SLC6A19, IVS8, T-G, +2 |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV000002094] |
Chr5:5p15.33 |
pathogenic |
NM_001003841.3(SLC6A19):c.884_885del (p.Val295fs) |
microsatellite |
Neutral 1 amino acid transport defect [RCV000002095] |
Chr5:1214060..1214061 [GRCh38] Chr5:1214175..1214176 [GRCh37] Chr5:5p15.33 |
pathogenic |
NM_001003841.3(SLC6A19):c.1017-4G>A |
single nucleotide variant |
Hyperglycinuria [RCV000002099]|Iminoglycinuria, digenic [RCV000002098]|Neutral 1 amino acid transport defect [RCV001807719]|not provided [RCV001519773]|not specified [RCV001530131] |
Chr5:1216785 [GRCh38] Chr5:1216900 [GRCh37] Chr5:5p15.33 |
pathogenic|benign |
NM_001003841.3(SLC6A19):c.1705G>T (p.Glu569Ter) |
single nucleotide variant |
not provided [RCV000723052] |
Chr5:1221704 [GRCh38] Chr5:1221819 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.728del (p.Thr243fs) |
deletion |
not provided [RCV000722915] |
Chr5:1213527 [GRCh38] Chr5:1213642 [GRCh37] Chr5:5p15.33 |
pathogenic|uncertain significance |
NM_001003841.3(SLC6A19):c.1173+2T>G |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV000002094]|SLC6A19-related disorder [RCV003905313]|not provided [RCV000521109] |
Chr5:1216947 [GRCh38] Chr5:1217062 [GRCh37] Chr5:5p15.33 |
pathogenic |
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) |
single nucleotide variant |
Hyperglycinuria [RCV000763127]|Neutral 1 amino acid transport defect [RCV000002096]|SLC6A19-related disorder [RCV003415626]|not provided [RCV000413766]|not specified [RCV001170020] |
Chr5:1212338 [GRCh38] Chr5:1212338..1212339 [GRCh38] Chr5:1212453 [GRCh37] Chr5:1212453..1212454 [GRCh37] Chr5:5p15.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records |
NM_001003841.3(SLC6A19):c.718C>T (p.Arg240Ter) |
single nucleotide variant |
Hyperglycinuria [RCV002482814]|Neutral 1 amino acid transport defect [RCV000002097]|not provided [RCV005089147] |
Chr5:1213517 [GRCh38] Chr5:1213632 [GRCh37] Chr5:5p15.33 |
pathogenic |
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 |
copy number loss |
See cases [RCV000050295] |
Chr5:49978..15678451 [GRCh38] Chr5:50093..15678560 [GRCh37] Chr5:103093..15731560 [NCBI36] Chr5:5p15.33-15.1 |
pathogenic |
GRCh38/hg38 5p15.33(chr5:22149-3404244)x1 |
copy number loss |
See cases [RCV000050885] |
Chr5:22149..3404244 [GRCh38] Chr5:22149..3404358 [GRCh37] Chr5:75149..3457358 [NCBI36] Chr5:5p15.33 |
pathogenic |
GRCh38/hg38 5p15.33(chr5:22149-1826256)x1 |
copy number loss |
See cases [RCV000050655] |
Chr5:22149..1826256 [GRCh38] Chr5:22149..1826370 [GRCh37] Chr5:75149..1879370 [NCBI36] Chr5:5p15.33 |
pathogenic |
GRCh38/hg38 5p15.33(chr5:49978-4014647)x1 |
copy number loss |
See cases [RCV000051100] |
Chr5:49978..4014647 [GRCh38] Chr5:50093..4014761 [GRCh37] Chr5:103093..4067761 [NCBI36] Chr5:5p15.33 |
pathogenic |
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 |
copy number gain |
See cases [RCV000051810] |
Chr5:54839..45649861 [GRCh38] Chr5:54954..45649963 [GRCh37] Chr5:107954..45685720 [NCBI36] Chr5:5p15.33-12 |
pathogenic |
GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 |
copy number gain |
See cases [RCV000051811] |
Chr5:54839..35680845 [GRCh38] Chr5:54954..35680947 [GRCh37] Chr5:107954..35716704 [NCBI36] Chr5:5p15.33-13.2 |
pathogenic |
GRCh38/hg38 5p15.33-15.31(chr5:21949-8872509)x3 |
copy number gain |
See cases [RCV000051808] |
Chr5:21949..8872509 [GRCh38] Chr5:21949..8872621 [GRCh37] Chr5:74949..8925621 [NCBI36] Chr5:5p15.33-15.31 |
pathogenic |
GRCh38/hg38 5p15.33-15.31(chr5:49778-8872509)x3 |
copy number gain |
See cases [RCV000051809] |
Chr5:49778..8872509 [GRCh38] Chr5:49893..8872621 [GRCh37] Chr5:102893..8925621 [NCBI36] Chr5:5p15.33-15.31 |
pathogenic |
GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1 |
copy number loss |
See cases [RCV000053397] |
Chr5:22149..7213275 [GRCh38] Chr5:22149..7213388 [GRCh37] Chr5:75149..7266388 [NCBI36] Chr5:5p15.33-15.31 |
pathogenic |
GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1 |
copy number loss |
See cases [RCV000053398] |
Chr5:22149..23132046 [GRCh38] Chr5:22149..23132155 [GRCh37] Chr5:75149..23167912 [NCBI36] Chr5:5p15.33-14.3 |
pathogenic |
GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1 |
copy number loss |
See cases [RCV000053399] |
Chr5:22149..12004091 [GRCh38] Chr5:22149..12004203 [GRCh37] Chr5:75149..12057203 [NCBI36] Chr5:5p15.33-15.2 |
pathogenic |
GRCh38/hg38 5p15.33(chr5:22149-3556942)x1 |
copy number loss |
See cases [RCV000053400] |
Chr5:22149..3556942 [GRCh38] Chr5:22149..3557056 [GRCh37] Chr5:75149..3610056 [NCBI36] Chr5:5p15.33 |
pathogenic |
GRCh38/hg38 5p15.33-15.1(chr5:22149-17425613)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|See cases [RCV000053401] |
Chr5:22149..17425613 [GRCh38] Chr5:22149..17425722 [GRCh37] Chr5:75149..17478722 [NCBI36] Chr5:5p15.33-15.1 |
pathogenic |
GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1 |
copy number loss |
See cases [RCV000053416] |
Chr5:22149..10044087 [GRCh38] Chr5:22149..10044199 [GRCh37] Chr5:75149..10097199 [NCBI36] Chr5:5p15.33-15.2 |
pathogenic |
GRCh38/hg38 5p15.33-15.32(chr5:22149-4580491)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053417]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053417]|See cases [RCV000053417] |
Chr5:22149..4580491 [GRCh38] Chr5:22149..4580604 [GRCh37] Chr5:75149..4633604 [NCBI36] Chr5:5p15.33-15.32 |
pathogenic |
GRCh38/hg38 5p15.33-15.1(chr5:22149-15995341)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|See cases [RCV000053418] |
Chr5:22149..15995341 [GRCh38] Chr5:22149..15995450 [GRCh37] Chr5:75149..16048450 [NCBI36] Chr5:5p15.33-15.1 |
pathogenic |
GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1 |
copy number loss |
See cases [RCV000053419] |
Chr5:22419..19280892 [GRCh38] Chr5:22419..19281001 [GRCh37] Chr5:75419..19316758 [NCBI36] Chr5:5p15.33-14.3 |
pathogenic |
GRCh38/hg38 5p15.33(chr5:37694-2746908)x1 |
copy number loss |
See cases [RCV000053420] |
Chr5:37694..2746908 [GRCh38] Chr5:37692..2747022 [GRCh37] Chr5:90692..2800022 [NCBI36] Chr5:5p15.33 |
pathogenic |
GRCh38/hg38 5p15.33(chr5:37694-2913205)x1 |
copy number loss |
See cases [RCV000053421] |
Chr5:37694..2913205 [GRCh38] Chr5:37692..2913319 [GRCh37] Chr5:90692..2966319 [NCBI36] Chr5:5p15.33 |
pathogenic |
GRCh38/hg38 5p15.33-15.1(chr5:49778-16908798)x1 |
copy number loss |
See cases [RCV000053422] |
Chr5:49778..16908798 [GRCh38] Chr5:49893..16908907 [GRCh37] Chr5:102893..16961907 [NCBI36] Chr5:5p15.33-15.1 |
pathogenic |
GRCh38/hg38 5p15.33-15.32(chr5:49778-4768868)x1 |
copy number loss |
See cases [RCV000053423] |
Chr5:49778..4768868 [GRCh38] Chr5:49893..4768981 [GRCh37] Chr5:102893..4821981 [NCBI36] Chr5:5p15.33-15.32 |
pathogenic |
GRCh38/hg38 5p15.33-14.3(chr5:49778-19125522)x1 |
copy number loss |
See cases [RCV000053424] |
Chr5:49778..19125522 [GRCh38] Chr5:49893..19125631 [GRCh37] Chr5:102893..19161388 [NCBI36] Chr5:5p15.33-14.3 |
pathogenic |
GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1 |
copy number loss |
See cases [RCV000053444] |
Chr5:54839..5603401 [GRCh38] Chr5:54954..5603514 [GRCh37] Chr5:107954..5656514 [NCBI36] Chr5:5p15.33-15.32 |
pathogenic |
GRCh38/hg38 5p15.33-14.1(chr5:547757-26541238)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|See cases [RCV000053445] |
Chr5:547757..26541238 [GRCh38] Chr5:547872..26541347 [GRCh37] Chr5:600872..26577104 [NCBI36] Chr5:5p15.33-14.1 |
pathogenic |
NM_001003841.3(SLC6A19):c.1540T>G (p.Phe514Val) |
single nucleotide variant |
not provided [RCV000087176] |
Chr5:1221152 [GRCh38] Chr5:1221267 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.306T>C (p.Gly102=) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV001544067]|not provided [RCV001518088]|not specified [RCV000118390] |
Chr5:1208849 [GRCh38] Chr5:1208964 [GRCh37] Chr5:5p15.33 |
benign|likely benign |
NM_001003841.3(SLC6A19):c.754G>A (p.Val252Ile) |
single nucleotide variant |
not provided [RCV001518089]|not specified [RCV000118391] |
Chr5:1213553 [GRCh38] Chr5:1213668 [GRCh37] Chr5:5p15.33 |
benign|likely benign |
NM_001003841.3(SLC6A19):c.990A>G (p.Thr330=) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV001544069]|not provided [RCV001518090]|not specified [RCV000118392] |
Chr5:1216660 [GRCh38] Chr5:1216775 [GRCh37] Chr5:5p15.33 |
benign|likely benign |
GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1 |
copy number loss |
See cases [RCV001310287] |
Chr5:22149..29048823 [GRCh37] Chr5:5p15.33-13.3 |
pathogenic |
GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3 |
copy number gain |
See cases [RCV000133788] |
Chr5:22149..33418188 [GRCh38] Chr5:22149..33418294 [GRCh37] Chr5:75149..33454051 [NCBI36] Chr5:5p15.33-13.3 |
pathogenic |
GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1 |
copy number loss |
See cases [RCV000133796] |
Chr5:22149..12819999 [GRCh38] Chr5:22149..12820111 [GRCh37] Chr5:75149..12873111 [NCBI36] Chr5:5p15.33-15.2 |
pathogenic |
NM_001003841.3(SLC6A19):c.908C>T (p.Ser303Leu) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV001171522]|not provided [RCV002559643] |
Chr5:1216578 [GRCh38] Chr5:1216693 [GRCh37] Chr5:5p15.33 |
pathogenic|uncertain significance |
NM_001003841.3(SLC6A19):c.1787_1788insG (p.Ile597fs) |
insertion |
Neutral 1 amino acid transport defect [RCV001171523] |
Chr5:1221786..1221787 [GRCh38] Chr5:1221901..1221902 [GRCh37] Chr5:5p15.33 |
pathogenic |
GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1 |
copy number loss |
See cases [RCV000133768] |
Chr5:22149..25699605 [GRCh38] Chr5:22149..25699714 [GRCh37] Chr5:75149..25735471 [NCBI36] Chr5:5p15.33-14.1 |
pathogenic |
GRCh38/hg38 5p15.33(chr5:1085824-1315406)x3 |
copy number gain |
See cases [RCV000135385] |
Chr5:1085824..1315406 [GRCh38] Chr5:1085939..1315521 [GRCh37] Chr5:1138939..1368521 [NCBI36] Chr5:5p15.33 |
uncertain significance |
GRCh38/hg38 5p15.33(chr5:22149-1278576)x3 |
copy number gain |
See cases [RCV000135393] |
Chr5:22149..1278576 [GRCh38] Chr5:22149..1278691 [GRCh37] Chr5:75149..1331691 [NCBI36] Chr5:5p15.33 |
uncertain significance |
GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1 |
copy number loss |
See cases [RCV000134873] |
Chr5:22149..27788616 [GRCh38] Chr5:22149..27788723 [GRCh37] Chr5:75149..27824480 [NCBI36] Chr5:5p15.33-14.1 |
pathogenic |
GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1 |
copy number loss |
See cases [RCV000135878] |
Chr5:49978..30112535 [GRCh38] Chr5:50093..30112642 [GRCh37] Chr5:103093..30148399 [NCBI36] Chr5:5p15.33-13.3 |
pathogenic |
GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1 |
copy number loss |
See cases [RCV000135668] |
Chr5:22149..32248010 [GRCh38] Chr5:22149..32248116 [GRCh37] Chr5:75149..32283873 [NCBI36] Chr5:5p15.33-13.3 |
pathogenic |
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 |
copy number gain |
See cases [RCV000135453] |
Chr5:49978..46114984 [GRCh38] Chr5:50093..46115086 [GRCh37] Chr5:103093..46150843 [NCBI36] Chr5:5p15.33-11 |
pathogenic |
GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1 |
copy number loss |
See cases [RCV000136556] |
Chr5:22149..16584575 [GRCh38] Chr5:22149..16584684 [GRCh37] Chr5:75149..16637684 [NCBI36] Chr5:5p15.33-15.1 |
pathogenic |
GRCh38/hg38 5p15.33(chr5:924086-1544344)x3 |
copy number gain |
See cases [RCV000135933] |
Chr5:924086..1544344 [GRCh38] Chr5:924201..1544459 [GRCh37] Chr5:977201..1597459 [NCBI36] Chr5:5p15.33 |
uncertain significance |
GRCh38/hg38 5p15.33(chr5:22149-1429599)x1 |
copy number loss |
See cases [RCV000136900] |
Chr5:22149..1429599 [GRCh38] Chr5:22149..1429714 [GRCh37] Chr5:75149..1482714 [NCBI36] Chr5:5p15.33 |
pathogenic |
GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1 |
copy number loss |
See cases [RCV000137072] |
Chr5:22149..27485619 [GRCh38] Chr5:22149..27485726 [GRCh37] Chr5:75149..27521483 [NCBI36] Chr5:5p15.33-14.1 |
pathogenic |
GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3 |
copy number gain |
See cases [RCV000136943] |
Chr5:22149..15851376 [GRCh38] Chr5:22149..15851485 [GRCh37] Chr5:75149..15904485 [NCBI36] Chr5:5p15.33-15.1 |
pathogenic |
GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3 |
copy number gain |
See cases [RCV000137682] |
Chr5:22149..28075106 [GRCh38] Chr5:22149..28075213 [GRCh37] Chr5:75149..28110970 [NCBI36] Chr5:5p15.33-14.1 |
pathogenic|uncertain significance |
GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1 |
copy number loss |
See cases [RCV000137165] |
Chr5:22149..28429241 [GRCh38] Chr5:22149..28429348 [GRCh37] Chr5:75149..28465105 [NCBI36] Chr5:5p15.33-14.1 |
pathogenic |
GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1 |
copy number loss |
See cases [RCV000138116] |
Chr5:22149..22775295 [GRCh38] Chr5:22149..22775404 [GRCh37] Chr5:75149..22811161 [NCBI36] Chr5:5p15.33-14.3 |
pathogenic |
GRCh38/hg38 5p15.33-15.32(chr5:22149-6060102)x1 |
copy number loss |
See cases [RCV000138215] |
Chr5:22149..6060102 [GRCh38] Chr5:22149..6060215 [GRCh37] Chr5:75149..6113215 [NCBI36] Chr5:5p15.33-15.32 |
pathogenic |
GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1 |
copy number loss |
See cases [RCV000138099] |
Chr5:22149..27187950 [GRCh38] Chr5:22149..27188057 [GRCh37] Chr5:75149..27223814 [NCBI36] Chr5:5p15.33-14.1 |
pathogenic |
GRCh38/hg38 5p15.33(chr5:22149-4260151)x1 |
copy number loss |
See cases [RCV000137942] |
Chr5:22149..4260151 [GRCh38] Chr5:22149..4260264 [GRCh37] Chr5:75149..4313264 [NCBI36] Chr5:5p15.33 |
pathogenic |
GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1 |
copy number loss |
See cases [RCV000137884] |
Chr5:22149..11429258 [GRCh38] Chr5:22149..11429370 [GRCh37] Chr5:75149..11482370 [NCBI36] Chr5:5p15.33-15.2 |
pathogenic |
GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1 |
copy number loss |
See cases [RCV000137915] |
Chr5:22149..11530391 [GRCh38] Chr5:22149..11530503 [GRCh37] Chr5:75149..11583503 [NCBI36] Chr5:5p15.33-15.2 |
pathogenic |
GRCh38/hg38 5p15.33(chr5:821764-1271935)x3 |
copy number gain |
See cases [RCV000137788] |
Chr5:821764..1271935 [GRCh38] Chr5:821879..1272050 [GRCh37] Chr5:874879..1325050 [NCBI36] Chr5:5p15.33 |
likely benign |
GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3 |
copy number gain |
See cases [RCV000137806] |
Chr5:22149..23607053 [GRCh38] Chr5:22149..23607162 [GRCh37] Chr5:75149..23642919 [NCBI36] Chr5:5p15.33-14.2 |
pathogenic |
GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 |
copy number loss |
See cases [RCV000138888] |
Chr5:22149..35831538 [GRCh38] Chr5:22149..35831640 [GRCh37] Chr5:75149..35867397 [NCBI36] Chr5:5p15.33-13.2 |
pathogenic |
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 |
copy number gain |
See cases [RCV000138780] |
Chr5:22149..74412725 [GRCh38] Chr5:22149..73708550 [GRCh37] Chr5:75149..73744306 [NCBI36] Chr5:5p15.33-q13.3 |
pathogenic |
GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1 |
copy number loss |
See cases [RCV000138553] |
Chr5:22149..21217120 [GRCh38] Chr5:22149..21217229 [GRCh37] Chr5:75149..21252986 [NCBI36] Chr5:5p15.33-14.3 |
pathogenic |
GRCh38/hg38 5p15.33-15.1(chr5:22149-17788697)x1 |
copy number loss |
See cases [RCV000138288] |
Chr5:22149..17788697 [GRCh38] Chr5:22149..17788806 [GRCh37] Chr5:75149..17824563 [NCBI36] Chr5:5p15.33-15.1 |
likely benign |
GRCh38/hg38 5p15.33(chr5:22149-2323943)x3 |
copy number gain |
See cases [RCV000139303] |
Chr5:22149..2323943 [GRCh38] Chr5:22149..2324057 [GRCh37] Chr5:75149..2377057 [NCBI36] Chr5:5p15.33 |
pathogenic |
GRCh38/hg38 5p15.33(chr5:22149-3619159) |
copy number gain |
See cases [RCV000139908] |
Chr5:22149..3619159 [GRCh38] Chr5:22149..3619273 [GRCh37] Chr5:75149..3672273 [NCBI36] Chr5:5p15.33 |
uncertain significance |
GRCh38/hg38 5p15.33(chr5:965217-1528677)x3 |
copy number gain |
See cases [RCV000139630] |
Chr5:965217..1528677 [GRCh38] Chr5:965332..1528792 [GRCh37] Chr5:1018332..1581792 [NCBI36] Chr5:5p15.33 |
likely benign |
GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1 |
copy number loss |
See cases [RCV000141225] |
Chr5:22149..28589192 [GRCh38] Chr5:22149..28589299 [GRCh37] Chr5:75149..28625056 [NCBI36] Chr5:5p15.33-14.1 |
pathogenic |
GRCh38/hg38 5p15.33-15.32(chr5:22149-4833626)x1 |
copy number loss |
See cases [RCV000141244] |
Chr5:22149..4833626 [GRCh38] Chr5:22149..4833739 [GRCh37] Chr5:75149..4886739 [NCBI36] Chr5:5p15.33-15.32 |
pathogenic |
GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1 |
copy number loss |
See cases [RCV000140964] |
Chr5:22149..16930016 [GRCh38] Chr5:22149..16930125 [GRCh37] Chr5:75149..16983125 [NCBI36] Chr5:5p15.33-15.1 |
pathogenic |
GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1 |
copy number loss |
See cases [RCV000141930] |
Chr5:113461..8875933 [GRCh38] Chr5:113576..8876045 [GRCh37] Chr5:166576..8929045 [NCBI36] Chr5:5p15.33-15.31 |
pathogenic |
GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1 |
copy number loss |
See cases [RCV000141844] |
Chr5:113461..33998289 [GRCh38] Chr5:113576..33998394 [GRCh37] Chr5:166576..34034151 [NCBI36] Chr5:5p15.33-13.2 |
