SLC6A19 (solute carrier family 6 member 19) - Rat Genome Database

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Gene: SLC6A19 (solute carrier family 6 member 19) Homo sapiens
Analyze
Symbol: SLC6A19
Name: solute carrier family 6 member 19
RGD ID: 1604954
HGNC Page HGNC:27960
Description: Enables neutral L-amino acid transmembrane transporter activity. Predicted to be involved in neutral amino acid transport and sodium ion transmembrane transport. Located in brush border membrane. Implicated in Hartnup disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: B0AT1; broad neutral amino acid transporter 1; FLJ20680; FLJ34635; HND; sodium-dependent amino acid transporter system B0; sodium-dependent neutral amino acid transporter B(0)AT1; solute carrier family 6 (neurotransmitter transporter), member 19; solute carrier family 6 (neutral amino acid transporter), member 19; system B(0) neutral amino acid transporter AT1; system B0 neutral amino acid transporter
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3851,201,595 - 1,225,111 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl51,201,595 - 1,225,111 (+)Ensemblhg38GRCh38
GRCh3751,201,710 - 1,225,226 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3651,254,766 - 1,275,019 (+)NCBIBuild 36Build 36hg18NCBI36
Celera51,238,608 - 1,262,115 (+)NCBICelera
Cytogenetic Map5p15.33NCBI
HuRef51,183,086 - 1,206,530 (+)NCBIHuRef
CHM1_151,198,248 - 1,225,118 (+)NCBICHM1_1
T2T-CHM13v2.051,108,484 - 1,132,085 (+)NCBIT2T-CHM13v2.0
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7876094   PMID:11394870   PMID:14702039   PMID:15044460   PMID:15286787   PMID:15286788   PMID:17555458   PMID:18195088   PMID:18424768   PMID:18484095   PMID:18671945   PMID:19056867  
PMID:19185582   PMID:19322909   PMID:19335424   PMID:20301334   PMID:20399395   PMID:20883558   PMID:21873635   PMID:21964291   PMID:23234856   PMID:23376485   PMID:25086665   PMID:25534429  
PMID:31176687   PMID:32132184   PMID:33064147   PMID:33737693   PMID:34189428   PMID:36057605  


Genomics

Comparative Map Data
SLC6A19
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3851,201,595 - 1,225,111 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl51,201,595 - 1,225,111 (+)Ensemblhg38GRCh38
GRCh3751,201,710 - 1,225,226 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3651,254,766 - 1,275,019 (+)NCBIBuild 36Build 36hg18NCBI36
Celera51,238,608 - 1,262,115 (+)NCBICelera
Cytogenetic Map5p15.33NCBI
HuRef51,183,086 - 1,206,530 (+)NCBIHuRef
CHM1_151,198,248 - 1,225,118 (+)NCBICHM1_1
T2T-CHM13v2.051,108,484 - 1,132,085 (+)NCBIT2T-CHM13v2.0
Slc6a19
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391373,827,864 - 73,848,899 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1373,827,864 - 73,852,984 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm381373,679,745 - 73,700,780 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1373,679,745 - 73,704,865 (-)Ensemblmm10GRCm38
MGSCv371373,818,605 - 73,838,143 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361374,147,159 - 74,166,697 (-)NCBIMGSCv36mm8
Celera1376,010,112 - 76,029,756 (-)NCBICelera
Cytogenetic Map13C1NCBI
cM Map1340.14NCBI
Slc6a19
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8131,414,744 - 31,434,932 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl131,414,744 - 31,433,517 (+)EnsemblGRCr8
mRatBN7.2129,586,191 - 29,604,964 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl129,586,195 - 29,604,962 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx129,387,324 - 29,406,097 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0135,387,174 - 35,405,947 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0129,587,954 - 29,606,725 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0132,199,869 - 32,218,628 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl132,199,810 - 32,220,045 (+)Ensemblrn6Rnor6.0
Rnor_5.0133,624,561 - 33,643,496 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4130,393,331 - 30,412,094 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera128,234,184 - 28,252,964 (+)NCBICelera
Cytogenetic Map1p11NCBI
Slc6a19
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955504616,768 - 633,654 (+)Ensembl
ChiLan1.0NW_004955504617,683 - 633,594 (+)NCBIChiLan1.0ChiLan1.0
SLC6A19
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v241,461,963 - 1,482,056 (+)NCBINHGRI_mPanPan1-v2
PanPan1.1 Ensembl51,248,802 - 1,272,508 (+)EnsemblpanPan2panpan1.1
SLC6A19
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13411,329,126 - 11,344,248 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3411,329,111 - 11,344,293 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha3415,838,998 - 15,854,198 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.03411,229,799 - 11,244,920 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3411,229,784 - 11,244,965 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13411,280,591 - 11,295,588 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03411,260,140 - 11,275,298 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03411,471,162 - 11,486,159 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Slc6a19
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213244,352,755 - 244,371,592 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936815515,762 - 532,917 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_004936815515,928 - 532,877 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC6A19
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1679,293,943 - 79,310,922 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.11679,293,940 - 79,310,922 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21685,952,505 - 85,969,441 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC6A19
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.141,031,236 - 1,053,815 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl41,033,125 - 1,056,843 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366605435,594,889 - 35,615,960 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc6a19
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624751591,754 - 607,693 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_004624751591,846 - 606,362 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC6A19
508 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2463
Count of miRNA genes:907
Interacting mature miRNAs:1074
Transcripts:ENST00000304460, ENST00000515652
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407404568GWAS1053544_Hobsolete_red blood cell distribution width QTL GWAS1053544 (human)6e-16obsolete_red blood cell distribution width512093211209322Human
596954804GWAS1074323_HRed cell distribution width QTL GWAS1074323 (human)6e-16Red cell distribution width512093211209322Human
597141255GWAS1237329_HN-delta-acetylornithine measurement QTL GWAS1237329 (human)1e-15N-delta-acetylornithine measurement512123381212339Human
597096951GWAS1193025_Hprotein measurement QTL GWAS1193025 (human)5e-09protein amount (VT:0010120)512044281204429Human
597218571GWAS1314645_Hcystatin C measurement QTL GWAS1314645 (human)6e-11blood cystatin C amount (VT:0010743)blood cystatin C level (CMO:0002777)512123381212339Human
597046433GWAS1142507_HRed cell distribution width QTL GWAS1142507 (human)6e-16erythrocyte size trait (VT:0000248)red blood cell distribution width- standard deviation (CMO:0003232)512093211209322Human
597323165GWAS1419239_Hmethionine sulfone measurement QTL GWAS1419239 (human)1e-140methionine sulfone measurement512123381212339Human
597318413GWAS1414487_HN-delta-acetylornithine measurement QTL GWAS1414487 (human)2e-35N-delta-acetylornithine measurement512123381212339Human
597323725GWAS1419799_H3-methoxytyrosine measurement QTL GWAS1419799 (human)3e-383-methoxytyrosine measurement512123381212339Human
597126271GWAS1222345_Hrenal carcinoma QTL GWAS1222345 (human)2e-10renal carcinoma512210841221085Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
487 1673 997 800 2022 948 1280 3 452 1044 388 831 3762 2843 1 1556 605 1109 662 67

