NM_000341.4(SLC3A1):c.1597T>A (p.Tyr533Asn) |
single nucleotide variant |
Cystinuria [RCV000030727] |
Chr2:44313931 [GRCh38] Chr2:44541070 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) |
single nucleotide variant |
Cystinuria [RCV000019743]|not provided [RCV000413736] |
Chr2:44312653 [GRCh38] Chr2:44539792 [GRCh37] Chr2:2p21 |
pathogenic|likely pathogenic |
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) |
single nucleotide variant |
Cystinuria [RCV000019744] |
Chr2:44312653 [GRCh38] Chr2:44539792 [GRCh37] Chr2:2p21 |
pathogenic|conflicting interpretations of pathogenicity |
NM_000341.4(SLC3A1):c.2033T>C (p.Leu678Pro) |
single nucleotide variant |
Cystinuria [RCV000019745] |
Chr2:44320614 [GRCh38] Chr2:44547753 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.542G>A (p.Arg181Gln) |
single nucleotide variant |
Cystinuria [RCV000019746] |
Chr2:44280827 [GRCh38] Chr2:44507966 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.1955C>G (p.Thr652Arg) |
single nucleotide variant |
Cystinuria [RCV000019747] |
Chr2:44320536 [GRCh38] Chr2:44547675 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.1843C>A (p.Pro615Thr) |
single nucleotide variant |
Cystinuria [RCV000019748]|not specified [RCV001170048] |
Chr2:44320424 [GRCh38] Chr2:44547563 [GRCh37] Chr2:2p21 |
pathogenic|uncertain significance |
SLC3A1, EX5-9DUP |
duplication |
Cystinuria [RCV000019749] |
Chr2:2p16.3 |
pathogenic |
NM_000341.4(SLC3A1):c.1085G>A (p.Arg362His) |
single nucleotide variant |
Cystinuria [RCV000019750] |
Chr2:44301076 [GRCh38] Chr2:44528215 [GRCh37] Chr2:2p21 |
pathogenic|uncertain significance |
NM_000341.4(SLC3A1):c.918G>T (p.Lys306Asn) |
single nucleotide variant |
not provided [RCV000722939] |
Chr2:44299997 [GRCh38] Chr2:44527136 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.334C>T (p.Pro112Ser) |
single nucleotide variant |
not provided [RCV000722393] |
Chr2:44275869 [GRCh38] Chr2:44503008 [GRCh37] Chr2:2p21 |
uncertain significance |
GRCh38/hg38 2p21(chr2:44286091-44372899)x1 |
copy number loss |
See cases [RCV000052119] |
Chr2:44286091..44372899 [GRCh38] Chr2:44513230..44600038 [GRCh37] Chr2:44366734..44453542 [NCBI36] Chr2:2p21 |
uncertain significance |
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 |
copy number gain |
See cases [RCV000052933] |
Chr2:66097..55570637 [GRCh38] Chr2:66097..55797773 [GRCh37] Chr2:56097..55651277 [NCBI36] Chr2:2p25.3-16.1 |
pathogenic |
GRCh38/hg38 2p22.3-21(chr2:32849247-45016061)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|See cases [RCV000052942] |
Chr2:32849247..45016061 [GRCh38] Chr2:33074314..45243200 [GRCh37] Chr2:32927818..45096704 [NCBI36] Chr2:2p22.3-21 |
pathogenic |
GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 |
copy number gain |
See cases [RCV000052943] |
Chr2:40738282..57863821 [GRCh38] Chr2:40965422..58090956 [GRCh37] Chr2:40818926..57944460 [NCBI36] Chr2:2p22.1-16.1 |
pathogenic |
NM_000341.3(SLC3A1):c.1921G>A (p.Asp641Asn) |
single nucleotide variant |
Malignant melanoma [RCV000065604] |
Chr2:44320502 [GRCh38] Chr2:44547641 [GRCh37] Chr2:44401145 [NCBI36] Chr2:2p21 |
not provided |
GRCh37/hg19 2p21(chr2:44519680-44543829)x3 |
copy number gain |
not specified [RCV000234899] |
Chr2:44519680..44543829 [GRCh37] Chr2:2p21 |
uncertain significance |
GRCh38/hg38 2p21(chr2:44303991-44325759)x1 |
copy number loss |
See cases [RCV000135324] |
Chr2:44303991..44325759 [GRCh38] Chr2:44531130..44552898 [GRCh37] Chr2:44384634..44406402 [NCBI36] Chr2:2p21 |
pathogenic |
GRCh38/hg38 2p21(chr2:43762375-44960289)x3 |
copy number gain |
See cases [RCV000135631] |
Chr2:43762375..44960289 [GRCh38] Chr2:43989514..45187428 [GRCh37] Chr2:43843018..45040932 [NCBI36] Chr2:2p21 |
pathogenic|uncertain significance |
GRCh38/hg38 2p21(chr2:43676810-45016061)x3 |
copy number gain |
See cases [RCV000137089] |
Chr2:43676810..45016061 [GRCh38] Chr2:43903949..45243200 [GRCh37] Chr2:43757453..45096704 [NCBI36] Chr2:2p21 |
uncertain significance |
GRCh38/hg38 2p21(chr2:44291298-44315779)x3 |
copy number gain |
See cases [RCV000138977] |
Chr2:44291298..44315779 [GRCh38] Chr2:44518437..44542918 [GRCh37] Chr2:44371941..44396422 [NCBI36] Chr2:2p21 |
likely benign |
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 |
copy number gain |
See cases [RCV000141494] |
Chr2:7495123..87705899 [GRCh38] Chr2:7635254..88005418 [GRCh37] Chr2:7552705..87786533 [NCBI36] Chr2:2p25.1-11.2 |
benign |
GRCh38/hg38 2p21(chr2:44283642-44298735)x1 |
copy number loss |
See cases [RCV000141520] |
Chr2:44283642..44298735 [GRCh38] Chr2:44510781..44525874 [GRCh37] Chr2:44364285..44379378 [NCBI36] Chr2:2p21 |
benign |
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 |
copy number gain |
See cases [RCV000143682] |
Chr2:236816..45983232 [GRCh38] Chr2:236816..46210371 [GRCh37] Chr2:226816..46063875 [NCBI36] Chr2:2p25.3-21 |