pathogenic |
GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1 |
copy number loss |
See cases [RCV000141898] |
Chr5:113461..6243977 [GRCh38] Chr5:113576..6244090 [GRCh37] Chr5:166576..6297090 [NCBI36] Chr5:5p15.33-15.32 |
pathogenic |
GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1 |
copy number loss |
See cases [RCV000142183] |
Chr5:113461..14684362 [GRCh38] Chr5:113576..14684471 [GRCh37] Chr5:166576..14737471 [NCBI36] Chr5:5p15.33-15.2 |
pathogenic |
GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1 |
copy number loss |
See cases [RCV000143022] |
Chr5:22149..21726360 [GRCh38] Chr5:22149..21726469 [GRCh37] Chr5:75149..21762226 [NCBI36] Chr5:5p15.33-14.3 |
pathogenic |
GRCh38/hg38 5p15.33-15.32(chr5:22149-5059896)x1 |
copy number loss |
See cases [RCV000143018] |
Chr5:22149..5059896 [GRCh38] Chr5:22149..5060009 [GRCh37] Chr5:75149..5113009 [NCBI36] Chr5:5p15.33-15.32 |
pathogenic |
GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1 |
copy number loss |
See cases [RCV000142934] |
Chr5:22149..27611163 [GRCh38] Chr5:22149..27611270 [GRCh37] Chr5:75149..27647027 [NCBI36] Chr5:5p15.33-14.1 |
pathogenic |
GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1 |
copy number loss |
See cases [RCV000142697] |
Chr5:95128..5834551 [GRCh38] Chr5:95243..5834664 [GRCh37] Chr5:148243..5887664 [NCBI36] Chr5:5p15.33-15.32 |
pathogenic |
GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1 |
copy number loss |
See cases [RCV000142645] |
Chr5:22149..26593891 [GRCh38] Chr5:22149..26594000 [GRCh37] Chr5:75149..26629757 [NCBI36] Chr5:5p15.33-14.1 |
pathogenic |
GRCh38/hg38 5p15.33(chr5:22149-1659135)x3 |
copy number gain |
See cases [RCV000142646] |
Chr5:22149..1659135 [GRCh38] Chr5:22149..1659250 [GRCh37] Chr5:75149..1712250 [NCBI36] Chr5:5p15.33 |
pathogenic |
GRCh38/hg38 5p15.33-15.32(chr5:22149-5102586)x1 |
copy number loss |
See cases [RCV000143332] |
Chr5:22149..5102586 [GRCh38] Chr5:22149..5102699 [GRCh37] Chr5:75149..5155699 [NCBI36] Chr5:5p15.33-15.32 |
pathogenic |
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 |
copy number loss |
See cases [RCV000148250] |
Chr5:49978..15678451 [GRCh38] Chr5:50093..15678560 [GRCh37] Chr5:103093..15731560 [NCBI36] Chr5:5p15.33-15.1 |
pathogenic |
NM_001003841.3(SLC6A19):c.828C>T (p.Phe276=) |
single nucleotide variant |
not specified [RCV000194972] |
Chr5:1214006 [GRCh38] Chr5:1214121 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1 |
copy number loss |
See cases [RCV000515550] |
Chr5:25328..30672798 [GRCh37] Chr5:5p15.33-13.3 |
pathogenic |
NM_001003841.3(SLC6A19):c.146G>A (p.Cys49Tyr) |
single nucleotide variant |
not provided [RCV000190382] |
Chr5:1201796 [GRCh38] Chr5:1201911 [GRCh37] Chr5:5p15.33 |
not provided |
GRCh37/hg19 5p15.33-15.1(chr5:79146-15509107)x1 |
copy number loss |
See cases [RCV000240157] |
Chr5:79146..15509107 [GRCh37] Chr5:5p15.33-15.1 |
pathogenic |
t(5;16)(p15.31;q23.1) |
translocation |
not provided [RCV000203391] |
Chr5:1..8180513 [GRCh37] Chr16:76935310..90354753 [GRCh37] Chr5:5p15.33-15.31 Chr16:16q23.1-24.3 |
likely pathogenic |
GRCh37/hg19 5p15.33-13.3(chr5:113576-33493797)x1 |
copy number loss |
See cases [RCV000449075] |
Chr5:113576..33493797 [GRCh37] Chr5:5p15.33-13.3 |
pathogenic |
GRCh37/hg19 5p15.33-14.3(chr5:25328-19661628)x3 |
copy number gain |
not provided [RCV000234904] |
Chr5:25328..19661628 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
NM_001003841.3(SLC6A19):c.941C>T (p.Ser314Leu) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005031806]|not provided [RCV000224449] |
Chr5:1216611 [GRCh38] Chr5:1216726 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3 |
copy number gain |
See cases [RCV000240016] |
Chr5:22149..34041255 [GRCh37] Chr5:5p15.33-13.2 |
pathogenic |
NM_001003841.3(SLC6A19):c.941C>A (p.Ser314Ter) |
single nucleotide variant |
not provided [RCV000520343] |
Chr5:1216611 [GRCh38] Chr5:1216726 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
GRCh37/hg19 5p15.33-15.2(chr5:22149-13362684)x1 |
copy number loss |
See cases [RCV000240389] |
Chr5:22149..13362684 [GRCh37] Chr5:5p15.33-15.2 |
pathogenic |
NM_001003841.3(SLC6A19):c.41G>A (p.Arg14Gln) |
single nucleotide variant |
not provided [RCV000514646] |
Chr5:1201691 [GRCh38] Chr5:1201806 [GRCh37] Chr5:5p15.33 |
benign|likely benign |
NM_001003841.3(SLC6A19):c.968C>T (p.Ser323Phe) |
single nucleotide variant |
not provided [RCV000722425] |
Chr5:1216638 [GRCh38] Chr5:1216753 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1538+80C>T |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV001544071]|not provided [RCV001638149] |
Chr5:1219744 [GRCh38] Chr5:1219859 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.1539-67T>C |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV001544072]|not provided [RCV001713009] |
Chr5:1221084 [GRCh38] Chr5:1221084..1221085 [GRCh38] Chr5:1221199 [GRCh37] Chr5:1221199..1221200 [GRCh37] Chr5:5p15.33 |
benign |
GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1 |
copy number loss |
See cases [RCV002285039] |
Chr5:113576..30712376 [GRCh37] Chr5:5p15.33-13.3 |
pathogenic |
GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925) |
copy number loss |
5p partial monosomy syndrome [RCV000767709] |
Chr5:140474..26906925 [GRCh37] Chr5:5p15.33-14.1 |
pathogenic |
NM_001003841.3(SLC6A19):c.180C>G (p.Tyr60Ter) |
single nucleotide variant |
not provided [RCV000598978] |
Chr5:1201830 [GRCh38] Chr5:1201945 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
NM_001003841.3(SLC6A19):c.482-2A>C |
single nucleotide variant |
not provided [RCV000598992] |
Chr5:1212301 [GRCh38] Chr5:1212416 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.284_300dup (p.Leu101fs) |
duplication |
not provided [RCV000723181] |
Chr5:1208819..1208820 [GRCh38] Chr5:1208934..1208935 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1296_1297del (p.Met432fs) |
deletion |
not provided [RCV000730695] |
Chr5:1219024..1219025 [GRCh38] Chr5:1219139..1219140 [GRCh37] Chr5:5p15.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
GRCh37/hg19 5p15.33-15.1(chr5:113576-16854340)x1 |
copy number loss |
See cases [RCV000449097] |
Chr5:113576..16854340 [GRCh37] Chr5:5p15.33-15.1 |
pathogenic |
GRCh37/hg19 5p15.33-13.3(chr5:113576-30279389)x3 |
copy number gain |
See cases [RCV000446077] |
Chr5:113576..30279389 [GRCh37] Chr5:5p15.33-13.3 |
pathogenic |
GRCh37/hg19 5p15.33-14.1(chr5:22149-24835567)x1 |
copy number loss |
See cases [RCV000447672] |
Chr5:22149..24835567 [GRCh37] Chr5:5p15.33-14.1 |
pathogenic |
GRCh37/hg19 5p15.33-15.32(chr5:22149-6112711)x1 |
copy number loss |
See cases [RCV000447679] |
Chr5:22149..6112711 [GRCh37] Chr5:5p15.33-15.32 |
pathogenic |
GRCh37/hg19 5p15.33-13.2(chr5:113576-34372083)x1 |
copy number loss |
See cases [RCV000446974] |
Chr5:113576..34372083 [GRCh37] Chr5:5p15.33-13.2 |
pathogenic |
GRCh37/hg19 5p15.33-15.2(chr5:22149-9958240)x1 |
copy number loss |
See cases [RCV000447483] |
Chr5:22149..9958240 [GRCh37] Chr5:5p15.33-15.2 |
pathogenic |
GRCh37/hg19 5p15.33-15.32(chr5:22149-4641409)x1 |
copy number loss |
See cases [RCV000446677] |
Chr5:22149..4641409 [GRCh37] Chr5:5p15.33-15.32 |
pathogenic |
GRCh37/hg19 5p15.33-15.1(chr5:113576-17334977)x1 |
copy number loss |
See cases [RCV000446645] |
Chr5:113576..17334977 [GRCh37] Chr5:5p15.33-15.1 |
pathogenic |
GRCh37/hg19 5p15.33-15.31(chr5:113576-6737134)x1 |
copy number loss |
See cases [RCV000446523] |
Chr5:113576..6737134 [GRCh37] Chr5:5p15.33-15.31 |
pathogenic |
GRCh37/hg19 5p15.33-14.1(chr5:113576-27338567)x1 |
copy number loss |
See cases [RCV000446054] |
Chr5:113576..27338567 [GRCh37] Chr5:5p15.33-14.1 |
pathogenic |
GRCh37/hg19 5p15.33-15.2(chr5:113576-14238330)x3 |
copy number gain |
See cases [RCV000447632] |
Chr5:113576..14238330 [GRCh37] Chr5:5p15.33-15.2 |
pathogenic |
GRCh37/hg19 5p15.33(chr5:22149-2965987)x1 |
copy number loss |
See cases [RCV000446665] |
Chr5:22149..2965987 [GRCh37] Chr5:5p15.33 |
pathogenic |
GRCh37/hg19 5p15.33-14.1(chr5:113576-25948451)x1 |
copy number loss |
See cases [RCV000447462] |
Chr5:113576..25948451 [GRCh37] Chr5:5p15.33-14.1 |
pathogenic |
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1 |
copy number loss |
See cases [RCV000448019] |
Chr5:22149..34041196 [GRCh37] Chr5:5p15.33-13.2 |
pathogenic |
GRCh37/hg19 5p15.33-14.3(chr5:113576-21786246)x1 |
copy number loss |
See cases [RCV000448521] |
Chr5:113576..21786246 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
GRCh37/hg19 5p15.33-15.31(chr5:22149-6500967)x1 |
copy number loss |
See cases [RCV000448543] |
Chr5:22149..6500967 [GRCh37] Chr5:5p15.33-15.31 |
pathogenic |
GRCh37/hg19 5p15.33(chr5:22149-4163847)x1 |
copy number loss |
See cases [RCV000447780] |
Chr5:22149..4163847 [GRCh37] Chr5:5p15.33 |
pathogenic |
GRCh37/hg19 5p15.33-14.3(chr5:113576-23147737)x1 |
copy number loss |
See cases [RCV000448408] |
Chr5:113576..23147737 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
GRCh37/hg19 5p15.33-14.3(chr5:79146-22152284)x1 |
copy number loss |
See cases [RCV000447737] |
Chr5:79146..22152284 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
GRCh37/hg19 5p15.33-15.31(chr5:149372-7883578)x3 |
copy number gain |
See cases [RCV000447969] |
Chr5:149372..7883578 [GRCh37] Chr5:5p15.33-15.31 |
pathogenic |
GRCh37/hg19 5p15.33(chr5:1100067-1341964)x3 |
copy number gain |
See cases [RCV000448470] |
Chr5:1100067..1341964 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1 |
copy number loss |
See cases [RCV000512066] |
Chr5:113576..25091472 [GRCh37] Chr5:5p15.33-14.1 |
pathogenic |
GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1 |
copy number loss |
See cases [RCV000510193] |
Chr5:113576..26234903 [GRCh37] Chr5:5p15.33-14.1 |
pathogenic |
GRCh37/hg19 5p15.33-15.2(chr5:113576-10163809)x1 |
copy number loss |
See cases [RCV000511494] |
Chr5:113576..10163809 [GRCh37] Chr5:5p15.33-15.2 |
pathogenic |
GRCh37/hg19 5p15.33-15.1(chr5:113576-15291661)x1 |
copy number loss |
See cases [RCV000511513] |
Chr5:113576..15291661 [GRCh37] Chr5:5p15.33-15.1 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 |
copy number gain |
See cases [RCV000512039] |
Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) |
copy number gain |
See cases [RCV000510723] |
Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p15.33-15.32(chr5:113576-5380741)x1 |
copy number loss |
See cases [RCV000511088] |
Chr5:113576..5380741 [GRCh37] Chr5:5p15.33-15.32 |
pathogenic |
GRCh37/hg19 5p15.33-15.2(chr5:113576-10729838)x1 |
copy number loss |
See cases [RCV000510912] |
Chr5:113576..10729838 [GRCh37] Chr5:5p15.33-15.2 |
pathogenic |
GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1 |
copy number loss |
See cases [RCV000510921] |
Chr5:113576..26948599 [GRCh37] Chr5:5p15.33-14.1 |
pathogenic |
GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1 |
copy number loss |
See cases [RCV000510786] |
Chr5:113576..23047959 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
NM_001003841.3(SLC6A19):c.1463A>G (p.Tyr488Cys) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV000626258] |
Chr5:1219589 [GRCh38] Chr5:1219704 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33(chr5:113576-4175855)x1 |
copy number loss |
See cases [RCV000512452] |
Chr5:113576..4175855 [GRCh37] Chr5:5p15.33 |
pathogenic |
GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3 |
copy number gain |
See cases [RCV000512567] |
Chr5:113576..20240392 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
GRCh37/hg19 5p15.33(chr5:113576-1816055)x1 |
copy number loss |
not provided [RCV000682510] |
Chr5:113576..1816055 [GRCh37] Chr5:5p15.33 |
pathogenic |
GRCh37/hg19 5p15.33-15.32(chr5:113576-5884399)x1 |
copy number loss |
not provided [RCV000682511] |
Chr5:113576..5884399 [GRCh37] Chr5:5p15.33-15.32 |
pathogenic |
GRCh37/hg19 5p15.33-15.32(chr5:113576-6125331)x1 |
copy number loss |
not provided [RCV000682512] |
Chr5:113576..6125331 [GRCh37] Chr5:5p15.33-15.32 |
pathogenic |
GRCh37/hg19 5p15.33-15.31(chr5:113576-7946262)x1 |
copy number loss |
not provided [RCV000682513] |
Chr5:113576..7946262 [GRCh37] Chr5:5p15.33-15.31 |
pathogenic |
GRCh37/hg19 5p15.33-15.1(chr5:113576-15822225)x1 |
copy number loss |
not provided [RCV000682514] |
Chr5:113576..15822225 [GRCh37] Chr5:5p15.33-15.1 |
pathogenic |
GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1 |
copy number loss |
not provided [RCV000682515] |
Chr5:113576..19167699 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3 |
copy number gain |
not provided [RCV000682516] |
Chr5:113576..35739404 [GRCh37] Chr5:5p15.33-13.2 |
pathogenic |
GRCh37/hg19 5p15.33(chr5:113576-1708530)x1 |
copy number loss |
not provided [RCV000682509] |
Chr5:113576..1708530 [GRCh37] Chr5:5p15.33 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 |
copy number gain |
not provided [RCV000744323] |
Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 |
copy number gain |
not provided [RCV000744317] |
Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p15.33-14.3(chr5:25328-18662625)x1 |
copy number loss |
not provided [RCV000744320] |
Chr5:25328..18662625 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
GRCh37/hg19 5p15.33-14.3(chr5:25328-18698028)x3 |
copy number gain |
not provided [RCV000744321] |
Chr5:25328..18698028 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
GRCh37/hg19 5p15.33-13.3(chr5:25328-31343671)x1 |
copy number loss |
not provided [RCV000744322] |
Chr5:25328..31343671 [GRCh37] Chr5:5p15.33-13.3 |
pathogenic |
GRCh37/hg19 5p15.33(chr5:1113556-1202817)x3 |
copy number gain |
not provided [RCV000744354] |
Chr5:1113556..1202817 [GRCh37] Chr5:5p15.33 |
benign |
GRCh37/hg19 5p15.33(chr5:1201599-1235790)x1 |
copy number loss |
not provided [RCV000744356] |
Chr5:1201599..1235790 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.343+184C>G |
single nucleotide variant |
not provided [RCV001534203] |
Chr5:1209070 [GRCh38] Chr5:1209185 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.1173+163G>C |
single nucleotide variant |
not provided [RCV001680523] |
Chr5:1217108 [GRCh38] Chr5:1217223 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.887+84A>G |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV001544068]|not provided [RCV001713008] |
Chr5:1214149 [GRCh38] Chr5:1214264 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.1538+95G>A |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV001544070]|not provided [RCV001595103] |
Chr5:1219759 [GRCh38] Chr5:1219874 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.1174-90C>T |
single nucleotide variant |
not provided [RCV001725445] |
Chr5:1218813 [GRCh38] Chr5:1218928 [GRCh37] Chr5:5p15.33 |
benign |
GRCh37/hg19 5p15.33(chr5:52186-4163906)x1 |
copy number loss |
not provided [RCV000762763] |
Chr5:52186..4163906 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
NM_001003841.3(SLC6A19):c.*152T>C |
single nucleotide variant |
not provided [RCV001641519] |
Chr5:1222056 [GRCh38] Chr5:1222171 [GRCh37] Chr5:5p15.33 |
benign |
NC_000005.10:g.(?_218349)_(1297373_?)dup |
duplication |
Interstitial lung disease 2 [RCV001031280] |
Chr5:218464..1297488 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.-8C>T |
single nucleotide variant |
SLC6A19-related disorder [RCV003921336]|not provided [RCV001690758] |
Chr5:1201643 [GRCh38] Chr5:1201758 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.45C>G (p.Ile15Met) |
single nucleotide variant |
Hyperglycinuria [RCV002502652]|Neutral 1 amino acid transport defect [RCV005392522]|not provided [RCV000900429] |
Chr5:1201695 [GRCh38] Chr5:1201810 [GRCh37] Chr5:5p15.33 |
benign|likely benign |
NM_001003841.3(SLC6A19):c.114G>A (p.Lys38=) |
single nucleotide variant |
not provided [RCV000904307] |
Chr5:1201764 [GRCh38] Chr5:1201879 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.417C>T (p.Tyr139=) |
single nucleotide variant |
not provided [RCV000899519] |
Chr5:1210517 [GRCh38] Chr5:1210632 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1158C>T (p.Asn386=) |
single nucleotide variant |
SLC6A19-related disorder [RCV003933120]|not provided [RCV000923325] |
Chr5:1216930 [GRCh38] Chr5:1217045 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.984C>T (p.Arg328=) |
single nucleotide variant |
not provided [RCV000880141] |
Chr5:1216654 [GRCh38] Chr5:1216769 [GRCh37] Chr5:5p15.33 |
benign|likely benign |
NM_001003841.3(SLC6A19):c.570G>A (p.Ser190=) |
single nucleotide variant |
not provided [RCV000903945] |
Chr5:1212391 [GRCh38] Chr5:1212506 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1302G>A (p.Gly434=) |
single nucleotide variant |
Hyperglycinuria [RCV002479140]|not provided [RCV000973689] |
Chr5:1219031 [GRCh38] Chr5:1219146 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.420A>G (p.Leu140=) |
single nucleotide variant |
not provided [RCV000926457] |
Chr5:1210520 [GRCh38] Chr5:1210635 [GRCh37] Chr5:5p15.33 |
likely benign |
GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158) |
copy number loss |
5p partial monosomy syndrome [RCV000767710] |
