NM_006996.3(SLC19A2):c.725del (p.Pro242fs) |
deletion |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000006320]|not provided [RCV003555937] |
Chr1:169477237 [GRCh38] Chr1:169446475 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.885del (p.Leu296fs) |
deletion |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000006323] |
Chr1:169470109 [GRCh38] Chr1:169439347 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.1148_1149del (p.Val383fs) |
microsatellite |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000006324] |
Chr1:169468718..169468719 [GRCh38] Chr1:169437956..169437957 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.242dup (p.Tyr81Ter) |
duplication |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000006325]|not provided [RCV003555938] |
Chr1:169477719..169477720 [GRCh38] Chr1:169446957..169446958 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.429_430del (p.Ile145fs) |
deletion |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000006326] |
Chr1:169477532..169477533 [GRCh38] Chr1:169446770..169446771 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.484C>T (p.Arg162Ter) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000006319]|not provided [RCV003555936] |
Chr1:169477478 [GRCh38] Chr1:169446716 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000006321]|not provided [RCV000486790] |
Chr1:169477447 [GRCh38] Chr1:169446685 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.750G>A (p.Trp250Ter) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000006322]|not provided [RCV002512828] |
Chr1:169477212 [GRCh38] Chr1:169446450 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.1074G>A (p.Trp358Ter) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000006327] |
Chr1:169468793 [GRCh38] Chr1:169438031 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.152C>T (p.Pro51Leu) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000006328]|not provided [RCV003555939] |
Chr1:169485615 [GRCh38] Chr1:169454853 [GRCh37] Chr1:1q24.2 |
pathogenic|uncertain significance |
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 |
copy number gain |
See cases [RCV000051854] |
Chr1:157747246..176021247 [GRCh38] Chr1:157717036..175990383 [GRCh37] Chr1:155983660..174257006 [NCBI36] Chr1:1q23.1-25.1 |
pathogenic |
GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3 |
copy number gain |
See cases [RCV000051856] |
Chr1:164922655..180061589 [GRCh38] Chr1:164891892..180030724 [GRCh37] Chr1:163158516..178297347 [NCBI36] Chr1:1q23.3-25.2 |
pathogenic |
GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1 |
copy number loss |
See cases [RCV000053918] |
Chr1:168314822..175299299 [GRCh38] Chr1:168284060..175268435 [GRCh37] Chr1:166550684..173535058 [NCBI36] Chr1:1q24.2-25.1 |
pathogenic |
GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1 |
copy number loss |
See cases [RCV000053914] |
Chr1:161740907..173965154 [GRCh38] Chr1:161710697..173934292 [GRCh37] Chr1:159977321..172200915 [NCBI36] Chr1:1q23.3-25.1 |
pathogenic |
GRCh38/hg38 1q23.3-24.3(chr1:164036599-171252077)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053916]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053916]|See cases [RCV000053916] |
Chr1:164036599..171252077 [GRCh38] Chr1:164005836..171221216 [GRCh37] Chr1:162272460..169487840 [NCBI36] Chr1:1q23.3-24.3 |
pathogenic |
GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1 |
copy number loss |
See cases [RCV000053917] |
Chr1:166762832..175327423 [GRCh38] Chr1:166732069..175296559 [GRCh37] Chr1:164998693..173563182 [NCBI36] Chr1:1q24.1-25.1 |
pathogenic |
NM_006996.3(SLC19A2):c.980G>T (p.Arg327Leu) |
single nucleotide variant |
Monogenic diabetes [RCV000664077] |
Chr1:169470014 [GRCh38] Chr1:169439252 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.-4C>T |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000377830]|Thiamine-responsive megaloblastic anemia [RCV000262382]|not provided [RCV004714457]|not specified [RCV000118355] |
Chr1:169485770 [GRCh38] Chr1:169455008 [GRCh37] Chr1:1q24.2 |
benign |
NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000313965]|Thiamine-responsive megaloblastic anemia [RCV000406183]|not provided [RCV000890751]|not specified [RCV000118356] |
Chr1:169468787 [GRCh38] Chr1:169438025 [GRCh37] Chr1:1q24.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006996.3(SLC19A2):c.1215G>A (p.Thr405=) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000356722]|SLC19A2-related disorder [RCV003975044]|Thiamine-responsive megaloblastic anemia [RCV000299527]|not provided [RCV000974872]|not specified [RCV000118357] |
Chr1:169468652 [GRCh38] Chr1:169437890 [GRCh37] Chr1:1q24.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1 |
copy number loss |
See cases [RCV000137128] |
Chr1:169218236..178075834 [GRCh38] Chr1:169187474..178044969 [GRCh37] Chr1:167454098..176311592 [NCBI36] Chr1:1q24.2-25.2 |
pathogenic |
GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1 |
copy number loss |
See cases [RCV000143292] |
Chr1:163382523..175877022 [GRCh38] Chr1:163352313..175846158 [GRCh37] Chr1:161618937..174112781 [NCBI36] Chr1:1q23.3-25.1 |
pathogenic |
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 |
copy number gain |
See cases [RCV000143515] |
Chr1:149854269..180267197 [GRCh38] Chr1:149825831..180236332 [GRCh37] Chr1:148092455..178502955 [NCBI36] Chr1:1q21.2-25.2 |
pathogenic |
GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) |
copy number loss |
not provided [RCV000767779] |
Chr1:160369890..175796325 [GRCh37] Chr1:1q23.2-25.1 |
pathogenic |
NM_006996.3(SLC19A2):c.*638G>A |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000263607]|Thiamine-responsive megaloblastic anemia [RCV000356044] |
Chr1:169465211 [GRCh38] Chr1:169434449 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.796G>A (p.Val266Met) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000272929]|Monogenic diabetes [RCV000445536]|Thiamine-responsive megaloblastic anemia [RCV000325732]|not provided [RCV000894413]|not specified [RCV000440688] |
Chr1:169477166 [GRCh38] Chr1:169446404 [GRCh37] Chr1:1q24.2 |
benign|uncertain significance |
NM_006996.3(SLC19A2):c.561G>T (p.Leu187=) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000336726]|Thiamine-responsive megaloblastic anemia [RCV000284049]|not provided [RCV000899641] |
Chr1:169477401 [GRCh38] Chr1:169446639 [GRCh37] Chr1:1q24.2 |
benign|likely benign|uncertain significance |
NM_006996.3(SLC19A2):c.487A>T (p.Ser163Cys) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000408034]|Thiamine-responsive megaloblastic anemia [RCV000278045]|not provided [RCV001859756] |
Chr1:169477475 [GRCh38] Chr1:169446713 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.795C>T (p.Pro265=) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000285999]|Thiamine-responsive megaloblastic anemia [RCV000382662]|not provided [RCV002059352]|not specified [RCV000441700] |
Chr1:169477167 [GRCh38] Chr1:169446405 [GRCh37] Chr1:1q24.2 |
benign|likely benign|uncertain significance |
NM_006996.3(SLC19A2):c.1436T>C (p.Met479Thr) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000392757]|Thiamine-responsive megaloblastic anemia [RCV000286824]|not provided [RCV002244744] |
Chr1:169465907 [GRCh38] Chr1:169435145 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1486A>G (p.Thr496Ala) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000345246]|Thiamine-responsive megaloblastic anemia [RCV000287472]|not provided [RCV000994163] |
Chr1:169465857 [GRCh38] Chr1:169435095 [GRCh37] Chr1:1q24.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006996.3(SLC19A2):c.807+6C>G |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000365236]|Thiamine-responsive megaloblastic anemia [RCV000331390] |
Chr1:169477149 [GRCh38] Chr1:169446387 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.639G>A (p.Lys213=) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000324690]|Thiamine-responsive megaloblastic anemia [RCV000376986]|not provided [RCV000908709] |
Chr1:169477323 [GRCh38] Chr1:169446561 [GRCh37] Chr1:1q24.2 |
benign|likely benign|uncertain significance |
NM_006996.3(SLC19A2):c.283C>T (p.Leu95Phe) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000335476]|Thiamine-responsive megaloblastic anemia [RCV000404561]|not provided [RCV002519406]|not specified [RCV003151014] |
Chr1:169477679 [GRCh38] Chr1:169446917 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.212A>G (p.Asn71Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002519407]|Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000315438]|Thiamine-responsive megaloblastic anemia [RCV000349355]|not provided [RCV002282114] |
Chr1:169477750 [GRCh38] Chr1:169446988 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000403152]|Thiamine-responsive megaloblastic anemia [RCV000339438]|not provided [RCV000960822]|not specified [RCV000305064] |
Chr1:169468154 [GRCh38] Chr1:169437392 [GRCh37] Chr1:1q24.2 |
benign|likely benign |
NM_006996.3(SLC19A2):c.*1901AATA[1] |
microsatellite |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000268423]|Thiamine-responsive megaloblastic anemia [RCV000362996] |
Chr1:169463941..169463944 [GRCh38] Chr1:169433179..169433182 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.*1524C>T |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000351699]|Thiamine-responsive megaloblastic anemia [RCV000389829]|not provided [RCV001840480] |
Chr1:169464325 [GRCh38] Chr1:169433563 [GRCh37] Chr1:1q24.2 |
benign|likely benign|uncertain significance |
NM_006996.3(SLC19A2):c.-12C>G |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000319771]|Thiamine-responsive megaloblastic anemia [RCV000372263]|not specified [RCV000418534] |
Chr1:169485778 [GRCh38] Chr1:169455016 [GRCh37] Chr1:1q24.2 |
likely benign|uncertain significance |
NM_006996.2(SLC19A2):c.-196C>A |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000344782]|Thiamine-responsive megaloblastic anemia [RCV000306344]|not provided [RCV001568514] |
Chr1:169485962 [GRCh38] Chr1:169455200 [GRCh37] Chr1:1q24.2 |
likely benign|uncertain significance |