pathogenic |
GRCh38/hg38 2p21(chr2:44307367-44316296)x0 |
copy number loss |
See cases [RCV000143633] |
Chr2:44307367..44316296 [GRCh38] Chr2:44534506..44543435 [GRCh37] Chr2:44388010..44396939 [NCBI36] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.1854G>A (p.Met618Ile) |
single nucleotide variant |
Cystinuria [RCV000261712] |
Chr2:44320435 [GRCh38] Chr2:44547574 [GRCh37] Chr2:2p21 |
benign |
NM_000341.4(SLC3A1):c.1275_1276dup (p.Glu426fs) |
duplication |
Cystinuria [RCV000192842] |
Chr2:44304280..44304281 [GRCh38] Chr2:44531419..44531420 [GRCh37] Chr2:2p21 |
likely pathogenic |
NM_000341.4(SLC3A1):c.50G>C (p.Gly17Ala) |
single nucleotide variant |
not provided [RCV000756650] |
Chr2:44275585 [GRCh38] Chr2:44502724 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1269C>T (p.Ser423=) |
single nucleotide variant |
Cystinuria [RCV000285583] |
Chr2:44304275 [GRCh38] Chr2:44531414 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.*131T>C |
single nucleotide variant |
Cystinuria [RCV000286287] |
Chr2:44320770 [GRCh38] Chr2:44547909 [GRCh37] Chr2:2p21 |
benign |
NM_000341.4(SLC3A1):c.1137-3T>C |
single nucleotide variant |
Cystinuria [RCV000279645]|not provided [RCV000983874] |
Chr2:44304140 [GRCh38] Chr2:44531279 [GRCh37] Chr2:2p21 |
likely benign|uncertain significance |
NM_000341.4(SLC3A1):c.1767C>T (p.Ile589=) |
single nucleotide variant |
Cystinuria [RCV000274787] |
Chr2:44320348 [GRCh38] Chr2:44547487 [GRCh37] Chr2:2p21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000341.4(SLC3A1):c.395A>G (p.Lys132Arg) |
single nucleotide variant |
Cystinuria [RCV000266142] |
Chr2:44275930 [GRCh38] Chr2:44503069 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.788G>C (p.Ser263Thr) |
single nucleotide variant |
Cystinuria [RCV000277152] |
Chr2:44286054 [GRCh38] Chr2:44513193 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1136+3del |
deletion |
Cystinuria [RCV000374131]|not specified [RCV000455732] |
Chr2:44301129 [GRCh38] Chr2:44528268 [GRCh37] Chr2:2p21 |
benign|likely benign |
NM_000341.4(SLC3A1):c.24A>C (p.Arg8Ser) |
single nucleotide variant |
Cystinuria [RCV000300293] |
Chr2:44275559 [GRCh38] Chr2:44502698 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1717T>C (p.Leu573=) |
single nucleotide variant |
Cystinuria [RCV000314915] |
Chr2:44320298 [GRCh38] Chr2:44547437 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1973G>A (p.Arg658His) |
single nucleotide variant |
Cystinuria [RCV000316994] |
Chr2:44320554 [GRCh38] Chr2:44547693 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.114A>C (p.Gly38=) |
single nucleotide variant |
Cystinuria [RCV000336500] |
Chr2:44275649 [GRCh38] Chr2:44502788 [GRCh37] Chr2:2p21 |
benign |
NM_000341.4(SLC3A1):c.417C>T (p.Asn139=) |
single nucleotide variant |
Cystinuria [RCV000302526]|not provided [RCV000960636] |
Chr2:44275952 [GRCh38] Chr2:44503091 [GRCh37] Chr2:2p21 |
likely benign|uncertain significance |
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp) |
single nucleotide variant |
Cystinuria [RCV000402894] |
Chr2:44312607 [GRCh38] Chr2:44539746 [GRCh37] Chr2:2p21 |
pathogenic|likely pathogenic |
NM_000341.4(SLC3A1):c.1258T>G (p.Ser420Ala) |
single nucleotide variant |
Cystinuria [RCV000403183] |
Chr2:44304264 [GRCh38] Chr2:44531403 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1074C>T (p.His358=) |
single nucleotide variant |
Cystinuria [RCV000338143] |
Chr2:44301065 [GRCh38] Chr2:44528204 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.685C>T (p.Arg229Trp) |
single nucleotide variant |
Cystinuria [RCV000380957] |
Chr2:44281461 [GRCh38] Chr2:44508600 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.184G>A (p.Val62Ile) |
single nucleotide variant |
Cystinuria [RCV000306048] |
Chr2:44275719 [GRCh38] Chr2:44502858 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1332+7C>T |
single nucleotide variant |
Cystinuria [RCV000340572] |
Chr2:44304345 [GRCh38] Chr2:44531484 [GRCh37] Chr2:2p21 |
benign |
NM_000341.4(SLC3A1):c.303C>T (p.Ile101=) |
single nucleotide variant |
Cystinuria [RCV000360830] |
Chr2:44275838 [GRCh38] Chr2:44502977 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1012G>C (p.Asp338His) |
single nucleotide variant |
Cystinuria [RCV000292340] |
Chr2:44301003 [GRCh38] Chr2:44528142 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.892-6C>G |
single nucleotide variant |
Cystinuria [RCV000386636] |
Chr2:44299965 [GRCh38] Chr2:44527104 [GRCh37] Chr2:2p21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000341.4(SLC3A1):c.1510C>T (p.Arg504Cys) |
single nucleotide variant |
Cystinuria [RCV000363780]|not provided [RCV000756651] |
Chr2:44313844 [GRCh38] Chr2:44540983 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.572A>G (p.Glu191Gly) |
single nucleotide variant |
Cystinuria [RCV000326268] |
