GRCh38/hg38 10p12.2-12.1(chr10:24111341-25350640)x1 |
copy number loss |
See cases [RCV000133897] |
Chr10:24111341..25350640 [GRCh38] Chr10:24400270..25639569 [GRCh37] Chr10:24440276..25679575 [NCBI36] Chr10:10p12.2-12.1 |
pathogenic |
GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|See cases [RCV000053512] |
Chr10:90421..29058318 [GRCh38] Chr10:224406..29347247 [GRCh37] Chr10:126361..29387253 [NCBI36] Chr10:10p15.3-12.1 |
pathogenic |
NM_024838.5(THNSL1):c.1465G>C (p.Asp489His) |
single nucleotide variant |
not specified [RCV004256200] |
Chr10:25024688 [GRCh38] Chr10:25313617 [GRCh37] Chr10:10p12.1 |
uncertain significance |
GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3 |
copy number gain |
See cases [RCV000138428] |
Chr10:90205..26339978 [GRCh38] Chr10:224406..26628907 [GRCh37] Chr10:126145..26668913 [NCBI36] Chr10:10p15.3-12.1 |
pathogenic |
GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3 |
copy number gain |
See cases [RCV000139427] |
Chr10:19088161..32732293 [GRCh38] Chr10:19377090..33021221 [GRCh37] Chr10:19417096..33061227 [NCBI36] Chr10:10p12.31-11.22 |
likely pathogenic |
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 |
copy number gain |
See cases [RCV000141497] |
Chr10:4604734..48074662 [GRCh38] Chr10:4646926..47531169 [GRCh37] Chr10:4636926..47125152 [NCBI36] Chr10:10p15.1-q11.22 |
benign |
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) |
copy number loss |
Distal 10q deletion syndrome [RCV003319583] |
Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-11.23(chr10:100026-30278548)x3 |
copy number gain |
See cases [RCV000447131] |
Chr10:100026..30278548 [GRCh37] Chr10:10p15.3-11.23 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 |
copy number gain |
See cases [RCV000448750] |
Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p12.1(chr10:24628319-26747630)x1 |
copy number loss |
See cases [RCV000511762] |
Chr10:24628319..26747630 [GRCh37] Chr10:10p12.1 |
uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) |
copy number gain |
See cases [RCV000511389] |
Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 |
copy number gain |
See cases [RCV000510893] |
Chr10:100026..50961640 [GRCh37] Chr10:10p15.3-q11.23 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 |
copy number gain |
See cases [RCV000510861] |
Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 |
copy number gain |
not provided [RCV000749465] |
Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 |
copy number gain |
not provided [RCV000749464] |
Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_145010.4(ENKUR):c.224-1del |
deletion |
not provided [RCV000984539] |
Chr10:24995870 [GRCh38] Chr10:25284799 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.683C>T (p.Ser228Leu) |
single nucleotide variant |
not specified [RCV004288851] |
Chr10:25023906 [GRCh38] Chr10:25312835 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.810G>C (p.Lys270Asn) |
single nucleotide variant |
not specified [RCV004303595] |
Chr10:25024033 [GRCh38] Chr10:25312962 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_145010.4(ENKUR):c.520C>G (p.Arg174Gly) |
single nucleotide variant |
not specified [RCV004300173] |
Chr10:24990537 [GRCh38] Chr10:25279466 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_145010.4(ENKUR):c.448-8C>A |
single nucleotide variant |
not provided [RCV000935902] |
Chr10:24990617 [GRCh38] Chr10:25279546 [GRCh37] Chr10:10p12.1 |
benign |
NM_024838.5(THNSL1):c.1598C>G (p.Ala533Gly) |
single nucleotide variant |
not specified [RCV004668563] |
Chr10:25024821 [GRCh38] Chr10:25313750 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1184A>G (p.Lys395Arg) |
single nucleotide variant |
not specified [RCV004668564] |
Chr10:25024407 [GRCh38] Chr10:25313336 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.2023A>G (p.Ile675Val) |