NM_006996.3(SLC19A2):c.*1814G>A |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000378252]|Thiamine-responsive megaloblastic anemia [RCV000323548]|not provided [RCV004710728] |
Chr1:169464035 [GRCh38] Chr1:169433273 [GRCh37] Chr1:1q24.2 |
benign|likely benign |
NM_006996.3(SLC19A2):c.*255A>T |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000385689]|Thiamine-responsive megaloblastic anemia [RCV000293447] |
Chr1:169465594 [GRCh38] Chr1:169434832 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.-114C>T |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000293499]|Thiamine-responsive megaloblastic anemia [RCV000385602]|not provided [RCV003409439] |
Chr1:169485880 [GRCh38] Chr1:169455118 [GRCh37] Chr1:1q24.2 |
likely benign|uncertain significance |
NM_006996.3(SLC19A2):c.*967A>G |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000344558]|Thiamine-responsive megaloblastic anemia [RCV000405506]|not provided [RCV004714696] |
Chr1:169464882 [GRCh38] Chr1:169434120 [GRCh37] Chr1:1q24.2 |
benign |
NM_006996.3(SLC19A2):c.*60G>A |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000384179]|Thiamine-responsive megaloblastic anemia [RCV000327336]|not provided [RCV001651334] |
Chr1:169465789 [GRCh38] Chr1:169435027 [GRCh37] Chr1:1q24.2 |
benign |
NM_006996.3(SLC19A2):c.205-25_205-24dup |
duplication |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000366500]|Thiamine-responsive megaloblastic anemia [RCV000269747] |
Chr1:169477770..169477771 [GRCh38] Chr1:169447008..169447009 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.205-25dup |
duplication |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000309439]|Thiamine-responsive megaloblastic anemia [RCV000405384]|not provided [RCV001610797] |
Chr1:169477770..169477771 [GRCh38] Chr1:169447008..169447009 [GRCh37] Chr1:1q24.2 |
benign|uncertain significance |
NM_006996.3(SLC19A2):c.845T>C (p.Leu282Pro) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000370916]|Thiamine-responsive megaloblastic anemia [RCV000273956] |
Chr1:169470149 [GRCh38] Chr1:169439387 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.*390T>G |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000276052]|Thiamine-responsive megaloblastic anemia [RCV000333435] |
Chr1:169465459 [GRCh38] Chr1:169434697 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.*1588T>G |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000317957]|Thiamine-responsive megaloblastic anemia [RCV000265221] |
Chr1:169464261 [GRCh38] Chr1:169433499 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.-2G>A |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000268197]|Thiamine-responsive megaloblastic anemia [RCV000320836] |
Chr1:169485768 [GRCh38] Chr1:169455006 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.-103G>A |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000280078]|Thiamine-responsive megaloblastic anemia [RCV000352008] |
Chr1:169485869 [GRCh38] Chr1:169455107 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.*1539CTGT[1] |
microsatellite |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000280291]|Thiamine-responsive megaloblastic anemia [RCV000374889] |
Chr1:169464303..169464306 [GRCh38] Chr1:169433541..169433544 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.550G>A (p.Gly184Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004021232]|not provided [RCV000301820] |
Chr1:169477412 [GRCh38] Chr1:169446650 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.*712dup |
duplication |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000394218]|Thiamine-responsive megaloblastic anemia [RCV000303536] |
Chr1:169465136..169465137 [GRCh38] Chr1:169434374..169434375 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.-163G>T |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000346041]|Thiamine-responsive megaloblastic anemia [RCV000392331] |
Chr1:169485929 [GRCh38] Chr1:169455167 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.*898_*899del |
deletion |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000304559]|Thiamine-responsive megaloblastic anemia [RCV000361586] |
Chr1:169464950..169464951 [GRCh38] Chr1:169434188..169434189 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.*1523A>G |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000293233]|Thiamine-responsive megaloblastic anemia [RCV000350338] |
Chr1:169464326 [GRCh38] Chr1:169433564 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.*627C>T |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000354380]|Thiamine-responsive megaloblastic anemia [RCV000316436] |
Chr1:169465222 [GRCh38] Chr1:169434460 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.10C>T (p.Pro4Ser) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000308450]|Thiamine-responsive megaloblastic anemia [RCV000360533] |
Chr1:169485757 [GRCh38] Chr1:169454995 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.*1493G>A |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000406280]|Thiamine-responsive megaloblastic anemia [RCV000310679] |
Chr1:169464356 [GRCh38] Chr1:169433594 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.-20C>A |
single nucleotide variant |
not specified [RCV000600370] |
Chr1:169485786 [GRCh38] Chr1:169455024 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1082G>A (p.Trp361Ter) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000583923] |
Chr1:169468785 [GRCh38] Chr1:169438023 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.428C>T (p.Ser143Phe) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000582702]|not provided [RCV002530823] |
Chr1:169477534 [GRCh38] Chr1:169446772 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.179C>G (p.Pro60Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002532629]|not provided [RCV000598400] |
Chr1:169485588 [GRCh38] Chr1:169454826 [GRCh37] Chr1:1q24.2 |
uncertain significance |
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 |
copy number loss |
See cases [RCV000447098] |
Chr1:161676893..184071723 [GRCh37] Chr1:1q23.3-25.3 |
pathogenic |
NM_006996.3(SLC19A2):c.-23G>C |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001096953]|not specified [RCV000420807] |
Chr1:169485789 [GRCh38] Chr1:169455027 [GRCh37] Chr1:1q24.2 |
benign|likely benign |
NM_006996.3(SLC19A2):c.1278A>G (p.Val426=) |
single nucleotide variant |
SLC19A2-related disorder [RCV003942404]|not provided [RCV000903071] |
Chr1:169468198 [GRCh38] Chr1:169437436 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.824G>T (p.Arg275Leu) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV003114575]|Monogenic diabetes [RCV000445482]|not provided [RCV000907752] |
Chr1:169470170 [GRCh38] Chr1:169439408 [GRCh37] Chr1:1q24.2 |
likely benign|uncertain significance |
NM_006996.3(SLC19A2):c.1223+9_1223+19delinsG |
indel |
not specified [RCV000481075] |
Chr1:169468625..169468635 [GRCh38] Chr1:169437863..169437873 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.319A>G (p.Ser107Gly) |
single nucleotide variant |
Thiamine-responsive megaloblastic anemia [RCV000509304]|not provided [RCV003151781] |
Chr1:169477643 [GRCh38] Chr1:169446881 [GRCh37] Chr1:1q24.2 |
uncertain significance|not provided |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_006996.3(SLC19A2):c.807+2T>G |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000762862]|not provided [RCV000498583] |
Chr1:169477153 [GRCh38] Chr1:169446391 [GRCh37] Chr1:1q24.2 |
likely pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_006996.3(SLC19A2):c.870C>T (p.Tyr290=) |
single nucleotide variant |
not provided [RCV003679009]|not specified [RCV000606814] |
Chr1:169470124 [GRCh38] Chr1:169439362 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1031-21dup |
duplication |
not provided [RCV002528730]|not specified [RCV000612339] |
Chr1:169468849..169468850 [GRCh38] Chr1:169438087..169438088 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1030+19T>C |
single nucleotide variant |
not provided [RCV002064183]|not specified [RCV000609775] |
Chr1:169469945 [GRCh38] Chr1:169439183 [GRCh37] Chr1:1q24.2 |
benign|likely benign |
NM_006996.3(SLC19A2):c.1367T>A (p.Phe456Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003270178] |
Chr1:169465976 [GRCh38] Chr1:169435214 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1366-16C>T |
single nucleotide variant |
not specified [RCV000613104] |
Chr1:169465993 [GRCh38] Chr1:169435231 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.633A>G (p.Pro211=) |
single nucleotide variant |
not provided [RCV002531695]|not specified [RCV000614001] |
Chr1:169477329 [GRCh38] Chr1:169446567 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1223+13del |
deletion |
not provided [RCV002065304]|not specified [RCV000608686] |
Chr1:169468631 [GRCh38] Chr1:169437869 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1014C>G (p.Ala338=) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001098609]|not provided [RCV000919987] |
Chr1:169469980 [GRCh38] Chr1:169439218 [GRCh37] Chr1:1q24.2 |
likely benign|uncertain significance |
NM_006996.3(SLC19A2):c.399C>T (p.Ile133=) |
single nucleotide variant |
not provided [RCV003767565]|not specified [RCV000606422] |
Chr1:169477563 [GRCh38] Chr1:169446801 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1001G>A (p.Gly334Asp) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV002267620]|not provided [RCV000657925] |
Chr1:169469993 [GRCh38] Chr1:169439231 [GRCh37] Chr1:1q24.2 |
pathogenic|likely pathogenic |
NM_006996.3(SLC19A2):c.807+81del |
deletion |
not provided [RCV001564979] |
Chr1:169477074 [GRCh38] Chr1:169446312 [GRCh37] Chr1:1q24.2 |
likely benign |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_006996.3(SLC19A2):c.584_585del (p.Leu195fs) |
deletion |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000735816] |
Chr1:169477377..169477378 [GRCh38] Chr1:169446615..169446616 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.64_70del (p.Thr22fs) |
deletion |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000735817] |
Chr1:169485697..169485703 [GRCh38] Chr1:169454935..169454941 [GRCh37] Chr1:1q24.2 |
pathogenic |
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 |
copy number loss |