Chr2:44280857 [GRCh38] Chr2:44507996 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.460G>T (p.Ala154Ser) |
single nucleotide variant |
Cystinuria [RCV000365790] |
Chr2:44280745 [GRCh38] Chr2:44507884 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1810C>T (p.Leu604=) |
single nucleotide variant |
Cystinuria [RCV000330023] |
Chr2:44320391 [GRCh38] Chr2:44547530 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter) |
single nucleotide variant |
Cystinuria [RCV000332132] |
Chr2:44286074 [GRCh38] Chr2:44513213 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.1500+1G>T |
single nucleotide variant |
Cystinuria [RCV001037564]|not provided [RCV000273419] |
Chr2:44312754 [GRCh38] Chr2:44539893 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.478G>C (p.Val160Leu) |
single nucleotide variant |
Cystinuria [RCV000271200] |
Chr2:44280763 [GRCh38] Chr2:44507902 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1381T>C (p.Tyr461His) |
single nucleotide variant |
Cystinuria [RCV001048270]|not provided [RCV000319754] |
Chr2:44312634 [GRCh38] Chr2:44539773 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1334T>C (p.Ile445Thr) |
single nucleotide variant |
Cystinuria [RCV000490522] |
Chr2:44312587 [GRCh38] Chr2:44539726 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.194A>G (p.Tyr65Cys) |
single nucleotide variant |
not provided [RCV000722485] |
Chr2:44275729 [GRCh38] Chr2:44502868 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1200A>G (p.Pro400=) |
single nucleotide variant |
Cystinuria [RCV000334646] |
Chr2:44304206 [GRCh38] Chr2:44531345 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.3(SLC3A1):c.-65C>T |
single nucleotide variant |
Cystinuria [RCV000404757] |
Chr2:44275471 [GRCh38] Chr2:44502610 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.166G>A (p.Glu56Lys) |
single nucleotide variant |
Cystinuria [RCV000404471] |
Chr2:44275701 [GRCh38] Chr2:44502840 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1742T>G (p.Val581Gly) |
single nucleotide variant |
Cystinuria [RCV000369497] |
Chr2:44320323 [GRCh38] Chr2:44547462 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1495G>T (p.Asp499Tyr) |
single nucleotide variant |
Cystinuria [RCV000309116] |
Chr2:44312748 [GRCh38] Chr2:44539887 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.*100T>C |
single nucleotide variant |
Cystinuria [RCV000371656] |
Chr2:44320739 [GRCh38] Chr2:44547878 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1854_1859del (p.Met618_Arg619del) |
deletion |
Cystinuria [RCV000356718] |
Chr2:44320432..44320437 [GRCh38] Chr2:44547571..44547576 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1626G>T (p.Lys542Asn) |
single nucleotide variant |
Cystinuria [RCV000395912] |
Chr2:44320207 [GRCh38] Chr2:44547346 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.163del (p.Gln55fs) |
deletion |
Cystinuria [RCV001234999]|not provided [RCV000597459] |
Chr2:44275696 [GRCh38] Chr2:44502835 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.1494T>C (p.Tyr498=) |
single nucleotide variant |
Cystinuria [RCV001138417] |
Chr2:44312747 [GRCh38] Chr2:44539886 [GRCh37] Chr2:2p21 |
uncertain significance |
GRCh37/hg19 2p21(chr2:44505901-44581463)x1 |
copy number loss |
See cases [RCV000449359] |
Chr2:44505901..44581463 [GRCh37] Chr2:2p21 |
uncertain significance |
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 |
copy number gain |
See cases [RCV000454271] |
Chr2:27861707..60790985 [GRCh37] Chr2:2p23.3-16.1 |
pathogenic |
GRCh37/hg19 2p21(chr2:44506739-44581463)x1 |
copy number loss |
See cases [RCV000446252] |
Chr2:44506739..44581463 [GRCh37] Chr2:2p21 |
likely benign |
GRCh37/hg19 2p21(chr2:44506991-44581463)x1 |
copy number loss |
See cases [RCV000446767] |
Chr2:44506991..44581463 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs) |
deletion |
Cystinuria [RCV000416445] |
Chr2:44320330 [GRCh38] Chr2:44547469 [GRCh37] Chr2:2p21 |
likely pathogenic |
GRCh37/hg19 2p21(chr2:44412982-44610238)x1 |
copy number loss |
See cases [RCV000448532] |
Chr2:44412982..44610238 [GRCh37] Chr2:2p21 |
likely benign |
GRCh37/hg19 2p21(chr2:44490162-44600338)x1 |
copy number loss |
See cases [RCV000448422] |
Chr2:44490162..44600338 [GRCh37] Chr2:2p21 |
uncertain significance |
GRCh37/hg19 2p21(chr2:44466152-44606407)x1 |
copy number loss |
See cases [RCV000448238] |
Chr2:44466152..44606407 [GRCh37] Chr2:2p21 |
likely benign |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_000341.4(SLC3A1):c.1069_1084dup (p.Arg362fs) |
duplication |
Cystinuria [RCV000497086] |
Chr2:44301059..44301060 [GRCh38] Chr2:44528198..44528199 [GRCh37] Chr2:2p21 |
pathogenic |
NC_000002.11:g.38121110_47669522inv |
inversion |
Lynch syndrome [RCV000494356] |
Chr2:38121110..47669522 [GRCh37] Chr2:2p22.2-21 |
pathogenic |
GRCh37/hg19 2p21(chr2:43386188-45013725)x3 |
copy number gain |
See cases [RCV000511805] |