single nucleotide variant |
not specified [RCV004668565] |
Chr10:25025246 [GRCh38] Chr10:25314175 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.997C>T (p.Leu333Phe) |
single nucleotide variant |
not specified [RCV004676845] |
Chr10:25024220 [GRCh38] Chr10:25313149 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.766A>G (p.Ile256Val) |
single nucleotide variant |
not specified [RCV004305087] |
Chr10:25023989 [GRCh38] Chr10:25312918 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.385A>C (p.Ile129Leu) |
single nucleotide variant |
not specified [RCV004316859] |
Chr10:25023608 [GRCh38] Chr10:25312537 [GRCh37] Chr10:10p12.1 |
uncertain significance |
GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521) |
copy number gain |
not specified [RCV002052863] |
Chr10:6273934..34732521 [GRCh37] Chr10:10p15.1-11.21 |
pathogenic |
GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4 |
copy number gain |
Mosaic supernumerary isodicentric chromosome 10 [RCV001825164] |
Chr10:135655..47688677 [GRCh37] Chr10:10p15.3-q11.22 |
not provided |
NM_145010.4(ENKUR):c.110A>G (p.Asp37Gly) |
single nucleotide variant |
not specified [RCV004143353] |
Chr10:24999514 [GRCh38] Chr10:25288443 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.544A>G (p.Met182Val) |
single nucleotide variant |
not specified [RCV004137178] |
Chr10:25023767 [GRCh38] Chr10:25312696 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.527A>G (p.Gln176Arg) |
single nucleotide variant |
not specified [RCV004132749] |
Chr10:25023750 [GRCh38] Chr10:25312679 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.491G>A (p.Arg164His) |
single nucleotide variant |
not specified [RCV004101098] |
Chr10:25023714 [GRCh38] Chr10:25312643 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1135T>G (p.Ser379Ala) |
single nucleotide variant |
not specified [RCV004104175] |
Chr10:25024358 [GRCh38] Chr10:25313287 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_145010.4(ENKUR):c.568G>A (p.Asp190Asn) |
single nucleotide variant |
not specified [RCV004217426] |
Chr10:24990489 [GRCh38] Chr10:25279418 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.2142G>T (p.Gln714His) |
single nucleotide variant |
not specified [RCV004205989] |
Chr10:25025365 [GRCh38] Chr10:25314294 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.871A>G (p.Arg291Gly) |
single nucleotide variant |
not specified [RCV004093148] |
Chr10:25024094 [GRCh38] Chr10:25313023 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_145010.4(ENKUR):c.391G>A (p.Gly131Arg) |
single nucleotide variant |
not specified [RCV004172216] |
Chr10:24995702 [GRCh38] Chr10:25284631 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1891A>G (p.Thr631Ala) |
single nucleotide variant |
not specified [RCV004220660] |
Chr10:25025114 [GRCh38] Chr10:25314043 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1738G>A (p.Ala580Thr) |
single nucleotide variant |
not specified [RCV004163248] |
Chr10:25024961 [GRCh38] Chr10:25313890 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1012T>C (p.Phe338Leu) |
single nucleotide variant |
not specified [RCV004170243] |
Chr10:25024235 [GRCh38] Chr10:25313164 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.434T>C (p.Leu145Pro) |
single nucleotide variant |
not specified [RCV004243809] |
Chr10:25023657 [GRCh38] Chr10:25312586 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1731C>A (p.His577Gln) |
single nucleotide variant |
not specified [RCV004130209] |
Chr10:25024954 [GRCh38] Chr10:25313883 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1652T>C (p.Leu551Pro) |
single nucleotide variant |
not specified [RCV004239183] |
Chr10:25024875 [GRCh38] Chr10:25313804 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_145010.4(ENKUR):c.114C>G (p.Asp38Glu) |
single nucleotide variant |
not specified [RCV004110114] |