not provided [RCV000736717] |
Chr1:159815642..177026983 [GRCh37] Chr1:1q23.2-25.2 |
pathogenic |
Single allele |
deletion |
1q24q25 microdeletion syndrome [RCV000754969] |
Chr1:169095250..175778910 [GRCh37] Chr1:1q24.2-25.1 |
pathogenic |
NM_006996.3(SLC19A2):c.807+137TTCA[5] |
microsatellite |
not provided [RCV001547092] |
Chr1:169476995..169476998 [GRCh38] Chr1:169446233..169446236 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.808-85G>C |
single nucleotide variant |
not provided [RCV001567887] |
Chr1:169470271 [GRCh38] Chr1:169439509 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.205-296G>T |
single nucleotide variant |
not provided [RCV001583151] |
Chr1:169478053 [GRCh38] Chr1:169447291 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1380C>T (p.Ala460=) |
single nucleotide variant |
not provided [RCV000898211] |
Chr1:169465963 [GRCh38] Chr1:169435201 [GRCh37] Chr1:1q24.2 |
likely benign |
NC_000001.11:g.169477377_169477378delAA |
deletion |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000781958] |
Chr1:169477377..169477378 [GRCh38] Chr1:169446615..169446616 [GRCh37] Chr1:1q24.2 |
pathogenic |
NC_000001.11:g.169485697_169485703delGAGCGGT |
deletion |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000781959] |
Chr1:169485697..169485703 [GRCh38] Chr1:169454935..169454941 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.808-1G>A |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000778194] |
Chr1:169470187 [GRCh38] Chr1:169439425 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.688A>T (p.Ile230Phe) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV000778195]|not provided [RCV001856152] |
Chr1:169477274 [GRCh38] Chr1:169446512 [GRCh37] Chr1:1q24.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006996.3(SLC19A2):c.270T>G (p.Leu90=) |
single nucleotide variant |
not provided [RCV000907970] |
Chr1:169477692 [GRCh38] Chr1:169446930 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.144G>A (p.Pro48=) |
single nucleotide variant |
not provided [RCV000921157] |
Chr1:169485623 [GRCh38] Chr1:169454861 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.843A>G (p.Val281=) |
single nucleotide variant |
not provided [RCV000920070] |
Chr1:169470151 [GRCh38] Chr1:169439389 [GRCh37] Chr1:1q24.2 |
likely benign |
GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623) |
copy number gain |
not provided [RCV000767621] |
Chr1:169423492..180367623 [GRCh37] Chr1:1q24.2-25.3 |
pathogenic |
GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1 |
copy number loss |
not provided [RCV001005149] |
Chr1:167430471..174635618 [GRCh37] Chr1:1q24.2-25.1 |
pathogenic |
NM_006996.2(SLC19A2):c.-431C>G |
single nucleotide variant |
not provided [RCV000844033] |
Chr1:169486197 [GRCh38] Chr1:169455435 [GRCh37] Chr1:1q24.2 |
benign |
NM_006996.3(SLC19A2):c.1093A>T (p.Thr365Ser) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV003117613]|not provided [RCV000837957] |
Chr1:169468774 [GRCh38] Chr1:169438012 [GRCh37] Chr1:1q24.2 |
benign|likely benign |
GRCh37/hg19 1q24.2(chr1:169371524-169496812)x3 |
copy number gain |
not provided [RCV000848429] |
Chr1:169371524..169496812 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1031-106T>C |
single nucleotide variant |
not provided [RCV000835599] |
Chr1:169468942 [GRCh38] Chr1:169438180 [GRCh37] Chr1:1q24.2 |
benign |
NM_006996.3(SLC19A2):c.1366-184C>T |
single nucleotide variant |
not provided [RCV000832519] |
Chr1:169466161 [GRCh38] Chr1:169435399 [GRCh37] Chr1:1q24.2 |
benign |
NM_006996.3(SLC19A2):c.1365+196G>T |
single nucleotide variant |
not provided [RCV000832911] |
Chr1:169467915 [GRCh38] Chr1:169437153 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.*1928T>C |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001098505] |
Chr1:169463921 [GRCh38] Chr1:169433159 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.*1927C>T |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001098506] |
Chr1:169463922 [GRCh38] Chr1:169433160 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.909C>G (p.Ala303=) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001098611]|not provided [RCV003769056] |
Chr1:169470085 [GRCh38] Chr1:169439323 [GRCh37] Chr1:1q24.2 |
likely benign|uncertain significance |
NM_006996.3(SLC19A2):c.588C>T (p.Thr196=) |
single nucleotide variant |
SLC19A2-related disorder [RCV003970616]|not provided [RCV000939433] |
Chr1:169477374 [GRCh38] Chr1:169446612 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.204+17C>T |
single nucleotide variant |
not provided [RCV000840226] |
Chr1:169485546 [GRCh38] Chr1:169454784 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.205-284T>G |
single nucleotide variant |
not provided [RCV000844036] |
Chr1:169478041 [GRCh38] Chr1:169447279 [GRCh37] Chr1:1q24.2 |
benign |
NM_006996.3(SLC19A2):c.807+210T>C |
single nucleotide variant |
not provided [RCV000844037] |
Chr1:169476945 [GRCh38] Chr1:169446183 [GRCh37] Chr1:1q24.2 |
benign |
NM_006996.3(SLC19A2):c.1366-55A>G |
single nucleotide variant |
not provided [RCV000838351] |
Chr1:169466032 [GRCh38] Chr1:169435270 [GRCh37] Chr1:1q24.2 |
likely benign |
GRCh37/hg19 1q24.2(chr1:169148346-169806006)x1 |
copy number loss |
not provided [RCV001005151] |
Chr1:169148346..169806006 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1291G>T (p.Ala431Ser) |
single nucleotide variant |
not provided [RCV000992765] |
Chr1:169468185 [GRCh38] Chr1:169437423 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.98C>A (p.Pro33Gln) |
single nucleotide variant |
Monogenic diabetes [RCV001174381]|not provided [RCV002559674] |
Chr1:169485669 [GRCh38] Chr1:169454907 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.*1421A>G |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001100265]|not provided [RCV001785777] |
Chr1:169464428 [GRCh38] Chr1:169433666 [GRCh37] Chr1:1q24.2 |
benign|likely benign |
NM_006996.3(SLC19A2):c.*1186A>G |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001100268] |
Chr1:169464663 [GRCh38] Chr1:169433901 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.205-13C>T |
single nucleotide variant |
not provided [RCV001582305] |
Chr1:169477770 [GRCh38] Chr1:169447008 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1450A>T (p.Lys484Ter) |
single nucleotide variant |
not provided [RCV001665342] |
Chr1:169465893 [GRCh38] Chr1:169435131 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.808-79_808-68del |
deletion |
not provided [RCV001578225] |
Chr1:169470254..169470265 [GRCh38] Chr1:169439492..169439503 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1245C>T (p.Leu415=) |
single nucleotide variant |
not provided [RCV000939690] |
Chr1:169468231 [GRCh38] Chr1:169437469 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1031-6C>T |
single nucleotide variant |
not provided [RCV000952462] |
Chr1:169468842 [GRCh38] Chr1:169438080 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.12C>T (p.Pro4=) |
single nucleotide variant |
not provided [RCV000910969] |
Chr1:169485755 [GRCh38] Chr1:169454993 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.30G>A (p.Arg10=) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001102363]|not provided [RCV003546618] |
Chr1:169485737 [GRCh38] Chr1:169454975 [GRCh37] Chr1:1q24.2 |
likely benign|uncertain significance |
NM_006996.3(SLC19A2):c.1276G>A (p.Val426Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002558768]|Monogenic diabetes [RCV001174380] |
Chr1:169468200 [GRCh38] Chr1:169437438 [GRCh37] Chr1:1q24.2 |
likely benign|uncertain significance |
NM_006996.3(SLC19A2):c.200G>C (p.Arg67Thr) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001102360]|not provided [RCV000994164] |
Chr1:169485567 [GRCh38] Chr1:169454805 [GRCh37] Chr1:1q24.2 |
likely benign|uncertain significance |
NM_006996.3(SLC19A2):c.1030+115G>A |
single nucleotide variant |
not provided [RCV001552332] |
Chr1:169469849 [GRCh38] Chr1:169439087 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1366-125G>C |
single nucleotide variant |
not provided [RCV001555232] |
Chr1:169466102 [GRCh38] Chr1:169435340 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1224-106_1224-104del |
microsatellite |
not provided [RCV001716362] |
Chr1:169468356..169468358 [GRCh38] Chr1:169437594..169437596 [GRCh37] Chr1:1q24.2 |
benign |
NM_006996.3(SLC19A2):c.205-14del |
deletion |
not provided [RCV001717049] |
Chr1:169477771 [GRCh38] Chr1:169447009 [GRCh37] Chr1:1q24.2 |
benign |
NM_006996.3(SLC19A2):c.*51C>G |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001096850] |
Chr1:169465798 [GRCh38] Chr1:169435036 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.287G>A (p.Arg96His) |
single nucleotide variant |
Inborn genetic diseases [RCV002556028]|Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001100388] |
Chr1:169477675 [GRCh38] Chr1:169446913 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.180G>T (p.Pro60=) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001102361] |
Chr1:169485587 [GRCh38] Chr1:169454825 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.*658T>C |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001102254] |
Chr1:169465191 [GRCh38] Chr1:169434429 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.*31A>G |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001096851] |
Chr1:169465818 [GRCh38] Chr1:169435056 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1327G>A (p.Val443Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003259090]|Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001096852] |
Chr1:169468149 [GRCh38] Chr1:169437387 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1008G>A (p.Val336=) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001098610]|not provided [RCV003769055] |
Chr1:169469986 [GRCh38] Chr1:169439224 [GRCh37] Chr1:1q24.2 |
likely benign|uncertain significance |
NM_006996.3(SLC19A2):c.*1246T>G |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001100267] |
Chr1:169464603 [GRCh38] Chr1:169433841 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.*174C>G |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001102256] |