Chr2:43386188..45013725 [GRCh37] Chr2:2p21 |
likely pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NC_000002.12:g.(?_44280696)_(44346410_?)del |
deletion |
Cystinuria [RCV000630481] |
Chr2:44280696..44346410 [GRCh38] Chr2:44507835..44573549 [GRCh37] Chr2:2p21 |
likely pathogenic |
NM_000341.4(SLC3A1):c.231T>A (p.Ser77=) |
single nucleotide variant |
Cystinuria [RCV001000375] |
Chr2:44275766 [GRCh38] Chr2:44502905 [GRCh37] Chr2:2p21 |
benign|conflicting interpretations of pathogenicity |
NM_000341.4(SLC3A1):c.592del (p.Ala198fs) |
deletion |
Cystinuria [RCV001257095]|Nephrocalcinosis [RCV000662323] |
Chr2:44280877 [GRCh38] Chr2:44508016 [GRCh37] Chr2:2p21 |
pathogenic|likely pathogenic |
GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3 |
copy number gain |
not provided [RCV000682169] |
Chr2:34792916..56676541 [GRCh37] Chr2:2p22.3-16.1 |
pathogenic |
GRCh37/hg19 2p21(chr2:44506991-44581463)x1 |
copy number loss |
not provided [RCV000681989] |
Chr2:44506991..44581463 [GRCh37] Chr2:2p21 |
likely benign|uncertain significance |
Single allele |
deletion |
Premature ovarian insufficiency [RCV000766145] |
Chr2:44277853..44353364 [GRCh38] Chr2:44504991..44580502 [GRCh37] Chr2:2p21 |
pathogenic |
GRCh37/hg19 2p21(chr2:44412415-44621042)x1 |
copy number loss |
not provided [RCV000682031] |
Chr2:44412415..44621042 [GRCh37] Chr2:2p21 |
uncertain significance |
Single allele |
inversion |
not provided [RCV000714264] |
Chr2:40608411..146900718 [GRCh37] Chr2:2p22.1-q22.3 |
likely pathogenic |
NM_000341.4(SLC3A1):c.766-1G>T |
single nucleotide variant |
not provided [RCV000681939] |
Chr2:44286031 [GRCh38] Chr2:44513170 [GRCh37] Chr2:2p21 |
likely pathogenic |
NM_000341.4(SLC3A1):c.1701G>T (p.Arg567Ser) |
single nucleotide variant |
not provided [RCV000681751] |
Chr2:44320282 [GRCh38] Chr2:44547421 [GRCh37] Chr2:2p21 |
likely pathogenic |
NM_000341.4(SLC3A1):c.1094G>A (p.Arg365Gln) |
single nucleotide variant |
Cystinuria [RCV001067849]|not provided [RCV000681750] |
Chr2:44301085 [GRCh38] Chr2:44528224 [GRCh37] Chr2:2p21 |
likely pathogenic|uncertain significance |
NM_000341.4(SLC3A1):c.777T>G (p.Tyr259Ter) |
single nucleotide variant |
not provided [RCV000681767] |
Chr2:44286043 [GRCh38] Chr2:44513182 [GRCh37] Chr2:2p21 |
likely pathogenic |
NM_000341.4(SLC3A1):c.430+2T>G |
single nucleotide variant |
Cystinuria [RCV000688389] |
Chr2:44275967 [GRCh38] Chr2:44503106 [GRCh37] Chr2:2p21 |
likely pathogenic |
NC_000002.12:g.(?_44280716)_(44346390_?)del |
deletion |
Myasthenic syndrome, congenital, 22 [RCV000708527] |
Chr2:44280716..44346390 [GRCh38] Chr2:44507855..44573529 [GRCh37] Chr2:2p21 |
pathogenic|likely pathogenic |
GRCh37/hg19 2p21(chr2:44543435-44604017)x3 |
copy number gain |
not provided [RCV000845778] |
Chr2:44543435..44604017 [GRCh37] Chr2:2p21 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 |
copy number gain |
not provided [RCV000752875] |
Chr2:22665048..52850368 [GRCh37] Chr2:2p24.1-16.3 |
pathogenic |
GRCh37/hg19 2p21(chr2:44507213-44631592)x1 |
copy number loss |
not provided [RCV000740402] |
Chr2:44507213..44631592 [GRCh37] Chr2:2p21 |
benign |
GRCh37/hg19 2p21(chr2:44510808-44543671)x4 |
copy number gain |
not provided [RCV000740403] |
Chr2:44510808..44543671 [GRCh37] Chr2:2p21 |
benign |
GRCh37/hg19 2p21(chr2:44515068-44543671)x3 |
copy number gain |
not provided [RCV000740404] |
Chr2:44515068..44543671 [GRCh37] Chr2:2p21 |
benign |
NM_000341.4(SLC3A1):c.1474G>A (p.Ala492Thr) |
single nucleotide variant |
not provided [RCV000756652] |
Chr2:44312727 [GRCh38] Chr2:44539866 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001171613.2(PREPL):c.1844A>G (p.Lys615Arg) |
single nucleotide variant |
Myasthenic syndrome, congenital, 22 [RCV001068453] |
Chr2:44321429 [GRCh38] Chr2:44548568 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1889G>A (p.Gly630Asp) |
single nucleotide variant |
Cystinuria [RCV001140994]|not provided [RCV000904972] |
Chr2:44320470 [GRCh38] Chr2:44547609 [GRCh37] Chr2:2p21 |
likely benign|uncertain significance |
NM_000341.4(SLC3A1):c.300C>T (p.Leu100=) |
single nucleotide variant |
Cystinuria [RCV000884172] |
Chr2:44275835 [GRCh38] Chr2:44502974 [GRCh37] Chr2:2p21 |
benign|conflicting interpretations of pathogenicity |
NM_000341.4(SLC3A1):c.892-9C>T |
single nucleotide variant |
Cystinuria [RCV000922980] |
Chr2:44299962 [GRCh38] Chr2:44527101 [GRCh37] Chr2:2p21 |
likely benign |
NM_000341.4(SLC3A1):c.891+8T>G |
single nucleotide variant |
not provided [RCV000943268] |
Chr2:44286165 [GRCh38] Chr2:44513304 [GRCh37] Chr2:2p21 |
likely benign |
NM_000341.4(SLC3A1):c.1398C>T (p.Asn466=) |
single nucleotide variant |
Cystinuria [RCV000967670] |
Chr2:44312651 [GRCh38] Chr2:44539790 [GRCh37] Chr2:2p21 |
benign|conflicting interpretations of pathogenicity |
NM_000341.4(SLC3A1):c.1572C>T (p.Asn524=) |
