GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 |
copy number gain |
See cases [RCV000050747] |
Chr10:95112607..116776637 [GRCh38] Chr10:96872364..118383651 [GRCh37] Chr10:96862354..118526138 [NCBI36] Chr10:10q23.33-25.3 |
pathogenic |
GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1 |
copy number loss |
See cases [RCV000052568] |
Chr10:102243341..103929730 [GRCh38] Chr10:104003098..105689488 [GRCh37] Chr10:103993088..105679478 [NCBI36] Chr10:10q24.32-24.33 |
pathogenic |
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] |
Chr10:91048545..133620674 [GRCh38] Chr10:92808302..135434178 [GRCh37] Chr10:92798282..135284168 [NCBI36] Chr10:10q23.31-26.3 |
pathogenic |
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 |
copy number gain |
See cases [RCV000053564] |
Chr10:100194215..132432797 [GRCh38] Chr10:101953972..134246301 [GRCh37] Chr10:101943962..134096291 [NCBI36] Chr10:10q24.31-26.3 |
pathogenic |
NM_005029.4(PITX3):c.524A>C (p.Asn175Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003212089] |
Chr10:102230899 [GRCh38] Chr10:103990656 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.285C>T (p.Ile95=) |
single nucleotide variant |
Anterior segment dysgenesis 1 [RCV001788060]|Cataract 11 multiple types [RCV001788061]|not provided [RCV000828394]|not specified [RCV000177223] |
Chr10:102231624 [GRCh38] Chr10:103991381 [GRCh37] Chr10:10q24.32 |
benign |
NM_005029.4(PITX3):c.640_656del (p.Ala214fs) |
deletion |
Anterior segment dysgenesis 1 [RCV004787888]|Cataract 11 multiple types [RCV004559169]|not provided [RCV002526156] |
Chr10:102230767..102230783 [GRCh38] Chr10:103990524..103990540 [GRCh37] Chr10:10q24.32 |
pathogenic|likely pathogenic|uncertain significance |
NM_005029.4(PITX3):c.773A>G (p.Asp258Gly) |
single nucleotide variant |
not provided [RCV001310574] |
Chr10:102230650 [GRCh38] Chr10:103990407 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.646C>T (p.Gln216Ter) |
single nucleotide variant |
not provided [RCV000414049] |
Chr10:102230777 [GRCh38] Chr10:103990534 [GRCh37] Chr10:10q24.32 |
likely pathogenic |
NM_005029.4(PITX3):c.640_656dup (p.Gly220fs) |
duplication |
ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES [RCV002294347]|Cataract 11 multiple types [RCV003333078]|Cataract 11, posterior polar [RCV002294346]|PITX3-related disorder [RCV004755963]|not provided [RCV000627511] |
Chr10:102230766..102230767 [GRCh38] Chr10:103990523..103990524 [GRCh37] Chr10:10q24.32 |
pathogenic |
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 |
copy number gain |
See cases [RCV000137747] |
Chr10:100600492..133622588 [GRCh38] Chr10:102360249..135436092 [GRCh37] Chr10:102350239..135286082 [NCBI36] Chr10:10q24.31-26.3 |
pathogenic |
NM_001199378.1(GBF1):c.163+28403G>A |
single nucleotide variant |
Lung cancer [RCV000108530] |
Chr10:102288519 [GRCh38] Chr10:104048276 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001199378.1(GBF1):c.639+1827C>G |
single nucleotide variant |
Lung cancer [RCV000108531] |
Chr10:102355481 [GRCh38] Chr10:104115238 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.388A>T (p.Lys130Ter) |
single nucleotide variant |
not provided [RCV001343873] |
Chr10:102231035 [GRCh38] Chr10:103990792 [GRCh37] Chr10:10q24.32 |
uncertain significance |
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 |
copy number gain |
See cases [RCV000240457] |
Chr10:103288313..135512075 [GRCh37] Chr10:10q24.32-26.3 |
pathogenic |
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 10q24.2-26.3(chr10:100780957-135427143)x3 |
copy number gain |
See cases [RCV000446733] |
Chr10:100780957..135427143 [GRCh37] Chr10:10q24.2-26.3 |
pathogenic |
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] |
Chr10:85557432..105804295 [GRCh37] Chr10:10q23.1-25.1 |
pathogenic|drug response |
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 10q24.32-25.3(chr10:104030479-115410590)x1 |
copy number loss |
See cases [RCV000448581] |
Chr10:104030479..115410590 [GRCh37] Chr10:10q24.32-25.3 |
pathogenic |
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-q26.3(chr10:100027-135427143)x3 |
copy number gain |
See cases [RCV000510861] |
Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 |
copy number gain |
See cases [RCV000510972] |
Chr10:93283493..135427143 [GRCh37] Chr10:10q23.32-26.3 |
pathogenic |
NM_001377137.1(GBF1):c.5086T>G (p.Ser1696Ala) |
single nucleotide variant |
not specified [RCV004323591] |
Chr10:102380599 [GRCh38] Chr10:104140356 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.5093T>C (p.Leu1698Pro) |
single nucleotide variant |
not specified [RCV004324357] |
Chr10:102380606 [GRCh38] Chr10:104140363 [GRCh37] Chr10:10q24.32 |
uncertain significance |
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] |
Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3 |
drug response |
GRCh37/hg19 10q24.32-24.33(chr10:103891057-105339973)x1 |
copy number loss |
not provided [RCV000683260] |
Chr10:103891057..105339973 [GRCh37] Chr10:10q24.32-24.33 |
likely pathogenic |
GRCh37/hg19 10q24.32(chr10:104004798-104015279)x1 |
copy number loss |
not provided [RCV000737291] |
Chr10:104004798..104015279 [GRCh37] Chr10:10q24.32 |
benign |
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 |
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 |
NM_001377137.1(GBF1):c.524-7T>C |
single nucleotide variant |
not provided [RCV000954556] |
Chr10:102352451 [GRCh38] Chr10:104112208 [GRCh37] Chr10:10q24.32 |
benign |
NM_001377137.1(GBF1):c.4326A>G (p.Lys1442=) |
single nucleotide variant |
