |
deletion |
not provided [RCV003692341] |
Chr8:132887047 [GRCh38] Chr8:133899292 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.1164G>C (p.Leu388=) |
single nucleotide variant |
not provided [RCV003692709] |
Chr8:132886536 [GRCh38] Chr8:133898781 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.890-11A>C |
single nucleotide variant |
not provided [RCV003693156] |
Chr8:132882803 [GRCh38] Chr8:133895048 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5679C>T (p.Cys1893=) |
single nucleotide variant |
not provided [RCV003825719] |
Chr8:132966690 [GRCh38] Chr8:133978935 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1076-10T>C |
single nucleotide variant |
not provided [RCV003881026] |
Chr8:132886438 [GRCh38] Chr8:133898683 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5826C>T (p.Ile1942=) |
single nucleotide variant |
not provided [RCV003546337] |
Chr8:132967933 [GRCh38] Chr8:133980178 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6639C>T (p.Ser2213=) |
single nucleotide variant |
not provided [RCV003687390] |
Chr8:133017854 [GRCh38] Chr8:134030099 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.684C>T (p.Phe228=) |
single nucleotide variant |
not provided [RCV003574221] |
Chr8:132881908 [GRCh38] Chr8:133894153 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2787G>A (p.Lys929=) |
single nucleotide variant |
not provided [RCV003827273] |
Chr8:132893715 [GRCh38] Chr8:133905960 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6951C>T (p.Ile2317=) |
single nucleotide variant |
not provided [RCV003880318] |
Chr8:133022065 [GRCh38] Chr8:134034310 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6562+18C>T |
single nucleotide variant |
not provided [RCV003660452] |
Chr8:133013782 [GRCh38] Chr8:134026027 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6603G>A (p.Val2201=) |
single nucleotide variant |
not provided [RCV003660337] |
Chr8:133017818 [GRCh38] Chr8:134030063 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3981C>G (p.Ala1327=) |
single nucleotide variant |
not provided [RCV003692022] |
Chr8:132908319 [GRCh38] Chr8:133920564 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6069A>G (p.Thr2023=) |
single nucleotide variant |
not provided [RCV003881746] |
Chr8:132972611 [GRCh38] Chr8:133984856 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1143C>T (p.Gly381=) |
single nucleotide variant |
not provided [RCV003687533] |
Chr8:132886515 [GRCh38] Chr8:133898760 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6876+8C>A |
single nucleotide variant |
not provided [RCV003661903] |
Chr8:133019703 [GRCh38] Chr8:134031948 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.246C>G (p.Gly82=) |
single nucleotide variant |
not provided [RCV003716214] |
Chr8:132869798 [GRCh38] Chr8:133882043 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5041+1G>A |
single nucleotide variant |
not provided [RCV003716511] |
Chr8:132935865 [GRCh38] Chr8:133948110 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.6996T>A (p.Thr2332=) |
single nucleotide variant |
not provided [RCV003691260] |
Chr8:133022110 [GRCh38] Chr8:134034355 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4700-2A>T |
single nucleotide variant |
not provided [RCV003714777] |
Chr8:132929074 [GRCh38] Chr8:133941319 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.4566A>G (p.Gln1522=) |
single nucleotide variant |
not provided [RCV003824420] |
Chr8:132923375 [GRCh38] Chr8:133935620 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5976-12T>G |
single nucleotide variant |
not provided [RCV003881307] |
Chr8:132971782 [GRCh38] Chr8:133984027 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7281G>A (p.Glu2427=) |
single nucleotide variant |
not provided [RCV003715450] |
Chr8:133095085 [GRCh38] Chr8:134107329 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6876+19G>T |
single nucleotide variant |
not provided [RCV003691333] |
Chr8:133019714 [GRCh38] Chr8:134031959 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4932+18C>T |
single nucleotide variant |
not provided [RCV003880552] |
Chr8:132933694 [GRCh38] Chr8:133945939 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4941T>C (p.Asp1647=) |
single nucleotide variant |
not provided [RCV003689346] |
Chr8:132935764 [GRCh38] Chr8:133948009 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7014T>C (p.Gly2338=) |
single nucleotide variant |
not provided [RCV003689448] |