Chr10:24999510 [GRCh38] Chr10:25288439 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1188T>A (p.Asn396Lys) |
single nucleotide variant |
not specified [RCV004106911] |
Chr10:25024411 [GRCh38] Chr10:25313340 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_145010.4(ENKUR):c.263T>G (p.Val88Gly) |
single nucleotide variant |
not specified [RCV004075506] |
Chr10:24995830 [GRCh38] Chr10:25284759 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1448A>G (p.His483Arg) |
single nucleotide variant |
not specified [RCV004178013] |
Chr10:25024671 [GRCh38] Chr10:25313600 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1621A>T (p.Thr541Ser) |
single nucleotide variant |
not specified [RCV004179488] |
Chr10:25024844 [GRCh38] Chr10:25313773 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1174C>T (p.Arg392Cys) |
single nucleotide variant |
not specified [RCV004227252] |
Chr10:25024397 [GRCh38] Chr10:25313326 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.145A>G (p.Thr49Ala) |
single nucleotide variant |
not specified [RCV004116029] |
Chr10:25023368 [GRCh38] Chr10:25312297 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1593C>G (p.Ile531Met) |
single nucleotide variant |
not specified [RCV004086523] |
Chr10:25024816 [GRCh38] Chr10:25313745 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_145010.4(ENKUR):c.44C>G (p.Pro15Arg) |
single nucleotide variant |
not specified [RCV004223258] |
Chr10:25015893 [GRCh38] Chr10:25304822 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1724A>G (p.His575Arg) |
single nucleotide variant |
not specified [RCV004083720] |
Chr10:25024947 [GRCh38] Chr10:25313876 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_145010.4(ENKUR):c.489G>T (p.Glu163Asp) |
single nucleotide variant |
not specified [RCV004269126] |
Chr10:24990568 [GRCh38] Chr10:25279497 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1774A>G (p.Asn592Asp) |
single nucleotide variant |
not specified [RCV004269628] |
Chr10:25024997 [GRCh38] Chr10:25313926 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_145010.4(ENKUR):c.419G>A (p.Gly140Glu) |
single nucleotide variant |
not provided [RCV004696386]|not specified [RCV004272052] |
Chr10:24995674 [GRCh38] Chr10:25284603 [GRCh37] Chr10:10p12.1 |
uncertain significance |
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) |
copy number gain |
Distal trisomy 10q [RCV003319593] |
Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3 |
pathogenic |
NM_024838.5(THNSL1):c.107C>T (p.Thr36Ile) |
single nucleotide variant |
not specified [RCV004362311] |
Chr10:25023330 [GRCh38] Chr10:25312259 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1882A>G (p.Ile628Val) |
single nucleotide variant |
not specified [RCV004339466] |
Chr10:25025105 [GRCh38] Chr10:25314034 [GRCh37] Chr10:10p12.1 |
uncertain significance |
GRCh37/hg19 10p12.2-12.1(chr10:24560328-25536166)x3 |
copy number gain |
not provided [RCV003484796] |
Chr10:24560328..25536166 [GRCh37] Chr10:10p12.2-12.1 |
uncertain significance |
NM_145010.4(ENKUR):c.685A>G (p.Arg229Gly) |
single nucleotide variant |
not provided [RCV003417271] |
Chr10:24984815 [GRCh38] Chr10:25273744 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_145010.4(ENKUR):c.83T>A (p.Ile28Lys) |
single nucleotide variant |
not provided [RCV003417272] |
Chr10:24999541 [GRCh38] Chr10:25288470 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_024838.5(THNSL1):c.201G>A (p.Gly67=) |
single nucleotide variant |
not provided [RCV003417273] |
Chr10:25023424 [GRCh38] Chr10:25312353 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_145010.4(ENKUR):c.482G>A (p.Arg161Gln) |
single nucleotide variant |
not specified [RCV004382784] |
Chr10:24990575 [GRCh38] Chr10:25279504 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_145010.4(ENKUR):c.178A>G (p.Lys60Glu) |
