List of variants reported as uncertain significance for endocrine gland neoplasm by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 119

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HGVS	dbSNP	gnomAD frequency
NM_003977.4(AIP):c.911G>A (p.Arg304Gln)	rs104894190	0.00115
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)	rs140736646	0.00060
NM_003977.4(AIP):c.382C>T (p.Arg128Cys)	rs140530307	0.00054
NM_003977.4(AIP):c.26G>A (p.Arg9Gln)	rs139459091	0.00037
NM_020975.6(RET):c.1531G>A (p.Glu511Lys)	rs201553718	0.00018
NM_003002.4(SDHD):c.101T>G (p.Phe34Cys)	rs141802836	0.00016
NM_020975.6(RET):c.2522C>T (p.Pro841Leu)	rs149891333	0.00015
NM_020975.6(RET):c.1699G>A (p.Asp567Asn)	rs147219360	0.00014
NM_024529.5(CDC73):c.989G>A (p.Arg330Gln)	rs149875598	0.00014
NM_003002.4(SDHD):c.255G>C (p.Leu85Phe)	rs199517389	0.00013
NM_004304.5(ALK):c.1283-5T>C	rs377214413	0.00012
NM_017849.4(TMEM127):c.665C>T (p.Ala222Val)	rs373951977	0.00012
NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu)	rs141679530	0.00011
NM_003977.4(AIP):c.974G>A (p.Arg325Gln)	rs754619109	0.00011
NM_017841.4(SDHAF2):c.7G>T (p.Val3Leu)	rs149277592	0.00010
NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr)	rs143654307	0.00009
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp)	rs143329068	0.00009
NM_017841.4(SDHAF2):c.476A>C (p.Glu159Ala)	rs140920079	0.00009
NM_001365951.3(KIF1B):c.215G>A (p.Arg72His)	rs761343609	0.00008
NM_003977.4(AIP):c.205A>G (p.Lys69Glu)	rs141223463	0.00008
NM_004304.5(ALK):c.1550A>G (p.His517Arg)	rs367674546	0.00008
NM_024529.5(CDC73):c.876A>G (p.Arg292=)	rs909578765	0.00008
NM_003000.3(SDHB):c.178A>G (p.Thr60Ala)	rs34599281	0.00007
NM_004304.5(ALK):c.3115G>A (p.Val1039Met)	rs200080181	0.00007
NM_004304.5(ALK):c.3160G>A (p.Gly1054Ser)	rs375889530	0.00007
NM_020975.6(RET):c.3026T>C (p.Met1009Thr)	rs375213011	0.00007
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile)	rs368442389	0.00007
NM_003977.4(AIP):c.967C>T (p.Arg323Trp)	rs188965257	0.00006
NM_004168.4(SDHA):c.453C>A (p.Val151=)	rs138917116	0.00006
NM_004304.5(ALK):c.2633-3C>T	rs200341945	0.00006
NM_020975.6(RET):c.1187C>T (p.Ser396Leu)	rs781646869	0.00006
NM_020975.6(RET):c.1597G>A (p.Gly533Ser)	rs75873440	0.00006
NM_020975.6(RET):c.175G>A (p.Ala59Thr)	rs376565365	0.00006
NM_001365951.3(KIF1B):c.2115+6545C>A	rs1299989581	0.00004
NM_001365951.3(KIF1B):c.2611G>A (p.Glu871Lys)	rs763122049	0.00004
NM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys)	rs587780843	0.00004
NM_003000.3(SDHB):c.307A>G (p.Met103Val)	rs140178341	0.00004
NM_003000.3(SDHB):c.530G>A (p.Arg177His)	rs150437793	0.00004
NM_004168.4(SDHA):c.739A>G (p.Ile247Val)	rs571292356	0.00004
NM_017841.4(SDHAF2):c.205C>T (p.Arg69Cys)	rs532255760	0.00004
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg)	rs121908820	0.00004
NM_020975.6(RET):c.1724C>T (p.Thr575Ile)	rs587780808	0.00004
NM_020975.6(RET):c.1891G>A (p.Asp631Asn)	rs377767406	0.00004
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn)	rs377767417	0.00004
NM_020975.6(RET):c.3253A>G (p.Thr1085Ala)	rs756465544	0.00004
NM_001365951.3(KIF1B):c.5203A>G (p.Ser1735Gly)	rs775692548	0.00003
NM_003977.4(AIP):c.562C>T (p.Arg188Trp)	rs577617733	0.00003
NM_004168.4(SDHA):c.512G>A (p.Arg171His)	rs587782076	0.00003
NM_004168.4(SDHA):c.613T>C (p.Tyr205His)	rs61754481	0.00003
NM_004304.5(ALK):c.2194G>A (p.Asp732Asn)	rs768366852	0.00003
NM_020975.6(RET):c.1737C>G (p.Asn579Lys)	rs144455821	0.00003
NM_001365951.3(KIF1B):c.5225G>A (p.Arg1742His)	rs768058092	0.00002
NM_001370259.2(MEN1):c.1012C>G (p.Leu338Val)	rs759337318	0.00002