Chr8:133022128 [GRCh38] Chr8:134034373 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3450T>C (p.Asn1150=) |
single nucleotide variant |
not provided [RCV003827432] |
Chr8:132901369 [GRCh38] Chr8:133913614 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.8112C>T (p.Leu2704=) |
single nucleotide variant |
not provided [RCV003544027] |
Chr8:133133584 [GRCh38] Chr8:134145828 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.890-16del |
deletion |
not provided [RCV003661103] |
Chr8:132882798 [GRCh38] Chr8:133895043 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6C>T (p.Ala2=) |
single nucleotide variant |
not provided [RCV003661757] |
Chr8:132867006 [GRCh38] Chr8:133879251 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4817-18G>A |
single nucleotide variant |
not provided [RCV003877289] |
Chr8:132933543 [GRCh38] Chr8:133945788 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5975+12G>T |
single nucleotide variant |
not provided [RCV003827402] |
Chr8:132969581 [GRCh38] Chr8:133981826 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3330+11G>A |
single nucleotide variant |
not provided [RCV003877465] |
Chr8:132898921 [GRCh38] Chr8:133911166 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.7239+18T>C |
single nucleotide variant |
not provided [RCV003879946] |
Chr8:133030041 [GRCh38] Chr8:134042286 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3099G>C (p.Ala1033=) |
single nucleotide variant |
not provided [RCV003693384] |
Chr8:132897746 [GRCh38] Chr8:133909991 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7332_7333del (p.Met2444fs) |
deletion |
not provided [RCV003826357] |
Chr8:133095135..133095136 [GRCh38] Chr8:134107379..134107380 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.746-5C>A |
single nucleotide variant |
not provided [RCV003573388] |
Chr8:132882464 [GRCh38] Chr8:133894709 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1048C>A (p.Arg350=) |
single nucleotide variant |
not provided [RCV003663482] |
Chr8:132882972 [GRCh38] Chr8:133895217 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3139+10G>A |
single nucleotide variant |
not provided [RCV003690528] |
Chr8:132897796 [GRCh38] Chr8:133910041 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6262+19T>C |
single nucleotide variant |
not provided [RCV003712846] |
Chr8:132983431 [GRCh38] Chr8:133995676 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5992C>A (p.Arg1998=) |
single nucleotide variant |
not provided [RCV003688786] |
Chr8:132971810 [GRCh38] Chr8:133984055 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5307T>C (p.Ser1769=) |
single nucleotide variant |
not provided [RCV003686765] |
Chr8:132948849 [GRCh38] Chr8:133961094 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5975+8A>G |
single nucleotide variant |
not provided [RCV003827870] |
Chr8:132969577 [GRCh38] Chr8:133981822 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7194G>A (p.Thr2398=) |
single nucleotide variant |
not provided [RCV003827939] |
Chr8:133029978 [GRCh38] Chr8:134042223 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3420C>T (p.Ser1140=) |
single nucleotide variant |
not provided [RCV003828377] |
Chr8:132900326 [GRCh38] Chr8:133912571 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4379-5dup |
duplication |
not provided [RCV003877478] |
Chr8:132919364..132919365 [GRCh38] Chr8:133931609..133931610 [GRCh37] Chr8:8q24.22 |
benign |
NM_001045556.3(SLA):c.-319+6366T>C |
single nucleotide variant |
not provided [RCV003661930] |
Chr8:133096187 [GRCh38] Chr8:134108431 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2541A>G (p.Leu847=) |
single nucleotide variant |
not provided [RCV003580496] |
Chr8:132888348 [GRCh38] Chr8:133900593 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2769C>T (p.Gly923=) |
single nucleotide variant |
not provided [RCV003699678] |
Chr8:132893697 [GRCh38] Chr8:133905942 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2988G>A (p.Leu996=) |
single nucleotide variant |
not provided [RCV003832865] |
Chr8:132893916 [GRCh38] Chr8:133906161 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.942C>T (p.Pro314=) |
single nucleotide variant |
not provided [RCV003834803] |
Chr8:132882866 [GRCh38] Chr8:133895111 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5184C>T (p.Cys1728=) |
single nucleotide variant |
not provided [RCV003665316] |
Chr8:132941493 [GRCh38] Chr8:133953738 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6055+17C>T |
single nucleotide variant |