not provided [RCV000954557] |
Chr10:102376972 [GRCh38] Chr10:104136729 [GRCh37] Chr10:10q24.32 |
benign |
NM_001377137.1(GBF1):c.4470G>A (p.Thr1490=) |
single nucleotide variant |
not provided [RCV000954558] |
Chr10:102377116 [GRCh38] Chr10:104136873 [GRCh37] Chr10:10q24.32 |
benign |
NM_001377137.1(GBF1):c.5233G>A (p.Ala1745Thr) |
single nucleotide variant |
not specified [RCV004289371] |
Chr10:102381186 [GRCh38] Chr10:104140943 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.-12-273A>G |
single nucleotide variant |
not provided [RCV001710234] |
Chr10:102232365 [GRCh38] Chr10:103992122 [GRCh37] Chr10:10q24.32 |
benign |
NM_001377137.1(GBF1):c.2948G>A (p.Cys983Tyr) |
single nucleotide variant |
Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV001730753]|Motor axonal neuropathy [RCV001249193] |
Chr10:102368807 [GRCh38] Chr10:104128564 [GRCh37] Chr10:10q24.32 |
pathogenic|likely pathogenic |
NM_001377137.1(GBF1):c.4385G>A (p.Arg1462Gln) |
single nucleotide variant |
Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV001730752]|Motor axonal neuropathy [RCV001249190] |
Chr10:102377031 [GRCh38] Chr10:104136788 [GRCh37] Chr10:10q24.32 |
pathogenic|likely pathogenic |
NM_005029.4(PITX3):c.55T>A (p.Ser19Thr) |
single nucleotide variant |
not provided [RCV001325335] |
Chr10:102232026 [GRCh38] Chr10:103991783 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.42T>C (p.Pro14=) |
single nucleotide variant |
not provided [RCV000329890] |
Chr10:102232039 [GRCh38] Chr10:103991796 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.726CGC[6] (p.Ala250dup) |
microsatellite |
not provided [RCV001856259] |
Chr10:102230682..102230683 [GRCh38] Chr10:103990439..103990440 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.657_658insCCAGACCCTGCAGGGCC (p.Gly220fs) |
insertion |
not provided [RCV001380230] |
Chr10:102230765..102230766 [GRCh38] Chr10:103990522..103990523 [GRCh37] Chr10:10q24.32 |
pathogenic |
NC_000010.10:g.(?_99344461)_(105992004_?)dup |
duplication |
not provided [RCV003107322] |
Chr10:99344461..105992004 [GRCh37] Chr10:10q24.2-25.1 |
uncertain significance |
NM_005029.4(PITX3):c.88G>A (p.Glu30Lys) |
single nucleotide variant |
Anterior segment dysgenesis 1 [RCV001733623] |
Chr10:102231993 [GRCh38] Chr10:103991750 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.4278T>A (p.Ser1426Arg) |
single nucleotide variant |
Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV001837616] |
Chr10:102376790 [GRCh38] Chr10:104136547 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.617del (p.Pro206fs) |
deletion |
not provided [RCV002015949] |
Chr10:102230806 [GRCh38] Chr10:103990563 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.4384C>T (p.Arg1462Trp) |
single nucleotide variant |
not provided [RCV002211160] |
Chr10:102377030 [GRCh38] Chr10:104136787 [GRCh37] Chr10:10q24.32 |
likely pathogenic |
NM_005029.4(PITX3):c.682G>A (p.Ala228Thr) |
single nucleotide variant |
not provided [RCV003109887] |
Chr10:102230741 [GRCh38] Chr10:103990498 [GRCh37] Chr10:10q24.32 |
uncertain significance |
GRCh37/hg19 10q24.32(chr10:104031306-104366150)x3 |
copy number gain |
not provided [RCV002473842] |
Chr10:104031306..104366150 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.5509G>A (p.Glu1837Lys) |
single nucleotide variant |
not specified [RCV004222254] |
Chr10:102382262 [GRCh38] Chr10:104142019 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.445C>A (p.Pro149Thr) |
single nucleotide variant |
not provided [RCV002908100] |
Chr10:102230978 [GRCh38] Chr10:103990735 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.1409G>A (p.Arg470Gln) |
single nucleotide variant |
not specified [RCV004223701] |
Chr10:102361038 [GRCh38] Chr10:104120795 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.1867G>T (p.Ala623Ser) |
single nucleotide variant |
not specified [RCV004098925] |
Chr10:102362655 [GRCh38] Chr10:104122412 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.5384G>C (p.Ser1795Thr) |
single nucleotide variant |
not specified [RCV004603414] |
Chr10:102382137 [GRCh38] Chr10:104141894 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.34C>G (p.Arg12Gly) |
single nucleotide variant |
not provided [RCV003074459] |
Chr10:102232047 [GRCh38] Chr10:103991804 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.5255C>G (p.Pro1752Arg) |
single nucleotide variant |
not specified [RCV004132334] |
Chr10:102381208 [GRCh38] Chr10:104140965 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.4415G>A (p.Arg1472Gln) |
single nucleotide variant |
not specified [RCV004226732] |
Chr10:102377061 [GRCh38] Chr10:104136818 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.1914G>A (p.Met638Ile) |
single nucleotide variant |
not specified [RCV004183805] |
Chr10:102363293 [GRCh38] Chr10:104123050 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.2887G>A (p.Ala963Thr) |
single nucleotide variant |
not specified [RCV004226237] |
Chr10:102368746 [GRCh38] Chr10:104128503 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.4675C>T (p.Arg1559Cys) |
single nucleotide variant |
not specified [RCV004131894] |
Chr10:102379550 [GRCh38] Chr10:104139307 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.5392C>T (p.Pro1798Ser) |
single nucleotide variant |
not specified [RCV004163617] |
Chr10:102382145 [GRCh38] Chr10:104141902 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.314C>T (p.Thr105Ile) |
single nucleotide variant |
not specified [RCV004124182] |