Chr5:140474..9792158 [GRCh37] Chr5:5p15.33-15.31 |
pathogenic |
NM_001003841.3(SLC6A19):c.555G>A (p.Thr185=) |
single nucleotide variant |
Hyperglycinuria [RCV002501415]|not provided [RCV000885163] |
Chr5:1212376 [GRCh38] Chr5:1212491 [GRCh37] Chr5:5p15.33 |
benign|likely benign |
NM_001003841.3(SLC6A19):c.1002C>T (p.Asp334=) |
single nucleotide variant |
SLC6A19-related disorder [RCV003916193]|not provided [RCV000965684] |
Chr5:1216672 [GRCh38] Chr5:1216787 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.813G>A (p.Ala271=) |
single nucleotide variant |
not provided [RCV000936753] |
Chr5:1213991 [GRCh38] Chr5:1214106 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.888-3C>T |
single nucleotide variant |
SLC6A19-related disorder [RCV003935945]|not provided [RCV000961590] |
Chr5:1216555 [GRCh38] Chr5:1216670 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.1044C>T (p.Phe348=) |
single nucleotide variant |
Hyperglycinuria [RCV002501485]|not provided [RCV000893552]|not specified [RCV003987736] |
Chr5:1216816 [GRCh38] Chr5:1216931 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.276C>T (p.Ile92=) |
single nucleotide variant |
not provided [RCV000909053] |
Chr5:1208819 [GRCh38] Chr5:1208934 [GRCh37] Chr5:5p15.33 |
benign|likely benign |
NM_001003841.3(SLC6A19):c.1065G>A (p.Val355=) |
single nucleotide variant |
not provided [RCV000978498] |
Chr5:1216837 [GRCh38] Chr5:1216952 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1737G>A (p.Pro579=) |
single nucleotide variant |
SLC6A19-related disorder [RCV003967976]|not provided [RCV000880376] |
Chr5:1221736 [GRCh38] Chr5:1221851 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1317C>T (p.Val439=) |
single nucleotide variant |
not provided [RCV000937522] |
Chr5:1219046 [GRCh38] Chr5:1219161 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1212C>T (p.Thr404=) |
single nucleotide variant |
not provided [RCV000884413] |
Chr5:1218941 [GRCh38] Chr5:1219056 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.775-5C>T |
single nucleotide variant |
not provided [RCV000887984] |
Chr5:1213948 [GRCh38] Chr5:1214063 [GRCh37] Chr5:5p15.33 |
benign|likely benign |
GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1 |
copy number loss |
not provided [RCV001005642] |
Chr5:113576..23364376 [GRCh37] Chr5:5p15.33-14.2 |
pathogenic |
GRCh37/hg19 5p15.33-15.32(chr5:113576-5657333)x1 |
copy number loss |
not provided [RCV001005645] |
Chr5:113576..5657333 [GRCh37] Chr5:5p15.33-15.32 |
pathogenic |
NM_001003841.3(SLC6A19):c.1888G>A (p.Gly630Arg) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV000791207]|not provided [RCV005056553] |
Chr5:1221887 [GRCh38] Chr5:1222002 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33(chr5:1120346-1344342)x3 |
copy number gain |
not provided [RCV000848966] |
Chr5:1120346..1344342 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33-15.2(chr5:113576-11767720)x1 |
copy number loss |
not provided [RCV001005644] |
Chr5:113576..11767720 [GRCh37] Chr5:5p15.33-15.2 |
pathogenic |
NC_000005.10:g.(?_218346)_(1295046_?)del |
deletion |
Interstitial lung disease 2 [RCV001031825] |
Chr5:218461..1295161 [GRCh37] Chr5:5p15.33 |
pathogenic |
NM_001003841.3(SLC6A19):c.1701+1G>A |
single nucleotide variant |
High myopia [RCV000785715]|Hyperglycinuria [RCV001262680]|Neutral 1 amino acid transport defect [RCV003989596]|not provided [RCV002533872]|not specified [RCV005418335] |
Chr5:1221314 [GRCh38] Chr5:1221429 [GRCh37] Chr5:5p15.33 |
likely pathogenic|uncertain significance |
GRCh37/hg19 5p15.33(chr5:1088198-1274440)x3 |
copy number gain |
not provided [RCV000846463] |
Chr5:1088198..1274440 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33(chr5:944046-1541755)x3 |
copy number gain |
not provided [RCV001005647] |
Chr5:944046..1541755 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33(chr5:953886-1210188)x3 |
copy number gain |
not provided [RCV001005648] |
Chr5:953886..1210188 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33(chr5:113576-4325585)x1 |
copy number loss |
not provided [RCV001005641] |
Chr5:113576..4325585 [GRCh37] Chr5:5p15.33 |
pathogenic |
NM_001003841.3(SLC6A19):c.712C>T (p.Leu238Phe) |
single nucleotide variant |
Hyperglycinuria [RCV001250112] |
Chr5:1213511 [GRCh38] Chr5:1213626 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969) |
copy number loss |
5p partial monosomy syndrome [RCV001195139] |
Chr5:71904..22078969 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
NM_001003841.3(SLC6A19):c.1603C>T (p.Arg535Cys) |
single nucleotide variant |
Hyperglycinuria [RCV001250078]|not provided [RCV002570411] |
Chr5:1221215 [GRCh38] Chr5:1221330 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.476A>G (p.Gln159Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003239925] |
Chr5:1210576 [GRCh38] Chr5:1210691 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.589A>G (p.Met197Val) |
single nucleotide variant |
not provided [RCV003104883] |
Chr5:1212410 [GRCh38] Chr5:1212525 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.481+93G>A |
single nucleotide variant |
not provided [RCV001721599] |
Chr5:1210674 [GRCh38] Chr5:1210789 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.775-60_775-58del |
deletion |
not provided [RCV001651995] |
Chr5:1213891..1213893 [GRCh38] Chr5:1214006..1214008 [GRCh37] Chr5:5p15.33 |
benign |
GRCh37/hg19 5p15.33(chr5:26141-2537457)x3 |
copy number gain |
Global developmental delay [RCV002284255] |
Chr5:26141..2537457 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.810C>T (p.Asp270=) |
single nucleotide variant |
not provided [RCV000917030] |
Chr5:1213988 [GRCh38] Chr5:1214103 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1611C>A (p.Val537=) |
single nucleotide variant |
not provided [RCV000977337] |
Chr5:1221223 [GRCh38] Chr5:1221338 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.558C>T (p.Ser186=) |
single nucleotide variant |
Hyperglycinuria [RCV002479109]|not provided [RCV000960849] |
Chr5:1212379 [GRCh38] Chr5:1212494 [GRCh37] Chr5:5p15.33 |
benign|likely benign |
NM_001003841.3(SLC6A19):c.162C>T (p.Asn54=) |
single nucleotide variant |
Hyperglycinuria [RCV002502759]|not provided [RCV000914989] |
Chr5:1201812 [GRCh38] Chr5:1201927 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.966C>T (p.Tyr322=) |
single nucleotide variant |
Hyperglycinuria [RCV002489425]|not provided [RCV000974193] |
Chr5:1216636 [GRCh38] Chr5:1216751 [GRCh37] Chr5:5p15.33 |
benign|likely benign |
NM_001003841.3(SLC6A19):c.1701C>T (p.Tyr567=) |
single nucleotide variant |
not provided [RCV000974194] |
Chr5:1221313 [GRCh38] Chr5:1221428 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.897C>T (p.Cys299=) |
single nucleotide variant |
not provided [RCV000929057] |
Chr5:1216567 [GRCh38] Chr5:1216682 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.612A>T (p.Ala204=) |
single nucleotide variant |
not provided [RCV000916543] |
Chr5:1212433 [GRCh38] Chr5:1212548 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.219G>A (p.Pro73=) |
single nucleotide variant |
SLC6A19-related disorder [RCV003933201]|not provided [RCV000938569] |
Chr5:1208762 [GRCh38] Chr5:1208877 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.327G>A (p.Pro109=) |
single nucleotide variant |
not provided [RCV000882641] |
Chr5:1208870 [GRCh38] Chr5:1208985 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.117G>A (p.Ala39=) |
single nucleotide variant |
Hyperglycinuria [RCV002502906]|SLC6A19-related disorder [RCV003960588]|not provided [RCV000946829] |
Chr5:1201767 [GRCh38] Chr5:1201882 [GRCh37] Chr5:5p15.33 |
benign|likely benign |
NM_001003841.3(SLC6A19):c.664-8C>T |
single nucleotide variant |
not provided [RCV000880784] |
Chr5:1213455 [GRCh38] Chr5:1213570 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.453C>T (p.Ser151=) |
single nucleotide variant |
Hyperglycinuria [RCV002502639]|not provided [RCV000898518] |
Chr5:1210553 [GRCh38] Chr5:1210668 [GRCh37] Chr5:5p15.33 |
likely benign |
GRCh37/hg19 5p15.33(chr5:113576-2485820)x1 |
copy number loss |
not provided [RCV001005640] |
Chr5:113576..2485820 [GRCh37] Chr5:5p15.33 |
likely pathogenic|uncertain significance |
GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1 |
copy number loss |
not provided [RCV001005643] |
Chr5:113576..14738180 [GRCh37] Chr5:5p15.33-15.2 |
pathogenic |
GRCh37/hg19 5p15.33-15.32(chr5:113576-5194484)x1 |
copy number loss |
not provided [RCV001005646] |
Chr5:113576..5194484 [GRCh37] Chr5:5p15.33-15.32 |
pathogenic |
NM_001003841.3(SLC6A19):c.156C>T (p.Leu52=) |
single nucleotide variant |
Hyperglycinuria [RCV002479049]|not provided [RCV000911284] |
Chr5:1201806 [GRCh38] Chr5:1201921 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.1521C>T (p.Tyr507=) |
single nucleotide variant |
Hyperglycinuria [RCV002505339]|not provided [RCV000911438] |
Chr5:1219647 [GRCh38] Chr5:1219762 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1639C>T (p.Leu547Phe) |
single nucleotide variant |
not provided [RCV000889566] |
Chr5:1221251 [GRCh38] Chr5:1221366 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.774+10C>T |
single nucleotide variant |
Hyperglycinuria [RCV002505392]|not provided [RCV000935169] |
Chr5:1213583 [GRCh38] Chr5:1213698 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.169C>T (p.Arg57Cys) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV003230934]|not provided [RCV003561254] |
Chr5:1201819 [GRCh38] Chr5:1201934 [GRCh37] Chr5:5p15.33 |
likely pathogenic|uncertain significance |
GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1 |
copy number loss |
not provided [RCV002472712] |
Chr5:1..32091038 [GRCh37] Chr5:5p15.33-13.3 |
pathogenic |
GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1 |
copy number loss |
not provided [RCV002473919] |
Chr5:113577..17654787 [GRCh37] Chr5:5p15.33-15.1 |
pathogenic |
NM_001003841.3(SLC6A19):c.663+48C>T |
single nucleotide variant |
Hyperglycinuria [RCV001810110]|Neutral 1 amino acid transport defect [RCV001810109]|not provided [RCV001597358] |
Chr5:1212532 [GRCh38] Chr5:1212647 [GRCh37] Chr5:5p15.33 |
benign |
NC_000005.10:g.1201349A>G |
single nucleotide variant |
not provided [RCV001643619] |
Chr5:1201349 [GRCh38] Chr5:1201464 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.*148C>T |
single nucleotide variant |
not provided [RCV001721601] |
Chr5:1222052 [GRCh38] Chr5:1222167 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.343+62A>T |
single nucleotide variant |
not provided [RCV001620142] |
Chr5:1208948 [GRCh38] Chr5:1209063 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.664-68C>T |
single nucleotide variant |
not provided [RCV001721605] |
Chr5:1213395 [GRCh38] Chr5:1213510 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.1468G>A (p.Gly490Ser) |
single nucleotide variant |
Iminoglycinuria [RCV001197345]|Inborn genetic diseases [RCV003293988]|Neutral 1 amino acid transport defect [RCV005005063]|not provided [RCV003117840] |
Chr5:1219594 [GRCh38] Chr5:1219709 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NC_000005.10:g.(?_218349)_(1297373_?)del |
deletion |
Interstitial lung disease 2 [RCV001032442] |
Chr5:218464..1297488 [GRCh37] Chr5:5p15.33 |
pathogenic |
NM_001003841.3(SLC6A19):c.532C>T (p.Arg178Ter) |
single nucleotide variant |
Hyperglycinuria [RCV001536072]|Neutral 1 amino acid transport defect [RCV001174897]|SLC6A19-related disorder [RCV003413970]|not provided [RCV001873654] |
Chr5:1212353 [GRCh38] Chr5:1212468 [GRCh37] Chr5:5p15.33 |
pathogenic |
NM_001003841.3(SLC6A19):c.664-51A>G |
single nucleotide variant |
not provided [RCV001696716] |
Chr5:1213412 [GRCh38] Chr5:1213527 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.1174-156C>A |
single nucleotide variant |
not provided [RCV001616211] |
Chr5:1218747 [GRCh38] Chr5:1218862 [GRCh37] Chr5:5p15.33 |
benign |
NC_000005.10:g.1201391C>T |
single nucleotide variant |
not provided [RCV001536995] |
Chr5:1201391 [GRCh38] Chr5:1201506 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.202+33C>T |
single nucleotide variant |
not provided [RCV001710003] |
Chr5:1201885 [GRCh38] Chr5:1202000 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.1378+94C>T |
single nucleotide variant |
not provided [RCV001671708] |
Chr5:1219201 [GRCh38] Chr5:1219316 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.929A>T (p.Asn310Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004683844] |
Chr5:1216599 [GRCh38] Chr5:1216714 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33(chr5:499883-1309062)x3 |
copy number gain |
not provided [RCV001258845] |
Chr5:499883..1309062 [GRCh37] Chr5:5p15.33 |
likely benign |
GRCh37/hg19 5p15.33(chr5:113576-4305172)x1 |
copy number loss |
not provided [RCV001258846] |
Chr5:113576..4305172 [GRCh37] Chr5:5p15.33 |
pathogenic |
GRCh37/hg19 5p15.33(chr5:875401-1310234)x3 |
copy number gain |
not provided [RCV001258848] |
Chr5:875401..1310234 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33(chr5:113576-1286005)x1 |
copy number loss |
not provided [RCV001258849] |
Chr5:113576..1286005 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1606G>A (p.Val536Met) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV001291823]|not provided [RCV002070117] |
Chr5:1221218 [GRCh38] Chr5:1221333 [GRCh37] Chr5:5p15.33 |
likely benign|uncertain significance |
NM_001003841.3(SLC6A19):c.970G>A (p.Val324Ile) |
single nucleotide variant |
not provided [RCV001356482] |
Chr5:1216640 [GRCh38] Chr5:1216755 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1378+7G>C |
single nucleotide variant |
not provided [RCV003852696] |
Chr5:1219114 [GRCh38] Chr5:1219229 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.887+9G>A |
single nucleotide variant |
Hyperglycinuria [RCV002486486]|not provided [RCV001357408] |
Chr5:1214074 [GRCh38] Chr5:1214189 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.539C>T (p.Thr180Met) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV001333601]|not provided [RCV002546638] |
Chr5:1212360 [GRCh38] Chr5:1212475 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.202+175C>T |
single nucleotide variant |
not provided [RCV001643645] |
Chr5:1202027 [GRCh38] Chr5:1202142 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.1173+14G>A |
single nucleotide variant |
not provided [RCV001516330] |
Chr5:1216959 [GRCh38] Chr5:1217074 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.663+16G>A |
single nucleotide variant |
not provided [RCV001511678]|not specified [RCV001701177] |
Chr5:1212500 [GRCh38] Chr5:1212615 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.1204G>A (p.Val402Ile) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005038239]|not provided [RCV001484253] |
Chr5:1218933 [GRCh38] Chr5:1219048 [GRCh37] Chr5:5p15.33 |
likely benign|uncertain significance |
NM_001003841.3(SLC6A19):c.1590G>T (p.Trp530Cys) |
single nucleotide variant |
not provided [RCV001438537] |
Chr5:1221202 [GRCh38] Chr5:1221317 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1651G>A (p.Val551Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003346564]|not provided [RCV001447003] |
Chr5:1221263 [GRCh38] Chr5:1221378 [GRCh37] Chr5:5p15.33 |
likely benign|uncertain significance |
NM_001003841.3(SLC6A19):c.1173+52C>T |
single nucleotide variant |
not provided [RCV001533837] |
Chr5:1216997 [GRCh38] Chr5:1217112 [GRCh37] Chr5:5p15.33 |
benign |
GRCh37/hg19 5p15.33(chr5:13200-4012072)x1 |
copy number loss |
not provided [RCV001537929] |
Chr5:13200..4012072 [GRCh37] Chr5:5p15.33 |
pathogenic |
NM_001003841.3(SLC6A19):c.774+1G>A |
single nucleotide variant |
Hyperglycinuria [RCV002476847]|not provided [RCV001529406] |
Chr5:1213574 [GRCh38] Chr5:1213689 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
NM_001003841.3(SLC6A19):c.343+192C>G |
single nucleotide variant |
not provided [RCV001679314] |
Chr5:1209078 [GRCh38] Chr5:1209193 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.1379-9G>C |
single nucleotide variant |
SLC6A19-related disorder [RCV003980582]|not provided [RCV001519774] |
Chr5:1219496 [GRCh38] Chr5:1219611 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.482-61C>A |
single nucleotide variant |
not provided [RCV001674672] |
Chr5:1212242 [GRCh38] Chr5:1212357 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.343+15G>A |
single nucleotide variant |
not provided [RCV001518835] |
Chr5:1208901 [GRCh38] Chr5:1209016 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.931G>A (p.Gly311Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004040738]|not provided [RCV001755576] |
Chr5:1216601 [GRCh38] Chr5:1216716 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.27C>T (p.Pro9=) |
single nucleotide variant |
not provided [RCV001727310] |
Chr5:1201677 [GRCh38] Chr5:1201792 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.727A>G (p.Thr243Ala) |
single nucleotide variant |
not provided [RCV001725896] |
Chr5:1213526 [GRCh38] Chr5:1213641 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.898G>A (p.Glu300Lys) |