Chr1:169465675 [GRCh38] Chr1:169434913 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.*1349T>C |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001100266] |
Chr1:169464500 [GRCh38] Chr1:169433738 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.*1543C>G |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001098507] |
Chr1:169464306 [GRCh38] Chr1:169433544 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1149G>C (p.Val383=) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001098608] |
Chr1:169468718 [GRCh38] Chr1:169437956 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.793C>T (p.Pro265Ser) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001100386]|not provided [RCV002558011] |
Chr1:169477169 [GRCh38] Chr1:169446407 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.518C>G (p.Ser173Cys) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001100387] |
Chr1:169477444 [GRCh38] Chr1:169446682 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.*440T>C |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001102255] |
Chr1:169465409 [GRCh38] Chr1:169434647 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.42G>T (p.Ala14=) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001102362]|not provided [RCV003769074] |
Chr1:169485725 [GRCh38] Chr1:169454963 [GRCh37] Chr1:1q24.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NC_000001.10:g.(?_130980840)_(248900000_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] |
Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44 |
uncertain significance |
NM_006996.3(SLC19A2):c.124T>G (p.Phe42Val) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001337041] |
Chr1:169485643 [GRCh38] Chr1:169454881 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.30GGC[7] (p.Ala16dup) |
microsatellite |
SLC19A2-related disorder [RCV003946010]|not provided [RCV001350129] |
Chr1:169485719..169485720 [GRCh38] Chr1:169454957..169454958 [GRCh37] Chr1:1q24.2 |
likely benign|uncertain significance |
NM_006996.3(SLC19A2):c.697C>T (p.Gln233Ter) |
single nucleotide variant |
Ear malformation [RCV001814323]|Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV001534618] |
Chr1:169477265 [GRCh38] Chr1:169446503 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.1014C>T (p.Ala338=) |
single nucleotide variant |
not provided [RCV001590682] |
Chr1:169469980 [GRCh38] Chr1:169439218 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.808-235T>G |
single nucleotide variant |
not provided [RCV001588772] |
Chr1:169470421 [GRCh38] Chr1:169439659 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1256G>A (p.Arg419His) |
single nucleotide variant |
not provided [RCV003108935] |
Chr1:169468220 [GRCh38] Chr1:169437458 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.316C>A (p.Leu106Ile) |
single nucleotide variant |
not provided [RCV001786981] |
Chr1:169477646 [GRCh38] Chr1:169446884 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.872C>A (p.Ser291Tyr) |
single nucleotide variant |
not provided [RCV001929472] |
Chr1:169470122 [GRCh38] Chr1:169439360 [GRCh37] Chr1:1q24.2 |
uncertain significance |
GRCh37/hg19 1q24.2-24.3(chr1:167391422-171843613) |
copy number loss |
not specified [RCV002053691] |
Chr1:167391422..171843613 [GRCh37] Chr1:1q24.2-24.3 |
pathogenic |
GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331) |
copy number loss |
not specified [RCV002053680] |
Chr1:162330810..171532331 [GRCh37] Chr1:1q23.3-24.3 |
pathogenic |
NM_006996.3(SLC19A2):c.52G>A (p.Val18Met) |
single nucleotide variant |
not provided [RCV002024446] |
Chr1:169485715 [GRCh38] Chr1:169454953 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.104C>T (p.Ala35Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002551235]|Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV002507840]|not provided [RCV002052311] |
Chr1:169485663 [GRCh38] Chr1:169454901 [GRCh37] Chr1:1q24.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_006996.3(SLC19A2):c.170T>C (p.Leu57Pro) |
single nucleotide variant |
not provided [RCV002034002] |
Chr1:169485597 [GRCh38] Chr1:169454835 [GRCh37] Chr1:1q24.2 |
likely pathogenic |
NM_006996.3(SLC19A2):c.620_624dup (p.Pro209fs) |
duplication |
not provided [RCV001941684] |
Chr1:169477337..169477338 [GRCh38] Chr1:169446575..169446576 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.77G>A (p.Arg26His) |
single nucleotide variant |
not provided [RCV001883544] |
Chr1:169485690 [GRCh38] Chr1:169454928 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1139T>C (p.Met380Thr) |
single nucleotide variant |
not provided [RCV001922486] |
Chr1:169468728 [GRCh38] Chr1:169437966 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1307C>T (p.Thr436Met) |
single nucleotide variant |
not provided [RCV001916718] |
Chr1:169468169 [GRCh38] Chr1:169437407 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1432G>A (p.Val478Ile) |
single nucleotide variant |
not provided [RCV002030347] |
Chr1:169465911 [GRCh38] Chr1:169435149 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.920G>C (p.Cys307Ser) |
single nucleotide variant |
not provided [RCV001923379] |
Chr1:169470074 [GRCh38] Chr1:169439312 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.500T>C (p.Val167Ala) |
single nucleotide variant |
not provided [RCV001939202] |
Chr1:169477462 [GRCh38] Chr1:169446700 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1063A>C (p.Lys355Gln) |
single nucleotide variant |
not provided [RCV002049733] |
Chr1:169468804 [GRCh38] Chr1:169438042 [GRCh37] Chr1:1q24.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_006996.3(SLC19A2):c.1213A>G (p.Thr405Ala) |
single nucleotide variant |
not provided [RCV001998936] |
Chr1:169468654 [GRCh38] Chr1:169437892 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1171G>A (p.Ala391Thr) |
single nucleotide variant |
not provided [RCV001972226] |
Chr1:169468696 [GRCh38] Chr1:169437934 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.771C>T (p.Ile257=) |
single nucleotide variant |
not provided [RCV002187309] |
Chr1:169477191 [GRCh38] Chr1:169446429 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1398C>T (p.Ile466=) |
single nucleotide variant |
not provided [RCV002091304] |
Chr1:169465945 [GRCh38] Chr1:169435183 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.432T>C (p.Tyr144=) |
single nucleotide variant |
not provided [RCV002102747] |
Chr1:169477530 [GRCh38] Chr1:169446768 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.835T>C (p.Leu279=) |
single nucleotide variant |
not provided [RCV002155986] |
Chr1:169470159 [GRCh38] Chr1:169439397 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1293C>T (p.Ala431=) |
single nucleotide variant |
not provided [RCV002136448] |
Chr1:169468183 [GRCh38] Chr1:169437421 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.808-20T>C |
single nucleotide variant |
not provided [RCV002123995] |
Chr1:169470206 [GRCh38] Chr1:169439444 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.204+13G>A |
single nucleotide variant |
not provided [RCV002123374] |
Chr1:169485550 [GRCh38] Chr1:169454788 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1113C>G (p.Leu371=) |
single nucleotide variant |
not provided [RCV002100387] |
Chr1:169468754 [GRCh38] Chr1:169437992 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.201G>A (p.Arg67=) |
single nucleotide variant |
not provided [RCV002102918] |
Chr1:169485566 [GRCh38] Chr1:169454804 [GRCh37] Chr1:1q24.2 |
likely benign |
NC_000001.10:g.(?_169435087)_(169455004_?)del |
deletion |
not provided [RCV003109602] |
Chr1:169435087..169455004 [GRCh37] Chr1:1q24.2 |
pathogenic |
NC_000001.10:g.(?_169454781)_(169455004_?)del |
deletion |
not provided [RCV003109603] |
Chr1:169454781..169455004 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.979C>T (p.Arg327Cys) |
single nucleotide variant |
not provided [RCV003115304] |
Chr1:169470015 [GRCh38] Chr1:169439253 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1061T>C (p.Ile354Thr) |
single nucleotide variant |
not provided [RCV002275822] |
Chr1:169468806 [GRCh38] Chr1:169438044 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1160G>A (p.Trp387Ter) |
single nucleotide variant |
not provided [RCV003236143] |
Chr1:169468707 [GRCh38] Chr1:169437945 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.1033G>T (p.Ala345Ser) |
single nucleotide variant |
not provided [RCV002464826] |
Chr1:169468834 [GRCh38] Chr1:169438072 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.31G>T (p.Ala11Ser) |
single nucleotide variant |
not provided [RCV002303046] |
Chr1:169485736 [GRCh38] Chr1:169454974 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.138C>T (p.Leu46=) |
single nucleotide variant |
not provided [RCV002881567] |
Chr1:169485629 [GRCh38] Chr1:169454867 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.30GGC[5] (p.Ala16del) |
microsatellite |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV003615920]|not provided [RCV002614525] |
Chr1:169485720..169485722 [GRCh38] Chr1:169454958..169454960 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.262G>A (p.Val88Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002750990]|not provided [RCV002750991] |
Chr1:169477700 [GRCh38] Chr1:169446938 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1061_1063del (p.Ile354del) |
deletion |
Inborn genetic diseases [RCV002972820] |
Chr1:169468804..169468806 [GRCh38] Chr1:169438042..169438044 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1031-17T>G |
single nucleotide variant |
not provided [RCV002755217] |
Chr1:169468853 [GRCh38] Chr1:169438091 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.631C>T (p.Pro211Ser) |
single nucleotide variant |
not provided [RCV002591678] |
Chr1:169477331 [GRCh38] Chr1:169446569 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1255C>T (p.Arg419Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002762568] |
Chr1:169468221 [GRCh38] Chr1:169437459 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1134T>C (p.Tyr378=) |
single nucleotide variant |
not provided [RCV002781247] |
Chr1:169468733 [GRCh38] Chr1:169437971 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.648C>T (p.Phe216=) |
single nucleotide variant |