Sequence


Ensembl Acc Id: ENST00000304460   ⟹   ENSP00000305302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl51,201,595 - 1,225,111 (+)Ensembl
Ensembl Acc Id: ENST00000515652   ⟹   ENSP00000425701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl51,201,595 - 1,223,270 (+)Ensembl
RefSeq Acc Id: NM_001003841   ⟹   NP_001003841
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3851,201,595 - 1,225,111 (+)NCBI
GRCh3751,201,710 - 1,225,232 (+)ENTREZGENE
GRCh3751,201,710 - 1,225,232 (+)NCBI
Build 3651,254,766 - 1,275,019 (+)NCBI Archive
HuRef51,183,086 - 1,206,530 (+)ENTREZGENE
CHM1_151,198,248 - 1,225,118 (+)NCBI
T2T-CHM13v2.051,108,484 - 1,132,085 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054352501   ⟹   XP_054208476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.051,108,484 - 1,131,359 (+)NCBI
RefSeq Acc Id: NP_001003841   ⟸   NM_001003841
- UniProtKB: A8K446 (UniProtKB/Swiss-Prot),   Q695T7 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000305302   ⟸   ENST00000304460
Ensembl Acc Id: ENSP00000425701   ⟸   ENST00000515652
RefSeq Acc Id: XP_054208476   ⟸   XM_054352501
- Peptide Label: isoform X1
- UniProtKB: Q695T7 (UniProtKB/Swiss-Prot),   A8K446 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q695T7-F1-model_v2 AlphaFold Q695T7 1-634 view protein structure

Promoters
RGD ID:6869166
Promoter ID:EPDNEW_H7748
Type:multiple initiation site
Name:SLC6A19_1
Description:solute carrier family 6 member 19
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3851,201,595 - 1,201,655EPDNEW
RGD ID:6803566
Promoter ID:HG_KWN:49713
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_001003841
Position:
Human AssemblyChrPosition (strand)Source
Build 3651,254,271 - 1,254,771 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27960 AgrOrtholog
COSMIC SLC6A19 COSMIC
Ensembl Genes ENSG00000174358 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000304460 ENTREZGENE
  ENST00000304460.11 UniProtKB/Swiss-Prot
GTEx ENSG00000174358 GTEx
HGNC ID HGNC:27960 ENTREZGENE
Human Proteome Map SLC6A19 Human Proteome Map
InterPro Na/ntran_symport UniProtKB/Swiss-Prot
  Neutral_aa_SLC6 UniProtKB/Swiss-Prot
  SNS_sf UniProtKB/Swiss-Prot
KEGG Report hsa:340024 UniProtKB/Swiss-Prot
NCBI Gene 340024 ENTREZGENE
OMIM 608893 OMIM
PANTHER PTHR11616 UniProtKB/Swiss-Prot
  SODIUM-DEPENDENT NEUTRAL AMINO ACID TRANSPORTER B(0)AT1 UniProtKB/Swiss-Prot
Pfam SNF UniProtKB/Swiss-Prot
PharmGKB PA134968815 PharmGKB
PRINTS NANEUSMPORT UniProtKB/Swiss-Prot
  ORPHTRNSPORT UniProtKB/Swiss-Prot
PROSITE NA_NEUROTRAN_SYMP_1 UniProtKB/Swiss-Prot
  NA_NEUROTRAN_SYMP_3 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF161070 UniProtKB/Swiss-Prot
UniProt A8K446 ENTREZGENE
  E9PD72_HUMAN UniProtKB/TrEMBL
  L8E8F7_HUMAN UniProtKB/TrEMBL
  Q695T7 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K446 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC6A19  solute carrier family 6 member 19  SLC6A19  solute carrier family 6 (neutral amino acid transporter), member 19  Symbol and/or name change 5135510 APPROVED