not provided [RCV003850308] |
Chr8:132971890 [GRCh38] Chr8:133984135 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6876+14C>T |
single nucleotide variant |
not provided [RCV003716874] |
Chr8:133019709 [GRCh38] Chr8:134031954 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6441C>G (p.Thr2147=) |
single nucleotide variant |
not provided [RCV003717008] |
Chr8:133013643 [GRCh38] Chr8:134025888 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3903G>A (p.Pro1301=) |
single nucleotide variant |
not provided [RCV003697924] |
Chr8:132908241 [GRCh38] Chr8:133920486 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2769C>G (p.Gly923=) |
single nucleotide variant |
not provided [RCV003852558] |
Chr8:132893697 [GRCh38] Chr8:133905942 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7707C>A (p.Ser2569=) |
single nucleotide variant |
not provided [RCV003850599] |
Chr8:133113556 [GRCh38] Chr8:134125800 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.8205G>A (p.Gly2735=) |
single nucleotide variant |
not provided [RCV003549219] |
Chr8:133134692 [GRCh38] Chr8:134146936 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3766G>A (p.Val1256Met) |
single nucleotide variant |
not provided [RCV003550246] |
Chr8:132906819 [GRCh38] Chr8:133919064 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.1301_1302del (p.Ser434fs) |
deletion |
not provided [RCV003718034] |
Chr8:132886672..132886673 [GRCh38] Chr8:133898917..133898918 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.5468-5C>T |
single nucleotide variant |
not provided [RCV003832011] |
Chr8:132962989 [GRCh38] Chr8:133975234 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.8095G>T (p.Glu2699Ter) |
single nucleotide variant |
not provided [RCV003580907] |
Chr8:133133567 [GRCh38] Chr8:134145811 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.4239C>T (p.Asp1413=) |
single nucleotide variant |
not provided [RCV003659179] |
Chr8:132913126 [GRCh38] Chr8:133925371 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7050G>A (p.Val2350=) |
single nucleotide variant |
not provided [RCV003717237] |
Chr8:133029834 [GRCh38] Chr8:134042079 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2835T>A (p.Ala945=) |
single nucleotide variant |
not provided [RCV003850664] |
Chr8:132893763 [GRCh38] Chr8:133906008 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5695C>T (p.Gln1899Ter) |
single nucleotide variant |
not provided [RCV003832344] |
Chr8:132967802 [GRCh38] Chr8:133980047 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.5976-16T>C |
single nucleotide variant |
not provided [RCV003834240] |
Chr8:132971778 [GRCh38] Chr8:133984023 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6563-9del |
deletion |
not provided [RCV003663990] |
Chr8:133017767 [GRCh38] Chr8:134030012 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1410C>T (p.Asn470=) |
single nucleotide variant |
not provided [RCV003850971] |
Chr8:132886782 [GRCh38] Chr8:133899027 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4053T>G (p.Ser1351=) |
single nucleotide variant |
not provided [RCV003580217] |
Chr8:132911427 [GRCh38] Chr8:133923672 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2136C>T (p.Ala712=) |
single nucleotide variant |
not provided [RCV003851025] |
Chr8:132887508 [GRCh38] Chr8:133899753 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_001045556.3(SLA):c.-319+7518G>C |
single nucleotide variant |
not provided [RCV003849918] |
Chr8:133095035 [GRCh38] Chr8:134107279 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2637C>T (p.Tyr879=) |
single nucleotide variant |
not provided [RCV003664033] |
Chr8:132888444 [GRCh38] Chr8:133900689 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3433+17C>G |
single nucleotide variant |
not provided [RCV003850901] |
Chr8:132900356 [GRCh38] Chr8:133912601 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2762-4del |
deletion |
not provided [RCV003834489] |
Chr8:132893683 [GRCh38] Chr8:133905928 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.2761+11G>A |
single nucleotide variant |
not provided [RCV003834510] |
Chr8:132888579 [GRCh38] Chr8:133900824 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4539C>T (p.Asp1513=) |
single nucleotide variant |
not provided [RCV003697507] |
Chr8:132923348 [GRCh38] Chr8:133935593 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2800C>T (p.Gln934Ter) |
single nucleotide variant |
not provided [RCV003665120] |