not provided [RCV002621748] |
Chr1:169477314 [GRCh38] Chr1:169446552 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1087G>A (p.Glu363Lys) |
single nucleotide variant |
not provided [RCV002846252] |
Chr1:169468780 [GRCh38] Chr1:169438018 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.775C>G (p.Leu259Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002924444] |
Chr1:169477187 [GRCh38] Chr1:169446425 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.156C>T (p.Phe52=) |
single nucleotide variant |
not provided [RCV002620420] |
Chr1:169485611 [GRCh38] Chr1:169454849 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.5A>G (p.Asp2Gly) |
single nucleotide variant |
not provided [RCV002923231] |
Chr1:169485762 [GRCh38] Chr1:169455000 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.193A>T (p.Thr65Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002712688] |
Chr1:169485574 [GRCh38] Chr1:169454812 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.806C>T (p.Pro269Leu) |
single nucleotide variant |
not provided [RCV002667031] |
Chr1:169477156 [GRCh38] Chr1:169446394 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.52G>C (p.Val18Leu) |
single nucleotide variant |
not provided [RCV003084834] |
Chr1:169485715 [GRCh38] Chr1:169454953 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.191T>C (p.Leu64Pro) |
single nucleotide variant |
not provided [RCV003084851] |
Chr1:169485576 [GRCh38] Chr1:169454814 [GRCh37] Chr1:1q24.2 |
likely pathogenic |
NM_006996.3(SLC19A2):c.1166G>T (p.Cys389Phe) |
single nucleotide variant |
not provided [RCV003059482] |
Chr1:169468701 [GRCh38] Chr1:169437939 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.457A>C (p.Met153Leu) |
single nucleotide variant |
not provided [RCV002957674] |
Chr1:169477505 [GRCh38] Chr1:169446743 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1223+14C>G |
single nucleotide variant |
not provided [RCV002828155] |
Chr1:169468630 [GRCh38] Chr1:169437868 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.54G>T (p.Val18=) |
single nucleotide variant |
not provided [RCV002852611] |
Chr1:169485713 [GRCh38] Chr1:169454951 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.11C>G (p.Pro4Arg) |
single nucleotide variant |
not provided [RCV002890517] |
Chr1:169485756 [GRCh38] Chr1:169454994 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.540C>T (p.Val180=) |
single nucleotide variant |
not provided [RCV002643856] |
Chr1:169477422 [GRCh38] Chr1:169446660 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1125T>G (p.Ala375=) |
single nucleotide variant |
not provided [RCV002595862] |
Chr1:169468742 [GRCh38] Chr1:169437980 [GRCh37] Chr1:1q24.2 |
likely benign|uncertain significance |
NM_006996.3(SLC19A2):c.749G>A (p.Trp250Ter) |
single nucleotide variant |
not provided [RCV002875867] |
Chr1:169477213 [GRCh38] Chr1:169446451 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.30GGC[4] (p.Ala15_Ala16del) |
microsatellite |
not provided [RCV002982801] |
Chr1:169485720..169485725 [GRCh38] Chr1:169454958..169454963 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.286C>T (p.Arg96Cys) |
single nucleotide variant |
not provided [RCV003084396] |
Chr1:169477676 [GRCh38] Chr1:169446914 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1311G>A (p.Leu437=) |
single nucleotide variant |
not provided [RCV003044850] |
Chr1:169468165 [GRCh38] Chr1:169437403 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1351_1360del (p.Glu451fs) |
deletion |
not provided [RCV003029927] |
Chr1:169468116..169468125 [GRCh38] Chr1:169437354..169437363 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.824G>A (p.Arg275His) |
single nucleotide variant |
Inborn genetic diseases [RCV003008661] |
Chr1:169470170 [GRCh38] Chr1:169439408 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.823C>T (p.Arg275Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002938623]|not provided [RCV002938624] |
Chr1:169470171 [GRCh38] Chr1:169439409 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.602C>T (p.Ala201Val) |
single nucleotide variant |
not provided [RCV002648218] |
Chr1:169477360 [GRCh38] Chr1:169446598 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.655C>T (p.His219Tyr) |
single nucleotide variant |
not provided [RCV002577466] |
Chr1:169477307 [GRCh38] Chr1:169446545 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.579C>T (p.Ile193=) |
single nucleotide variant |
not provided [RCV002671506] |
Chr1:169477383 [GRCh38] Chr1:169446621 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.77G>T (p.Arg26Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004070558]|not provided [RCV002628241] |
Chr1:169485690 [GRCh38] Chr1:169454928 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.461A>T (p.Tyr154Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002921106] |
Chr1:169477501 [GRCh38] Chr1:169446739 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.400G>A (p.Ala134Thr) |
single nucleotide variant |
not provided [RCV002649705] |
Chr1:169477562 [GRCh38] Chr1:169446800 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.196G>T (p.Glu66Ter) |
single nucleotide variant |
not provided [RCV002648219] |
Chr1:169485571 [GRCh38] Chr1:169454809 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.566G>C (p.Ser189Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002897311] |
Chr1:169477396 [GRCh38] Chr1:169446634 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.4G>C (p.Asp2His) |
single nucleotide variant |
Inborn genetic diseases [RCV002747408] |
Chr1:169485763 [GRCh38] Chr1:169455001 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1399G>A (p.Ala467Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003065096]|not provided [RCV003071500] |
Chr1:169465944 [GRCh38] Chr1:169435182 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.750G>C (p.Trp250Cys) |
single nucleotide variant |
not provided [RCV003069107] |
Chr1:169477212 [GRCh38] Chr1:169446450 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.583C>T (p.Leu195Phe) |
single nucleotide variant |
not provided [RCV002635070] |
Chr1:169477379 [GRCh38] Chr1:169446617 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.200G>A (p.Arg67Lys) |
single nucleotide variant |
not provided [RCV002603070] |
Chr1:169485567 [GRCh38] Chr1:169454805 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.861G>T (p.Leu287=) |
single nucleotide variant |
not provided [RCV002725360] |
Chr1:169470133 [GRCh38] Chr1:169439371 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.54G>C (p.Val18=) |
single nucleotide variant |
not provided [RCV002603295] |
Chr1:169485713 [GRCh38] Chr1:169454951 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1223+1G>A |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV004596567]|not provided [RCV002634320] |
Chr1:169468643 [GRCh38] Chr1:169437881 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.1308G>T (p.Thr436=) |
single nucleotide variant |
not provided [RCV002610728] |
Chr1:169468168 [GRCh38] Chr1:169437406 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1178A>G (p.Tyr393Cys) |
single nucleotide variant |
not provided [RCV002587701] |
Chr1:169468689 [GRCh38] Chr1:169437927 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1093A>G (p.Thr365Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003195350] |
Chr1:169468774 [GRCh38] Chr1:169438012 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1006G>T (p.Val336Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003190783] |
Chr1:169469988 [GRCh38] Chr1:169439226 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.479A>G (p.Tyr160Cys) |
single nucleotide variant |
not provided [RCV003218996] |
Chr1:169477483 [GRCh38] Chr1:169446721 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.590G>C (p.Cys197Ser) |
single nucleotide variant |
not provided [RCV003229174] |
Chr1:169477372 [GRCh38] Chr1:169446610 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.947C>T (p.Thr316Ile) |
single nucleotide variant |
not provided [RCV003323253] |
Chr1:169470047 [GRCh38] Chr1:169439285 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.314G>A (p.Gly105Glu) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV003338197]|not provided [RCV003561314] |
Chr1:169477648 [GRCh38] Chr1:169446886 [GRCh37] Chr1:1q24.2 |
pathogenic|likely pathogenic |
NM_006996.3(SLC19A2):c.42G>A (p.Ala14=) |
single nucleotide variant |
not provided [RCV003332692] |
Chr1:169485725 [GRCh38] Chr1:169454963 [GRCh37] Chr1:1q24.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_006996.3(SLC19A2):c.6T>G (p.Asp2Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003367445] |
Chr1:169485761 [GRCh38] Chr1:169454999 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1453C>T (p.Leu485=) |
single nucleotide variant |
not provided [RCV003873411] |
Chr1:169465890 [GRCh38] Chr1:169435128 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1365+20A>G |
single nucleotide variant |
not provided [RCV003569455] |
Chr1:169468091 [GRCh38] Chr1:169437329 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1365+7T>C |
single nucleotide variant |
not provided [RCV003690907] |
Chr1:169468104 [GRCh38] Chr1:169437342 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.366G>A (p.Leu122=) |
single nucleotide variant |
not provided [RCV003686439] |
Chr1:169477596 [GRCh38] Chr1:169446834 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.558G>A (p.Ser186=) |
single nucleotide variant |
not provided [RCV003875772] |
Chr1:169477404 [GRCh38] Chr1:169446642 [GRCh37] Chr1:1q24.2 |
likely benign |
GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1 |
copy number loss |
not provided [RCV003483966] |
Chr1:164571371..175708060 [GRCh37] Chr1:1q23.3-25.1 |
pathogenic |
NM_006996.3(SLC19A2):c.1224-7_1224-4del |
deletion |
not provided [RCV003569828] |
Chr1:169468256..169468259 [GRCh38] Chr1:169437494..169437497 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1223+20G>C |
single nucleotide variant |
not provided [RCV003690776] |
Chr1:169468624 [GRCh38] Chr1:169437862 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1312C>T (p.Leu438Phe) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV003486250] |