Chr10:102351274 [GRCh38] Chr10:104111031 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.2173A>G (p.Lys725Glu) |
single nucleotide variant |
not specified [RCV004073600] |
Chr10:102365463 [GRCh38] Chr10:104125220 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.5056C>T (p.His1686Tyr) |
single nucleotide variant |
not specified [RCV004239344] |
Chr10:102380569 [GRCh38] Chr10:104140326 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.4332C>A (p.Asp1444Glu) |
single nucleotide variant |
not specified [RCV004176409] |
Chr10:102376978 [GRCh38] Chr10:104136735 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.562A>G (p.Met188Val) |
single nucleotide variant |
Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV004820938]|not specified [RCV004194037] |
Chr10:102352496 [GRCh38] Chr10:104112253 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.4187C>T (p.Ser1396Leu) |
single nucleotide variant |
not specified [RCV004155159] |
Chr10:102376699 [GRCh38] Chr10:104136456 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.3604G>T (p.Val1202Leu) |
single nucleotide variant |
not specified [RCV004187015] |
Chr10:102370804 [GRCh38] Chr10:104130561 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.959C>A (p.Ala320Asp) |
single nucleotide variant |
not specified [RCV004134568] |
Chr10:102358677 [GRCh38] Chr10:104118434 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.771G>A (p.Arg257=) |
single nucleotide variant |
not provided [RCV003091531] |
Chr10:102230652 [GRCh38] Chr10:103990409 [GRCh37] Chr10:10q24.32 |
likely benign |
NM_005029.4(PITX3):c.14T>C (p.Leu5Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002723285] |
Chr10:102232067 [GRCh38] Chr10:103991824 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.5455C>T (p.Gln1819Ter) |
single nucleotide variant |
not provided [RCV002607572] |
Chr10:102382208 [GRCh38] Chr10:104141965 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.1847T>C (p.Ile616Thr) |
single nucleotide variant |
not specified [RCV004273713] |
Chr10:102362635 [GRCh38] Chr10:104122392 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.3560G>A (p.Cys1187Tyr) |
single nucleotide variant |
not specified [RCV004276814] |
Chr10:102370760 [GRCh38] Chr10:104130517 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.3500A>C (p.Glu1167Ala) |
single nucleotide variant |
not specified [RCV004248850] |
Chr10:102370472 [GRCh38] Chr10:104130229 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.1558G>C (p.Glu520Gln) |
single nucleotide variant |
not specified [RCV004268905] |
Chr10:102361784 [GRCh38] Chr10:104121541 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.5393C>T (p.Pro1798Leu) |
single nucleotide variant |
not specified [RCV004257958] |
Chr10:102382146 [GRCh38] Chr10:104141903 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.73C>T (p.Arg25Ter) |
single nucleotide variant |
not provided [RCV003322244] |
Chr10:102259011 [GRCh38] Chr10:104018768 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.740C>T (p.Ala247Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003345860] |
Chr10:102230683 [GRCh38] Chr10:103990440 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.234G>A (p.Glu78=) |
single nucleotide variant |
not provided [RCV003422834] |
Chr10:102231675 [GRCh38] Chr10:103991432 [GRCh37] Chr10:10q24.32 |
likely benign |
NM_005029.4(PITX3):c.185A>G (p.Gln62Arg) |
single nucleotide variant |
not provided [RCV003874069] |
Chr10:102231724 [GRCh38] Chr10:103991481 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.32C>T (p.Ala11Val) |
single nucleotide variant |
not provided [RCV003873951] |
Chr10:102232049 [GRCh38] Chr10:103991806 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.3677G>A (p.Arg1226His) |
single nucleotide variant |
not provided [RCV003481991] |
Chr10:102375375 [GRCh38] Chr10:104135132 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.684G>T (p.Lys228Asn) |
single nucleotide variant |
not provided [RCV003481990]|not specified [RCV004364843] |
Chr10:102358083 [GRCh38] Chr10:104117840 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.991C>T (p.Pro331Ser) |
single nucleotide variant |
GBF1-related disorder [RCV003404227]|not provided [RCV004790555] |
Chr10:102358709 [GRCh38] Chr10:104118466 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.2358C>T (p.Tyr786=) |
single nucleotide variant |
not provided [RCV003422835] |
Chr10:102366431 [GRCh38] Chr10:104126188 [GRCh37] Chr10:10q24.32 |
benign |
NM_001377137.1(GBF1):c.3461C>T (p.Ala1154Val) |
single nucleotide variant |
GBF1-related disorder [RCV003405947] |
Chr10:102370433 [GRCh38] Chr10:104130190 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.1621A>C (p.Ile541Leu) |
single nucleotide variant |
not provided [RCV003692196] |
Chr10:102361847 [GRCh38] Chr10:104121604 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.669C>T (p.Pro223=) |
single nucleotide variant |
not provided [RCV003821417] |
Chr10:102230754 [GRCh38] Chr10:103990511 [GRCh37] Chr10:10q24.32 |
likely benign |
NM_005029.4(PITX3):c.759C>T (p.Pro253=) |
single nucleotide variant |
PITX3-related disorder [RCV003949803] |
Chr10:102230664 [GRCh38] Chr10:103990421 [GRCh37] Chr10:10q24.32 |
likely benign |
NM_005029.4(PITX3):c.483T>G (p.Leu161=) |
single nucleotide variant |
PITX3-related disorder [RCV003901416] |
Chr10:102230940 [GRCh38] Chr10:103990697 [GRCh37] Chr10:10q24.32 |
likely benign |
NM_001377137.1(GBF1):c.713G>A (p.Arg238His) |
single nucleotide variant |
not specified [RCV004395228] |
Chr10:102358112 [GRCh38] Chr10:104117869 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.2426G>A (p.Arg809His) |