single nucleotide variant |
not provided [RCV001776839] |
Chr5:1216568 [GRCh38] Chr5:1216683 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.410T>C (p.Met137Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002540651]|Neutral 1 amino acid transport defect [RCV005040366]|not provided [RCV001757762] |
Chr5:1210510 [GRCh38] Chr5:1210625 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1017-13A>G |
single nucleotide variant |
not provided [RCV001753282] |
Chr5:1216776 [GRCh38] Chr5:1216891 [GRCh37] Chr5:5p15.33 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001003841.3(SLC6A19):c.812C>T (p.Ala271Val) |
single nucleotide variant |
not provided [RCV001776939] |
Chr5:1213990 [GRCh38] Chr5:1214105 [GRCh37] Chr5:5p15.33 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001003841.3(SLC6A19):c.767C>T (p.Thr256Met) |
single nucleotide variant |
Hyperglycinuria [RCV002490065]|not provided [RCV001864575] |
Chr5:1213566 [GRCh38] Chr5:1213681 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1432G>A (p.Gly478Ser) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005038470]|not provided [RCV001915499] |
Chr5:1219558 [GRCh38] Chr5:1219673 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.648C>G (p.Ile216Met) |
single nucleotide variant |
not provided [RCV001968778] |
Chr5:1212469 [GRCh38] Chr5:1212584 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.779C>T (p.Thr260Met) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005038446]|not provided [RCV001889232] |
Chr5:1213957 [GRCh38] Chr5:1214072 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.836_838del (p.Phe279del) |
deletion |
not provided [RCV001968985] |
Chr5:1214012..1214014 [GRCh38] Chr5:1214127..1214129 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NC_000005.9:g.(?_218471)_(1895829_?)del |
deletion |
Parkinsonism-dystonia, infantile [RCV003120784] |
Chr5:218471..1895829 [GRCh37] Chr5:5p15.33 |
pathogenic |
NM_001003841.3(SLC6A19):c.277G>A (p.Gly93Arg) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005397229]|not provided [RCV002025161] |
Chr5:1208820 [GRCh38] Chr5:1208935 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
GRCh37/hg19 5p15.33(chr5:1049525-1278280)x3 |
copy number gain |
not provided [RCV001834230] |
Chr5:1049525..1278280 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33(chr5:113577-2276310)x1 |
copy number loss |
not provided [RCV001834250] |
Chr5:113577..2276310 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1325C>A (p.Pro442His) |
single nucleotide variant |
Hyperglycinuria [RCV002492368]|not provided [RCV002023244] |
Chr5:1219054 [GRCh38] Chr5:1219169 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1843G>T (p.Asp615Tyr) |
single nucleotide variant |
not provided [RCV001968783] |
Chr5:1221842 [GRCh38] Chr5:1221957 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.392C>T (p.Thr131Ile) |
single nucleotide variant |
not provided [RCV002003052] |
Chr5:1210492 [GRCh38] Chr5:1210607 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.640C>T (p.Arg214Cys) |
single nucleotide variant |
not provided [RCV001912834] |
Chr5:1212461 [GRCh38] Chr5:1212576 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.985G>A (p.Ala329Thr) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005002779]|not provided [RCV002040859] |
Chr5:1216655 [GRCh38] Chr5:1216770 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.502A>G (p.Arg168Gly) |
single nucleotide variant |
Hyperglycinuria [RCV002507750]|Inborn genetic diseases [RCV005281071]|not provided [RCV002005551] |
Chr5:1212323 [GRCh38] Chr5:1212438 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.284G>A (p.Arg95Gln) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV001838851]|not provided [RCV002542815] |
Chr5:1208827 [GRCh38] Chr5:1208942 [GRCh37] Chr5:5p15.33 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_001003841.3(SLC6A19):c.683C>T (p.Thr228Met) |
single nucleotide variant |
Hyperglycinuria [RCV002492232]|not provided [RCV002003044] |
Chr5:1213482 [GRCh38] Chr5:1213597 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.983G>A (p.Arg328His) |
single nucleotide variant |
not provided [RCV002021247] |
Chr5:1216653 [GRCh38] Chr5:1216768 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.692A>G (p.Tyr231Cys) |
single nucleotide variant |
not provided [RCV001890475] |
Chr5:1213491 [GRCh38] Chr5:1213606 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.728C>T (p.Thr243Met) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005038448]|not provided [RCV001910949] |
Chr5:1213527 [GRCh38] Chr5:1213642 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1448C>T (p.Ser483Phe) |
single nucleotide variant |
not provided [RCV001894650] |
Chr5:1219574 [GRCh38] Chr5:1219689 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1352C>T (p.Pro451Leu) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005042694]|not provided [RCV002043685] |
Chr5:1219081 [GRCh38] Chr5:1219196 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.306_307inv (p.Val103Met) |
inversion |
not provided [RCV001871135] |
Chr5:1208849..1208850 [GRCh38] Chr5:1208964..1208965 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.995G>A (p.Arg332His) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005032124]|not provided [RCV002021540] |
Chr5:1216665 [GRCh38] Chr5:1216780 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1492G>A (p.Ala498Thr) |
single nucleotide variant |
not provided [RCV001984529] |
Chr5:1219618 [GRCh38] Chr5:1219733 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.641G>A (p.Arg214His) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005002686]|not provided [RCV001967229] |
Chr5:1212462 [GRCh38] Chr5:1212577 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1472C>G (p.Ser491Cys) |
single nucleotide variant |
not provided [RCV002041550] |
Chr5:1219598 [GRCh38] Chr5:1219713 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1451T>C (p.Leu484Pro) |
single nucleotide variant |
Hyperglycinuria [RCV002484920]|not provided [RCV002022255] |
Chr5:1219577 [GRCh38] Chr5:1219692 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1373T>C (p.Leu458Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002553651]|not provided [RCV001927403] |
Chr5:1219102 [GRCh38] Chr5:1219217 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33-15.1(chr5:113577-16952167)x1 |
copy number loss |
not provided [RCV001827855] |
Chr5:113577..16952167 [GRCh37] Chr5:5p15.33-15.1 |
pathogenic |
GRCh37/hg19 5p15.33(chr5:862397-1288682)x3 |
copy number gain |
not provided [RCV001829200] |
Chr5:862397..1288682 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1342G>A (p.Val448Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003170521]|not provided [RCV002015685] |
Chr5:1219071 [GRCh38] Chr5:1219186 [GRCh37] Chr5:5p15.33 |
likely benign|uncertain significance |
NM_001003841.3(SLC6A19):c.1538+18G>T |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005040464]|not provided [RCV001885703] |
Chr5:1219682 [GRCh38] Chr5:1219797 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1177G>A (p.Val393Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004045976]|Neutral 1 amino acid transport defect [RCV005032090]|not provided [RCV002013290] |
Chr5:1218906 [GRCh38] Chr5:1219021 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1522G>A (p.Val508Met) |
single nucleotide variant |
Hyperglycinuria [RCV002490084]|not provided [RCV001879498] |
Chr5:1219648 [GRCh38] Chr5:1219763 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.28G>A (p.Gly10Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004044897]|Neutral 1 amino acid transport defect [RCV005032143]|not provided [RCV002036859] |
Chr5:1201678 [GRCh38] Chr5:1201793 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.125T>C (p.Met42Thr) |
single nucleotide variant |
Hyperglycinuria [RCV002507734]|not provided [RCV001973765] |
Chr5:1201775 [GRCh38] Chr5:1201890 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.817G>A (p.Ala273Thr) |
single nucleotide variant |
not provided [RCV001932542] |
Chr5:1213995 [GRCh38] Chr5:1214110 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.739G>A (p.Ala247Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002571269]|not provided [RCV001973111] |
Chr5:1213538 [GRCh38] Chr5:1213653 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1545T>A (p.Asn515Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002548811]|Neutral 1 amino acid transport defect [RCV005002776]|not provided [RCV002029680] |
Chr5:1221157 [GRCh38] Chr5:1221272 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.98C>T (p.Pro33Leu) |
single nucleotide variant |
Hyperglycinuria [RCV002486739]|not provided [RCV002027224] |
Chr5:1201748 [GRCh38] Chr5:1201863 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.989_990inv (p.Thr330Met) |
inversion |
Neutral 1 amino acid transport defect [RCV005032103]|not provided [RCV002013517] |
Chr5:1216659..1216660 [GRCh38] Chr5:1216774..1216775 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1016C>T (p.Thr339Met) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005038481]|not provided [RCV001915857] |
Chr5:1216686 [GRCh38] Chr5:1216801 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NC_000005.9:g.(?_218471)_(1816030_?)del |
deletion |
not provided [RCV001915899] |
Chr5:218471..1816030 [GRCh37] Chr5:5p15.33 |
pathogenic |
NM_001003841.3(SLC6A19):c.569C>T (p.Ser190Leu) |
single nucleotide variant |
not provided [RCV001972254] |
Chr5:1212390 [GRCh38] Chr5:1212505 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.688C>T (p.Pro230Ser) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005002741]|not provided [RCV002014896] |
Chr5:1213487 [GRCh38] Chr5:1213602 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.401C>T (p.Ser134Phe) |
single nucleotide variant |
not provided [RCV001990885] |
Chr5:1210501 [GRCh38] Chr5:1210616 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.410T>A (p.Met137Lys) |
single nucleotide variant |
not provided [RCV001961423] |
Chr5:1210510 [GRCh38] Chr5:1210625 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1392G>A (p.Leu464=) |
single nucleotide variant |
not provided [RCV002050660] |
Chr5:1219518 [GRCh38] Chr5:1219633 [GRCh37] Chr5:5p15.33 |
likely benign|uncertain significance |
NM_001003841.3(SLC6A19):c.697G>A (p.Val233Ile) |
single nucleotide variant |
Hyperglycinuria [RCV002506876]|Neutral 1 amino acid transport defect [RCV003485735]|not provided [RCV002050745] |
Chr5:1213496 [GRCh38] Chr5:1213611 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.717C>G (p.Ile239Met) |
single nucleotide variant |
not provided [RCV001897887] |
Chr5:1213516 [GRCh38] Chr5:1213631 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.774C>T (p.Asn258=) |
single nucleotide variant |
not provided [RCV002012954] |
Chr5:1213573 [GRCh38] Chr5:1213688 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.293G>A (p.Arg98Gln) |
single nucleotide variant |
Hyperglycinuria [RCV002482632]|not provided [RCV001886302] |
Chr5:1208836 [GRCh38] Chr5:1208951 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.292C>T (p.Arg98Trp) |
single nucleotide variant |
Hyperglycinuria [RCV002503397]|not provided [RCV001904059] |
Chr5:1208835 [GRCh38] Chr5:1208950 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1086C>A (p.Asp362Glu) |
single nucleotide variant |
not provided [RCV001897134] |
Chr5:1216858 [GRCh38] Chr5:1216973 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.774+6T>A |
single nucleotide variant |
not provided [RCV001999066] |
Chr5:1213579 [GRCh38] Chr5:1213694 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.95G>A (p.Arg32Gln) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005002666]|not provided [RCV001933148] |
Chr5:1201745 [GRCh38] Chr5:1201860 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.640C>G (p.Arg214Gly) |
single nucleotide variant |
Hyperglycinuria [RCV002491899]|not provided [RCV001930813] |
Chr5:1212461 [GRCh38] Chr5:1212576 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.889_891AAC[1] (p.Asn298del) |
microsatellite |
not provided [RCV001907386] |
Chr5:1216558..1216560 [GRCh38] Chr5:1216673..1216675 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.619G>A (p.Val207Ile) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005032081]|not provided [RCV001991442] |
Chr5:1212440 [GRCh38] Chr5:1212555 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1097G>A (p.Arg366Gln) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005002675]|not provided [RCV001923856] |
Chr5:1216869 [GRCh38] Chr5:1216984 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NC_000005.9:g.(?_218471)_(1816030_?)dup |
duplication |
Parkinsonism-dystonia, infantile [RCV001939977]|not provided [RCV001939976] |
Chr5:218471..1816030 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1003G>A (p.Asp335Asn) |
single nucleotide variant |
Hyperglycinuria [RCV002490233]|Inborn genetic diseases [RCV003339807]|not provided [RCV001906829] |
Chr5:1216673 [GRCh38] Chr5:1216788 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.469G>A (p.Glu157Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002569332]|not provided [RCV001977298] |
Chr5:1210569 [GRCh38] Chr5:1210684 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1687T>A (p.Trp563Arg) |
single nucleotide variant |
not provided [RCV001904216] |
Chr5:1221299 [GRCh38] Chr5:1221414 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1244T>C (p.Leu415Pro) |
single nucleotide variant |
Hyperglycinuria [RCV002479786]|not provided [RCV002026417] |
Chr5:1218973 [GRCh38] Chr5:1219088 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.202+12G>A |
single nucleotide variant |
Hyperglycinuria [RCV002486926]|not provided [RCV002091971] |
Chr5:1201864 [GRCh38] Chr5:1201979 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.12C>T (p.Leu4=) |
single nucleotide variant |
not provided [RCV002105532] |
Chr5:1201662 [GRCh38] Chr5:1201777 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.462G>A (p.Pro154=) |
single nucleotide variant |
not provided [RCV002148720] |
Chr5:1210562 [GRCh38] Chr5:1210677 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1379-14C>T |
single nucleotide variant |
not provided [RCV002089400] |
Chr5:1219491 [GRCh38] Chr5:1219606 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.775-4G>A |
single nucleotide variant |
Hyperglycinuria [RCV002498293]|not provided [RCV002088097] |
Chr5:1213949 [GRCh38] Chr5:1214064 [GRCh37] Chr5:5p15.33 |
benign|likely benign |
NM_001003841.3(SLC6A19):c.887+8C>T |
single nucleotide variant |
Hyperglycinuria [RCV002507934]|not provided [RCV002075090] |
Chr5:1214073 [GRCh38] Chr5:1214188 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1110C>T (p.Ser370=) |
single nucleotide variant |
not provided [RCV002110732] |
Chr5:1216882 [GRCh38] Chr5:1216997 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.664-6C>T |
single nucleotide variant |
not provided [RCV002205424] |
Chr5:1213457 [GRCh38] Chr5:1213572 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1284G>C (p.Gly428=) |
single nucleotide variant |
Hyperglycinuria [RCV002500285]|not provided [RCV002153490] |
Chr5:1219013 [GRCh38] Chr5:1219128 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.195C>T (p.His65=) |
single nucleotide variant |
Hyperglycinuria [RCV002507948]|SLC6A19-related disorder [RCV003958636]|not provided [RCV002097320] |
Chr5:1201845 [GRCh38] Chr5:1201960 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1173+20C>T |
single nucleotide variant |
Hyperglycinuria [RCV002494434]|not provided [RCV002129108] |
Chr5:1216965 [GRCh38] Chr5:1217080 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.664-4G>A |
single nucleotide variant |
SLC6A19-related disorder [RCV003913567]|not provided [RCV002188227] |
Chr5:1213459 [GRCh38] Chr5:1213574 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1538+12G>A |
single nucleotide variant |
not provided [RCV002092665] |
Chr5:1219676 [GRCh38] Chr5:1219791 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.564C>T (p.Ser188=) |
single nucleotide variant |
not provided [RCV002151860] |
Chr5:1212385 [GRCh38] Chr5:1212500 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1402C>T (p.Leu468Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003081042]|Neutral 1 amino acid transport defect [RCV005032182]|not provided [RCV002153848] |
Chr5:1219528 [GRCh38] Chr5:1219643 [GRCh37] Chr5:5p15.33 |
likely benign|uncertain significance |
NM_001003841.3(SLC6A19):c.1016+15C>T |
single nucleotide variant |
not provided [RCV002092780] |
Chr5:1216701 [GRCh38] Chr5:1216816 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.48G>A (p.Pro16=) |
single nucleotide variant |
Hyperglycinuria [RCV002493997]|not provided [RCV002087147] |
Chr5:1201698 [GRCh38] Chr5:1201813 [GRCh37] Chr5:5p15.33 |
benign|likely benign |
NM_001003841.3(SLC6A19):c.363G>A (p.Thr121=) |
single nucleotide variant |
