List of variants reported as uncertain significance for combined pituitary hormone deficiencies, genetic form by Invitae

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

Total variants: 175

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HGVS	dbSNP	gnomAD frequency
NM_003865.3(HESX1):c.385G>A (p.Val129Ile)	rs143057250	0.00064
NM_003865.3(HESX1):c.460-3T>C	rs112703580	0.00021
NM_003865.3(HESX1):c.220G>A (p.Val74Met)	rs148422263	0.00014
NM_000061.3(BTK):c.390C>T (p.Asn130=)	rs150917517	0.00012
NM_003865.3(HESX1):c.326G>A (p.Arg109Gln)	rs768165720	0.00011
NM_003865.3(HESX1):c.541A>G (p.Thr181Ala)	rs28936704	0.00008
NM_000061.3(BTK):c.720A>C (p.Glu240Asp)	rs141590686	0.00006
NM_000061.3(BTK):c.894+3A>G	rs781949555	0.00004
NM_003865.3(HESX1):c.350A>C (p.Gln117Pro)	rs765353265	0.00004
NM_003865.3(HESX1):c.475C>T (p.Arg159Trp)	rs770886420	0.00004
NM_000061.3(BTK):c.1358C>T (p.Ser453Phe)	rs782457670	0.00003
NM_003865.3(HESX1):c.479G>A (p.Arg160His)	rs766234350	0.00003
NM_000061.3(BTK):c.482A>C (p.Asn161Thr)	rs371085740	0.00002
NM_000061.3(BTK):c.100G>A (p.Val34Met)	rs141488935	0.00001
NM_000061.3(BTK):c.1328T>C (p.Ile443Thr)	rs782133950	0.00001
NM_000061.3(BTK):c.1697C>T (p.Pro566Leu)	rs1057521814	0.00001
NM_000061.3(BTK):c.367C>T (p.Arg123Trp)	rs1926975244	0.00001
NM_000061.3(BTK):c.577G>C (p.Glu193Gln)	rs1555978783	0.00001
NM_000061.3(BTK):c.580G>A (p.Glu194Lys)	rs1555978779	0.00001
NM_000061.3(BTK):c.736G>C (p.Glu246Gln)	rs1468544899	0.00001
NM_000061.3(BTK):c.7G>A (p.Ala3Thr)	rs368549990	0.00001
NM_003865.3(HESX1):c.11G>A (p.Ser4Asn)	rs1332400265	0.00001
NM_003865.3(HESX1):c.124C>T (p.His42Tyr)	rs761470587	0.00001
NM_003865.3(HESX1):c.137C>T (p.Ala46Val)	rs765587086	0.00001
NM_003865.3(HESX1):c.18G>C (p.Gln6His)	rs121909173	0.00001
NM_003865.3(HESX1):c.313T>G (p.Trp105Gly)	rs754137696	0.00001
NM_003865.3(HESX1):c.34G>A (p.Gly12Arg)	rs375305919	0.00001
NM_003865.3(HESX1):c.509C>T (p.Ser170Leu)	rs28936703	0.00001
NC_000003.11:g.(?_57130421)_(57303715_?)dup
NC_000023.10:g.(?_100604873)_(100630272_?)dup
NC_000023.10:g.(?_100617141)_(100662891_?)dup
NC_000023.10:g.(?_99551275)_(101097764_?)dup
NC_000023.11:g.(?_101353174)_(101358716_?)dup
NM_000061.3(BTK):c.-31+1G>A	rs1927600989
NM_000061.3(BTK):c.-31+6T>C
NM_000061.3(BTK):c.100G>C (p.Val34Leu)
NM_000061.3(BTK):c.1018C>T (p.Pro340Ser)
NM_000061.3(BTK):c.1039G>C (p.Ala347Pro)	rs1603006298
NM_000061.3(BTK):c.1064T>C (p.Ile355Thr)	rs1057517709
NM_000061.3(BTK):c.1069G>A (p.Glu357Lys)	rs1555978130
NM_000061.3(BTK):c.1082A>G (p.Tyr361Cys)	rs28935478
NM_000061.3(BTK):c.1093A>T (p.Asn365Tyr)	rs2147429790
NM_000061.3(BTK):c.1132T>C (p.Ser378Pro)
NM_000061.3(BTK):c.1144A>G (p.Lys382Glu)
NM_000061.3(BTK):c.1207A>C (p.Thr403Pro)
NM_000061.3(BTK):c.1229C>T (p.Thr410Ile)	rs1603005179
NM_000061.3(BTK):c.1239T>G (p.Phe413Leu)
NM_000061.3(BTK):c.1272G>T (p.Gln424His)
NM_000061.3(BTK):c.1279_1280delinsAA (p.Val427Lys)
NM_000061.3(BTK):c.1282G>C (p.Ala428Pro)
NM_000061.3(BTK):c.1349+2dup	rs2147428153
NM_000061.3(BTK):c.1349+6T>G
NM_000061.3(BTK):c.1387G>A (p.Val463Ile)