single nucleotide variant |
not provided [RCV004810671]|not specified [RCV004395218] |
Chr10:102366499 [GRCh38] Chr10:104126256 [GRCh37] Chr10:10q24.32 |
likely benign |
NM_001377137.1(GBF1):c.1331T>G (p.Val444Gly) |
single nucleotide variant |
not specified [RCV004395211] |
Chr10:102360334 [GRCh38] Chr10:104120091 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.4309C>T (p.Arg1437Cys) |
single nucleotide variant |
not specified [RCV004395225] |
Chr10:102376955 [GRCh38] Chr10:104136712 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.2204C>T (p.Thr735Ile) |
single nucleotide variant |
not specified [RCV004395215] |
Chr10:102365494 [GRCh38] Chr10:104125251 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.2276G>A (p.Arg759His) |
single nucleotide variant |
not specified [RCV004395216] |
Chr10:102365566 [GRCh38] Chr10:104125323 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.3283C>T (p.Arg1095Trp) |
single nucleotide variant |
not specified [RCV004395221] |
Chr10:102369928 [GRCh38] Chr10:104129685 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.3628C>T (p.Arg1210Trp) |
single nucleotide variant |
not specified [RCV004395223] |
Chr10:102370828 [GRCh38] Chr10:104130585 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.1759G>C (p.Asp587His) |
single nucleotide variant |
not specified [RCV004395212] |
Chr10:102362547 [GRCh38] Chr10:104122304 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.2819C>T (p.Ser940Phe) |
single nucleotide variant |
not specified [RCV004395220] |
Chr10:102368394 [GRCh38] Chr10:104128151 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.5350G>A (p.Gly1784Arg) |
single nucleotide variant |
not provided [RCV004555069] |
Chr10:102382103 [GRCh38] Chr10:104141860 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.4494C>T (p.Asp1498=) |
single nucleotide variant |
Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV004586385] |
Chr10:102377140 [GRCh38] Chr10:104136897 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.1924A>G (p.Ile642Val) |
single nucleotide variant |
not specified [RCV004395214] |
Chr10:102363303 [GRCh38] Chr10:104123060 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.2420C>A (p.Thr807Lys) |
single nucleotide variant |
not specified [RCV004395217] |
Chr10:102366493 [GRCh38] Chr10:104126250 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.3998T>C (p.Ile1333Thr) |
single nucleotide variant |
not specified [RCV004395224] |
Chr10:102376383 [GRCh38] Chr10:104136140 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.3596G>A (p.Arg1199Gln) |
single nucleotide variant |
not specified [RCV004634628] |
Chr10:102370796 [GRCh38] Chr10:104130553 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.4684C>T (p.Arg1562Trp) |
single nucleotide variant |
not specified [RCV004634635] |
Chr10:102379559 [GRCh38] Chr10:104139316 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.3966G>T (p.Glu1322Asp) |
single nucleotide variant |
not specified [RCV004634636] |
Chr10:102376351 [GRCh38] Chr10:104136108 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.1964C>T (p.Pro655Leu) |
single nucleotide variant |
not specified [RCV004634639] |
Chr10:102363343 [GRCh38] Chr10:104123100 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.68A>G (p.Asn23Ser) |
single nucleotide variant |
not specified [RCV004634646] |
Chr10:102259006 [GRCh38] Chr10:104018763 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.1079A>T (p.Glu360Val) |
single nucleotide variant |
not specified [RCV004395210] |
Chr10:102359334 [GRCh38] Chr10:104119091 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.2723G>A (p.Gly908Asp) |
single nucleotide variant |
not specified [RCV004395219] |
Chr10:102368298 [GRCh38] Chr10:104128055 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.3314A>G (p.Lys1105Arg) |
single nucleotide variant |
not specified [RCV004395222] |
Chr10:102369959 [GRCh38] Chr10:104129716 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.4450G>A (p.Val1484Met) |
single nucleotide variant |
not specified [RCV004395226] |
Chr10:102377096 [GRCh38] Chr10:104136853 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.4979C>T (p.Ser1660Phe) |
single nucleotide variant |
not specified [RCV004395227] |
Chr10:102380349 [GRCh38] Chr10:104140106 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.890C>T (p.Ser297Phe) |
single nucleotide variant |
not specified [RCV004395229] |
Chr10:102358608 [GRCh38] Chr10:104118365 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.5437C>T (p.Pro1813Ser) |
single nucleotide variant |
not specified [RCV004634623] |
Chr10:102382190 [GRCh38] Chr10:104141947 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.5176C>G (p.Pro1726Ala) |
single nucleotide variant |
not specified [RCV004634624] |
Chr10:102381129 [GRCh38] Chr10:104140886 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.4966A>G (p.Met1656Val) |
single nucleotide variant |
not specified [RCV004634632] |
Chr10:102380336 [GRCh38] Chr10:104140093 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.3989C>T (p.Pro1330Leu) |
single nucleotide variant |
not specified [RCV004634637] |
Chr10:102376374 [GRCh38] Chr10:104136131 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.4709A>C (p.Gln1570Pro) |
single nucleotide variant |
not specified [RCV004634630] |
Chr10:102379584 [GRCh38] Chr10:104139341 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.5216C>T (p.Ser1739Leu) |
single nucleotide variant |