single nucleotide variant |
not specified [RCV004382781] |
Chr10:24999446 [GRCh38] Chr10:25288375 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1400C>T (p.Ser467Leu) |
single nucleotide variant |
not specified [RCV004466904] |
Chr10:25024623 [GRCh38] Chr10:25313552 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.74C>T (p.Thr25Met) |
single nucleotide variant |
not specified [RCV004466912] |
Chr10:25023297 [GRCh38] Chr10:25312226 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1190A>G (p.Asp397Gly) |
single nucleotide variant |
not specified [RCV004466902] |
Chr10:25024413 [GRCh38] Chr10:25313342 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.2185G>A (p.Val729Ile) |
single nucleotide variant |
not specified [RCV004466910] |
Chr10:25025408 [GRCh38] Chr10:25314337 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1052A>C (p.Lys351Thr) |
single nucleotide variant |
not specified [RCV004466900] |
Chr10:25024275 [GRCh38] Chr10:25313204 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1205C>T (p.Ala402Val) |
single nucleotide variant |
not specified [RCV004466903] |
Chr10:25024428 [GRCh38] Chr10:25313357 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1814C>G (p.Ala605Gly) |
single nucleotide variant |
not specified [RCV004466907] |
Chr10:25025037 [GRCh38] Chr10:25313966 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_145010.4(ENKUR):c.676C>T (p.Arg226Cys) |
single nucleotide variant |
not specified [RCV004625035] |
Chr10:24984824 [GRCh38] Chr10:25273753 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_145010.4(ENKUR):c.718G>A (p.Asp240Asn) |
single nucleotide variant |
not specified [RCV004625036] |
Chr10:24984782 [GRCh38] Chr10:25273711 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_145010.4(ENKUR):c.230A>G (p.Asn77Ser) |
single nucleotide variant |
not specified [RCV004625037] |
Chr10:24995863 [GRCh38] Chr10:25284792 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.660T>G (p.Ile220Met) |
single nucleotide variant |
not specified [RCV004869772] |
Chr10:25023883 [GRCh38] Chr10:25312812 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.2095A>G (p.Asn699Asp) |
single nucleotide variant |
not specified [RCV004869774] |
Chr10:25025318 [GRCh38] Chr10:25314247 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1658A>C (p.Glu553Ala) |
single nucleotide variant |
not specified [RCV004869780] |
Chr10:25024881 [GRCh38] Chr10:25313810 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.106A>G (p.Thr36Ala) |
single nucleotide variant |
not specified [RCV004869784] |
Chr10:25023329 [GRCh38] Chr10:25312258 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1117A>G (p.Met373Val) |
single nucleotide variant |
not specified [RCV004869788] |
Chr10:25024340 [GRCh38] Chr10:25313269 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1813G>T (p.Ala605Ser) |
single nucleotide variant |
not specified [RCV004869773] |
Chr10:25025036 [GRCh38] Chr10:25313965 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1608G>C (p.Gln536His) |
single nucleotide variant |
not specified [RCV004869775] |
Chr10:25024831 [GRCh38] Chr10:25313760 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.2146G>C (p.Glu716Gln) |
single nucleotide variant |
not specified [RCV004869778] |
Chr10:25025369 [GRCh38] Chr10:25314298 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.263A>T (p.Asp88Val) |
single nucleotide variant |
not specified [RCV004869779] |
Chr10:25023486 [GRCh38] Chr10:25312415 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.211G>A (p.Val71Ile) |
single nucleotide variant |
not specified [RCV004869781] |
Chr10:25023434 [GRCh38] Chr10:25312363 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1640G>T (p.Gly547Val) |
single nucleotide variant |
not specified [RCV004869783] |
Chr10:25024863 [GRCh38] Chr10:25313792 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1847C>G (p.Ala616Gly) |
