NM_002392.6(MDM2):c.14+309T>G |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV000014918]|not provided [RCV004707852] |
Chr12:68808800 [GRCh38] Chr12:69202580 [GRCh37] Chr12:12q15 |
risk factor|benign |
GRCh38/hg38 12q14.2-15(chr12:64368308-69123358)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052815]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052815]|See cases [RCV000052815] |
Chr12:64368308..69123358 [GRCh38] Chr12:64762088..69517138 [GRCh37] Chr12:63048355..67803405 [NCBI36] Chr12:12q14.2-15 |
pathogenic |
GRCh38/hg38 12q14.3-15(chr12:65958499-69057308)x1 |
copy number loss |
See cases [RCV000052816] |
Chr12:65958499..69057308 [GRCh38] Chr12:66352279..69451088 [GRCh37] Chr12:64638546..67737355 [NCBI36] Chr12:12q14.3-15 |
pathogenic|likely pathogenic |
GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1 |
copy number loss |
See cases [RCV000135587] |
Chr12:68011417..75383054 [GRCh38] Chr12:68405197..75776834 [GRCh37] Chr12:66691464..74063101 [NCBI36] Chr12:12q15-21.2 |
likely pathogenic|uncertain significance |
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 |
copy number gain |
See cases [RCV000139555] |
Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1 |
copy number loss |
See cases [RCV000142445] |
Chr12:65445176..71026337 [GRCh38] Chr12:65838956..71420117 [GRCh37] Chr12:64125223..69706384 [NCBI36] Chr12:12q14.3-15 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
NM_002392.6(MDM2):c.1121A>G (p.Asn374Ser) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001368105] |
Chr12:68839476 [GRCh38] Chr12:69233256 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.631A>C (p.Ile211Leu) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV000531653]|not specified [RCV004024212] |
Chr12:68828878 [GRCh38] Chr12:69222658 [GRCh37] Chr12:12q15 |
uncertain significance |
GRCh37/hg19 12q14.1-15(chr12:59495114-70574966)x1 |
copy number loss |
See cases [RCV000447164] |
Chr12:59495114..70574966 [GRCh37] Chr12:12q14.1-15 |
pathogenic |
NM_002392.6(MDM2):c.607C>T (p.Leu203=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV000553365]|MDM2-related condition [RCV004758705]|not provided [RCV004707335] |
Chr12:68828854 [GRCh38] Chr12:69222634 [GRCh37] Chr12:12q15 |
benign |
GRCh37/hg19 12q15(chr12:69032901-69432620)x4 |
copy number gain |
See cases [RCV000445932] |
Chr12:69032901..69432620 [GRCh37] Chr12:12q15 |
uncertain significance |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 |
copy number gain |
See cases [RCV000510482] |
Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) |
copy number gain |
See cases [RCV000511643] |
Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NM_002392.6(MDM2):c.100-10C>A |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV000538596]|not provided [RCV004708941] |
Chr12:68813544 [GRCh38] Chr12:69207324 [GRCh37] Chr12:12q15 |
benign |
NM_002392.6(MDM2):c.565C>T (p.Arg189Cys) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV000649880] |
Chr12:68828812 [GRCh38] Chr12:69222592 [GRCh37] Chr12:12q15 |
uncertain significance |
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 |
copy number gain |
not provided [RCV000750246] |
Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 |
copy number gain |
not provided [RCV000750253] |
Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NM_002392.6(MDM2):c.14+55C>T |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001520940]|not provided [RCV004705792] |
Chr12:68808546 [GRCh38] Chr12:69202326 [GRCh37] Chr12:12q15 |
benign|likely benign |
NM_002392.6(MDM2):c.1492T>C (p.Ter498Gln) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV004813145]|Lessel-kubisch syndrome [RCV000856714] |
Chr12:68839847 [GRCh38] Chr12:69233627 [GRCh37] Chr12:12q15 |
pathogenic|likely pathogenic |
NM_002392.6(MDM2):c.524-3C>T |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001400522] |
Chr12:68828768 [GRCh38] Chr12:69222548 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.44C>T (p.Pro15Leu) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001061986]|Accelerated tumor formation, susceptibility to [RCV005005022]|Lessel-kubisch syndrome [RCV005394707] |
Chr12:68809237 [GRCh38] Chr12:69203017 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1202C>G (p.Ser401Cys) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001242918] |
Chr12:68839557 [GRCh38] Chr12:69233337 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.918T>C (p.Ala306=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001239900] |
Chr12:68836749 [GRCh38] Chr12:69230529 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.999G>T (p.Glu333Asp) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003105209] |
Chr12:68839354 [GRCh38] Chr12:69233134 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.961C>T (p.Leu321Phe) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001211000] |
Chr12:68839316 [GRCh38] Chr12:69233096 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.995G>A (p.Arg332His) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001060294]|Accelerated tumor formation, susceptibility to [RCV005005020] |