single nucleotide variant |
not provided [RCV000972534] |
Chr2:44313906 [GRCh38] Chr2:44541045 [GRCh37] Chr2:2p21 |
benign |
NM_000341.4(SLC3A1):c.672A>G (p.Gln224=) |
single nucleotide variant |
Cystinuria [RCV000899542] |
Chr2:44281448 [GRCh38] Chr2:44508587 [GRCh37] Chr2:2p21 |
benign |
NM_000341.4(SLC3A1):c.66C>T (p.Asn22=) |
single nucleotide variant |
Cystinuria [RCV000968928] |
Chr2:44275601 [GRCh38] Chr2:44502740 [GRCh37] Chr2:2p21 |
benign|conflicting interpretations of pathogenicity |
NM_000341.4(SLC3A1):c.247C>T (p.Arg83Cys) |
single nucleotide variant |
Cystinuria [RCV001041913] |
Chr2:44275782 [GRCh38] Chr2:44502921 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.*779C>T |
single nucleotide variant |
Myasthenic syndrome, congenital, 22 [RCV000541403]|not specified [RCV000502915] |
Chr2:44321418 [GRCh38] Chr2:44548557 [GRCh37] Chr2:2p21 |
benign|likely benign |
NM_000341.4(SLC3A1):c.1881C>T (p.Ala627=) |
single nucleotide variant |
Cystinuria [RCV001140993]|not provided [RCV000922544] |
Chr2:44320462 [GRCh38] Chr2:44547601 [GRCh37] Chr2:2p21 |
likely benign|uncertain significance |
NM_000341.4(SLC3A1):c.1641G>T (p.Ser547=) |
single nucleotide variant |
Cystinuria [RCV001138419]|not provided [RCV000923700] |
Chr2:44320222 [GRCh38] Chr2:44547361 [GRCh37] Chr2:2p21 |
likely benign|uncertain significance |
NM_000341.4(SLC3A1):c.1473C>T (p.Ala491=) |
single nucleotide variant |
Cystinuria [RCV000899454]|not provided [RCV001171945] |
Chr2:44312726 [GRCh38] Chr2:44539865 [GRCh37] Chr2:2p21 |
likely benign|conflicting interpretations of pathogenicity |
NM_000341.4(SLC3A1):c.318C>T (p.Ala106=) |
single nucleotide variant |
not provided [RCV000982689] |
Chr2:44275853 [GRCh38] Chr2:44502992 [GRCh37] Chr2:2p21 |
likely benign |
NM_000341.4(SLC3A1):c.1126G>A (p.Gly376Ser) |
single nucleotide variant |
Cystinuria [RCV000967785] |
Chr2:44301117 [GRCh38] Chr2:44528256 [GRCh37] Chr2:2p21 |
likely benign|conflicting interpretations of pathogenicity |
NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met) |
single nucleotide variant |
Cystinuria [RCV000880749] |
Chr2:44280851 [GRCh38] Chr2:44507990 [GRCh37] Chr2:2p21 |
likely benign|conflicting interpretations of pathogenicity |
NM_000341.4(SLC3A1):c.1701G>A (p.Arg567=) |
single nucleotide variant |
not provided [RCV000883466] |
Chr2:44320282 [GRCh38] Chr2:44547421 [GRCh37] Chr2:2p21 |
likely benign |
NM_000341.4(SLC3A1):c.1414C>T (p.Leu472Phe) |
single nucleotide variant |
Cystine urolithiasis [RCV000991109] |
Chr2:44312667 [GRCh38] Chr2:44539806 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.2011C>T (p.Arg671Ter) |
single nucleotide variant |
Cystine urolithiasis [RCV000991105]|Cystinuria [RCV001238859] |
Chr2:44320592 [GRCh38] Chr2:44547731 [GRCh37] Chr2:2p21 |
pathogenic|uncertain significance |
NC_000002.11:g.(?_44527090)_(44541110_?)dup |
duplication |
Cystinuria [RCV000803275] |
Chr2:44299951..44313971 [GRCh38] Chr2:44527090..44541110 [GRCh37] Chr2:2p21 |
pathogenic |
GRCh37/hg19 2p21(chr2:44546378-44590465)x1 |
copy number loss |
not provided [RCV000845939] |
Chr2:44546378..44590465 [GRCh37] Chr2:2p21 |
uncertain significance |
GRCh37/hg19 2p21(chr2:44507131-44571474)x1 |
copy number loss |
not provided [RCV000849046] |
Chr2:44507131..44571474 [GRCh37] Chr2:2p21 |
pathogenic |
NC_000002.12:g.(?_44321336)_(44346410_?)del |
deletion |
Myasthenic syndrome, congenital, 22 [RCV000708074] |
Chr2:44321336..44346410 [GRCh38] Chr2:44548475..44573549 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.*806T>A |
single nucleotide variant |
Myasthenic syndrome, congenital, 22 [RCV000691385] |
Chr2:44321445 [GRCh38] Chr2:44548584 [GRCh37] Chr2:2p21 |
uncertain significance |
NC_000002.12:g.(?_44321336)_(44359735_?)del |
deletion |
Myasthenic syndrome, congenital, 22 [RCV000537365] |
Chr2:44321336..44359735 [GRCh38] Chr2:2p21 |
pathogenic|uncertain significance |
NM_000341.4(SLC3A1):c.1744T>C (p.Tyr582His) |
single nucleotide variant |
Cystinuria [RCV000798029] |
Chr2:44320325 [GRCh38] Chr2:44547464 [GRCh37] Chr2:2p21 |
likely pathogenic |
NM_000341.4(SLC3A1):c.817T>C (p.Cys273Arg) |
single nucleotide variant |
Cystine urolithiasis [RCV000991116] |
Chr2:44286083 [GRCh38] Chr2:44513222 [GRCh37] Chr2:2p21 |
likely pathogenic |
NM_000341.4(SLC3A1):c.2020dup (p.Tyr674fs) |
duplication |
Cystinuria [RCV000796237] |
Chr2:44320600..44320601 [GRCh38] Chr2:44547739..44547740 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.*784A>G |
single nucleotide variant |
Myasthenic syndrome, congenital, 22 [RCV000697511] |
Chr2:44321423 [GRCh38] Chr2:44548562 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.797T>C (p.Phe266Ser) |
single nucleotide variant |
Cystinuria [RCV000963261] |
Chr2:44286063 [GRCh38] Chr2:44513202 [GRCh37] Chr2:2p21 |
benign|conflicting interpretations of pathogenicity |