not provided [RCV002173706] |
Chr5:1210463 [GRCh38] Chr5:1210578 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.343+11C>T |
single nucleotide variant |
Hyperglycinuria [RCV002494278]|not provided [RCV002132048] |
Chr5:1208897 [GRCh38] Chr5:1209012 [GRCh37] Chr5:5p15.33 |
benign|likely benign |
NM_001003841.3(SLC6A19):c.1117G>A (p.Ala373Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004044962]|not provided [RCV002077726]|not specified [RCV003479393] |
Chr5:1216889 [GRCh38] Chr5:1217004 [GRCh37] Chr5:5p15.33 |
likely benign|uncertain significance |
NM_001003841.3(SLC6A19):c.684G>A (p.Thr228=) |
single nucleotide variant |
Hyperglycinuria [RCV002494507]|not provided [RCV002174325] |
Chr5:1213483 [GRCh38] Chr5:1213598 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.36C>T (p.Asp12=) |
single nucleotide variant |
not provided [RCV002195030] |
Chr5:1201686 [GRCh38] Chr5:1201801 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1596C>T (p.Val532=) |
single nucleotide variant |
Hyperglycinuria [RCV002486920]|not provided [RCV002079150] |
Chr5:1221208 [GRCh38] Chr5:1221323 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1599G>A (p.Thr533=) |
single nucleotide variant |
Hyperglycinuria [RCV002500184]|not provided [RCV002132765] |
Chr5:1221211 [GRCh38] Chr5:1221326 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.202+15C>T |
single nucleotide variant |
not provided [RCV002114841] |
Chr5:1201867 [GRCh38] Chr5:1201982 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1554C>T (p.Ile518=) |
single nucleotide variant |
Hyperglycinuria [RCV002500273]|not provided [RCV002153168] |
Chr5:1221166 [GRCh38] Chr5:1221281 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.343+37_343+75del |
deletion |
not provided [RCV002092388] |
Chr5:1208904..1208942 [GRCh38] Chr5:1209019..1209057 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.1127C>T (p.Ala376Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004046461]|not provided [RCV002101862] |
Chr5:1216899 [GRCh38] Chr5:1217014 [GRCh37] Chr5:5p15.33 |
likely benign|uncertain significance |
NM_001003841.3(SLC6A19):c.930C>T (p.Asn310=) |
single nucleotide variant |
not provided [RCV002104040] |
Chr5:1216600 [GRCh38] Chr5:1216715 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.570G>C (p.Ser190=) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005032184]|not provided [RCV002156324] |
Chr5:1212391 [GRCh38] Chr5:1212506 [GRCh37] Chr5:5p15.33 |
likely benign|uncertain significance |
NM_001003841.3(SLC6A19):c.1701+18C>T |
single nucleotide variant |
Hyperglycinuria [RCV002500232]|not provided [RCV002121715] |
Chr5:1221331 [GRCh38] Chr5:1221446 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.657C>T (p.Thr219=) |
single nucleotide variant |
Hyperglycinuria [RCV002498196]|not provided [RCV002200220] |
Chr5:1212478 [GRCh38] Chr5:1212593 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1019A>T (p.Asn340Ile) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV002227600] |
Chr5:1216791 [GRCh38] Chr5:1216906 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.816C>T (p.Gly272=) |
single nucleotide variant |
not provided [RCV002118553] |
Chr5:1213994 [GRCh38] Chr5:1214109 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.482-12C>T |
single nucleotide variant |
not provided [RCV002157453] |
Chr5:1212291 [GRCh38] Chr5:1212406 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.1809C>T (p.Tyr603=) |
single nucleotide variant |
not provided [RCV002197728] |
Chr5:1221808 [GRCh38] Chr5:1221923 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1314C>T (p.Gly438=) |
single nucleotide variant |
not provided [RCV002097953] |
Chr5:1219043 [GRCh38] Chr5:1219158 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.202+11C>T |
single nucleotide variant |
not provided [RCV002163188] |
Chr5:1201863 [GRCh38] Chr5:1201978 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1701+7G>C |
single nucleotide variant |
not provided [RCV002158011] |
Chr5:1221320 [GRCh38] Chr5:1221435 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1539-20G>C |
single nucleotide variant |
Hyperglycinuria [RCV002508094]|not provided [RCV002142904] |
Chr5:1221131 [GRCh38] Chr5:1221246 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1599G>C (p.Thr533=) |
single nucleotide variant |
SLC6A19-related disorder [RCV003978581]|not provided [RCV002221095] |
Chr5:1221211 [GRCh38] Chr5:1221326 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.343+9C>T |
single nucleotide variant |
not provided [RCV002175240] |
Chr5:1208895 [GRCh38] Chr5:1209010 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.481+12C>G |
single nucleotide variant |
Hyperglycinuria [RCV002500212]|not provided [RCV002121411] |
Chr5:1210593 [GRCh38] Chr5:1210708 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.202+16G>A |
single nucleotide variant |
not provided [RCV002201734] |
Chr5:1201868 [GRCh38] Chr5:1201983 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1431C>T (p.Ser477=) |
single nucleotide variant |
Hyperglycinuria [RCV002496128]|not provided [RCV002198471] |
Chr5:1219557 [GRCh38] Chr5:1219672 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1485C>T (p.Leu495=) |
single nucleotide variant |
Hyperglycinuria [RCV002494106]|not provided [RCV002200439] |
Chr5:1219611 [GRCh38] Chr5:1219726 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.849C>T (p.Phe283=) |
single nucleotide variant |
Hyperglycinuria [RCV002479847]|not provided [RCV002156714] |
Chr5:1214027 [GRCh38] Chr5:1214142 [GRCh37] Chr5:5p15.33 |
benign|likely benign |
NM_001003841.3(SLC6A19):c.1539-8C>T |
single nucleotide variant |
not provided [RCV002160531] |
Chr5:1221143 [GRCh38] Chr5:1221258 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.4G>T (p.Val2Leu) |
single nucleotide variant |
not provided [RCV002103052] |
Chr5:1201654 [GRCh38] Chr5:1201769 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.147C>T (p.Cys49=) |
single nucleotide variant |
not provided [RCV003115976] |
Chr5:1201797 [GRCh38] Chr5:1201912 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1489A>G (p.Ile497Val) |
single nucleotide variant |
not provided [RCV003112639] |
Chr5:1219615 [GRCh38] Chr5:1219730 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NC_000005.9:g.(?_482643)_(1895829_?)del |
deletion |
Dyskeratosis congenita, autosomal dominant 2 [RCV003113974] |
Chr5:482643..1895829 [GRCh37] Chr5:5p15.33 |
pathogenic |
NC_000005.9:g.(?_1201766)_(1443312_?)dup |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV003113975] |
Chr5:1201766..1443312 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.311G>A (p.Trp104Ter) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV003129594] |
Chr5:1208854 [GRCh38] Chr5:1208969 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
GRCh37/hg19 5p15.33-15.31(chr5:113576-8007018)x1 |
copy number loss |
See cases [RCV002286352] |
Chr5:113576..8007018 [GRCh37] Chr5:5p15.33-15.31 |
pathogenic |
NM_001003841.3(SLC6A19):c.725T>C (p.Leu242Pro) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005032228]|not provided [RCV002287062] |
Chr5:1213524 [GRCh38] Chr5:1213639 [GRCh37] Chr5:5p15.33 |
likely pathogenic|conflicting interpretations of pathogenicity |
GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520) |
copy number gain |
5p partial monosomy syndrome [RCV002280773] |
Chr5:113576..29310520 [GRCh37] Chr5:5p15.33-13.3 |
pathogenic |
GRCh37/hg19 5p15.33-15.2(chr5:113576-12601027) |
copy number loss |
5p partial monosomy syndrome [RCV002280774] |
Chr5:113576..12601027 [GRCh37] Chr5:5p15.33-15.2 |
pathogenic |
NM_001003841.3(SLC6A19):c.1550A>G (p.Asp517Gly) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV002283376] |
Chr5:1221162 [GRCh38] Chr5:1221277 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
GRCh37/hg19 5p15.33(chr5:113576-2027194)x1 |
copy number loss |
See cases [RCV002293403] |
Chr5:113576..2027194 [GRCh37] Chr5:5p15.33 |
pathogenic |
NM_001003841.3(SLC6A19):c.170G>A (p.Arg57His) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV003128306] |
Chr5:1201820 [GRCh38] Chr5:1201935 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
NM_001003841.3(SLC6A19):c.916G>T (p.Val306Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003282054] |
Chr5:1216586 [GRCh38] Chr5:1216701 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.709T>C (p.Phe237Leu) |
single nucleotide variant |
not provided [RCV002858100] |
Chr5:1213508 [GRCh38] Chr5:1213623 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33(chr5:1097653-1260917)x3 |
copy number gain |
not provided [RCV002474664] |
Chr5:1097653..1260917 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33(chr5:676464-1274326)x3 |
copy number gain |
not provided [RCV002474837] |
Chr5:676464..1274326 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33(chr5:987178-1219655)x3 |
copy number gain |
not provided [RCV002474842] |
Chr5:987178..1219655 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.886C>T (p.His296Tyr) |
single nucleotide variant |
not provided [RCV002304441] |
Chr5:1214064 [GRCh38] Chr5:1214179 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.928A>T (p.Asn310Tyr) |
single nucleotide variant |
not provided [RCV002301610] |
Chr5:1216598 [GRCh38] Chr5:1216713 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1213G>A (p.Glu405Lys) |
single nucleotide variant |
not specified [RCV002302473] |
Chr5:1218942 [GRCh38] Chr5:1219057 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.920C>T (p.Ser307Phe) |
single nucleotide variant |
not provided [RCV002301609] |
Chr5:1216590 [GRCh38] Chr5:1216705 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.84G>A (p.Glu28=) |
single nucleotide variant |
not provided [RCV002880960] |
Chr5:1201734 [GRCh38] Chr5:1201849 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1096C>T (p.Arg366Trp) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005044956]|not provided [RCV002727065] |
Chr5:1216868 [GRCh38] Chr5:1216983 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1546A>G (p.Lys516Glu) |
single nucleotide variant |
not provided [RCV002750421] |
Chr5:1221158 [GRCh38] Chr5:1221273 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.758T>C (p.Phe253Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002686714] |
Chr5:1213557 [GRCh38] Chr5:1213672 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1233G>A (p.Pro411=) |
single nucleotide variant |
not provided [RCV002726356] |
Chr5:1218962 [GRCh38] Chr5:1219077 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1107C>T (p.Ala369=) |
single nucleotide variant |
not provided [RCV002995912] |
Chr5:1216879 [GRCh38] Chr5:1216994 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1527C>T (p.Tyr509=) |
single nucleotide variant |
not provided [RCV002794997] |
Chr5:1219653 [GRCh38] Chr5:1219768 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1063G>A (p.Val355Met) |
single nucleotide variant |
not provided [RCV002618917] |
Chr5:1216835 [GRCh38] Chr5:1216950 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.888-8G>A |
single nucleotide variant |
not provided [RCV002617767] |
Chr5:1216550 [GRCh38] Chr5:1216665 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.775-11A>C |
single nucleotide variant |
not provided [RCV002904314] |
Chr5:1213942 [GRCh38] Chr5:1214057 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.148G>A (p.Val50Met) |
single nucleotide variant |
not provided [RCV002616512] |
Chr5:1201798 [GRCh38] Chr5:1201913 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1567G>A (p.Gly523Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002687696] |
Chr5:1221179 [GRCh38] Chr5:1221294 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.412T>G (p.Trp138Gly) |
single nucleotide variant |
not provided [RCV003033936] |
Chr5:1210512 [GRCh38] Chr5:1210627 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.290G>A (p.Arg97Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002947387]|not provided [RCV002910193] |
Chr5:1208833 [GRCh38] Chr5:1208948 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.47C>T (p.Pro16Leu) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005045320]|not provided [RCV002615173] |
Chr5:1201697 [GRCh38] Chr5:1201812 [GRCh37] Chr5:5p15.33 |
likely benign|uncertain significance |
NM_001003841.3(SLC6A19):c.1705G>A (p.Glu569Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002954119]|not provided [RCV002970644] |
Chr5:1221704 [GRCh38] Chr5:1221819 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1534G>A (p.Asp512Asn) |
single nucleotide variant |
not provided [RCV003073619] |
Chr5:1219660 [GRCh38] Chr5:1219775 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.609C>T (p.Cys203=) |
single nucleotide variant |
not provided [RCV002614909] |
Chr5:1212430 [GRCh38] Chr5:1212545 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1500C>T (p.Cys500=) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005042901]|not provided [RCV002616927] |
Chr5:1219626 [GRCh38] Chr5:1219741 [GRCh37] Chr5:5p15.33 |
likely benign|uncertain significance |
NM_001003841.3(SLC6A19):c.72C>T (p.Ile24=) |
single nucleotide variant |
not provided [RCV002994272] |
Chr5:1201722 [GRCh38] Chr5:1201837 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.774+11G>C |
single nucleotide variant |
not provided [RCV002755363] |
Chr5:1213584 [GRCh38] Chr5:1213699 [GRCh37] Chr5:5p15.33 |
likely benign |
GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1 |
copy number loss |
not provided [RCV002475666] |
Chr5:113577..31448527 [GRCh37] Chr5:5p15.33-13.3 |
pathogenic |
NM_001003841.3(SLC6A19):c.482-16A>C |
single nucleotide variant |
not provided [RCV002755713] |
Chr5:1212287 [GRCh38] Chr5:1212402 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.990A>T (p.Thr330=) |
single nucleotide variant |
not provided [RCV002974889] |
Chr5:1216660 [GRCh38] Chr5:1216775 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1343T>A (p.Val448Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002840294] |
Chr5:1219072 [GRCh38] Chr5:1219187 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1 |
copy number loss |
not provided [RCV002475573] |
Chr5:113577..26164852 [GRCh37] Chr5:5p15.33-14.1 |
pathogenic |
NM_001003841.3(SLC6A19):c.434A>G (p.Gln145Arg) |
single nucleotide variant |
not provided [RCV002914281] |
Chr5:1210534 [GRCh38] Chr5:1210649 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.203-15C>A |
single nucleotide variant |
not provided [RCV002740048] |
Chr5:1208731 [GRCh38] Chr5:1208846 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1538+13G>A |
single nucleotide variant |
not provided [RCV002740336] |
Chr5:1219677 [GRCh38] Chr5:1219792 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.664-15T>C |
single nucleotide variant |
not provided [RCV002663070] |
Chr5:1213448 [GRCh38] Chr5:1213563 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1334A>G (p.Asp445Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003269324]|not provided [RCV002928153] |
Chr5:1219063 [GRCh38] Chr5:1219178 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.167G>A (p.Trp56Ter) |
single nucleotide variant |
not provided [RCV003100579] |
Chr5:1201817 [GRCh38] Chr5:1201932 [GRCh37] Chr5:5p15.33 |
pathogenic |
NM_001003841.3(SLC6A19):c.1028C>T (p.Thr343Ile) |
single nucleotide variant |
not provided [RCV002735375] |
Chr5:1216800 [GRCh38] Chr5:1216915 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1337T>G (p.Leu446Arg) |
single nucleotide variant |
not provided [RCV002909742] |
Chr5:1219066 [GRCh38] Chr5:1219181 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1128G>A (p.Ala376=) |
single nucleotide variant |
not provided [RCV002621835] |
Chr5:1216900 [GRCh38] Chr5:1217015 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.495G>C (p.Glu165Asp) |
single nucleotide variant |
not provided [RCV002690719] |
Chr5:1212316 [GRCh38] Chr5:1212431 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1528G>A (p.Gly510Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003000494] |
Chr5:1219654 [GRCh38] Chr5:1219769 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.942G>A (p.Ser314=) |
single nucleotide variant |
not provided [RCV002795671] |
Chr5:1216612 [GRCh38] Chr5:1216727 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.922A>G (p.Ile308Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002693351]|Neutral 1 amino acid transport defect [RCV005036620]|not provided [RCV005099088] |
Chr5:1216592 [GRCh38] Chr5:1216707 [GRCh37] Chr5:5p15.33 |
likely benign|uncertain significance |
NM_001003841.3(SLC6A19):c.976G>A (p.Gly326Arg) |
single nucleotide variant |
not provided [RCV002824687] |
Chr5:1216646 [GRCh38] Chr5:1216761 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.454G>A (p.Asp152Asn) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005032295]|not provided [RCV002569585] |
Chr5:1210554 [GRCh38] Chr5:1210669 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1538+17G>A |
single nucleotide variant |