Chr1:169468164 [GRCh38] Chr1:169437402 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.234T>C (p.Thr78=) |
single nucleotide variant |
not provided [RCV003579372] |
Chr1:169477728 [GRCh38] Chr1:169446966 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.291T>C (p.Tyr97=) |
single nucleotide variant |
not provided [RCV003830949] |
Chr1:169477671 [GRCh38] Chr1:169446909 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.609T>C (p.Ala203=) |
single nucleotide variant |
not provided [RCV003740351] |
Chr1:169477353 [GRCh38] Chr1:169446591 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.147C>A (p.Ser49=) |
single nucleotide variant |
not provided [RCV003696632] |
Chr1:169485620 [GRCh38] Chr1:169454858 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.255G>A (p.Leu85=) |
single nucleotide variant |
not provided [RCV003694797] |
Chr1:169477707 [GRCh38] Chr1:169446945 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.75C>G (p.Val25=) |
single nucleotide variant |
not provided [RCV003830181] |
Chr1:169485692 [GRCh38] Chr1:169454930 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.954C>A (p.Gly318=) |
single nucleotide variant |
not provided [RCV003695913] |
Chr1:169470040 [GRCh38] Chr1:169439278 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.205-9_205-6del |
deletion |
not provided [RCV003662379] |
Chr1:169477763..169477766 [GRCh38] Chr1:169447001..169447004 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1031-10_1031-7del |
microsatellite |
not provided [RCV003692862] |
Chr1:169468843..169468846 [GRCh38] Chr1:169438081..169438084 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.543A>T (p.Ser181=) |
single nucleotide variant |
not provided [RCV003827936] |
Chr1:169477419 [GRCh38] Chr1:169446657 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1223+17A>G |
single nucleotide variant |
not provided [RCV003880982] |
Chr1:169468627 [GRCh38] Chr1:169437865 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1476T>C (p.Ser492=) |
single nucleotide variant |
not provided [RCV003694225] |
Chr1:169465867 [GRCh38] Chr1:169435105 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.678_679del (p.Arg226fs) |
microsatellite |
not provided [RCV003716238] |
Chr1:169477283..169477284 [GRCh38] Chr1:169446521..169446522 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.1224-13del |
deletion |
not provided [RCV003666219] |
Chr1:169468265 [GRCh38] Chr1:169437503 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.36G>C (p.Ala12=) |
single nucleotide variant |
not provided [RCV003572933] |
Chr1:169485731 [GRCh38] Chr1:169454969 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1366-9C>G |
single nucleotide variant |
not provided [RCV003572396] |
Chr1:169465986 [GRCh38] Chr1:169435224 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1041T>C (p.Ala347=) |
single nucleotide variant |
not provided [RCV003577191] |
Chr1:169468826 [GRCh38] Chr1:169438064 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.205-15T>C |
single nucleotide variant |
not provided [RCV003713280] |
Chr1:169477772 [GRCh38] Chr1:169447010 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1294C>T (p.Leu432=) |
single nucleotide variant |
not provided [RCV003572527] |
Chr1:169468182 [GRCh38] Chr1:169437420 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.204+11C>T |
single nucleotide variant |
not provided [RCV003829527] |
Chr1:169485552 [GRCh38] Chr1:169454790 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.597del (p.Val200fs) |
deletion |
not provided [RCV003687798] |
Chr1:169477365 [GRCh38] Chr1:169446603 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.902G>A (p.Trp301Ter) |
single nucleotide variant |
not provided [RCV003692236] |
Chr1:169470092 [GRCh38] Chr1:169439330 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.1428C>T (p.Val476=) |
single nucleotide variant |
not provided [RCV003548014] |
Chr1:169465915 [GRCh38] Chr1:169435153 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1131G>A (p.Val377=) |
single nucleotide variant |
not provided [RCV003663406] |
Chr1:169468736 [GRCh38] Chr1:169437974 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1455G>A (p.Leu485=) |
single nucleotide variant |
not provided [RCV003714698] |
Chr1:169465888 [GRCh38] Chr1:169435126 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.807+18T>A |
single nucleotide variant |
not provided [RCV003688499] |
Chr1:169477137 [GRCh38] Chr1:169446375 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1366-8C>T |
single nucleotide variant |
not provided [RCV003687932] |
Chr1:169465985 [GRCh38] Chr1:169435223 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.205-19T>G |
single nucleotide variant |
not provided [RCV003830667] |
Chr1:169477776 [GRCh38] Chr1:169447014 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.808-2A>G |
single nucleotide variant |
not provided [RCV003578699] |
Chr1:169470188 [GRCh38] Chr1:169439426 [GRCh37] Chr1:1q24.2 |
likely pathogenic |
NM_006996.3(SLC19A2):c.1446T>C (p.Cys482=) |
single nucleotide variant |
not provided [RCV003739228] |
Chr1:169465897 [GRCh38] Chr1:169435135 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.915T>C (p.Ser305=) |
single nucleotide variant |
not provided [RCV003831073] |
Chr1:169470079 [GRCh38] Chr1:169439317 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1467A>G (p.Gln489=) |
single nucleotide variant |
not provided [RCV003830104] |
Chr1:169465876 [GRCh38] Chr1:169435114 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.852T>C (p.Asn284=) |
single nucleotide variant |
not provided [RCV003547112] |
Chr1:169470142 [GRCh38] Chr1:169439380 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1031-20T>G |
single nucleotide variant |
not provided [RCV003661577] |
Chr1:169468856 [GRCh38] Chr1:169438094 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.272C>A (p.Ala91Asp) |
single nucleotide variant |
not provided [RCV003827598] |
Chr1:169477690 [GRCh38] Chr1:169446928 [GRCh37] Chr1:1q24.2 |
likely pathogenic |
NM_006996.3(SLC19A2):c.36G>A (p.Ala12=) |
single nucleotide variant |
not provided [RCV003691834] |
Chr1:169485731 [GRCh38] Chr1:169454969 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.96G>A (p.Leu32=) |
single nucleotide variant |
not provided [RCV003572976] |
Chr1:169485671 [GRCh38] Chr1:169454909 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.921T>C (p.Cys307=) |
single nucleotide variant |
not provided [RCV003715130] |
Chr1:169470073 [GRCh38] Chr1:169439311 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.258T>C (p.Phe86=) |
single nucleotide variant |
not provided [RCV003824931] |
Chr1:169477704 [GRCh38] Chr1:169446942 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.807+17A>C |
single nucleotide variant |
not provided [RCV003693496] |
Chr1:169477138 [GRCh38] Chr1:169446376 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.999del (p.Asn333fs) |
deletion |
not provided [RCV003691884] |
Chr1:169469995 [GRCh38] Chr1:169439233 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.1171dup (p.Ala391fs) |
duplication |
not provided [RCV003543905] |
Chr1:169468695..169468696 [GRCh38] Chr1:169437933..169437934 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.159G>T (p.Leu53=) |
single nucleotide variant |
not provided [RCV003690177] |
Chr1:169485608 [GRCh38] Chr1:169454846 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.130G>A (p.Ala44Thr) |
single nucleotide variant |
not provided [RCV003692164] |
Chr1:169485637 [GRCh38] Chr1:169454875 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.148G>T (p.Glu50Ter) |
single nucleotide variant |
not provided [RCV003688748] |
Chr1:169485619 [GRCh38] Chr1:169454857 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.1299A>T (p.Ala433=) |
single nucleotide variant |
not provided [RCV003827826] |
Chr1:169468177 [GRCh38] Chr1:169437415 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.165G>A (p.Pro55=) |
single nucleotide variant |
not provided [RCV003712912] |
Chr1:169485602 [GRCh38] Chr1:169454840 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.669C>T (p.Thr223=) |
single nucleotide variant |
not provided [RCV003573509] |
Chr1:169477293 [GRCh38] Chr1:169446531 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.39G>A (p.Ala13=) |
single nucleotide variant |
not provided [RCV003665858] |
Chr1:169485728 [GRCh38] Chr1:169454966 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.81C>T (p.Arg27=) |
single nucleotide variant |
not provided [RCV003717323] |
Chr1:169485686 [GRCh38] Chr1:169454924 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1031-5T>C |
single nucleotide variant |
not provided [RCV003698205] |
Chr1:169468841 [GRCh38] Chr1:169438079 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.48C>T (p.Ala16=) |
single nucleotide variant |
not provided [RCV003580997] |
Chr1:169485719 [GRCh38] Chr1:169454957 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.205-26_205-20del |
microsatellite |
not provided [RCV003834360] |
Chr1:169477777..169477783 [GRCh38] Chr1:169447015..169447021 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.831T>G (p.Leu277=) |
single nucleotide variant |
not provided [RCV003697244] |
Chr1:169470163 [GRCh38] Chr1:169439401 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.205-9T>A |
single nucleotide variant |
not provided [RCV003840265] |
Chr1:169477766 [GRCh38] Chr1:169447004 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1224-18C>T |
single nucleotide variant |
not provided [RCV003814352] |
Chr1:169468270 [GRCh38] Chr1:169437508 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.120C>T (p.Tyr40=) |
single nucleotide variant |
not provided [RCV003726676] |
Chr1:169485647 [GRCh38] Chr1:169454885 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.205-20_205-14del |
deletion |
not provided [RCV003663962] |
Chr1:169477771..169477777 [GRCh38] Chr1:169447009..169447015 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.358G>T (p.Gly120Ter) |
single nucleotide variant |
not provided [RCV003665448] |
Chr1:169477604 [GRCh38] Chr1:169446842 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.1224-18_1224-17del |