GRCh37/hg19 2p21(chr2:44505901-44571649)x1 |
copy number loss |
not provided [RCV000846796] |
Chr2:44505901..44571649 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.508C>G (p.Leu170Val) |
single nucleotide variant |
Cystinuria [RCV001137888] |
Chr2:44280793 [GRCh38] Chr2:44507932 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.680G>A (p.Arg227Gln) |
single nucleotide variant |
Cystinuria [RCV001137891] |
Chr2:44281456 [GRCh38] Chr2:44508595 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1259C>G (p.Ser420Cys) |
single nucleotide variant |
Cystinuria [RCV001137997] |
Chr2:44304265 [GRCh38] Chr2:44531404 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1383T>C (p.Tyr461=) |
single nucleotide variant |
Cystinuria [RCV001137999] |
Chr2:44312636 [GRCh38] Chr2:44539775 [GRCh37] Chr2:2p21 |
uncertain significance |
GRCh37/hg19 2p21(chr2:44512970-44546016)x1 |
copy number loss |
not provided [RCV000847814] |
Chr2:44512970..44546016 [GRCh37] Chr2:2p21 |
pathogenic |
GRCh37/hg19 2p21(chr2:44514109-44545374)x3 |
copy number gain |
not provided [RCV000849099] |
Chr2:44514109..44545374 [GRCh37] Chr2:2p21 |
pathogenic |
GRCh37/hg19 2p21(chr2:44505901-44571474)x1 |
copy number loss |
not provided [RCV000847784] |
Chr2:44505901..44571474 [GRCh37] Chr2:2p21 |
pathogenic |
GRCh37/hg19 2p21(chr2:44507131-44571474)x1 |
copy number loss |
not provided [RCV000849808] |
Chr2:44507131..44571474 [GRCh37] Chr2:2p21 |
pathogenic |
GRCh37/hg19 2p21(chr2:44505901-44571649)x1 |
copy number loss |
not provided [RCV000849354] |
Chr2:44505901..44571649 [GRCh37] Chr2:2p21 |
pathogenic |
GRCh37/hg19 2p21(chr2:44479539-44552197)x1 |
copy number loss |
not provided [RCV000848501] |
Chr2:44479539..44552197 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.1012-1G>A |
single nucleotide variant |
Cystine urolithiasis [RCV000991118] |
Chr2:44301002 [GRCh38] Chr2:44528141 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.1640C>T (p.Ser547Leu) |
single nucleotide variant |
Cystine urolithiasis [RCV000991124]|Cystinuria [RCV001313669] |
Chr2:44320221 [GRCh38] Chr2:44547360 [GRCh37] Chr2:2p21 |
pathogenic|uncertain significance |
NM_000341.4(SLC3A1):c.322A>G (p.Ile108Val) |
single nucleotide variant |
Cystinuria [RCV001222465] |
Chr2:44275857 [GRCh38] Chr2:44502996 [GRCh37] Chr2:2p21 |
uncertain significance |
GRCh37/hg19 2p21(chr2:44438045-44546016)x1 |
copy number loss |
not provided [RCV000845630] |
Chr2:44438045..44546016 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.1113C>A (p.Tyr371Ter) |
single nucleotide variant |
Cystine urolithiasis [RCV000991110] |
Chr2:44301104 [GRCh38] Chr2:44528243 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.1332+2T>A |
single nucleotide variant |
Cystine urolithiasis [RCV000991122] |
Chr2:44304340 [GRCh38] Chr2:44531479 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.1326C>G (p.Asn442Lys) |
single nucleotide variant |
Cystine urolithiasis [RCV000991123] |
Chr2:44304332 [GRCh38] Chr2:44531471 [GRCh37] Chr2:2p21 |
likely pathogenic |
NM_000341.4(SLC3A1):c.929G>A (p.Gly310Asp) |
single nucleotide variant |
Cystinuria [RCV001238858] |
Chr2:44300008 [GRCh38] Chr2:44527147 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met) |
single nucleotide variant |
Cystinuria [RCV001213233] |
Chr2:44281423 [GRCh38] Chr2:44508562 [GRCh37] Chr2:2p21 |
pathogenic|likely pathogenic |
GRCh37/hg19 2p21(chr2:44517331-44546016)x1 |
copy number loss |
not provided [RCV000845833] |
Chr2:44517331..44546016 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.298C>T (p.Leu100Phe) |
single nucleotide variant |
Cystinuria [RCV001142633] |
Chr2:44275833 [GRCh38] Chr2:44502972 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.439G>C (p.Asp147His) |
single nucleotide variant |
Cystinuria [RCV001142635] |
Chr2:44280724 [GRCh38] Chr2:44507863 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.-16C>T |
single nucleotide variant |
Cystinuria [RCV001140022] |
Chr2:44275520 [GRCh38] Chr2:44502659 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.894A>G (p.Glu298=) |
single nucleotide variant |
Cystinuria [RCV001140138] |
Chr2:44299973 [GRCh38] Chr2:44527112 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.201G>T (p.Gly67=) |
single nucleotide variant |
Cystinuria [RCV001140778] |
Chr2:44275736 [GRCh38] Chr2:44502875 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.673T>G (p.Leu225Val) |
single nucleotide variant |
Cystinuria [RCV001137890] |
Chr2:44281449 [GRCh38] Chr2:44508588 [GRCh37] Chr2:2p21 |
uncertain significance |
NC_000002.12:g.(?_44299971)_(44318104_?)del |
deletion |
Cystinuria [RCV001032666] |
Chr2:44527110..44545243 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.264C>T (p.Ile88=) |
single nucleotide variant |
Cystinuria [RCV000907215] |
Chr2:44275799 [GRCh38] Chr2:44502938 [GRCh37] Chr2:2p21 |
likely benign |