Chr8:132893728 [GRCh38] Chr8:133905973 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.6957C>A (p.Gly2319=) |
single nucleotide variant |
not provided [RCV003717699] |
Chr8:133022071 [GRCh38] Chr8:134034316 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4817-19C>T |
single nucleotide variant |
not provided [RCV003810978] |
Chr8:132933542 [GRCh38] Chr8:133945787 [GRCh37] Chr8:8q24.22 |
benign |
NM_003235.5(TG):c.3615G>A (p.Gly1205=) |
single nucleotide variant |
not provided [RCV003811071] |
Chr8:132901534 [GRCh38] Chr8:133913779 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5251T>C (p.Leu1751=) |
single nucleotide variant |
not provided [RCV003580369] |
Chr8:132948793 [GRCh38] Chr8:133961038 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1200A>G (p.Arg400=) |
single nucleotide variant |
not provided [RCV003664176] |
Chr8:132886572 [GRCh38] Chr8:133898817 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6056-17T>G |
single nucleotide variant |
not provided [RCV003549694] |
Chr8:132972581 [GRCh38] Chr8:133984826 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3889C>T (p.Gln1297Ter) |
single nucleotide variant |
not provided [RCV003664215] |
Chr8:132908227 [GRCh38] Chr8:133920472 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.7542C>T (p.Asp2514=) |
single nucleotide variant |
not provided [RCV003580070] |
Chr8:133096343 [GRCh38] Chr8:134108587 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3677del (p.Gly1226fs) |
deletion |
not provided [RCV003852359] |
Chr8:132906729 [GRCh38] Chr8:133918974 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.2694C>T (p.Cys898=) |
single nucleotide variant |
not provided [RCV003852476] |
Chr8:132888501 [GRCh38] Chr8:133900746 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6056-17T>A |
single nucleotide variant |
not provided [RCV003665339] |
Chr8:132972581 [GRCh38] Chr8:133984826 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5687-13C>G |
single nucleotide variant |
not provided [RCV003810811] |
Chr8:132967781 [GRCh38] Chr8:133980026 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3414C>G (p.Gly1138=) |
single nucleotide variant |
not provided [RCV003832056] |
Chr8:132900320 [GRCh38] Chr8:133912565 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.345C>A (p.Ser115=) |
single nucleotide variant |
not provided [RCV003550170] |
Chr8:132871418 [GRCh38] Chr8:133883663 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3848-7C>G |
single nucleotide variant |
not provided [RCV003852536] |
Chr8:132908179 [GRCh38] Chr8:133920424 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6055+1G>A |
single nucleotide variant |
not provided [RCV003663672] |
Chr8:132971874 [GRCh38] Chr8:133984119 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.3434-7G>T |
single nucleotide variant |
not provided [RCV003697950] |
Chr8:132901346 [GRCh38] Chr8:133913591 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.282A>G (p.Ser94=) |
single nucleotide variant |
not provided [RCV003663677] |
Chr8:132871355 [GRCh38] Chr8:133883600 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.78G>C (p.Val26=) |
single nucleotide variant |
not provided [RCV003659096] |
Chr8:132868125 [GRCh38] Chr8:133880370 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2535C>T (p.Val845=) |
single nucleotide variant |
not provided [RCV003698051] |
Chr8:132888342 [GRCh38] Chr8:133900587 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.354T>C (p.Pro118=) |
single nucleotide variant |
not provided [RCV003580852] |
Chr8:132871427 [GRCh38] Chr8:133883672 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2700T>C (p.Cys900=) |
single nucleotide variant |
not provided [RCV003665670] |
Chr8:132888507 [GRCh38] Chr8:133900752 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3139+16C>T |
single nucleotide variant |
not provided [RCV003665410] |
Chr8:132897802 [GRCh38] Chr8:133910047 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5233+21del |
deletion |
not provided [RCV003811584] |
Chr8:132941562 [GRCh38] Chr8:133953807 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2361A>G (p.Arg787=) |
single nucleotide variant |
not provided [RCV003851155] |
Chr8:132888168 [GRCh38] Chr8:133900413 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1017G>C (p.Val339=) |
single nucleotide variant |
not provided [RCV003659654] |
Chr8:132882941 [GRCh38] Chr8:133895186 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6597T>A (p.Pro2199=) |
single nucleotide variant |