microsatellite |
not provided [RCV003664011] |
Chr1:169468269..169468270 [GRCh38] Chr1:169437507..169437508 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.150G>A (p.Glu50=) |
single nucleotide variant |
not provided [RCV003674296] |
Chr1:169485617 [GRCh38] Chr1:169454855 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.204+20G>A |
single nucleotide variant |
not provided [RCV003723967] |
Chr1:169485543 [GRCh38] Chr1:169454781 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.138C>G (p.Leu46=) |
single nucleotide variant |
not provided [RCV003580394] |
Chr1:169485629 [GRCh38] Chr1:169454867 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.897T>C (p.Ser299=) |
single nucleotide variant |
not provided [RCV003560617] |
Chr1:169470097 [GRCh38] Chr1:169439335 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.204+16G>A |
single nucleotide variant |
not provided [RCV003816330] |
Chr1:169485547 [GRCh38] Chr1:169454785 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1366-6T>G |
single nucleotide variant |
not provided [RCV003548009] |
Chr1:169465983 [GRCh38] Chr1:169435221 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.834A>G (p.Val278=) |
single nucleotide variant |
not provided [RCV003814138] |
Chr1:169470160 [GRCh38] Chr1:169439398 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.963G>A (p.Glu321=) |
single nucleotide variant |
not provided [RCV003672873] |
Chr1:169470031 [GRCh38] Chr1:169439269 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1155C>T (p.Asn385=) |
single nucleotide variant |
not provided [RCV003702585] |
Chr1:169468712 [GRCh38] Chr1:169437950 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.391del (p.Tyr131fs) |
deletion |
not provided [RCV003701770] |
Chr1:169477571 [GRCh38] Chr1:169446809 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.162C>T (p.Thr54=) |
single nucleotide variant |
not provided [RCV003549355] |
Chr1:169485605 [GRCh38] Chr1:169454843 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.81C>G (p.Arg27=) |
single nucleotide variant |
not provided [RCV003816878] |
Chr1:169485686 [GRCh38] Chr1:169454924 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.106C>T (p.Leu36=) |
single nucleotide variant |
not provided [RCV003838601] |
Chr1:169485661 [GRCh38] Chr1:169454899 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.726A>G (p.Pro242=) |
single nucleotide variant |
not provided [RCV003665276] |
Chr1:169477236 [GRCh38] Chr1:169446474 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.808-10T>G |
single nucleotide variant |
not provided [RCV003839744] |
Chr1:169470196 [GRCh38] Chr1:169439434 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.447G>T (p.Val149=) |
single nucleotide variant |
not provided [RCV003667092] |
Chr1:169477515 [GRCh38] Chr1:169446753 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.903G>A (p.Trp301Ter) |
single nucleotide variant |
not provided [RCV003668167] |
Chr1:169470091 [GRCh38] Chr1:169439329 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.556_557insTTGGT (p.Ser186fs) |
insertion |
not provided [RCV003701652] |
Chr1:169477405..169477406 [GRCh38] Chr1:169446643..169446644 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.1005C>T (p.Gly335=) |
single nucleotide variant |
not provided [RCV003725182] |
Chr1:169469989 [GRCh38] Chr1:169439227 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.205-13dup |
duplication |
not provided [RCV003814097] |
Chr1:169477769..169477770 [GRCh38] Chr1:169447007..169447008 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.205-18T>G |
single nucleotide variant |
not provided [RCV003667734] |
Chr1:169477775 [GRCh38] Chr1:169447013 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.144G>C (p.Pro48=) |
single nucleotide variant |
not provided [RCV003580221] |
Chr1:169485623 [GRCh38] Chr1:169454861 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.438C>T (p.Tyr146=) |
single nucleotide variant |
not provided [RCV003723899] |
Chr1:169477524 [GRCh38] Chr1:169446762 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1464A>G (p.Pro488=) |
single nucleotide variant |
not provided [RCV003835832] |
Chr1:169465879 [GRCh38] Chr1:169435117 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1366-4del |
deletion |
not provided [RCV003717365] |
Chr1:169465981 [GRCh38] Chr1:169435219 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1476T>G (p.Ser492=) |
single nucleotide variant |
not provided [RCV003700239] |
Chr1:169465867 [GRCh38] Chr1:169435105 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.528G>T (p.Gly176=) |
single nucleotide variant |
not provided [RCV003815881] |
Chr1:169477434 [GRCh38] Chr1:169446672 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1407T>C (p.Val469=) |
single nucleotide variant |
not provided [RCV003668622] |
Chr1:169465936 [GRCh38] Chr1:169435174 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1209C>T (p.Leu403=) |
single nucleotide variant |
not provided [RCV003814830] |
Chr1:169468658 [GRCh38] Chr1:169437896 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.205-20T>G |
single nucleotide variant |
not provided [RCV003814558] |
Chr1:169477777 [GRCh38] Chr1:169447015 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.753G>A (p.Glu251=) |
single nucleotide variant |
not provided [RCV003849949] |
Chr1:169477209 [GRCh38] Chr1:169446447 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.102C>T (p.Thr34=) |
single nucleotide variant |
not provided [RCV003697250] |
Chr1:169485665 [GRCh38] Chr1:169454903 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.90_91inv (p.Trp30_Phe31delinsTer) |
inversion |
not provided [RCV003667543] |
Chr1:169485676..169485677 [GRCh38] Chr1:169454914..169454915 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.369C>A (p.Ala123=) |
single nucleotide variant |
not provided [RCV003854671] |
Chr1:169477593 [GRCh38] Chr1:169446831 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.205-18T>C |
single nucleotide variant |
not provided [RCV003663760] |
Chr1:169477775 [GRCh38] Chr1:169447013 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.195C>G (p.Thr65=) |
single nucleotide variant |
not provided [RCV003665989] |
Chr1:169485572 [GRCh38] Chr1:169454810 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.473C>G (p.Thr158Arg) |
single nucleotide variant |
not provided [RCV003562306] |
Chr1:169477489 [GRCh38] Chr1:169446727 [GRCh37] Chr1:1q24.2 |
likely pathogenic |
NM_006996.3(SLC19A2):c.239C>G (p.Ser80Cys) |
single nucleotide variant |
not provided [RCV003566291] |
Chr1:169477723 [GRCh38] Chr1:169446961 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.987T>C (p.Ala329=) |
single nucleotide variant |
not provided [RCV003676601] |
Chr1:169470007 [GRCh38] Chr1:169439245 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1275T>C (p.Gly425=) |
single nucleotide variant |
not provided [RCV003707229] |
Chr1:169468201 [GRCh38] Chr1:169437439 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.975T>G (p.Pro325=) |
single nucleotide variant |
not provided [RCV003681039] |
Chr1:169470019 [GRCh38] Chr1:169439257 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.567C>T (p.Ser189=) |
single nucleotide variant |
not provided [RCV003862789] |
Chr1:169477395 [GRCh38] Chr1:169446633 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.204+4CG[4] |
microsatellite |
not provided [RCV003542096] |
Chr1:169485553..169485554 [GRCh38] Chr1:169454791..169454792 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.807+13T>G |
single nucleotide variant |
not provided [RCV003679244] |
Chr1:169477142 [GRCh38] Chr1:169446380 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.309G>T (p.Leu103=) |
single nucleotide variant |
not provided [RCV003859307] |
Chr1:169477653 [GRCh38] Chr1:169446891 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1410C>T (p.Phe470=) |
single nucleotide variant |
not provided [RCV003568012] |
Chr1:169465933 [GRCh38] Chr1:169435171 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.497T>A (p.Leu166Ter) |
single nucleotide variant |
not provided [RCV003552680] |
Chr1:169477465 [GRCh38] Chr1:169446703 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.60G>C (p.Leu20=) |
single nucleotide variant |
not provided [RCV003566510] |
Chr1:169485707 [GRCh38] Chr1:169454945 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.555G>A (p.Trp185Ter) |
single nucleotide variant |
not provided [RCV003709160] |
Chr1:169477407 [GRCh38] Chr1:169446645 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.1308G>A (p.Thr436=) |
single nucleotide variant |
not provided [RCV003844092] |
Chr1:169468168 [GRCh38] Chr1:169437406 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.57C>G (p.Leu19=) |
single nucleotide variant |
not provided [RCV003709016] |
Chr1:169485710 [GRCh38] Chr1:169454948 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1366-4C>T |
single nucleotide variant |
not provided [RCV003681449] |
Chr1:169465981 [GRCh38] Chr1:169435219 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1200C>T (p.Tyr400=) |
single nucleotide variant |
not provided [RCV003864398] |
Chr1:169468667 [GRCh38] Chr1:169437905 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1366-15T>C |
single nucleotide variant |
not provided [RCV003709426] |
Chr1:169465992 [GRCh38] Chr1:169435230 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1485C>T (p.Thr495=) |
single nucleotide variant |
not provided [RCV003711778] |
Chr1:169465858 [GRCh38] Chr1:169435096 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.12C>G (p.Pro4=) |
single nucleotide variant |
not provided [RCV003674725] |
Chr1:169485755 [GRCh38] Chr1:169454993 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.673C>T (p.Gln225Ter) |
single nucleotide variant |
not provided [RCV003563506] |
Chr1:169477289 [GRCh38] Chr1:169446527 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.1359C>T (p.Thr453=) |
single nucleotide variant |
not provided [RCV003819280] |
Chr1:169468117 [GRCh38] Chr1:169437355 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.510A>C (p.Thr170=) |
single nucleotide variant |