NM_000341.4(SLC3A1):c.1035G>A (p.Glu345=) |
single nucleotide variant |
Cystinuria [RCV000974690] |
Chr2:44301026 [GRCh38] Chr2:44528165 [GRCh37] Chr2:2p21 |
benign|likely benign |
NM_000341.4(SLC3A1):c.1809A>C (p.Thr603=) |
single nucleotide variant |
not provided [RCV000973984] |
Chr2:44320390 [GRCh38] Chr2:44547529 [GRCh37] Chr2:2p21 |
likely benign |
NM_000341.4(SLC3A1):c.1125C>T (p.Pro375=) |
single nucleotide variant |
Cystinuria [RCV001140891]|not provided [RCV000909411] |
Chr2:44301116 [GRCh38] Chr2:44528255 [GRCh37] Chr2:2p21 |
likely benign|uncertain significance |
NM_000341.4(SLC3A1):c.1389C>T (p.Asn463=) |
single nucleotide variant |
not provided [RCV000924415] |
Chr2:44312642 [GRCh38] Chr2:44539781 [GRCh37] Chr2:2p21 |
likely benign |
NM_000341.4(SLC3A1):c.1136+7C>G |
single nucleotide variant |
not provided [RCV000909629] |
Chr2:44301134 [GRCh38] Chr2:44528273 [GRCh37] Chr2:2p21 |
likely benign |
NM_001171613.2(PREPL):c.1854C>T (p.Tyr618=) |
single nucleotide variant |
not provided [RCV000921491] |
Chr2:44321419 [GRCh38] Chr2:44548558 [GRCh37] Chr2:2p21 |
benign |
NM_000341.4(SLC3A1):c.566C>A (p.Thr189Lys) |
single nucleotide variant |
Cystinuria [RCV001236121] |
Chr2:44280851 [GRCh38] Chr2:44507990 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.241C>T (p.Arg81Cys) |
single nucleotide variant |
Cystinuria [RCV001140779] |
Chr2:44275776 [GRCh38] Chr2:44502915 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1613T>C (p.Val538Ala) |
single nucleotide variant |
Cystinuria [RCV001138418] |
Chr2:44313947 [GRCh38] Chr2:44541086 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1227C>T (p.Phe409=) |
single nucleotide variant |
Cystinuria [RCV001142748] |
Chr2:44304233 [GRCh38] Chr2:44531372 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1254T>C (p.Thr418=) |
single nucleotide variant |
Cystinuria [RCV001142750] |
Chr2:44304260 [GRCh38] Chr2:44531399 [GRCh37] Chr2:2p21 |
uncertain significance |
NC_000002.12:g.(?_44320179)_(44346410_?)del |
deletion |
Myasthenic syndrome, congenital, 22 [RCV001033051] |
Chr2:44547318..44573549 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.*156T>C |
single nucleotide variant |
Cystinuria [RCV001142840] |
Chr2:44320795 [GRCh38] Chr2:44547934 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1749_1750del (p.Glu585fs) |
deletion |
Cystinuria [RCV001225547] |
Chr2:44320330..44320331 [GRCh38] Chr2:44547469..44547470 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.1084C>T (p.Arg362Cys) |
single nucleotide variant |
Cystine urolithiasis [RCV000991104]|Cystinuria [RCV001140890] |
Chr2:44301075 [GRCh38] Chr2:44528214 [GRCh37] Chr2:2p21 |
pathogenic|uncertain significance |
NM_000341.4(SLC3A1):c.1304T>G (p.Met435Arg) |
single nucleotide variant |
Cystine urolithiasis [RCV000991108] |
Chr2:44304310 [GRCh38] Chr2:44531449 [GRCh37] Chr2:2p21 |
likely pathogenic |
NM_000341.4(SLC3A1):c.1365del (p.Arg456fs) |
deletion |
Cystine urolithiasis [RCV000991111] |
Chr2:44312618 [GRCh38] Chr2:44539757 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.1084C>G (p.Arg362Gly) |
single nucleotide variant |
Cystine urolithiasis [RCV000991112] |
Chr2:44301075 [GRCh38] Chr2:44528214 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.1097A>G (p.Gln366Arg) |
single nucleotide variant |
Cystine urolithiasis [RCV000991117] |
Chr2:44301088 [GRCh38] Chr2:44528227 [GRCh37] Chr2:2p21 |
likely pathogenic |
NM_001171613.2(PREPL):c.1851G>C (p.Leu617=) |
single nucleotide variant |
not provided [RCV000935069] |
Chr2:44321422 [GRCh38] Chr2:44548561 [GRCh37] Chr2:2p21 |
likely benign |
NM_000341.4(SLC3A1):c.1136+10G>A |
single nucleotide variant |
Cystinuria [RCV001142746] |
Chr2:44301137 [GRCh38] Chr2:44528276 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1250A>T (p.Asp417Val) |
single nucleotide variant |
Cystinuria [RCV001142749] |
Chr2:44304256 [GRCh38] Chr2:44531395 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1826A>G (p.Asn609Ser) |
single nucleotide variant |
Cystinuria [RCV001140991] |
Chr2:44320407 [GRCh38] Chr2:44547546 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1840C>A (p.Leu614Ile) |
single nucleotide variant |
Cystinuria [RCV001140992] |
Chr2:44320421 [GRCh38] Chr2:44547560 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1367G>A (p.Arg456His) |
single nucleotide variant |
Cystinuria [RCV001137998] |
Chr2:44312620 [GRCh38] Chr2:44539759 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001171613.2(PREPL):c.1888G>A (p.Glu630Lys) |
single nucleotide variant |
Myasthenic syndrome, congenital, 22 [RCV001045584] |
Chr2:44321385 [GRCh38] Chr2:44548524 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.935G>C (p.Ser312Thr) |
single nucleotide variant |
Cystinuria [RCV001140139] |
Chr2:44300014 [GRCh38] Chr2:44527153 [GRCh37] Chr2:2p21 |
uncertain significance |