Chr12:68839350 [GRCh38] Chr12:69233130 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.955C>A (p.Pro319Thr) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001219017] |
Chr12:68839310 [GRCh38] Chr12:69233090 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1241A>T (p.Gln414Leu) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001217018] |
Chr12:68839596 [GRCh38] Chr12:69233376 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1446A>G (p.Pro482=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001205406] |
Chr12:68839801 [GRCh38] Chr12:69233581 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.683C>T (p.Pro228Leu) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001055702] |
Chr12:68828930 [GRCh38] Chr12:69222710 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.309G>A (p.Arg103=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001247427] |
Chr12:68820325 [GRCh38] Chr12:69214105 [GRCh37] Chr12:12q15 |
uncertain significance |
GRCh37/hg19 12q15(chr12:68572386-70833868)x1 |
copy number loss |
not provided [RCV001259617] |
Chr12:68572386..70833868 [GRCh37] Chr12:12q15 |
pathogenic |
NM_002392.6(MDM2):c.350A>G (p.Asn117Ser) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001350990]|not specified [RCV004036641] |
Chr12:68820366 [GRCh38] Chr12:69214146 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.560G>C (p.Arg187Thr) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001326190] |
Chr12:68828807 [GRCh38] Chr12:69222587 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.450A>G (p.Glu150=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001433550] |
Chr12:68824578 [GRCh38] Chr12:69218358 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.1232A>G (p.Tyr411Cys) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001319458]|not specified [RCV004034971] |
Chr12:68839587 [GRCh38] Chr12:69233367 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.583A>G (p.Ile195Val) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001297108] |
Chr12:68828830 [GRCh38] Chr12:69222610 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.777T>C (p.Ser259=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001450569] |
Chr12:68835921 [GRCh38] Chr12:69229701 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.264A>G (p.Leu88=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001404590] |
Chr12:68816901 [GRCh38] Chr12:69210681 [GRCh37] Chr12:12q15 |
likely benign |
NC_000012.12:g.68808017C>G |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001509967] |
Chr12:68808017 [GRCh38] Chr12:69201797 [GRCh37] Chr12:12q15 |
benign |
NM_002392.6(MDM2):c.1002T>C (p.Asn334=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001471422] |
Chr12:68839357 [GRCh38] Chr12:69233137 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.1080A>G (p.Glu360=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001517224]|not provided [RCV004709054] |
Chr12:68839435 [GRCh38] Chr12:69233215 [GRCh37] Chr12:12q15 |
benign |
NM_002392.6(MDM2):c.724T>C (p.Leu242=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001479493] |
Chr12:68835868 [GRCh38] Chr12:69229648 [GRCh37] Chr12:12q15 |
likely benign |
GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1 |
copy number loss |
not provided [RCV001537907] |
Chr12:65251705..75263379 [GRCh37] Chr12:12q14.3-21.1 |
pathogenic |
NM_002392.6(MDM2):c.175-7A>G |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001494474] |
Chr12:68816805 [GRCh38] Chr12:69210585 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.366G>A (p.Ser122=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001475884] |
Chr12:68824370 [GRCh38] Chr12:69218150 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.447G>A (p.Gln149=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001496590] |
Chr12:68824575 [GRCh38] Chr12:69218355 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.-94A>G |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001509968]|not provided [RCV004707634] |
Chr12:68808384 [GRCh38] Chr12:69202164 [GRCh37] Chr12:12q15 |
benign |
NM_002392.6(MDM2):c.960C>G (p.Pro320=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001455869] |
Chr12:68839315 [GRCh38] Chr12:69233095 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.14+285G>C |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001518321] |
Chr12:68808776 [GRCh38] Chr12:69202556 [GRCh37] Chr12:12q15 |
benign |
NM_002392.6(MDM2):c.385A>C (p.Ser129Arg) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003011639] |
Chr12:68824389 [GRCh38] Chr12:69218169 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.185A>T (p.Tyr62Phe) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001895953] |
Chr12:68816822 [GRCh38] Chr12:69210602 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.536A>G (p.Asp179Gly) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002025289] |
Chr12:68828783 [GRCh38] Chr12:69222563 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.226A>C (p.Lys76Gln) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001947987] |
Chr12:68816863 [GRCh38] Chr12:69210643 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.85G>A (p.Glu29Lys) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001894478] |