not specified [RCV004634633] |
Chr10:102381169 [GRCh38] Chr10:104140926 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.3014A>G (p.Lys1005Arg) |
single nucleotide variant |
not provided [RCV004697641] |
Chr10:102369251 [GRCh38] Chr10:104129008 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.2527G>C (p.Val843Leu) |
single nucleotide variant |
not specified [RCV004634641] |
Chr10:102367178 [GRCh38] Chr10:104126935 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.923A>G (p.Asp308Gly) |
single nucleotide variant |
not specified [RCV004634642] |
Chr10:102358641 [GRCh38] Chr10:104118398 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.3761A>G (p.Asn1254Ser) |
single nucleotide variant |
not specified [RCV004634625] |
Chr10:102375459 [GRCh38] Chr10:104135216 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.1936C>T (p.His646Tyr) |
single nucleotide variant |
not specified [RCV004634631] |
Chr10:102363315 [GRCh38] Chr10:104123072 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.1213A>C (p.Ile405Leu) |
single nucleotide variant |
not specified [RCV004634638] |
Chr10:102360216 [GRCh38] Chr10:104119973 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.469C>T (p.Pro157Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004648331] |
Chr10:102230954 [GRCh38] Chr10:103990711 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.5353T>C (p.Ser1785Pro) |
single nucleotide variant |
not specified [RCV004634629] |
Chr10:102382106 [GRCh38] Chr10:104141863 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.719T>C (p.Met240Thr) |
single nucleotide variant |
not provided [RCV004810813] |
Chr10:102358118 [GRCh38] Chr10:104117875 [GRCh37] Chr10:10q24.32 |
benign |
NM_001377137.1(GBF1):c.1421A>G (p.Tyr474Cys) |
single nucleotide variant |
Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV004701246] |
Chr10:102361050 [GRCh38] Chr10:104120807 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.3886G>A (p.Gly1296Arg) |
single nucleotide variant |
not provided [RCV004722652] |
Chr10:102375584 [GRCh38] Chr10:104135341 [GRCh37] Chr10:10q24.32 |
uncertain significance |
Single allele |
deletion |
See cases [RCV004727573] |
Chr10:102837530..105033440 [GRCh37] Chr10:10q24.31-24.33 |
pathogenic |
NM_005029.4(PITX3):c.697G>A (p.Gly233Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004961880] |
Chr10:102230726 [GRCh38] Chr10:103990483 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.367A>T (p.Ser123Cys) |
single nucleotide variant |
not provided [RCV005154478] |
Chr10:102231056 [GRCh38] Chr10:103990813 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.321+14A>C |
single nucleotide variant |
not provided [RCV005182858] |
Chr10:102231574 [GRCh38] Chr10:103991331 [GRCh37] Chr10:10q24.32 |
benign |
NM_001377137.1(GBF1):c.1186G>C (p.Ala396Pro) |
single nucleotide variant |
not specified [RCV004925144] |
Chr10:102360189 [GRCh38] Chr10:104119946 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.2530C>T (p.Arg844Cys) |
single nucleotide variant |
not specified [RCV004924511] |
Chr10:102367181 [GRCh38] Chr10:104126938 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.5304C>G (p.Asp1768Glu) |
single nucleotide variant |
not specified [RCV004924512] |
Chr10:102382057 [GRCh38] Chr10:104141814 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.5068G>C (p.Ala1690Pro) |
single nucleotide variant |
not specified [RCV004924513] |
Chr10:102380581 [GRCh38] Chr10:104140338 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.4564C>G (p.Arg1522Gly) |
single nucleotide variant |
not specified [RCV004924514] |
Chr10:102379353 [GRCh38] Chr10:104139110 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.3700A>G (p.Ser1234Gly) |
single nucleotide variant |
not specified [RCV004924515] |
Chr10:102375398 [GRCh38] Chr10:104135155 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.3889G>T (p.Ala1297Ser) |
single nucleotide variant |
not specified [RCV004924516] |
Chr10:102376274 [GRCh38] Chr10:104136031 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.725A>G (p.Lys242Arg) |
single nucleotide variant |
not specified [RCV004925145] |
Chr10:102358124 [GRCh38] Chr10:104117881 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.106C>T (p.Arg36Trp) |
single nucleotide variant |
not specified [RCV004925146] |
Chr10:102260059 [GRCh38] Chr10:104019816 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.2827T>A (p.Phe943Ile) |
single nucleotide variant |
not specified [RCV004924509] |
Chr10:102368402 [GRCh38] Chr10:104128159 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.74G>A (p.Arg25Gln) |
single nucleotide variant |
not specified [RCV004925148] |
Chr10:102259012 [GRCh38] Chr10:104018769 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.1543C>G (p.Pro515Ala) |
single nucleotide variant |
not specified [RCV004925149] |
Chr10:102361769 [GRCh38] Chr10:104121526 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.472T>C (p.Cys158Arg) |
single nucleotide variant |
not specified [RCV004925150] |
Chr10:102351900 [GRCh38] Chr10:104111657 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.4464C>T (p.Tyr1488=) |
single nucleotide variant |
not specified [RCV005239891] |
Chr10:102377110 [GRCh38] Chr10:104136867 [GRCh37] Chr10:10q24.32 |
likely benign |
NM_001377137.1(GBF1):c.1379G>A (p.Arg460His) |
single nucleotide variant |
not specified [RCV005238574] |
Chr10:102360382 [GRCh38] Chr10:104120139 [GRCh37] Chr10:10q24.32 |
likely benign |
NM_001377137.1(GBF1):c.1591C>T (p.Arg531Cys) |
single nucleotide variant |