NM_004168.4(SDHA):c.1136G>A (p.Arg379His)	rs770719847	0.00002
NM_004304.5(ALK):c.1582G>A (p.Ala528Thr)	rs758494304	0.00002
NM_017849.4(TMEM127):c.52C>T (p.Pro18Ser)	rs1452142786	0.00002
NM_020975.6(RET):c.1399G>C (p.Val467Leu)	rs200334340	0.00002
NM_020975.6(RET):c.3233C>T (p.Thr1078Met)	rs762952212	0.00002
NM_001365951.3(KIF1B):c.101C>T (p.Ser34Leu)	rs1269940164	0.00001
NM_001365951.3(KIF1B):c.2115+6476T>C	rs764466176	0.00001
NM_001365951.3(KIF1B):c.2174C>T (p.Ala725Val)	rs773852256	0.00001
NM_001365951.3(KIF1B):c.2839G>T (p.Ala947Ser)	rs748284088	0.00001
NM_001365951.3(KIF1B):c.4601T>G (p.Leu1534Arg)	rs1011009249	0.00001
NM_001365951.3(KIF1B):c.5176C>T (p.Arg1726Cys)	rs754479325	0.00001
NM_003001.5(SDHC):c.436C>A (p.Pro146Thr)	rs541660851	0.00001
NM_003002.4(SDHD):c.331G>A (p.Val111Ile)	rs201869798	0.00001
NM_003977.4(AIP):c.174G>C (p.Lys58Asn)	rs267606539	0.00001
NM_004168.4(SDHA):c.1234G>A (p.Gly412Ser)	rs768055345	0.00001
NM_004168.4(SDHA):c.1717C>G (p.Leu573Val)	rs1445945083	0.00001
NM_004304.5(ALK):c.1193A>G (p.Asn398Ser)	rs754512910	0.00001
NM_004304.5(ALK):c.3271G>A (p.Asp1091Asn)	rs864309584	0.00001
NM_020975.6(RET):c.1493C>T (p.Ala498Val)	rs375677628	0.00001
NM_020975.6(RET):c.1904G>A (p.Arg635His)	rs776164321	0.00001
NM_020975.6(RET):c.1921G>A (p.Ala641Thr)	rs377767411	0.00001
NM_020975.6(RET):c.2237T>C (p.Leu746Pro)	rs755085530	0.00001
NM_020975.6(RET):c.2548G>T (p.Asp850Tyr)	rs772862503	0.00001
NM_020975.6(RET):c.2801+9G>A	rs780912886	0.00001
NM_020975.6(RET):c.3192G>A (p.Met1064Ile)	rs144730090	0.00001
NM_020975.6(RET):c.3206G>C (p.Trp1069Ser)	rs776615468	0.00001
NM_020975.6(RET):c.473G>A (p.Ser158Asn)	rs780067540	0.00001
NM_020975.6(RET):c.548G>A (p.Gly183Asp)	rs144801580	0.00001
NM_000455.5(STK11):c.397G>A (p.Val133Met)	rs567769257
NM_001365951.3(KIF1B):c.2115+6012C>G
NM_001365951.3(KIF1B):c.2115+7012A>G
NM_001365951.3(KIF1B):c.2115+7115C>A
NM_001365951.3(KIF1B):c.2115+7270G>A
NM_001365951.3(KIF1B):c.2115+7306A>G
NM_001365951.3(KIF1B):c.2115+7343G>A
NM_001365951.3(KIF1B):c.3163G>T (p.Gly1055Cys)	rs2102315795
NM_001365951.3(KIF1B):c.3290A>G (p.Lys1097Arg)
NM_001365951.3(KIF1B):c.3985G>T (p.Ala1329Ser)
NM_001365951.3(KIF1B):c.430-15C>G
NM_001365951.3(KIF1B):c.4321A>T (p.Ile1441Phe)
NM_001365951.3(KIF1B):c.5271C>A (p.Asp1757Glu)
NM_001365951.3(KIF1B):c.5300C>G (p.Thr1767Ser)
NM_001365951.3(KIF1B):c.877A>G (p.Ser293Gly)
NM_001370259.2(MEN1):c.16G>T (p.Ala6Ser)	rs966793401
NM_002382.5(MAX):c.172-6166A>G
NM_002382.5(MAX):c.269G>A (p.Arg90Gln)	rs876659562
NM_002382.5(MAX):c.34G>T (p.Asp12Tyr)	rs2063874476
NM_003000.3(SDHB):c.716C>T (p.Ser239Phe)	rs201098090
NM_003977.4(AIP):c.662C>T (p.Pro221Leu)	rs1426023503
NM_003977.4(AIP):c.787+10G>A	rs776322323
NM_003977.4(AIP):c.949G>T (p.Asp317Tyr)	rs145025838
NM_004168.4(SDHA):c.406C>G (p.Gln136Glu)	rs1365359024
NM_004168.4(SDHA):c.996_998delinsCAC (p.Val333Thr)	rs1057517540
NM_004304.5(ALK):c.1517T>C (p.Leu506Pro)	rs762569153
NM_004304.5(ALK):c.164C>A (p.Ala55Glu)	rs1217013970
NM_017849.4(TMEM127):c.526A>G (p.Ser176Gly)	rs1553436876
NM_017849.4(TMEM127):c.598C>A (p.Pro200Thr)	rs200351681
NM_020975.6(RET):c.1267G>T (p.Gly423Trp)
NM_020975.6(RET):c.1295C>T (p.Ala432Val)
NM_020975.6(RET):c.1549C>G (p.Leu517Val)	rs764616982
NM_020975.6(RET):c.2420C>G (p.Ala807Gly)
NM_020975.6(RET):c.2531G>A (p.Arg844Gln)	rs55947360
NM_020975.6(RET):c.2867C>T (p.Pro956Leu)	rs1838269153
NM_020975.6(RET):c.2996C>G (p.Ala999Gly)
NM_020975.6(RET):c.650C>A (p.Ala217Asp)	rs1060500754
NM_024675.4(PALB2):c.2147A>G (p.Asn716Ser)	rs148335539

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