not provided [RCV002590347] |
Chr5:1219681 [GRCh38] Chr5:1219796 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1297_1300del (p.Phe433fs) |
deletion |
not provided [RCV003018229] |
Chr5:1219024..1219027 [GRCh38] Chr5:1219139..1219142 [GRCh37] Chr5:5p15.33 |
pathogenic |
NM_001003841.3(SLC6A19):c.887+11G>A |
single nucleotide variant |
not provided [RCV002846441] |
Chr5:1214076 [GRCh38] Chr5:1214191 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.738C>T (p.Gly246=) |
single nucleotide variant |
SLC6A19-related disorder [RCV003946305]|not provided [RCV002619851] |
Chr5:1213537 [GRCh38] Chr5:1213652 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.373G>A (p.Val125Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002707118]|Neutral 1 amino acid transport defect [RCV005045389] |
Chr5:1210473 [GRCh38] Chr5:1210588 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.719G>C (p.Arg240Pro) |
single nucleotide variant |
not provided [RCV002590479] |
Chr5:1213518 [GRCh38] Chr5:1213633 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1271T>C (p.Leu424Pro) |
single nucleotide variant |
not provided [RCV002626150] |
Chr5:1219000 [GRCh38] Chr5:1219115 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1341_1342del (p.Arg447fs) |
microsatellite |
not provided [RCV002985727] |
Chr5:1219068..1219069 [GRCh38] Chr5:1219183..1219184 [GRCh37] Chr5:5p15.33 |
pathogenic |
NM_001003841.3(SLC6A19):c.823G>C (p.Val275Leu) |
single nucleotide variant |
not provided [RCV003085314] |
Chr5:1214001 [GRCh38] Chr5:1214116 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.373G>T (p.Val125Leu) |
single nucleotide variant |
not provided [RCV002666968] |
Chr5:1210473 [GRCh38] Chr5:1210588 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1855C>T (p.Leu619=) |
single nucleotide variant |
not provided [RCV002790579] |
Chr5:1221854 [GRCh38] Chr5:1221969 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1860G>A (p.Val620=) |
single nucleotide variant |
not provided [RCV002875821] |
Chr5:1221859 [GRCh38] Chr5:1221974 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.175C>T (p.Pro59Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002830454] |
Chr5:1201825 [GRCh38] Chr5:1201940 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.26C>T (p.Pro9Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002804878] |
Chr5:1201676 [GRCh38] Chr5:1201791 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.811G>A (p.Ala271Thr) |
single nucleotide variant |
not provided [RCV002595262] |
Chr5:1213989 [GRCh38] Chr5:1214104 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1174-6G>A |
single nucleotide variant |
not provided [RCV002643830] |
Chr5:1218897 [GRCh38] Chr5:1219012 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.216C>G (p.Ile72Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004966129]|not provided [RCV002828236] |
Chr5:1208759 [GRCh38] Chr5:1208874 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.482-5C>A |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005042862]|not provided [RCV002572401] |
Chr5:1212298 [GRCh38] Chr5:1212413 [GRCh37] Chr5:5p15.33 |
likely benign|uncertain significance |
NM_001003841.3(SLC6A19):c.1187C>T (p.Thr396Ile) |
single nucleotide variant |
not provided [RCV002711182] |
Chr5:1218916 [GRCh38] Chr5:1219031 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.73G>A (p.Glu25Lys) |
single nucleotide variant |
not provided [RCV002982206] |
Chr5:1201723 [GRCh38] Chr5:1201838 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1344C>T (p.Val448=) |
single nucleotide variant |
not provided [RCV003057640] |
Chr5:1219073 [GRCh38] Chr5:1219188 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1539-17G>A |
single nucleotide variant |
not provided [RCV002643163] |
Chr5:1221134 [GRCh38] Chr5:1221249 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.481+18G>T |
single nucleotide variant |
not provided [RCV002642272] |
Chr5:1210599 [GRCh38] Chr5:1210714 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.739G>T (p.Ala247Ser) |
single nucleotide variant |
not provided [RCV003042045] |
Chr5:1213538 [GRCh38] Chr5:1213653 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.13G>A (p.Val5Met) |
single nucleotide variant |
not provided [RCV002790895] |
Chr5:1201663 [GRCh38] Chr5:1201778 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1449C>T (p.Ser483=) |
single nucleotide variant |
not provided [RCV002852152] |
Chr5:1219575 [GRCh38] Chr5:1219690 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1378+14C>T |
single nucleotide variant |
not provided [RCV002642510] |
Chr5:1219121 [GRCh38] Chr5:1219236 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.71T>C (p.Ile24Thr) |
single nucleotide variant |
not provided [RCV002871977] |
Chr5:1201721 [GRCh38] Chr5:1201836 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.25C>A (p.Pro9Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002956892] |
Chr5:1201675 [GRCh38] Chr5:1201790 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1173+4G>A |
single nucleotide variant |
not provided [RCV002624792] |
Chr5:1216949 [GRCh38] Chr5:1217064 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1566C>T (p.Ile522=) |
single nucleotide variant |
not provided [RCV002572760] |
Chr5:1221178 [GRCh38] Chr5:1221293 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1836G>A (p.Lys612=) |
single nucleotide variant |
not provided [RCV003084471] |
Chr5:1221835 [GRCh38] Chr5:1221950 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1866A>G (p.Thr622=) |
single nucleotide variant |
not provided [RCV002720127] |
Chr5:1221865 [GRCh38] Chr5:1221980 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.982C>T (p.Arg328Cys) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005034497]|not provided [RCV002941926] |
Chr5:1216652 [GRCh38] Chr5:1216767 [GRCh37] Chr5:5p15.33 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001003841.3(SLC6A19):c.1119G>A (p.Ala373=) |
single nucleotide variant |
not provided [RCV003092110] |
Chr5:1216891 [GRCh38] Chr5:1217006 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1111G>A (p.Asp371Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004073190]|not provided [RCV003092109] |
Chr5:1216883 [GRCh38] Chr5:1216998 [GRCh37] Chr5:5p15.33 |
likely benign|uncertain significance |
NM_001003841.3(SLC6A19):c.70A>G (p.Ile24Val) |
single nucleotide variant |
not provided [RCV002966834] |
Chr5:1201720 [GRCh38] Chr5:1201835 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.663+15C>T |
single nucleotide variant |
not provided [RCV002676635] |
Chr5:1212499 [GRCh38] Chr5:1212614 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.879C>T (p.Asn293=) |
single nucleotide variant |
not provided [RCV002581278] |
Chr5:1214057 [GRCh38] Chr5:1214172 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.850G>A (p.Gly284Arg) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005034829]|not provided [RCV002651874] |
Chr5:1214028 [GRCh38] Chr5:1214143 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
NM_001003841.3(SLC6A19):c.1501G>A (p.Glu501Lys) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005034830]|not provided [RCV002651875] |
Chr5:1219627 [GRCh38] Chr5:1219742 [GRCh37] Chr5:5p15.33 |
pathogenic|likely pathogenic |
NM_001003841.3(SLC6A19):c.664-14C>T |
single nucleotide variant |
not provided [RCV002671006] |
Chr5:1213449 [GRCh38] Chr5:1213564 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.934T>C (p.Phe312Leu) |
single nucleotide variant |
not provided [RCV003088491] |
Chr5:1216604 [GRCh38] Chr5:1216719 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.289C>A (p.Arg97=) |
single nucleotide variant |
not provided [RCV002581347] |
Chr5:1208832 [GRCh38] Chr5:1208947 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1887C>T (p.Asn629=) |
single nucleotide variant |
not provided [RCV002598505] |
Chr5:1221886 [GRCh38] Chr5:1222001 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.773A>T (p.Asn258Ile) |
single nucleotide variant |
not provided [RCV002834565] |
Chr5:1213572 [GRCh38] Chr5:1213687 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.24C>A (p.Asn8Lys) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005034750]|not provided [RCV002599905] |
Chr5:1201674 [GRCh38] Chr5:1201789 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.270C>T (p.Phe90=) |
single nucleotide variant |
not provided [RCV002576858] |
Chr5:1208813 [GRCh38] Chr5:1208928 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1422G>A (p.Thr474=) |
single nucleotide variant |
not provided [RCV002599915] |
Chr5:1219548 [GRCh38] Chr5:1219663 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1898A>C (p.Lys633Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004965926]|not provided [RCV002577996] |
Chr5:1221897 [GRCh38] Chr5:1222012 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.79G>C (p.Glu27Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002855094] |
Chr5:1201729 [GRCh38] Chr5:1201844 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.909G>A (p.Ser303=) |
single nucleotide variant |
not provided [RCV003061004] |
Chr5:1216579 [GRCh38] Chr5:1216694 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.720A>C (p.Arg240=) |
single nucleotide variant |
not provided [RCV003028381] |
Chr5:1213519 [GRCh38] Chr5:1213634 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1845C>A (p.Asp615Glu) |
single nucleotide variant |
not provided [RCV002631690] |
Chr5:1221844 [GRCh38] Chr5:1221959 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.203-10C>T |
single nucleotide variant |
not provided [RCV002900525] |
Chr5:1208736 [GRCh38] Chr5:1208851 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.97C>A (p.Pro33Thr) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005034550]|not provided [RCV002988725] |
Chr5:1201747 [GRCh38] Chr5:1201862 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1017-19G>C |
single nucleotide variant |
not provided [RCV002811594] |
Chr5:1216770 [GRCh38] Chr5:1216885 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1453C>T (p.Leu485=) |
single nucleotide variant |
not provided [RCV002933905] |
Chr5:1219579 [GRCh38] Chr5:1219694 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.958G>A (p.Val320Met) |
single nucleotide variant |
not provided [RCV002628307] |
Chr5:1216628 [GRCh38] Chr5:1216743 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.774+19C>T |
single nucleotide variant |
not provided [RCV002630095] |
Chr5:1213592 [GRCh38] Chr5:1213707 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1051C>T (p.Pro351Ser) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005034791]|not provided [RCV002647372] |
Chr5:1216823 [GRCh38] Chr5:1216938 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.696C>T (p.Val232=) |
single nucleotide variant |
not provided [RCV003091807] |
Chr5:1213495 [GRCh38] Chr5:1213610 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.37G>A (p.Ala13Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002597570]|Neutral 1 amino acid transport defect [RCV005032334]|not provided [RCV002597569] |
Chr5:1201687 [GRCh38] Chr5:1201802 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1711C>T (p.Pro571Ser) |
single nucleotide variant |
not provided [RCV002720590] |
Chr5:1221710 [GRCh38] Chr5:1221825 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.543C>T (p.Leu181=) |
single nucleotide variant |
not provided [RCV002647164] |
Chr5:1212364 [GRCh38] Chr5:1212479 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.753C>T (p.Ile251=) |
single nucleotide variant |
not provided [RCV002581615] |
Chr5:1213552 [GRCh38] Chr5:1213667 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1045G>A (p.Asp349Asn) |
single nucleotide variant |
not provided [RCV002629228] |
Chr5:1216817 [GRCh38] Chr5:1216932 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.344-18G>T |
single nucleotide variant |
not provided [RCV003008369] |
Chr5:1210426 [GRCh38] Chr5:1210541 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.664-12C>T |
single nucleotide variant |
not provided [RCV002583951] |
Chr5:1213451 [GRCh38] Chr5:1213566 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1701+19G>A |
single nucleotide variant |
not provided [RCV002603804] |
Chr5:1221332 [GRCh38] Chr5:1221447 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1240C>G (p.Pro414Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004966476] |
Chr5:1218969 [GRCh38] Chr5:1219084 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1558T>C (p.Phe520Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004966478] |
Chr5:1221170 [GRCh38] Chr5:1221285 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1173+13C>T |
single nucleotide variant |
not provided [RCV002584445] |
Chr5:1216958 [GRCh38] Chr5:1217073 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1538+11C>T |
single nucleotide variant |
not provided [RCV002583454] |
Chr5:1219675 [GRCh38] Chr5:1219790 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1315G>A (p.Val439Ile) |
single nucleotide variant |
not provided [RCV002634326] |
Chr5:1219044 [GRCh38] Chr5:1219159 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.29G>A (p.Gly10Asp) |
single nucleotide variant |
not provided [RCV002582975] |
Chr5:1201679 [GRCh38] Chr5:1201794 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1017-5C>T |
single nucleotide variant |
not provided [RCV003072445] |
Chr5:1216784 [GRCh38] Chr5:1216899 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.775-17G>T |
single nucleotide variant |
not provided [RCV002609155] |
Chr5:1213936 [GRCh38] Chr5:1214051 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.648C>T (p.Ile216=) |
single nucleotide variant |
not provided [RCV002586649] |
Chr5:1212469 [GRCh38] Chr5:1212584 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.628A>G (p.Met210Val) |
single nucleotide variant |
not provided [RCV002608366] |
Chr5:1212449 [GRCh38] Chr5:1212564 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.565G>A (p.Asp189Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV005281326]|not provided [RCV002587836] |
Chr5:1212386 [GRCh38] Chr5:1212501 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1232C>T (p.Pro411Leu) |
single nucleotide variant |
not provided [RCV002586110] |
Chr5:1218961 [GRCh38] Chr5:1219076 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1883T>C (p.Met628Thr) |
single nucleotide variant |
not provided [RCV002942598] |
Chr5:1221882 [GRCh38] Chr5:1221997 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.40C>T (p.Arg14Trp) |
single nucleotide variant |
not provided [RCV003072207] |
Chr5:1201690 [GRCh38] Chr5:1201805 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1118C>T (p.Ala373Val) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005032322]|not provided [RCV002587265] |
Chr5:1216890 [GRCh38] Chr5:1217005 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.132C>T (p.Thr44=) |
single nucleotide variant |
not provided [RCV003072214] |
Chr5:1201782 [GRCh38] Chr5:1201897 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1539G>C (p.Arg513Ser) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005034353]|not provided [RCV002658216] |
Chr5:1221151 [GRCh38] Chr5:1221266 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1680C>T (p.Tyr560=) |
single nucleotide variant |
not provided [RCV002585602] |
Chr5:1221292 [GRCh38] Chr5:1221407 [GRCh37] Chr5:5p15.33 |
likely benign|uncertain significance |
NM_001003841.3(SLC6A19):c.1353G>A (p.Pro451=) |
single nucleotide variant |
not provided [RCV002608957] |
Chr5:1219082 [GRCh38] Chr5:1219197 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.289C>T (p.Arg97Trp) |
single nucleotide variant |
not provided [RCV002609106] |
Chr5:1208832 [GRCh38] Chr5:1208947 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1039G>A (p.Gly347Arg) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005034623]|not provided [RCV003051231] |
Chr5:1216811 [GRCh38] Chr5:1216926 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.780G>A (p.Thr260=) |
single nucleotide variant |
not provided [RCV002588906] |
Chr5:1213958 [GRCh38] Chr5:1214073 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.658G>C (p.Gly220Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003348861]|not provided [RCV002587642] |
Chr5:1212479 [GRCh38] Chr5:1212594 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.94C>T (p.Arg32Trp) |
single nucleotide variant |
not provided [RCV002606695] |
Chr5:1201744 [GRCh38] Chr5:1201859 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.117G>T (p.Ala39=) |
single nucleotide variant |
not provided [RCV002586085] |
Chr5:1201767 [GRCh38] Chr5:1201882 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.271G>A (p.Ala91Thr) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005032329]|not provided [RCV002589889] |
Chr5:1208814 [GRCh38] Chr5:1208929 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.116C>T (p.Ala39Val) |