Chr12:68809278 [GRCh38] Chr12:69203058 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.91G>C (p.Glu31Gln) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001894316]|not specified [RCV004641713] |
Chr12:68809284 [GRCh38] Chr12:69203064 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.971A>T (p.His324Leu) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001889387] |
Chr12:68839326 [GRCh38] Chr12:69233106 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.886T>G (p.Ser296Ala) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001966673] |
Chr12:68836717 [GRCh38] Chr12:69230497 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1237A>G (p.Ser413Gly) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002048016] |
Chr12:68839592 [GRCh38] Chr12:69233372 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.15-2A>G |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001888518] |
Chr12:68809206 [GRCh38] Chr12:69202986 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.365C>T (p.Ser122Leu) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001959738] |
Chr12:68824369 [GRCh38] Chr12:69218149 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1219A>G (p.Ser407Gly) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001957660] |
Chr12:68839574 [GRCh38] Chr12:69233354 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.698_700del (p.Gly233del) |
deletion |
Accelerated tumor formation, susceptibility to [RCV001899541] |
Chr12:68835840..68835842 [GRCh38] Chr12:69229620..69229622 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.46A>G (p.Thr16Ala) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002014376] |
Chr12:68809239 [GRCh38] Chr12:69203019 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1242A>C (p.Gln414His) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001867545] |
Chr12:68839597 [GRCh38] Chr12:69233377 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.154G>C (p.Asp52His) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001918232] |
Chr12:68813608 [GRCh38] Chr12:69207388 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.818A>C (p.Glu273Ala) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002028690]|not specified [RCV004824058] |
Chr12:68835962 [GRCh38] Chr12:69229742 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.523+5A>G |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001905692]|Accelerated tumor formation, susceptibility to [RCV005006156] |
Chr12:68824656 [GRCh38] Chr12:69218436 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.948A>C (p.Glu316Asp) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001957654] |
Chr12:68839303 [GRCh38] Chr12:69233083 [GRCh37] Chr12:12q15 |
uncertain significance |
NC_000012.11:g.(?_69202258)_(69233629_?)dup |
duplication |
Accelerated tumor formation, susceptibility to [RCV001900526] |
Chr12:69202258..69233629 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1289A>T (p.Glu430Val) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001997086] |
Chr12:68839644 [GRCh38] Chr12:69233424 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.14+3A>G |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001954751] |
Chr12:68808494 [GRCh38] Chr12:69202274 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.57_59del (p.Val20del) |
deletion |
Accelerated tumor formation, susceptibility to [RCV002033358] |
Chr12:68809250..68809252 [GRCh38] Chr12:69203030..69203032 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.212G>A (p.Arg71Gln) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002017467] |
Chr12:68816849 [GRCh38] Chr12:69210629 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.913T>G (p.Leu305Val) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001959539] |
Chr12:68836744 [GRCh38] Chr12:69230524 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1002T>A (p.Asn334Lys) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001881016] |
Chr12:68839357 [GRCh38] Chr12:69233137 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1039A>G (p.Ile347Val) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV001918677] |
Chr12:68839394 [GRCh38] Chr12:69233174 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.99+13del |
deletion |
Accelerated tumor formation, susceptibility to [RCV002187662] |
Chr12:68809305 [GRCh38] Chr12:69203085 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.524-8A>G |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002205727] |
Chr12:68828763 [GRCh38] Chr12:69222543 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.1491C>T (p.Pro497=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002125746] |
Chr12:68839846 [GRCh38] Chr12:69233626 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.840+14del |
deletion |
Accelerated tumor formation, susceptibility to [RCV002208603] |
Chr12:68835991 [GRCh38] Chr12:69229771 [GRCh37] Chr12:12q15 |
benign |
NM_002392.6(MDM2):c.816A>G (p.Gln272=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002127091] |