not provided [RCV003832675] |
Chr8:133017812 [GRCh38] Chr8:134030057 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.396T>C (p.Asp132=) |
single nucleotide variant |
not provided [RCV003548352] |
Chr8:132871469 [GRCh38] Chr8:133883714 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2871C>T (p.Phe957=) |
single nucleotide variant |
not provided [RCV003717162] |
Chr8:132893799 [GRCh38] Chr8:133906044 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3783A>G (p.Pro1261=) |
single nucleotide variant |
not provided [RCV003580451] |
Chr8:132906836 [GRCh38] Chr8:133919081 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2176+17T>C |
single nucleotide variant |
not provided [RCV003698006] |
Chr8:132887565 [GRCh38] Chr8:133899810 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6730C>T (p.Gln2244Ter) |
single nucleotide variant |
not provided [RCV003665256] |
Chr8:133017945 [GRCh38] Chr8:134030190 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.3042C>T (p.Asp1014=) |
single nucleotide variant |
not provided [RCV003549909] |
Chr8:132897689 [GRCh38] Chr8:133909934 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6263-18C>A |
single nucleotide variant |
not provided [RCV003580481] |
Chr8:133011883 [GRCh38] Chr8:134024128 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5672dup (p.Trp1892fs) |
duplication |
not provided [RCV003718095] |
Chr8:132966682..132966683 [GRCh38] Chr8:133978927..133978928 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.3711C>A (p.Pro1237=) |
single nucleotide variant |
not provided [RCV003832284] |
Chr8:132906764 [GRCh38] Chr8:133919009 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.890-8del |
deletion |
not provided [RCV003664804] |
Chr8:132882804 [GRCh38] Chr8:133895049 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4932+19G>C |
single nucleotide variant |
not provided [RCV003697236] |
Chr8:132933695 [GRCh38] Chr8:133945940 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3217+19G>C |
single nucleotide variant |
not provided [RCV003663853] |
Chr8:132898265 [GRCh38] Chr8:133910510 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1596A>G (p.Thr532=) |
single nucleotide variant |
not provided [RCV003697460] |
Chr8:132886968 [GRCh38] Chr8:133899213 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3111G>A (p.Trp1037Ter) |
single nucleotide variant |
not provided [RCV003580301] |
Chr8:132897758 [GRCh38] Chr8:133910003 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.591C>T (p.Val197=) |
single nucleotide variant |
not provided [RCV003699651] |
Chr8:132873174 [GRCh38] Chr8:133885419 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7710G>T (p.Thr2570=) |
single nucleotide variant |
not provided [RCV003548739] |
Chr8:133113559 [GRCh38] Chr8:134125803 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1075+16G>A |
single nucleotide variant |
not provided [RCV003834795] |
Chr8:132883015 [GRCh38] Chr8:133895260 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_001045556.3(SLA):c.-319+6166C>A |
single nucleotide variant |
not provided [RCV003580476] |
Chr8:133096387 [GRCh38] Chr8:134108631 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7863-20C>T |
single nucleotide variant |
not provided [RCV003664229] |
Chr8:133131792 [GRCh38] Chr8:134144036 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.939C>T (p.His313=) |
single nucleotide variant |
not provided [RCV003811178] |
Chr8:132882863 [GRCh38] Chr8:133895108 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3063T>G (p.Leu1021=) |
single nucleotide variant |
not provided [RCV003580500] |
Chr8:132897710 [GRCh38] Chr8:133909955 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.73C>T (p.Gln25Ter) |
single nucleotide variant |
not provided [RCV003716805] |
Chr8:132868120 [GRCh38] Chr8:133880365 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.5549-15del |
deletion |
not provided [RCV003698679] |
Chr8:132966543 [GRCh38] Chr8:133978788 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.762G>A (p.Leu254=) |
single nucleotide variant |
not provided [RCV003834930] |
Chr8:132882485 [GRCh38] Chr8:133894730 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7594C>A (p.Arg2532=) |
single nucleotide variant |
not provided [RCV003659702] |
Chr8:133113443 [GRCh38] Chr8:134125687 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.429A>G (p.Ala143=) |
single nucleotide variant |
not provided [RCV003697235] |