not provided [RCV003683857] |
Chr1:169477452 [GRCh38] Chr1:169446690 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.288T>C (p.Arg96=) |
single nucleotide variant |
not provided [RCV003819354] |
Chr1:169477674 [GRCh38] Chr1:169446912 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1189A>T (p.Arg397Ter) |
single nucleotide variant |
not provided [RCV003562303] |
Chr1:169468678 [GRCh38] Chr1:169437916 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.267C>T (p.Phe89=) |
single nucleotide variant |
not provided [RCV003566365] |
Chr1:169477695 [GRCh38] Chr1:169446933 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1365+18G>T |
single nucleotide variant |
not provided [RCV003563463] |
Chr1:169468093 [GRCh38] Chr1:169437331 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.243C>T (p.Tyr81=) |
single nucleotide variant |
not provided [RCV003871120] |
Chr1:169477719 [GRCh38] Chr1:169446957 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.891C>T (p.Cys297=) |
single nucleotide variant |
not provided [RCV003736040] |
Chr1:169470103 [GRCh38] Chr1:169439341 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1245C>A (p.Leu415=) |
single nucleotide variant |
not provided [RCV003866510] |
Chr1:169468231 [GRCh38] Chr1:169437469 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1030+17A>G |
single nucleotide variant |
not provided [RCV003567512] |
Chr1:169469947 [GRCh38] Chr1:169439185 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.18G>T (p.Pro6=) |
single nucleotide variant |
not provided [RCV003857857] |
Chr1:169485749 [GRCh38] Chr1:169454987 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.204+18G>T |
single nucleotide variant |
not provided [RCV003567639] |
Chr1:169485545 [GRCh38] Chr1:169454783 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.405A>G (p.Thr135=) |
single nucleotide variant |
not provided [RCV003844455] |
Chr1:169477557 [GRCh38] Chr1:169446795 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1224-4dup |
duplication |
not provided [RCV003553289] |
Chr1:169468255..169468256 [GRCh38] Chr1:169437493..169437494 [GRCh37] Chr1:1q24.2 |
benign |
NM_006996.3(SLC19A2):c.528G>A (p.Gly176=) |
single nucleotide variant |
not provided [RCV003682365] |
Chr1:169477434 [GRCh38] Chr1:169446672 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.528G>C (p.Gly176=) |
single nucleotide variant |
not provided [RCV003557429] |
Chr1:169477434 [GRCh38] Chr1:169446672 [GRCh37] Chr1:1q24.2 |
likely benign |
GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1 |
copy number loss |
not specified [RCV003987250] |
Chr1:167994071..187711459 [GRCh37] Chr1:1q24.2-31.1 |
pathogenic |
NM_006996.3(SLC19A2):c.462C>T (p.Tyr154=) |
single nucleotide variant |
not provided [RCV003721206] |
Chr1:169477500 [GRCh38] Chr1:169446738 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.72G>A (p.Arg24=) |
single nucleotide variant |
not provided [RCV003678739] |
Chr1:169485695 [GRCh38] Chr1:169454933 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.808-6A>G |
single nucleotide variant |
not provided [RCV003721931] |
Chr1:169470192 [GRCh38] Chr1:169439430 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1395C>T (p.Leu465=) |
single nucleotide variant |
not provided [RCV003685395] |
Chr1:169465948 [GRCh38] Chr1:169435186 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.253C>T (p.Leu85=) |
single nucleotide variant |
not provided [RCV003866359] |
Chr1:169477709 [GRCh38] Chr1:169446947 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.66C>T (p.Thr22=) |
single nucleotide variant |
not provided [RCV003844064] |
Chr1:169485701 [GRCh38] Chr1:169454939 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1491A>G (p.Ser497=) |
single nucleotide variant |
not provided [RCV003552720] |
Chr1:169465852 [GRCh38] Chr1:169435090 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.924C>T (p.Gly308=) |
single nucleotide variant |
not provided [RCV003734084] |
Chr1:169470070 [GRCh38] Chr1:169439308 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.72G>C (p.Arg24=) |
single nucleotide variant |
not provided [RCV003675236] |
Chr1:169485695 [GRCh38] Chr1:169454933 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.696A>G (p.Val232=) |
single nucleotide variant |
not provided [RCV003679889] |
Chr1:169477266 [GRCh38] Chr1:169446504 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1365+15T>G |
single nucleotide variant |
not provided [RCV003863971] |
Chr1:169468096 [GRCh38] Chr1:169437334 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.429_432del (p.Tyr144fs) |
deletion |
not provided [RCV003853197] |
Chr1:169477530..169477533 [GRCh38] Chr1:169446768..169446771 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.1370del (p.Phe456_Leu457insTer) |
deletion |
not provided [RCV003562302] |
Chr1:169465973 [GRCh38] Chr1:169435211 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.759dup (p.Glu254Ter) |
duplication |
not provided [RCV003562304] |
Chr1:169477202..169477203 [GRCh38] Chr1:169446440..169446441 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.825T>C (p.Arg275=) |
single nucleotide variant |
not provided [RCV003709166] |
Chr1:169470169 [GRCh38] Chr1:169439407 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1030+8A>G |
single nucleotide variant |
not provided [RCV003846381] |
Chr1:169469956 [GRCh38] Chr1:169439194 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1176C>T (p.Ser392=) |
single nucleotide variant |
not provided [RCV003860751] |
Chr1:169468691 [GRCh38] Chr1:169437929 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.808-6A>C |
single nucleotide variant |
not provided [RCV003678122] |
Chr1:169470192 [GRCh38] Chr1:169439430 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.111C>G (p.Leu37=) |
single nucleotide variant |
not provided [RCV003563539] |
Chr1:169485656 [GRCh38] Chr1:169454894 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.240T>C (p.Ser80=) |
single nucleotide variant |
not provided [RCV003551455] |
Chr1:169477722 [GRCh38] Chr1:169446960 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1263C>T (p.Ala421=) |
single nucleotide variant |
not provided [RCV003848101] |
Chr1:169468213 [GRCh38] Chr1:169437451 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1263C>A (p.Ala421=) |
single nucleotide variant |
not provided [RCV003861150] |
Chr1:169468213 [GRCh38] Chr1:169437451 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1223+10_1223+19del |
deletion |
not provided [RCV003864633] |
Chr1:169468625..169468634 [GRCh38] Chr1:169437863..169437872 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1223+16C>T |
single nucleotide variant |
not provided [RCV003845047] |
Chr1:169468628 [GRCh38] Chr1:169437866 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1224-8T>C |
single nucleotide variant |
not provided [RCV003846952] |
Chr1:169468260 [GRCh38] Chr1:169437498 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1214C>G (p.Thr405Arg) |
single nucleotide variant |
not provided [RCV003709861] |
Chr1:169468653 [GRCh38] Chr1:169437891 [GRCh37] Chr1:1q24.2 |
likely pathogenic |
NM_006996.3(SLC19A2):c.1033G>A (p.Ala345Thr) |
single nucleotide variant |
not specified [RCV003988283] |
Chr1:169468834 [GRCh38] Chr1:169438072 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.285C>T (p.Leu95=) |
single nucleotide variant |
SLC19A2-related disorder [RCV003983662] |
Chr1:169477677 [GRCh38] Chr1:169446915 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.1179T>C (p.Tyr393=) |
single nucleotide variant |
SLC19A2-related disorder [RCV003964611] |
Chr1:169468688 [GRCh38] Chr1:169437926 [GRCh37] Chr1:1q24.2 |
likely benign |
NM_006996.3(SLC19A2):c.581C>T (p.Ser194Phe) |
single nucleotide variant |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV003985004] |
Chr1:169477381 [GRCh38] Chr1:169446619 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1072T>A (p.Trp358Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004448631] |
Chr1:169468795 [GRCh38] Chr1:169438033 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1121C>T (p.Ala374Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004448632] |
Chr1:169468746 [GRCh38] Chr1:169437984 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.56T>C (p.Leu19Pro) |
single nucleotide variant |
not provided [RCV003884225] |
Chr1:169485711 [GRCh38] Chr1:169454949 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.216A>C (p.Glu72Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004448633] |
Chr1:169477746 [GRCh38] Chr1:169446984 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.566_567delinsTCT (p.Ser189fs) |
indel |
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness [RCV004596677] |
Chr1:169477395..169477396 [GRCh38] Chr1:169446633..169446634 [GRCh37] Chr1:1q24.2 |
pathogenic |
NC_000001.10:g.(?_169439182)_(169447015_?)del |
deletion |
not provided [RCV004579148] |
Chr1:169439182..169447015 [GRCh37] Chr1:1q24.2 |
pathogenic |
NC_000001.10:g.(?_169435087)_(169439444_?)del |
deletion |
not provided [RCV004579149] |
Chr1:169435087..169439444 [GRCh37] Chr1:1q24.2 |
pathogenic |
NC_000001.10:g.(?_169446833)_(169454047_?)del |
deletion |
not provided [RCV004579150] |
Chr1:169446833..169454047 [GRCh37] Chr1:1q24.2 |
pathogenic |
NM_006996.3(SLC19A2):c.346C>T (p.Leu116Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004672182] |
Chr1:169477616 [GRCh38] Chr1:169446854 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1201A>G (p.Met401Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004676553] |
Chr1:169468666 [GRCh38] Chr1:169437904 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.895T>A (p.Ser299Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004676554] |
Chr1:169470099 [GRCh38] Chr1:169439337 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1267G>C (p.Val423Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004672183] |
Chr1:169468209 [GRCh38] Chr1:169437447 [GRCh37] Chr1:1q24.2 |
uncertain significance |
NM_006996.3(SLC19A2):c.1223C>T (p.Thr408Ile) |
single nucleotide variant |
not provided [RCV004592232] |
Chr1:169468644 [GRCh38] Chr1:169437882 [GRCh37] Chr1:1q24.2 |
uncertain significance |