NC_000002.12:g.(?_44280696)_(44286177_?)del |
deletion |
Cystinuria [RCV001033049] |
Chr2:44507835..44513316 [GRCh37] Chr2:2p21 |
pathogenic |
NC_000002.12:g.44275454T>G |
single nucleotide variant |
Cystinuria [RCV001140021] |
Chr2:44275454 [GRCh38] Chr2:44502593 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.769A>G (p.Ser257Gly) |
single nucleotide variant |
Cystinuria [RCV001140137] |
Chr2:44286035 [GRCh38] Chr2:44513174 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.124G>C (p.Asp42His) |
single nucleotide variant |
Cystinuria [RCV001140777] |
Chr2:44275659 [GRCh38] Chr2:44502798 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1136+9C>T |
single nucleotide variant |
Cystinuria [RCV001140893] |
Chr2:44301136 [GRCh38] Chr2:44528275 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1179C>T (p.Thr393=) |
single nucleotide variant |
Cystinuria [RCV001142747] |
Chr2:44304185 [GRCh38] Chr2:44531324 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001171613.2(PREPL):c.1905C>A (p.Tyr635Ter) |
single nucleotide variant |
Myasthenic syndrome, congenital, 22 [RCV001050076] |
Chr2:44321368 [GRCh38] Chr2:44548507 [GRCh37] Chr2:2p21 |
uncertain significance |
GRCh37/hg19 2p21(chr2:44494834-44571747) |
copy number loss |
Cystinuria [RCV001195112] |
Chr2:44494834..44571747 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.597C>A (p.Ala199=) |
single nucleotide variant |
Cystinuria [RCV001137889] |
Chr2:44280882 [GRCh38] Chr2:44508021 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001171613.2(PREPL):c.1839A>C (p.Gln613His) |
single nucleotide variant |
Myasthenic syndrome, congenital, 22 [RCV001219008] |
Chr2:44321434 [GRCh38] Chr2:44548573 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.*109A>G |
single nucleotide variant |
Cystinuria [RCV001142839] |
Chr2:44320748 [GRCh38] Chr2:44547887 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.782_804del (p.Asn261fs) |
deletion |
Cystinuria [RCV001216584] |
Chr2:44286045..44286067 [GRCh38] Chr2:44513184..44513206 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.1063G>A (p.Val355Met) |
single nucleotide variant |
Cystinuria [RCV001140889] |
Chr2:44301054 [GRCh38] Chr2:44528193 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1601_1602AC[1] (p.Thr535fs) |
microsatellite |
Cystinuria [RCV001064226] |
Chr2:44313934..44313935 [GRCh38] Chr2:44541073..44541074 [GRCh37] Chr2:2p21 |
pathogenic |
NM_000341.4(SLC3A1):c.313A>G (p.Ile105Val) |
single nucleotide variant |
Cystinuria [RCV001142634] |
Chr2:44275848 [GRCh38] Chr2:44502987 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1136+5A>G |
single nucleotide variant |
Cystinuria [RCV001140892] |
Chr2:44301132 [GRCh38] Chr2:44528271 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1934G>C (p.Gly645Ala) |
single nucleotide variant |
Cystinuria [RCV001140995] |
Chr2:44320515 [GRCh38] Chr2:44547654 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1230C>A (p.Asn410Lys) |
single nucleotide variant |
Cystinuria [RCV001257094] |
Chr2:44304236 [GRCh38] Chr2:44531375 [GRCh37] Chr2:2p21 |
likely pathogenic |
NM_001171613.2(PREPL):c.1906C>T (p.Leu636=) |
single nucleotide variant |
not provided [RCV001253873] |
Chr2:44321367 [GRCh38] Chr2:44548506 [GRCh37] Chr2:2p21 |
likely benign |
NM_000341.4(SLC3A1):c.1617+1097T>A |
single nucleotide variant |
Cystinuria [RCV001257093] |
Chr2:44315048 [GRCh38] Chr2:44542187 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.292C>A (p.Leu98Met) |
single nucleotide variant |
Cystinuria [RCV001262587] |
Chr2:44275827 [GRCh38] Chr2:44502966 [GRCh37] Chr2:2p21 |
uncertain significance |
GRCh37/hg19 2p21(chr2:44506991-44644257)x1 |
copy number loss |
not provided [RCV001258533] |
Chr2:44506991..44644257 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1823ATA[1] (p.Asn609del) |
microsatellite |
Cystinuria [RCV001326831] |
Chr2:44320404..44320406 [GRCh38] Chr2:44547543..44547545 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_001171613.2(PREPL):c.1849C>G (p.Leu617Val) |
single nucleotide variant |
Myasthenic syndrome, congenital, 22 [RCV001307585] |
Chr2:44321424 [GRCh38] Chr2:44548563 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1796T>C (p.Phe599Ser) |
single nucleotide variant |
Cystinuria [RCV001298344] |
Chr2:44320377 [GRCh38] Chr2:44547516 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1768G>A (p.Asp590Asn) |
single nucleotide variant |
Cystinuria [RCV001345836] |
Chr2:44320349 [GRCh38] Chr2:44547488 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1157A>G (p.Tyr386Cys) |
single nucleotide variant |
Cystinuria [RCV001344329] |
Chr2:44304163 [GRCh38] Chr2:44531302 [GRCh37] Chr2:2p21 |
uncertain significance |
NM_000341.4(SLC3A1):c.1011+1G>A |
single nucleotide variant |
Cystinuria [RCV001336806] |
Chr2:44300091 [GRCh38] Chr2:44527230 [GRCh37] Chr2:2p21 |
pathogenic |