single nucleotide variant |
not provided [RCV004792879] |
Chr5:1201766 [GRCh38] Chr5:1201881 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.994C>T (p.Arg332Cys) |
single nucleotide variant |
not provided [RCV004792880] |
Chr5:1216664 [GRCh38] Chr5:1216779 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.302T>A (p.Leu101Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003211445] |
Chr5:1208845 [GRCh38] Chr5:1208960 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1555G>A (p.Glu519Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003201922] |
Chr5:1221167 [GRCh38] Chr5:1221282 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1159G>A (p.Ala387Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003192825] |
Chr5:1216931 [GRCh38] Chr5:1217046 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1169C>G (p.Ser390Ter) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV003226087] |
Chr5:1216941 [GRCh38] Chr5:1217056 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1 |
copy number loss |
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [RCV003327718] |
Chr5:9999..14320000 [GRCh38] Chr5:5p15.33-15.2 |
pathogenic |
NM_001003841.3(SLC6A19):c.774+2T>G |
single nucleotide variant |
Hyperglycinuria [RCV003337756] |
Chr5:1213575 [GRCh38] Chr5:1213690 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
NM_001003841.3(SLC6A19):c.1228A>G (p.Met410Val) |
single nucleotide variant |
Hyperglycinuria [RCV003340683] |
Chr5:1218957 [GRCh38] Chr5:1219072 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.13G>C (p.Val5Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003345870] |
Chr5:1201663 [GRCh38] Chr5:1201778 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1130A>C (p.Gln377Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003384033] |
Chr5:1216902 [GRCh38] Chr5:1217017 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.56C>T (p.Ala19Val) |
single nucleotide variant |
not provided [RCV003457426] |
Chr5:1201706 [GRCh38] Chr5:1201821 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1 |
copy number loss |
not provided [RCV003485447] |
Chr5:113577..35613146 [GRCh37] Chr5:5p15.33-13.2 |
pathogenic |
GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1 |
copy number loss |
not provided [RCV003485448] |
Chr5:113577..11095056 [GRCh37] Chr5:5p15.33-15.2 |
pathogenic |
GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1 |
copy number loss |
not provided [RCV003485450] |
Chr5:113577..21529653 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1 |
copy number loss |
not provided [RCV003485453] |
Chr5:862398..18927500 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
NM_001003841.3(SLC6A19):c.482-6C>T |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005038612]|not provided [RCV003874188] |
Chr5:1212297 [GRCh38] Chr5:1212412 [GRCh37] Chr5:5p15.33 |
likely benign|uncertain significance |
NM_001003841.3(SLC6A19):c.1174-14T>C |
single nucleotide variant |
not provided [RCV003570176] |
Chr5:1218889 [GRCh38] Chr5:1219004 [GRCh37] Chr5:5p15.33 |
likely benign |
GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1 |
copy number loss |
not provided [RCV003485449] |
Chr5:113577..30529044 [GRCh37] Chr5:5p15.33-13.3 |
pathogenic |
GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3 |
copy number gain |
not provided [RCV003484599] |
Chr5:113577..27800913 [GRCh37] Chr5:5p15.33-14.1 |
pathogenic |
NM_001003841.3(SLC6A19):c.1016+32G>A |
single nucleotide variant |
not provided [RCV003435253] |
Chr5:1216718 [GRCh38] Chr5:1216833 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.83A>T (p.Glu28Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004374324]|not provided [RCV003740126] |
Chr5:1201733 [GRCh38] Chr5:1201848 [GRCh37] Chr5:5p15.33 |
likely benign|uncertain significance |
NM_001003841.3(SLC6A19):c.1539-10G>T |
single nucleotide variant |
not provided [RCV003691133] |
Chr5:1221141 [GRCh38] Chr5:1221256 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1116C>T (p.Pro372=) |
single nucleotide variant |
not provided [RCV003830255] |
Chr5:1216888 [GRCh38] Chr5:1217003 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.664-1G>A |
single nucleotide variant |
not provided [RCV003831223] |
Chr5:1213462 [GRCh38] Chr5:1213577 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
NM_001003841.3(SLC6A19):c.318C>T (p.Ser106=) |
single nucleotide variant |
not provided [RCV003576867] |
Chr5:1208861 [GRCh38] Chr5:1208976 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.717C>A (p.Ile239=) |
single nucleotide variant |
not provided [RCV003876983] |
Chr5:1213516 [GRCh38] Chr5:1213631 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1279C>T (p.Leu427=) |
single nucleotide variant |
not provided [RCV003712996] |
Chr5:1219008 [GRCh38] Chr5:1219123 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.203-4G>T |
single nucleotide variant |
not provided [RCV003689626] |
Chr5:1208742 [GRCh38] Chr5:1208857 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1479C>A (p.Pro493=) |
single nucleotide variant |
not provided [RCV003572873] |
Chr5:1219605 [GRCh38] Chr5:1219720 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1867C>T (p.Leu623=) |
single nucleotide variant |
not provided [RCV003545378] |
Chr5:1221866 [GRCh38] Chr5:1221981 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1174-7C>T |
single nucleotide variant |
not provided [RCV003663900] |
Chr5:1218896 [GRCh38] Chr5:1219011 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.837C>T (p.Phe279=) |
single nucleotide variant |
not provided [RCV003851462] |
Chr5:1214015 [GRCh38] Chr5:1214130 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1379G>T (p.Gly460Val) |
single nucleotide variant |
not provided [RCV003718084] |
Chr5:1219505 [GRCh38] Chr5:1219620 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.939A>T (p.Thr313=) |
single nucleotide variant |
not provided [RCV003835867] |
Chr5:1216609 [GRCh38] Chr5:1216724 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.969C>T (p.Ser323=) |
single nucleotide variant |
not provided [RCV003717675] |
Chr5:1216639 [GRCh38] Chr5:1216754 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1038C>T (p.Asn346=) |
single nucleotide variant |
not provided [RCV003558918] |
Chr5:1216810 [GRCh38] Chr5:1216925 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1122C>A (p.Ala374=) |
single nucleotide variant |
not provided [RCV003814385] |
Chr5:1216894 [GRCh38] Chr5:1217009 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1378+5G>A |
single nucleotide variant |
not provided [RCV003731759] |
Chr5:1219112 [GRCh38] Chr5:1219227 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1683C>A (p.Ser561Arg) |
single nucleotide variant |
not provided [RCV003680683] |
Chr5:1221295 [GRCh38] Chr5:1221410 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1 |
copy number loss |
not specified [RCV003986544] |
Chr5:113576..28300709 [GRCh37] Chr5:5p15.33-14.1 |
pathogenic |
NM_001003841.3(SLC6A19):c.344-16A>G |
single nucleotide variant |
not provided [RCV003819952] |
Chr5:1210428 [GRCh38] Chr5:1210543 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1467C>T (p.Ala489=) |
single nucleotide variant |
not provided [RCV003736039] |
Chr5:1219593 [GRCh38] Chr5:1219708 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.672C>T (p.Tyr224=) |
single nucleotide variant |
not provided [RCV003556560] |
Chr5:1213471 [GRCh38] Chr5:1213586 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1728C>T (p.Ile576=) |
single nucleotide variant |
not provided [RCV003721544] |
Chr5:1221727 [GRCh38] Chr5:1221842 [GRCh37] Chr5:5p15.33 |
likely benign |
GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1 |
copy number loss |
not specified [RCV003986589] |
Chr5:113576..17511896 [GRCh37] Chr5:5p15.33-15.1 |
pathogenic |
GRCh37/hg19 5p15.33-15.31(chr5:113576-7436985)x1 |
copy number loss |
not specified [RCV003986597] |
Chr5:113576..7436985 [GRCh37] Chr5:5p15.33-15.31 |
pathogenic |
NM_001003841.3(SLC6A19):c.202+19G>C |
single nucleotide variant |
not provided [RCV003683710] |
Chr5:1201871 [GRCh38] Chr5:1201986 [GRCh37] Chr5:5p15.33 |
likely benign |
GRCh37/hg19 5p15.33(chr5:113576-3612214)x1 |
copy number loss |
not specified [RCV003986564] |
Chr5:113576..3612214 [GRCh37] Chr5:5p15.33 |
pathogenic |
NM_001003841.3(SLC6A19):c.1702-3C>T |
single nucleotide variant |
SLC6A19-related disorder [RCV003941483] |
Chr5:1221698 [GRCh38] Chr5:1221813 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1737G>T (p.Pro579=) |
single nucleotide variant |
not provided [RCV003732737] |
Chr5:1221736 [GRCh38] Chr5:1221851 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.887+16G>A |
single nucleotide variant |
not provided [RCV003821164] |
Chr5:1214081 [GRCh38] Chr5:1214196 [GRCh37] Chr5:5p15.33 |
likely benign |
GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1 |
copy number loss |
not specified [RCV003986599] |
Chr5:113576..10835556 [GRCh37] Chr5:5p15.33-15.2 |
pathogenic |
GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1 |
copy number loss |
not specified [RCV003986560] |
Chr5:113576..26534253 [GRCh37] Chr5:5p15.33-14.1 |
pathogenic |
NM_001003841.3(SLC6A19):c.775-10T>C |
single nucleotide variant |
not provided [RCV003866751] |
Chr5:1213943 [GRCh38] Chr5:1214058 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.664-5C>T |
single nucleotide variant |
SLC6A19-related disorder [RCV003948989]|not provided [RCV003729333] |
Chr5:1213458 [GRCh38] Chr5:1213573 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.774+9C>T |
single nucleotide variant |
not provided [RCV003676868] |
Chr5:1213582 [GRCh38] Chr5:1213697 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.786G>A (p.Leu262=) |
single nucleotide variant |
not provided [RCV003678130] |
Chr5:1213964 [GRCh38] Chr5:1214079 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1149C>T (p.Cys383=) |
single nucleotide variant |
not provided [RCV003859680] |
Chr5:1216921 [GRCh38] Chr5:1217036 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1107C>G (p.Ala369=) |
single nucleotide variant |
not provided [RCV003729713] |
Chr5:1216879 [GRCh38] Chr5:1216994 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1455G>A (p.Leu485=) |
single nucleotide variant |
not provided [RCV003678432] |
Chr5:1219581 [GRCh38] Chr5:1219696 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.204A>G (p.Gly68=) |
single nucleotide variant |
not provided [RCV003705506] |
Chr5:1208747 [GRCh38] Chr5:1208862 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1833G>A (p.Gln611=) |
single nucleotide variant |
not provided [RCV003680613] |
Chr5:1221832 [GRCh38] Chr5:1221947 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.888-9C>T |
single nucleotide variant |
not provided [RCV003858789] |
Chr5:1216549 [GRCh38] Chr5:1216664 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1113C>T (p.Asp371=) |
single nucleotide variant |
not provided [RCV003550754] |
Chr5:1216885 [GRCh38] Chr5:1217000 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1539G>T (p.Arg513Ser) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV003991899] |
Chr5:1221151 [GRCh38] Chr5:1221266 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3 |
copy number gain |
not provided [RCV004442822] |
Chr5:113577..31773283 [GRCh37] Chr5:5p15.33-13.3 |
pathogenic |
NC_000005.9:g.(?_1201709)_(1225227_?)dup |
duplication |
not specified [RCV003988435] |
Chr5:1201709..1225227 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.595C>T (p.Leu199=) |
single nucleotide variant |
SLC6A19-related disorder [RCV003981739]|not provided [RCV005103086] |
Chr5:1212416 [GRCh38] Chr5:1212531 [GRCh37] Chr5:5p15.33 |
likely benign |
GRCh37/hg19 5p15.33-15.2(chr5:113577-13341742)x1 |
copy number loss |
not provided [RCV004442820] |
Chr5:113577..13341742 [GRCh37] Chr5:5p15.33-15.2 |
pathogenic |
NM_001003841.3(SLC6A19):c.67A>G (p.Thr23Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004464293] |
Chr5:1201717 [GRCh38] Chr5:1201832 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1036A>G (p.Asn346Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004464290] |
Chr5:1216808 [GRCh38] Chr5:1216923 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NC_000005.9:g.(?_1201766)_(1258794_?)dup |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV004580506] |
Chr5:1201766..1258794 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NC_000005.9:g.(?_893114)_(1272415_?)dup |
duplication |
Dyskeratosis congenita, autosomal dominant 2 [RCV004580507] |
Chr5:893114..1272415 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1173+2T>C |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV004702886]|not provided [RCV005059767] |
Chr5:1216947 [GRCh38] Chr5:1217062 [GRCh37] Chr5:5p15.33 |
pathogenic|likely pathogenic |
NM_001003841.3(SLC6A19):c.1734C>T (p.Tyr578=) |
single nucleotide variant |
SLC6A19-related disorder [RCV004756821] |
Chr5:1221733 [GRCh38] Chr5:1221848 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.711C>A (p.Phe237Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004966479] |
Chr5:1213510 [GRCh38] Chr5:1213625 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.643G>A (p.Gly215Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004966474] |
Chr5:1212464 [GRCh38] Chr5:1212579 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.131C>A (p.Thr44Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004966475] |
Chr5:1201781 [GRCh38] Chr5:1201896 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1355A>C (p.Lys452Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004966477] |
Chr5:1219084 [GRCh38] Chr5:1219199 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1513G>A (p.Val505Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004966480] |
Chr5:1219639 [GRCh38] Chr5:1219754 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1901A>G (p.Tyr634Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004966481] |
Chr5:1221900 [GRCh38] Chr5:1222015 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.3G>T (p.Met1Ile) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033194] |
Chr5:1201653 [GRCh38] Chr5:1201768 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.95G>C (p.Arg32Pro) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033196]|not provided [RCV005112868] |
Chr5:1201745 [GRCh38] Chr5:1201860 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.307G>A (p.Val103Met) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033198] |
Chr5:1208850 [GRCh38] Chr5:1208965 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1106C>A (p.Ala369Asp) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033224] |
Chr5:1216878 [GRCh38] Chr5:1216993 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1190G>A (p.Gly397Asp) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033226] |
Chr5:1218919 [GRCh38] Chr5:1219034 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.888-16C>G |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033218] |
Chr5:1216542 [GRCh38] Chr5:1216657 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.834dup (p.Phe279fs) |
duplication |
Neutral 1 amino acid transport defect [RCV005033217] |
Chr5:1214010..1214011 [GRCh38] Chr5:1214125..1214126 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
NM_001003841.3(SLC6A19):c.814G>A (p.Gly272Ser) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033216] |
Chr5:1213992 [GRCh38] Chr5:1214107 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.728C>G (p.Thr243Arg) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033213] |
Chr5:1213527 [GRCh38] Chr5:1213642 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.523T>C (p.Phe175Leu) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033202] |
Chr5:1212344 [GRCh38] Chr5:1212459 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.482G>T (p.Gly161Val) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033200] |
Chr5:1212303 [GRCh38] Chr5:1212418 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.626A>C (p.Tyr209Ser) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033206] |
Chr5:1212447 [GRCh38] Chr5:1212562 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.658G>A (p.Gly220Arg) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033208] |
Chr5:1212479 [GRCh38] Chr5:1212594 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.509C>G (p.Ser170Cys) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033201] |
Chr5:1212330 [GRCh38] Chr5:1212445 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1653G>A (p.Val551=) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033244] |
Chr5:1221265 [GRCh38] Chr5:1221380 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1017-5C>G |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033222] |
Chr5:1216784 [GRCh38] Chr5:1216899 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1190G>T (p.Gly397Val) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033227] |