Chr12:68835960 [GRCh38] Chr12:69229740 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.175-13A>G |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002196868] |
Chr12:68816799 [GRCh38] Chr12:69210579 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.919-11T>C |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002113901] |
Chr12:68839263 [GRCh38] Chr12:69233043 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.99+7_99+14del |
deletion |
Accelerated tumor formation, susceptibility to [RCV002131030] |
Chr12:68809297..68809304 [GRCh38] Chr12:69203077..69203084 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.309-5A>C |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002215209] |
Chr12:68820320 [GRCh38] Chr12:69214100 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.359-15T>C |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002117601] |
Chr12:68824348 [GRCh38] Chr12:69218128 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.162T>C (p.Tyr54=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002102792] |
Chr12:68813616 [GRCh38] Chr12:69207396 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.15-9dup |
duplication |
Accelerated tumor formation, susceptibility to [RCV002143594] |
Chr12:68809191..68809192 [GRCh38] Chr12:69202971..69202972 [GRCh37] Chr12:12q15 |
benign |
NM_002392.6(MDM2):c.15-9del |
deletion |
Accelerated tumor formation, susceptibility to [RCV002201216] |
Chr12:68809192 [GRCh38] Chr12:69202972 [GRCh37] Chr12:12q15 |
benign |
NM_002392.6(MDM2):c.918+15A>T |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002117864] |
Chr12:68836764 [GRCh38] Chr12:69230544 [GRCh37] Chr12:12q15 |
benign |
NM_002392.6(MDM2):c.1365C>T (p.Cys455=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002220921]|not provided [RCV004704707] |
Chr12:68839720 [GRCh38] Chr12:69233500 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.243A>G (p.Val81=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002123721] |
Chr12:68816880 [GRCh38] Chr12:69210660 [GRCh37] Chr12:12q15 |
likely benign |
GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1 |
copy number loss |
not provided [RCV002511748] |
Chr12:64609458..70352103 [GRCh37] Chr12:12q14.2-15 |
pathogenic |
NM_002392.6(MDM2):c.372A>G (p.Ser124=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002967779] |
Chr12:68824376 [GRCh38] Chr12:69218156 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.684+19G>A |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003073995] |
Chr12:68828950 [GRCh38] Chr12:69222730 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.99+14T>G |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002794983] |
Chr12:68809306 [GRCh38] Chr12:69203086 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.1030A>G (p.Lys344Glu) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002839484] |
Chr12:68839385 [GRCh38] Chr12:69233165 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.421C>G (p.Gln141Glu) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002615264] |
Chr12:68824425 [GRCh38] Chr12:69218205 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.174+18A>G |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002613782] |
Chr12:68813646 [GRCh38] Chr12:69207426 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.403C>T (p.Leu135Phe) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002926834] |
Chr12:68824407 [GRCh38] Chr12:69218187 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.398G>A (p.Cys133Tyr) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002662600] |
Chr12:68824402 [GRCh38] Chr12:69218182 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.14+5T>G |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002923045] |
Chr12:68808496 [GRCh38] Chr12:69202276 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1301C>G (p.Ser434Cys) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002691215] |
Chr12:68839656 [GRCh38] Chr12:69233436 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.910T>C (p.Ser304Pro) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002619737] |
Chr12:68836741 [GRCh38] Chr12:69230521 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1114A>G (p.Ile372Val) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002638650] |
Chr12:68839469 [GRCh38] Chr12:69233249 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1011T>A (p.Pro337=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003038274] |
Chr12:68839366 [GRCh38] Chr12:69233146 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.840+6dup |
duplication |
Accelerated tumor formation, susceptibility to [RCV002953174] |
Chr12:68835989..68835990 [GRCh38] Chr12:69229769..69229770 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.99+12del |
deletion |
Accelerated tumor formation, susceptibility to [RCV002766660] |
Chr12:68809300 [GRCh38] Chr12:69203080 [GRCh37] Chr12:12q15 |
benign |
NM_002392.6(MDM2):c.393C>T (p.Asn131=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002625420] |
Chr12:68824397 [GRCh38] Chr12:69218177 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.1161A>C (p.Lys387Asn) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003085125] |