Chr8:132871502 [GRCh38] Chr8:133883747 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1946C>G (p.Ser649Ter) |
single nucleotide variant |
not provided [RCV003659250] |
Chr8:132887318 [GRCh38] Chr8:133899563 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.7905C>A (p.Pro2635=) |
single nucleotide variant |
not provided [RCV003851802] |
Chr8:133131854 [GRCh38] Chr8:134144098 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5745G>A (p.Leu1915=) |
single nucleotide variant |
not provided [RCV003832901] |
Chr8:132967852 [GRCh38] Chr8:133980097 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4002+8C>T |
single nucleotide variant |
not provided [RCV003850372] |
Chr8:132908348 [GRCh38] Chr8:133920593 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.7893C>T (p.Ala2631=) |
single nucleotide variant |
not provided [RCV003850991] |
Chr8:133131842 [GRCh38] Chr8:134144086 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.760C>T (p.Leu254=) |
single nucleotide variant |
not provided [RCV003699466] |
Chr8:132882483 [GRCh38] Chr8:133894728 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.1482A>G (p.Thr494=) |
single nucleotide variant |
not provided [RCV003835166] |
Chr8:132886854 [GRCh38] Chr8:133899099 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6114_6115insGC (p.Asn2039fs) |
insertion |
not provided [RCV003550273] |
Chr8:132972656..132972657 [GRCh38] Chr8:133984901..133984902 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.4377C>A (p.Cys1459Ter) |
single nucleotide variant |
not provided [RCV003810998] |
Chr8:132913264 [GRCh38] Chr8:133925509 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.2223G>C (p.Thr741=) |
single nucleotide variant |
not provided [RCV003811153] |
Chr8:132888030 [GRCh38] Chr8:133900275 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5687-18C>T |
single nucleotide variant |
not provided [RCV003851170] |
Chr8:132967776 [GRCh38] Chr8:133980021 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2142T>A (p.Pro714=) |
single nucleotide variant |
not provided [RCV003581034] |
Chr8:132887514 [GRCh38] Chr8:133899759 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5042-7C>T |
single nucleotide variant |
not provided [RCV003850751] |
Chr8:132941344 [GRCh38] Chr8:133953589 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.6315A>T (p.Pro2105=) |
single nucleotide variant |
not provided [RCV003699876] |
Chr8:133011953 [GRCh38] Chr8:134024198 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3696G>A (p.Glu1232=) |
single nucleotide variant |
not provided [RCV003850987] |
Chr8:132906749 [GRCh38] Chr8:133918994 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.67+13G>A |
single nucleotide variant |
not provided [RCV003664415] |
Chr8:132867080 [GRCh38] Chr8:133879325 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5549-10T>G |
single nucleotide variant |
not provided [RCV003716929] |
Chr8:132966550 [GRCh38] Chr8:133978795 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2762-17T>C |
single nucleotide variant |
not provided [RCV003834961] |
Chr8:132893673 [GRCh38] Chr8:133905918 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.5202C>A (p.Cys1734Ter) |
single nucleotide variant |
not provided [RCV003699898] |
Chr8:132941511 [GRCh38] Chr8:133953756 [GRCh37] Chr8:8q24.22 |
pathogenic |
NM_003235.5(TG):c.1041T>C (p.His347=) |
single nucleotide variant |
not provided [RCV003663578] |
Chr8:132882965 [GRCh38] Chr8:133895210 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_001045556.3(SLA):c.-319+7337G>A |
single nucleotide variant |
not provided [RCV003697501] |
Chr8:133095216 [GRCh38] Chr8:134107460 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.2268C>T (p.Ser756=) |
single nucleotide variant |
not provided [RCV003717580] |
Chr8:132888075 [GRCh38] Chr8:133900320 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.3001+5G>A |
single nucleotide variant |
not provided [RCV003665535] |
Chr8:132893934 [GRCh38] Chr8:133906179 [GRCh37] Chr8:8q24.22 |
likely pathogenic |
NM_003235.5(TG):c.4378+16C>A |
single nucleotide variant |
not provided [RCV003549710] |
Chr8:132913281 [GRCh38] Chr8:133925526 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.228C>T (p.Asn76=) |
single nucleotide variant |
not provided [RCV003717654] |
Chr8:132869780 [GRCh38] Chr8:133882025 [GRCh37] Chr8:8q24.22 |
likely benign |
NM_003235.5(TG):c.4816+8G>A |
single nucleotide variant |
not provided [RCV003697139] |
Chr8:132929200 [GRCh38] Chr8:133941445 [GRCh37] Chr8:8q24.22 |
likely benign |