Chr5:1218919 [GRCh38] Chr5:1219034 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1424T>A (p.Leu475Gln) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033235] |
Chr5:1219550 [GRCh38] Chr5:1219665 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1472C>T (p.Ser491Phe) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033237] |
Chr5:1219598 [GRCh38] Chr5:1219713 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1539G>A (p.Arg513=) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033239] |
Chr5:1221151 [GRCh38] Chr5:1221266 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.218C>T (p.Pro73Leu) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005043108] |
Chr5:1208761 [GRCh38] Chr5:1208876 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.522C>A (p.Tyr174Ter) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005043113] |
Chr5:1212343 [GRCh38] Chr5:1212458 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
NM_001003841.3(SLC6A19):c.1191C>T (p.Gly397=) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005043125]|not provided [RCV005063302] |
Chr5:1218920 [GRCh38] Chr5:1219035 [GRCh37] Chr5:5p15.33 |
likely benign|uncertain significance |
NM_001003841.3(SLC6A19):c.1406T>C (p.Ile469Thr) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005043127] |
Chr5:1219532 [GRCh38] Chr5:1219647 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1435C>T (p.Gln479Ter) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005043128] |
Chr5:1219561 [GRCh38] Chr5:1219676 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
NM_001003841.3(SLC6A19):c.1589G>A (p.Trp530Ter) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005043130] |
Chr5:1221201 [GRCh38] Chr5:1221316 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
NM_001003841.3(SLC6A19):c.*16G>A |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005043134] |
Chr5:1221920 [GRCh38] Chr5:1222035 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1491C>T (p.Ile497=) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033238] |
Chr5:1219617 [GRCh38] Chr5:1219732 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1553T>C (p.Ile518Thr) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033240] |
Chr5:1221165 [GRCh38] Chr5:1221280 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1693C>T (p.Pro565Ser) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033246] |
Chr5:1221305 [GRCh38] Chr5:1221420 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1702G>T (p.Glu568Ter) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033248] |
Chr5:1221701 [GRCh38] Chr5:1221816 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
NM_001003841.3(SLC6A19):c.1736C>T (p.Pro579Leu) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033249] |
Chr5:1221735 [GRCh38] Chr5:1221850 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
NM_001003841.3(SLC6A19):c.1802C>T (p.Ala601Val) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033250] |
Chr5:1221801 [GRCh38] Chr5:1221916 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.794C>T (p.Pro265Leu) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033215] |
Chr5:1213972 [GRCh38] Chr5:1214087 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.773A>G (p.Asn258Ser) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033214] |
Chr5:1213572 [GRCh38] Chr5:1213687 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.690C>G (p.Pro230=) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033211] |
Chr5:1213489 [GRCh38] Chr5:1213604 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.682A>T (p.Thr228Ser) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033210] |
Chr5:1213481 [GRCh38] Chr5:1213596 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.667G>A (p.Val223Met) |
single nucleotide variant |
Inborn genetic diseases [RCV005283571]|Neutral 1 amino acid transport defect [RCV005033209] |
Chr5:1213466 [GRCh38] Chr5:1213581 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.649G>A (p.Glu217Lys) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033207] |
Chr5:1212470 [GRCh38] Chr5:1212585 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.609_610insA (p.Ala204fs) |
insertion |
Neutral 1 amino acid transport defect [RCV005033204] |
Chr5:1212430..1212431 [GRCh38] Chr5:1212545..1212546 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
NM_001003841.3(SLC6A19):c.574T>C (p.Ser192Pro) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033203] |
Chr5:1212395 [GRCh38] Chr5:1212510 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1125C>G (p.Tyr375Ter) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005043121] |
Chr5:1216897 [GRCh38] Chr5:1217012 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
NM_001003841.3(SLC6A19):c.1164C>G (p.Phe388Leu) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005043122] |
Chr5:1216936 [GRCh38] Chr5:1217051 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1174-16T>A |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005043123] |
Chr5:1218887 [GRCh38] Chr5:1219002 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.344-12G>A |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033199] |
Chr5:1210432 [GRCh38] Chr5:1210547 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1693C>G (p.Pro565Ala) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033245] |
Chr5:1221305 [GRCh38] Chr5:1221420 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1105G>A (p.Ala369Thr) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033223]|not provided [RCV005112869] |
Chr5:1216877 [GRCh38] Chr5:1216992 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1201A>T (p.Ile401Phe) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033228] |
Chr5:1218930 [GRCh38] Chr5:1219045 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1346T>A (p.Ile449Asn) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033232] |
Chr5:1219075 [GRCh38] Chr5:1219190 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1451T>A (p.Leu484Gln) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033236] |
Chr5:1219577 [GRCh38] Chr5:1219692 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1598C>T (p.Thr533Met) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033241] |
Chr5:1221210 [GRCh38] Chr5:1221325 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.962T>C (p.Val321Ala) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033219] |
Chr5:1216632 [GRCh38] Chr5:1216747 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.625T>A (p.Tyr209Asn) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033205] |
Chr5:1212446 [GRCh38] Chr5:1212561 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1651G>C (p.Val551Leu) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033243] |
Chr5:1221263 [GRCh38] Chr5:1221378 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1602G>A (p.Trp534Ter) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033242] |
Chr5:1221214 [GRCh38] Chr5:1221329 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
NM_001003841.3(SLC6A19):c.774+1G>C |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005043117] |
Chr5:1213574 [GRCh38] Chr5:1213689 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
NM_001003841.3(SLC6A19):c.1522G>C (p.Val508Leu) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005043129] |
Chr5:1219648 [GRCh38] Chr5:1219763 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.124A>G (p.Met42Val) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005043106] |
Chr5:1201774 [GRCh38] Chr5:1201889 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.496T>G (p.Cys166Gly) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005043112] |
Chr5:1212317 [GRCh38] Chr5:1212432 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.719G>A (p.Arg240Gln) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005043115] |
Chr5:1213518 [GRCh38] Chr5:1213633 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1632C>G (p.Ile544Met) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005043132] |
Chr5:1221244 [GRCh38] Chr5:1221359 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1000GAC[1] (p.Asp335del) |
microsatellite |
Neutral 1 amino acid transport defect [RCV005043119] |
Chr5:1216668..1216670 [GRCh38] Chr5:1216783..1216785 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.350C>G (p.Ala117Gly) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005043109] |
Chr5:1210450 [GRCh38] Chr5:1210565 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1319T>C (p.Val440Ala) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005043126] |
Chr5:1219048 [GRCh38] Chr5:1219163 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.481+15G>A |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005043110] |
Chr5:1210596 [GRCh38] Chr5:1210711 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.206C>A (p.Ala69Asp) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005043107] |
Chr5:1208749 [GRCh38] Chr5:1208864 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.730C>A (p.Leu244Met) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005043116] |
Chr5:1213529 [GRCh38] Chr5:1213644 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1601G>A (p.Trp534Ter) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005043131] |
Chr5:1221213 [GRCh38] Chr5:1221328 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
NM_001003841.3(SLC6A19):c.1054G>C (p.Glu352Gln) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005043120] |
Chr5:1216826 [GRCh38] Chr5:1216941 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.663+1G>A |
single nucleotide variant |
not provided [RCV005196882] |
Chr5:1212485 [GRCh38] Chr5:1212600 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
NM_001003841.3(SLC6A19):c.343+12G>A |
single nucleotide variant |
not provided [RCV005067456] |
Chr5:1208898 [GRCh38] Chr5:1209013 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1017-4G>T |
single nucleotide variant |
not provided [RCV005064503] |
Chr5:1216785 [GRCh38] Chr5:1216900 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.587G>A (p.Trp196Ter) |
single nucleotide variant |
not provided [RCV005087226] |
Chr5:1212408 [GRCh38] Chr5:1212523 [GRCh37] Chr5:5p15.33 |
pathogenic |
NM_001003841.3(SLC6A19):c.258G>C (p.Leu86=) |
single nucleotide variant |
not provided [RCV005193288] |
Chr5:1208801 [GRCh38] Chr5:1208916 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1318G>A (p.Val440Ile) |
single nucleotide variant |
not provided [RCV005109367] |
Chr5:1219047 [GRCh38] Chr5:1219162 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.202+12G>T |
single nucleotide variant |
not provided [RCV005076325] |
Chr5:1201864 [GRCh38] Chr5:1201979 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.252C>T (p.Pro84=) |
single nucleotide variant |
not provided [RCV005132508] |
Chr5:1208795 [GRCh38] Chr5:1208910 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1421C>T (p.Thr474Met) |
single nucleotide variant |
not provided [RCV005113094] |
Chr5:1219547 [GRCh38] Chr5:1219662 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.774+11G>A |
single nucleotide variant |
not provided [RCV005074242] |
Chr5:1213584 [GRCh38] Chr5:1213699 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.957C>T (p.Ile319=) |
single nucleotide variant |
not provided [RCV005185087] |
Chr5:1216627 [GRCh38] Chr5:1216742 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1701+16G>A |
single nucleotide variant |
not provided [RCV005071305] |
Chr5:1221329 [GRCh38] Chr5:1221444 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1702-9T>C |
single nucleotide variant |
not provided [RCV005167931] |
Chr5:1221692 [GRCh38] Chr5:1221807 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1200C>T (p.Phe400=) |
single nucleotide variant |
not provided [RCV005074969] |
Chr5:1218929 [GRCh38] Chr5:1219044 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.621C>T (p.Val207=) |
single nucleotide variant |
not provided [RCV005167632] |
Chr5:1212442 [GRCh38] Chr5:1212557 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.795G>A (p.Pro265=) |
single nucleotide variant |
not provided [RCV005078351] |
Chr5:1213973 [GRCh38] Chr5:1214088 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1174-11C>G |
single nucleotide variant |
not provided [RCV005150815] |
Chr5:1218892 [GRCh38] Chr5:1219007 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.666C>T (p.Ala222=) |
single nucleotide variant |
not provided [RCV005186615] |
Chr5:1213465 [GRCh38] Chr5:1213580 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.554C>T (p.Thr185Met) |
single nucleotide variant |
not provided [RCV005185651] |
Chr5:1212375 [GRCh38] Chr5:1212490 [GRCh37] Chr5:5p15.33 |
benign |
NM_001003841.3(SLC6A19):c.1062C>G (p.Asn354Lys) |
single nucleotide variant |
not provided [RCV005083011] |
Chr5:1216834 [GRCh38] Chr5:1216949 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.343+7G>C |
single nucleotide variant |
not provided [RCV005126004] |
Chr5:1208893 [GRCh38] Chr5:1209008 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1611C>T (p.Val537=) |
single nucleotide variant |
not provided [RCV005070493] |
Chr5:1221223 [GRCh38] Chr5:1221338 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1702-10C>G |
single nucleotide variant |
not provided [RCV005183985] |
Chr5:1221691 [GRCh38] Chr5:1221806 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.525C>T (p.Phe175=) |
single nucleotide variant |
not provided [RCV005069429] |
Chr5:1212346 [GRCh38] Chr5:1212461 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.1847A>G (p.His616Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV005275681] |
Chr5:1221846 [GRCh38] Chr5:1221961 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_001003841.3(SLC6A19):c.19C>T (p.Pro7Ser) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005393897] |
Chr5:1201669 [GRCh38] Chr5:1201784 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.767C>A (p.Thr256Lys) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005393898] |
Chr5:1213566 [GRCh38] Chr5:1213681 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.423C>G (p.Phe141Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV005279652] |
Chr5:1210523 [GRCh38] Chr5:1210638 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.931G>C (p.Gly311Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV005279653] |
Chr5:1216601 [GRCh38] Chr5:1216716 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1385T>A (p.Ile462Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV005279654] |
Chr5:1219511 [GRCh38] Chr5:1219626 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1016+1G>A |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005418670] |
Chr5:1216687 [GRCh38] Chr5:1216802 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
NM_001003841.3(SLC6A19):c.1408G>A (p.Gly470Ser) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033234] |
Chr5:1219534 [GRCh38] Chr5:1219649 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1 |
copy number loss |
not specified [RCV003986593] |
Chr5:113576..19388145 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
GRCh37/hg19 5p15.33(chr5:113577-2191119)x1 |
copy number loss |
See cases [RCV004442837] |
Chr5:113577..2191119 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1747T>C (p.Tyr583His) |
single nucleotide variant |
Inborn genetic diseases [RCV004464292] |
Chr5:1221746 [GRCh38] Chr5:1221861 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1273T>G (p.Phe425Val) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033231] |
Chr5:1219002 [GRCh38] Chr5:1219117 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1702-17T>G |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033247] |
Chr5:1221684 [GRCh38] Chr5:1221799 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1900T>C (p.Tyr634His) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033251] |
Chr5:1221899 [GRCh38] Chr5:1222014 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.283C>T (p.Arg95Trp) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033197] |
Chr5:1208826 [GRCh38] Chr5:1208941 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1223C>T (p.Thr408Ile) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033229] |
Chr5:1218952 [GRCh38] Chr5:1219067 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.988A>G (p.Thr330Ala) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033221] |
Chr5:1216658 [GRCh38] Chr5:1216773 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1125C>A (p.Tyr375Ter) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033225] |
Chr5:1216897 [GRCh38] Chr5:1217012 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
NM_001003841.3(SLC6A19):c.1270C>T (p.Leu424Phe) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033230] |
Chr5:1218999 [GRCh38] Chr5:1219114 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_001003841.3(SLC6A19):c.1358G>A (p.Trp453Ter) |
single nucleotide variant |
Neutral 1 amino acid transport defect [RCV005033233] |
Chr5:1219087 [GRCh38] Chr5:1219202 [GRCh37] Chr5:5p15.33 |
likely pathogenic |