Chr12:68839516 [GRCh38] Chr12:69233296 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.99+8T>C |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003083868] |
Chr12:68809300 [GRCh38] Chr12:69203080 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.615G>C (p.Leu205=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003082790] |
Chr12:68828862 [GRCh38] Chr12:69222642 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.175-15A>T |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002891000] |
Chr12:68816797 [GRCh38] Chr12:69210577 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.359-4T>G |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002890240] |
Chr12:68824359 [GRCh38] Chr12:69218139 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.1248T>C (p.Asp416=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003084086] |
Chr12:68839603 [GRCh38] Chr12:69233383 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.589C>T (p.Leu197Phe) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002626604] |
Chr12:68828836 [GRCh38] Chr12:69222616 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.431T>C (p.Leu144Pro) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003089923]|not specified [RCV004073126] |
Chr12:68824559 [GRCh38] Chr12:69218339 [GRCh37] Chr12:12q15 |
likely benign|uncertain significance |
NM_002392.6(MDM2):c.684+20T>C |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002601719] |
Chr12:68828951 [GRCh38] Chr12:69222731 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.88C>A (p.Gln30Lys) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003066042] |
Chr12:68809281 [GRCh38] Chr12:69203061 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1191T>G (p.Ser397Arg) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002966470] |
Chr12:68839546 [GRCh38] Chr12:69233326 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.305A>G (p.His102Arg) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003047192] |
Chr12:68816942 [GRCh38] Chr12:69210722 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1190G>A (p.Ser397Asn) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002647445]|not specified [RCV004070702] |
Chr12:68839545 [GRCh38] Chr12:69233325 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.841-16G>T |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002876942] |
Chr12:68836656 [GRCh38] Chr12:69230436 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.359-8TC[2] |
microsatellite |
Accelerated tumor formation, susceptibility to [RCV002937705] |
Chr12:68824355..68824356 [GRCh38] Chr12:69218135..69218136 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.613C>G (p.Leu205Val) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003088284] |
Chr12:68828860 [GRCh38] Chr12:69222640 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1304G>A (p.Ser435Asn) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002938109] |
Chr12:68839659 [GRCh38] Chr12:69233439 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.919G>A (p.Asp307Asn) |
single nucleotide variant |
not specified [RCV004163554] |
Chr12:68839274 [GRCh38] Chr12:69233054 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1079A>G (p.Glu360Gly) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002814719] |
Chr12:68839434 [GRCh38] Chr12:69233214 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1202C>T (p.Ser401Phe) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003051470] |
Chr12:68839557 [GRCh38] Chr12:69233337 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.234A>G (p.Gln78=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003073288] |
Chr12:68816871 [GRCh38] Chr12:69210651 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.694G>T (p.Ala232Ser) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002606216] |
Chr12:68835838 [GRCh38] Chr12:69229618 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.643A>G (p.Arg215Gly) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002943900] |
Chr12:68828890 [GRCh38] Chr12:69222670 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.99+17C>T |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV002582205] |
Chr12:68809309 [GRCh38] Chr12:69203089 [GRCh37] Chr12:12q15 |
likely benign |
GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1 |
copy number loss |
not provided [RCV003483154] |
Chr12:61755618..70035424 [GRCh37] Chr12:12q14.1-15 |
pathogenic |
NM_002392.6(MDM2):c.175-18A>G |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003630806] |
Chr12:68816794 [GRCh38] Chr12:69210574 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.582T>A (p.Ser194Arg) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003630830] |
Chr12:68828829 [GRCh38] Chr12:69222609 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.792T>C (p.Asp264=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003515551] |
Chr12:68835936 [GRCh38] Chr12:69229716 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.309-5A>G |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003630856] |
Chr12:68820320 [GRCh38] Chr12:69214100 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.524-18T>G |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003630763] |