not provided [RCV005245190] |
Chr10:102361817 [GRCh38] Chr10:104121574 [GRCh37] Chr10:10q24.32 |
likely benign |
NM_001377137.1(GBF1):c.5296G>A (p.Ala1766Thr) |
single nucleotide variant |
not provided [RCV005243675] |
Chr10:102381249 [GRCh38] Chr10:104141006 [GRCh37] Chr10:10q24.32 |
likely benign |
NM_001377137.1(GBF1):c.4045G>A (p.Val1349Met) |
single nucleotide variant |
not provided [RCV005244551] |
Chr10:102376430 [GRCh38] Chr10:104136187 [GRCh37] Chr10:10q24.32 |
likely benign |
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 |
copy number gain |
not provided [RCV000683291] |
Chr10:94346520..135427143 [GRCh37] Chr10:10q23.33-26.3 |
pathogenic |
NM_001377137.1(GBF1):c.4200= (p.Ile1400=) |
variation |
not provided [RCV000964629] |
Chr10:102376712 [GRCh38] Chr10:104136469 [GRCh37] Chr10:10q24.32 |
benign |
NM_001377137.1(GBF1):c.83C>G (p.Thr28Ser) |
single nucleotide variant |
not specified [RCV004315863] |
Chr10:102259021 [GRCh38] Chr10:104018778 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.2749C>T (p.Arg917Cys) |
single nucleotide variant |
not specified [RCV004291698] |
Chr10:102368324 [GRCh38] Chr10:104128081 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.322-132C>G |
single nucleotide variant |
not provided [RCV001593948] |
Chr10:102231233 [GRCh38] Chr10:103990990 [GRCh37] Chr10:10q24.32 |
likely benign |
NM_005029.4(PITX3):c.321+142C>G |
single nucleotide variant |
not provided [RCV001642003] |
Chr10:102231446 [GRCh38] Chr10:103991203 [GRCh37] Chr10:10q24.32 |
benign |
NM_001377137.1(GBF1):c.3528G>A (p.Trp1176Ter) |
single nucleotide variant |
Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV001730754]|Motor axonal neuropathy [RCV001250272] |
Chr10:102370728 [GRCh38] Chr10:104130485 [GRCh37] Chr10:10q24.32 |
pathogenic|likely pathogenic |
NM_001377137.1(GBF1):c.3413C>T (p.Ala1138Val) |
single nucleotide variant |
Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV001730755]|Motor axonal neuropathy [RCV001251623] |
Chr10:102370385 [GRCh38] Chr10:104130142 [GRCh37] Chr10:10q24.32 |
pathogenic|likely pathogenic |
NM_005029.4(PITX3):c.650del (p.Gly217fs) |
deletion |
Cataract 11, posterior polar [RCV000043531]|Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities [RCV000043534] |
Chr10:102230773 [GRCh38] Chr10:103990530 [GRCh37] Chr10:10q24.32 |
pathogenic |
NM_005029.4(PITX3):c.285C>A (p.Ile95=) |
single nucleotide variant |
not provided [RCV000830831] |
Chr10:102231624 [GRCh38] Chr10:103991381 [GRCh37] Chr10:10q24.32 |
likely benign |
NM_005029.4(PITX3):c.762C>A (p.Tyr254Ter) |
single nucleotide variant |
PITX3-related disorder [RCV004731029]|not provided [RCV000760543] |
Chr10:102230661 [GRCh38] Chr10:103990418 [GRCh37] Chr10:10q24.32 |
likely pathogenic |
NM_005029.4(PITX3):c.448G>T (p.Gly150Cys) |
single nucleotide variant |
not provided [RCV001338728] |
Chr10:102230975 [GRCh38] Chr10:103990732 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.414G>T (p.Gly138=) |
single nucleotide variant |
not provided [RCV001363185] |
Chr10:102231009 [GRCh38] Chr10:103990766 [GRCh37] Chr10:10q24.32 |
likely benign|uncertain significance |
NM_005029.4(PITX3):c.38G>A (p.Ser13Asn) |
single nucleotide variant |
Cataract 11 multiple types [RCV000007351]|not provided [RCV005243096] |
Chr10:102232043 [GRCh38] Chr10:103991800 [GRCh37] Chr10:10q24.32 |
pathogenic|likely pathogenic |
NM_001377137.1(GBF1):c.129C>T (p.Phe43=) |
single nucleotide variant |
not specified [RCV005236920] |
Chr10:102260082 [GRCh38] Chr10:104019839 [GRCh37] Chr10:10q24.32 |
benign |
NM_005029.4(PITX3):c.397T>C (p.Phe133Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004040128]|not provided [RCV001766995] |
Chr10:102231026 [GRCh38] Chr10:103990783 [GRCh37] Chr10:10q24.32 |
uncertain significance |
GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590) |
copy number loss |
not specified [RCV002052885] |
Chr10:104030479..115410590 [GRCh37] Chr10:10q24.32-25.3 |
pathogenic |
NM_001377137.1(GBF1):c.2732_2733del (p.Pro911fs) |
deletion |
Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV002498076]|not provided [RCV002034117] |
Chr10:102368307..102368308 [GRCh38] Chr10:104128064..104128065 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.218G>T (p.Arg73Leu) |
single nucleotide variant |
not provided [RCV001976846] |
Chr10:102344105 [GRCh38] Chr10:104103862 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.636_637dup (p.Gly213fs) |
duplication |
not provided [RCV001951039] |
Chr10:102230785..102230786 [GRCh38] Chr10:103990542..103990543 [GRCh37] Chr10:10q24.32 |
pathogenic |
NM_001377137.1(GBF1):c.3604G>A (p.Val1202Met) |
single nucleotide variant |
not provided [RCV003121741] |
Chr10:102370804 [GRCh38] Chr10:104130561 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.5501C>T (p.Ala1834Val) |
single nucleotide variant |
Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV002273266] |
Chr10:102382254 [GRCh38] Chr10:104142011 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.5294G>C (p.Gly1765Ala) |
single nucleotide variant |
Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV002267560] |
Chr10:102381247 [GRCh38] Chr10:104141004 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.1006C>T (p.Leu336Phe) |
single nucleotide variant |
not specified [RCV004218877] |
Chr10:102358724 [GRCh38] Chr10:104118481 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.758A>G (p.Asn253Ser) |
single nucleotide variant |
not specified [RCV004086493] |