single nucleotide variant |
not specified [RCV004869785] |
Chr10:25025070 [GRCh38] Chr10:25313999 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.92G>A (p.Arg31Gln) |
single nucleotide variant |
not specified [RCV004869787] |
Chr10:25023315 [GRCh38] Chr10:25312244 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_024838.5(THNSL1):c.23A>G (p.His8Arg) |
single nucleotide variant |
not specified [RCV004878071] |
Chr10:25023246 [GRCh38] Chr10:25312175 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.481C>A (p.Leu161Ile) |
single nucleotide variant |
not specified [RCV004878072] |
Chr10:25023704 [GRCh38] Chr10:25312633 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_145010.4(ENKUR):c.36C>G (p.Asn12Lys) |
single nucleotide variant |
not specified [RCV004914880] |
Chr10:25015901 [GRCh38] Chr10:25304830 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.979A>G (p.Ile327Val) |
single nucleotide variant |
not specified [RCV004869771] |
Chr10:25024202 [GRCh38] Chr10:25313131 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.2087G>T (p.Gly696Val) |
single nucleotide variant |
not specified [RCV004869777] |
Chr10:25025310 [GRCh38] Chr10:25314239 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.271C>T (p.Leu91Phe) |
single nucleotide variant |
not specified [RCV004869782] |
Chr10:25023494 [GRCh38] Chr10:25312423 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_145010.4(ENKUR):c.20C>T (p.Ser7Phe) |
single nucleotide variant |
not specified [RCV004914879] |
Chr10:25015917 [GRCh38] Chr10:25304846 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_145010.4(ENKUR):c.244G>C (p.Val82Leu) |
single nucleotide variant |
not specified [RCV004922896] |
Chr10:24995849 [GRCh38] Chr10:25284778 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.556C>A (p.Leu186Ile) |
single nucleotide variant |
not specified [RCV004466911] |
Chr10:25023779 [GRCh38] Chr10:25312708 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.634G>A (p.Val212Ile) |
single nucleotide variant |
not specified [RCV004280490] |
Chr10:25023857 [GRCh38] Chr10:25312786 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.832G>A (p.Gly278Arg) |
single nucleotide variant |
not specified [RCV004339910] |
Chr10:25024055 [GRCh38] Chr10:25312984 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_145010.4(ENKUR):c.244G>A (p.Val82Met) |
single nucleotide variant |
not specified [RCV004382782] |
Chr10:24995849 [GRCh38] Chr10:25284778 [GRCh37] Chr10:10p12.1 |
likely benign |
NM_024838.5(THNSL1):c.1157T>C (p.Val386Ala) |
single nucleotide variant |
not specified [RCV004466901] |
Chr10:25024380 [GRCh38] Chr10:25313309 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_145010.4(ENKUR):c.368C>T (p.Pro123Leu) |
single nucleotide variant |
not specified [RCV004382783] |
Chr10:24995725 [GRCh38] Chr10:25284654 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_145010.4(ENKUR):c.622C>T (p.His208Tyr) |
single nucleotide variant |
not specified [RCV004382785] |
Chr10:24984878 [GRCh38] Chr10:25273807 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1456G>A (p.Ala486Thr) |
single nucleotide variant |
not specified [RCV004466905] |
Chr10:25024679 [GRCh38] Chr10:25313608 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1685C>T (p.Pro562Leu) |
single nucleotide variant |
not specified [RCV004466906] |
Chr10:25024908 [GRCh38] Chr10:25313837 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.1895A>G (p.Tyr632Cys) |
single nucleotide variant |
not specified [RCV004466908] |
Chr10:25025118 [GRCh38] Chr10:25314047 [GRCh37] Chr10:10p12.1 |
uncertain significance |
NM_024838.5(THNSL1):c.2054A>G (p.Asn685Ser) |
single nucleotide variant |
not specified [RCV004466909] |
Chr10:25025277 [GRCh38] Chr10:25314206 [GRCh37] Chr10:10p12.1 |
uncertain significance |