Chr12:68828753 [GRCh38] Chr12:69222533 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.1485T>C (p.Tyr495=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003514246] |
Chr12:68839840 [GRCh38] Chr12:69233620 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.56C>T (p.Ala19Val) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003630629]|not specified [RCV004371758] |
Chr12:68809249 [GRCh38] Chr12:69203029 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.524-2A>G |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003630764] |
Chr12:68828769 [GRCh38] Chr12:69222549 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.980G>C (p.Arg327Thr) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003630888] |
Chr12:68839335 [GRCh38] Chr12:69233115 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.279C>T (p.Gly93=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003630893] |
Chr12:68816916 [GRCh38] Chr12:69210696 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.156C>T (p.Asp52=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003516259] |
Chr12:68813610 [GRCh38] Chr12:69207390 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.672G>A (p.Thr224=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003629487] |
Chr12:68828919 [GRCh38] Chr12:69222699 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.1309C>T (p.Pro437Ser) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003514074] |
Chr12:68839664 [GRCh38] Chr12:69233444 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1150A>T (p.Asn384Tyr) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003515760] |
Chr12:68839505 [GRCh38] Chr12:69233285 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.50A>G (p.Asp17Gly) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003629745] |
Chr12:68809243 [GRCh38] Chr12:69203023 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.15-11T>C |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003629810] |
Chr12:68809197 [GRCh38] Chr12:69202977 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.1103G>A (p.Cys368Tyr) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003630359] |
Chr12:68839458 [GRCh38] Chr12:69233238 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.864G>A (p.Gln288=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003515708] |
Chr12:68836695 [GRCh38] Chr12:69230475 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.858G>T (p.Val286=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003515081] |
Chr12:68836689 [GRCh38] Chr12:69230469 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.783C>T (p.Asp261=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003629300] |
Chr12:68835927 [GRCh38] Chr12:69229707 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.992T>G (p.Leu331Arg) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003516268] |
Chr12:68839347 [GRCh38] Chr12:69233127 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1284_1287del (p.Glu429fs) |
deletion |
Accelerated tumor formation, susceptibility to [RCV003630079] |
Chr12:68839637..68839640 [GRCh38] Chr12:69233417..69233420 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.443T>C (p.Leu148Pro) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003629829] |
Chr12:68824571 [GRCh38] Chr12:69218351 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1368T>C (p.Ile456=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003629652] |
Chr12:68839723 [GRCh38] Chr12:69233503 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.1179A>G (p.Gln393=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003628638] |
Chr12:68839534 [GRCh38] Chr12:69233314 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.178C>G (p.Leu60Val) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003629790] |
Chr12:68816815 [GRCh38] Chr12:69210595 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.685-20A>T |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003513932] |
Chr12:68835809 [GRCh38] Chr12:69229589 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.685-18A>T |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003513933] |
Chr12:68835811 [GRCh38] Chr12:69229591 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.377C>T (p.Thr126Ile) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003513998] |
Chr12:68824381 [GRCh38] Chr12:69218161 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1405A>T (p.Thr469Ser) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003514041] |
Chr12:68839760 [GRCh38] Chr12:69233540 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.815A>G (p.Gln272Arg) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003631020] |
Chr12:68835959 [GRCh38] Chr12:69229739 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.100-5T>G |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003835078] |
Chr12:68813549 [GRCh38] Chr12:69207329 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.652A>G (p.Ser218Gly) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003871275] |
Chr12:68828899 [GRCh38] Chr12:69222679 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.685-3del |