Chr10:102358157 [GRCh38] Chr10:104117914 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.2027A>T (p.Lys676Met) |
single nucleotide variant |
not specified [RCV004129070] |
Chr10:102363719 [GRCh38] Chr10:104123476 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.699G>A (p.Gly233=) |
single nucleotide variant |
not provided [RCV002998740] |
Chr10:102230724 [GRCh38] Chr10:103990481 [GRCh37] Chr10:10q24.32 |
likely benign |
NM_001377137.1(GBF1):c.1866A>T (p.Glu622Asp) |
single nucleotide variant |
not specified [RCV004098924] |
Chr10:102362654 [GRCh38] Chr10:104122411 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.3412G>A (p.Ala1138Thr) |
single nucleotide variant |
not specified [RCV004240633] |
Chr10:102370384 [GRCh38] Chr10:104130141 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.764C>T (p.Thr255Ile) |
single nucleotide variant |
not specified [RCV004143574] |
Chr10:102358163 [GRCh38] Chr10:104117920 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.3073C>T (p.Arg1025Trp) |
single nucleotide variant |
not specified [RCV004179954] |
Chr10:102369310 [GRCh38] Chr10:104129067 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.4307A>G (p.Lys1436Arg) |
single nucleotide variant |
not specified [RCV004236671] |
Chr10:102376953 [GRCh38] Chr10:104136710 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.5136C>A (p.His1712Gln) |
single nucleotide variant |
not specified [RCV004239666] |
Chr10:102380649 [GRCh38] Chr10:104140406 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.824C>T (p.Ser275Phe) |
single nucleotide variant |
not specified [RCV004130414] |
Chr10:102358542 [GRCh38] Chr10:104118299 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.1805C>G (p.Thr602Ser) |
single nucleotide variant |
not specified [RCV004202272] |
Chr10:102362593 [GRCh38] Chr10:104122350 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.677C>T (p.Ala226Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002983958] |
Chr10:102230746 [GRCh38] Chr10:103990503 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.3545A>T (p.His1182Leu) |
single nucleotide variant |
not specified [RCV004201616] |
Chr10:102370745 [GRCh38] Chr10:104130502 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.958G>T (p.Ala320Ser) |
single nucleotide variant |
not specified [RCV004134567] |
Chr10:102358676 [GRCh38] Chr10:104118433 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.1955G>A (p.Arg652Gln) |
single nucleotide variant |
not specified [RCV004220416] |
Chr10:102363334 [GRCh38] Chr10:104123091 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.2225G>A (p.Arg742Gln) |
single nucleotide variant |
not specified [RCV004087962] |
Chr10:102365515 [GRCh38] Chr10:104125272 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.322-11C>G |
single nucleotide variant |
not provided [RCV002612012] |
Chr10:102231112 [GRCh38] Chr10:103990869 [GRCh37] Chr10:10q24.32 |
likely benign |
NM_005029.4(PITX3):c.181A>C (p.Lys61Gln) |
single nucleotide variant |
not provided [RCV003134928] |
Chr10:102231728 [GRCh38] Chr10:103991485 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.5160G>C (p.Gln1720His) |
single nucleotide variant |
not specified [RCV004271763] |
Chr10:102380673 [GRCh38] Chr10:104140430 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.1199A>G (p.Tyr400Cys) |
single nucleotide variant |
not specified [RCV004271936] |
Chr10:102360202 [GRCh38] Chr10:104119959 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.5546G>A (p.Arg1849His) |
single nucleotide variant |
not specified [RCV004255772] |
Chr10:102382299 [GRCh38] Chr10:104142056 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.3056G>A (p.Arg1019His) |
single nucleotide variant |
not specified [RCV004250161] |
Chr10:102369293 [GRCh38] Chr10:104129050 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.4738A>G (p.Lys1580Glu) |
single nucleotide variant |
not specified [RCV004272907] |
Chr10:102379613 [GRCh38] Chr10:104139370 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.4607G>A (p.Arg1536His) |
single nucleotide variant |
not specified [RCV004277270] |
Chr10:102379396 [GRCh38] Chr10:104139153 [GRCh37] Chr10:10q24.32 |
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_001377137.1(GBF1):c.1774C>G (p.His592Asp) |
single nucleotide variant |
not specified [RCV004359893] |
Chr10:102362562 [GRCh38] Chr10:104122319 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.661G>A (p.Gly221Ser) |
single nucleotide variant |
not provided [RCV003725923] |
Chr10:102230762 [GRCh38] Chr10:103990519 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.441G>T (p.Val147=) |
single nucleotide variant |
not provided [RCV003690271] |
Chr10:102230982 [GRCh38] Chr10:103990739 [GRCh37] Chr10:10q24.32 |
likely benign |
NM_005029.4(PITX3):c.703G>A (p.Val235Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004961289]|PITX3-related disorder [RCV003419104]|not provided [RCV003708796] |
Chr10:102230720 [GRCh38] Chr10:103990477 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.5184C>T (p.Pro1728=) |
single nucleotide variant |
not provided [RCV003456721] |
Chr10:102381137 [GRCh38] Chr10:104140894 [GRCh37] Chr10:10q24.32 |
likely benign |
NM_005029.4(PITX3):c.586G>A (p.Ala196Thr) |
single nucleotide variant |
not provided [RCV003558976] |
Chr10:102230837 [GRCh38] Chr10:103990594 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.520A>G (p.Ser174Gly) |
single nucleotide variant |
Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV005208321] |
Chr10:102351948 [GRCh38] Chr10:104111705 [GRCh37] Chr10:10q24.32 |
uncertain significance |
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 |
copy number gain |
not specified [RCV003986893] |
Chr10:95078198..135427143 [GRCh37] Chr10:10q23.33-26.3 |
pathogenic |
NM_005029.4(PITX3):c.662G>C (p.Gly221Ala) |
single nucleotide variant |
not provided [RCV003885204] |
Chr10:102230761 [GRCh38] Chr10:103990518 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.3499G>A (p.Glu1167Lys) |
single nucleotide variant |
Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV003990599] |
Chr10:102370471 [GRCh38] Chr10:104130228 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.677C>A (p.Ala226Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004506225] |
Chr10:102230746 [GRCh38] Chr10:103990503 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.464A>G (p.Asn155Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004506224] |
Chr10:102230959 [GRCh38] Chr10:103990716 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.269G>C (p.Ser90Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004506222] |
Chr10:102231640 [GRCh38] Chr10:103991397 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.114C>A (p.His38Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004506221] |
Chr10:102231967 [GRCh38] Chr10:103991724 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.556G>C (p.Val186Leu) |
single nucleotide variant |
Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV004556026] |
Chr10:102352490 [GRCh38] Chr10:104112247 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.2899G>A (p.Ala967Thr) |
single nucleotide variant |
not specified [RCV004634627] |
Chr10:102368758 [GRCh38] Chr10:104128515 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.4073C>G (p.Ser1358Cys) |
single nucleotide variant |
not specified [RCV004634643] |
Chr10:102376585 [GRCh38] Chr10:104136342 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.5508C>G (p.Ile1836Met) |
single nucleotide variant |
not specified [RCV004634645] |
Chr10:102382261 [GRCh38] Chr10:104142018 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.707C>T (p.Pro236Leu) |
single nucleotide variant |
not specified [RCV004623844] |
Chr10:102358106 [GRCh38] Chr10:104117863 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.5407C>T (p.Pro1803Ser) |
single nucleotide variant |
not specified [RCV004623845] |
Chr10:102382160 [GRCh38] Chr10:104141917 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.32C>A (p.Ala11Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004648333] |
Chr10:102232049 [GRCh38] Chr10:103991806 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.1112C>T (p.Ala371Val) |
single nucleotide variant |
not specified [RCV004634640] |
Chr10:102359367 [GRCh38] Chr10:104119124 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.1408C>T (p.Arg470Ter) |
single nucleotide variant |
not provided [RCV004793292] |
Chr10:102361037 [GRCh38] Chr10:104120794 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.1973G>A (p.Gly658Glu) |
single nucleotide variant |
not provided [RCV004793293] |
Chr10:102363352 [GRCh38] Chr10:104123109 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.4414C>T (p.Arg1472Trp) |
single nucleotide variant |
not provided [RCV004793294] |
Chr10:102377060 [GRCh38] Chr10:104136817 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.1840T>C (p.Cys614Arg) |
single nucleotide variant |
not provided [RCV004810043] |
Chr10:102362628 [GRCh38] Chr10:104122385 [GRCh37] Chr10:10q24.32 |
likely benign |
NM_005029.4(PITX3):c.738C>T (p.Ala246=) |
single nucleotide variant |
PITX3-related disorder [RCV004756768] |
Chr10:102230685 [GRCh38] Chr10:103990442 [GRCh37] Chr10:10q24.32 |
likely benign |
NM_005029.4(PITX3):c.630A>C (p.Pro210=) |
single nucleotide variant |
PITX3-related disorder [RCV004757073] |
Chr10:102230793 [GRCh38] Chr10:103990550 [GRCh37] Chr10:10q24.32 |
likely benign |
NM_005029.4(PITX3):c.456G>T (p.Ser152=) |
single nucleotide variant |
PITX3-related disorder [RCV004756802] |
Chr10:102230967 [GRCh38] Chr10:103990724 [GRCh37] Chr10:10q24.32 |
likely benign |
NM_005029.4(PITX3):c.669del (p.Leu225fs) |
deletion |
not provided [RCV004719441] |
Chr10:102230754 [GRCh38] Chr10:103990511 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.613G>A (p.Ala205Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004961881] |
Chr10:102230810 [GRCh38] Chr10:103990567 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.436G>A (p.Glu146Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004961882] |
Chr10:102230987 [GRCh38] Chr10:103990744 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_005029.4(PITX3):c.726CGC[4] (p.Ala250del) |
microsatellite |
not provided [RCV005113215] |
Chr10:102230683..102230685 [GRCh38] Chr10:103990440..103990442 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.3875C>G (p.Ala1292Gly) |
single nucleotide variant |
not specified [RCV004924507] |
Chr10:102375573 [GRCh38] Chr10:104135330 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.2822A>T (p.Tyr941Phe) |
single nucleotide variant |
not specified [RCV004924508] |
Chr10:102368397 [GRCh38] Chr10:104128154 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.4420G>A (p.Gly1474Arg) |
single nucleotide variant |
not specified [RCV004924510] |
Chr10:102377066 [GRCh38] Chr10:104136823 [GRCh37] Chr10:10q24.32 |
uncertain significance |
NM_001377137.1(GBF1):c.5294G>A (p.Gly1765Glu) |
single nucleotide variant |
not specified [RCV004925147] |
Chr10:102381247 [GRCh38] Chr10:104141004 [GRCh37] Chr10:10q24.32 |
uncertain significance |