deletion |
Accelerated tumor formation, susceptibility to [RCV003842289] |
Chr12:68835823 [GRCh38] Chr12:69229603 [GRCh37] Chr12:12q15 |
benign |
NM_002392.6(MDM2):c.840+14T>C |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV003863417] |
Chr12:68835998 [GRCh38] Chr12:69229778 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.865G>A (p.Ala289Thr) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV005006389]|Accelerated tumor formation, susceptibility to [RCV005104542]|not specified [RCV004421472] |
Chr12:68836696 [GRCh38] Chr12:69230476 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.14+19G>A |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV005011565] |
Chr12:68808510 [GRCh38] Chr12:69202290 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.28A>C (p.Thr10Pro) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV005011566] |
Chr12:68809221 [GRCh38] Chr12:69203001 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.598G>A (p.Asp200Asn) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV005011567] |
Chr12:68828845 [GRCh38] Chr12:69222625 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1151A>G (p.Asn384Ser) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV005011568] |
Chr12:68839506 [GRCh38] Chr12:69233286 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1073A>C (p.Gln358Pro) |
single nucleotide variant |
not specified [RCV004824112] |
Chr12:68839428 [GRCh38] Chr12:69233208 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.568C>T (p.His190Tyr) |
single nucleotide variant |
not specified [RCV004828101] |
Chr12:68828815 [GRCh38] Chr12:69222595 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.74T>C (p.Ile25Thr) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV005004987] |
Chr12:68809267 [GRCh38] Chr12:69203047 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.301G>C (p.Glu101Gln) |
single nucleotide variant |
not specified [RCV004828098] |
Chr12:68816938 [GRCh38] Chr12:69210718 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.821T>C (p.Leu274Pro) |
single nucleotide variant |
not specified [RCV004828099] |
Chr12:68835965 [GRCh38] Chr12:69229745 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.544T>C (p.Ser182Pro) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV005004988] |
Chr12:68828791 [GRCh38] Chr12:69222571 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1022G>A (p.Gly341Glu) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV005107115]|not specified [RCV005379718] |
Chr12:68839377 [GRCh38] Chr12:69233157 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.780C>T (p.Leu260=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV005170280] |
Chr12:68835924 [GRCh38] Chr12:69229704 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.378A>C (p.Thr126=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV005187207] |
Chr12:68824382 [GRCh38] Chr12:69218162 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.1061A>G (p.Glu354Gly) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV005189655] |
Chr12:68839416 [GRCh38] Chr12:69233196 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.32A>G (p.Asn11Ser) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV005070771] |
Chr12:68809225 [GRCh38] Chr12:69203005 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.857del (p.Val286fs) |
deletion |
not specified [RCV005231828] |
Chr12:68836688 [GRCh38] Chr12:69230468 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.114A>G (p.Pro38=) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV005137023] |
Chr12:68813568 [GRCh38] Chr12:69207348 [GRCh37] Chr12:12q15 |
likely benign |
NM_002392.6(MDM2):c.80C>T (p.Ala27Val) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV005147996] |
Chr12:68809273 [GRCh38] Chr12:69203053 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.625A>G (p.Arg209Gly) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV005181604] |
Chr12:68828872 [GRCh38] Chr12:69222652 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.899A>T (p.Asp300Val) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV005186588] |
Chr12:68836730 [GRCh38] Chr12:69230510 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.419A>T (p.Asp140Val) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV005190424] |
Chr12:68824423 [GRCh38] Chr12:69218203 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.631A>G (p.Ile211Val) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV005176588] |
Chr12:68828878 [GRCh38] Chr12:69222658 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.781G>A (p.Asp261Asn) |
single nucleotide variant |
Accelerated tumor formation, susceptibility to [RCV005128621] |
Chr12:68835925 [GRCh38] Chr12:69229705 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.1267G>C (p.Glu423Gln) |
single nucleotide variant |
not specified [RCV005378057] |
Chr12:68839622 [GRCh38] Chr12:69233402 [GRCh37] Chr12:12q15 |
uncertain significance |
NM_002392.6(MDM2):c.533C>T (p.Ser178Leu) |
single nucleotide variant |
not specified [RCV005378056] |
Chr12:68828780 [GRCh38] Chr12:69222560 [GRCh37] Chr12:12q15 |
uncertain significance |