NM_000061.3(BTK):c.1391G>T (p.Cys464Phe)	rs2147427522
NM_000061.3(BTK):c.1418T>A (p.Ile473Asn)	rs1926475663
NM_000061.3(BTK):c.1431G>A (p.Met477Ile)
NM_000061.3(BTK):c.1441T>A (p.Cys481Ser)	rs1057519826
NM_000061.3(BTK):c.1442G>C (p.Cys481Ser)	rs1057519825
NM_000061.3(BTK):c.1445T>C (p.Leu482Pro)	rs1926474231
NM_000061.3(BTK):c.1468C>T (p.Arg490Cys)
NM_000061.3(BTK):c.1469G>A (p.Arg490His)	rs1926473502
NM_000061.3(BTK):c.1475G>C (p.Arg492Pro)	rs782338603
NM_000061.3(BTK):c.1487A>C (p.Gln496Pro)	rs2147427327
NM_000061.3(BTK):c.1492C>G (p.Leu498Val)	rs1555977807
NM_000061.3(BTK):c.1516T>C (p.Cys506Arg)	rs128621200
NM_000061.3(BTK):c.1535T>G (p.Leu512Arg)
NM_000061.3(BTK):c.1553T>G (p.Leu518Arg)
NM_000061.3(BTK):c.1556A>C (p.His519Pro)
NM_000061.3(BTK):c.1559G>T (p.Arg520Leu)
NM_000061.3(BTK):c.1571C>T (p.Ala524Val)
NM_000061.3(BTK):c.1578C>A (p.Asn526Lys)	rs1569291237
NM_000061.3(BTK):c.1591G>T (p.Asp531Tyr)
NM_000061.3(BTK):c.1606A>G (p.Lys536Glu)	rs1603003195
NM_000061.3(BTK):c.1610T>C (p.Val537Ala)
NM_000061.3(BTK):c.1631+6T>G	rs2147425735
NM_000061.3(BTK):c.1631G>A (p.Arg544Lys)
NM_000061.3(BTK):c.1632-11_1632-6del
NM_000061.3(BTK):c.1632-3C>A	rs1926384033
NM_000061.3(BTK):c.1633T>C (p.Tyr545His)
NM_000061.3(BTK):c.163T>C (p.Ser55Pro)	rs1603019607
NM_000061.3(BTK):c.1664T>C (p.Val555Ala)
NM_000061.3(BTK):c.1720T>C (p.Phe574Leu)	rs1926379592
NM_000061.3(BTK):c.1730A>C (p.Lys577Thr)	rs2147424863
NM_000061.3(BTK):c.1743G>T (p.Trp581Cys)	rs1603002341
NM_000061.3(BTK):c.1751G>A (p.Gly584Glu)	rs1926361058
NM_000061.3(BTK):c.1759A>C (p.Met587Leu)	rs1603001822
NM_000061.3(BTK):c.1761G>A (p.Met587Ile)
NM_000061.3(BTK):c.1762T>C (p.Trp588Arg)
NM_000061.3(BTK):c.1774T>C (p.Ser592Pro)	rs1603001783
NM_000061.3(BTK):c.1775C>A (p.Ser592Tyr)	rs1926358194
NM_000061.3(BTK):c.1778T>C (p.Leu593Pro)	rs2147424197
NM_000061.3(BTK):c.1789C>T (p.Pro597Ser)	rs868967798
NM_000061.3(BTK):c.1819G>A (p.Ala607Thr)
NM_000061.3(BTK):c.1832C>A (p.Ala611Asp)
NM_000061.3(BTK):c.1843C>T (p.Arg615Cys)	rs1603001680
NM_000061.3(BTK):c.1844G>T (p.Arg615Leu)	rs1901797830
NM_000061.3(BTK):c.1864G>C (p.Ala622Pro)	rs2147424035
NM_000061.3(BTK):c.1868C>T (p.Ser623Leu)	rs1926354581
NM_000061.3(BTK):c.1882A>T (p.Thr628Ser)
NM_000061.3(BTK):c.188G>C (p.Cys63Ser)
NM_000061.3(BTK):c.1909-1G>A
NM_000061.3(BTK):c.1922G>C (p.Arg641Pro)
NM_000061.3(BTK):c.1976_*10del (p.Ser659_Ter660delinsXaa)
NM_000061.3(BTK):c.216T>G (p.Asn72Lys)	rs1555980789
NM_000061.3(BTK):c.239C>T (p.Pro80Leu)
NM_000061.3(BTK):c.240+2dup
NM_000061.3(BTK):c.240G>A (p.Pro80=)	rs1569296295
NM_000061.3(BTK):c.26T>A (p.Ile9Asn)
NM_000061.3(BTK):c.282C>G (p.Ile94Met)	rs2147444915
NM_000061.3(BTK):c.302C>T (p.Pro101Leu)
NM_000061.3(BTK):c.308A>C (p.Gln103Pro)
NM_000061.3(BTK):c.319G>T (p.Asp107Tyr)	rs1926977202
NM_000061.3(BTK):c.337G>A (p.Val113Ile)	rs2147443453
NM_000061.3(BTK):c.344C>T (p.Ser115Phe)
NM_000061.3(BTK):c.355G>A (p.Glu119Lys)
NM_000061.3(BTK):c.391G>A (p.Val131Ile)
NM_000061.3(BTK):c.41C>T (p.Ser14Phe)	rs1057520682
NM_000061.3(BTK):c.493T>C (p.Cys165Arg)	rs1603010344
NM_000061.3(BTK):c.518G>A (p.Gly173Glu)
NM_000061.3(BTK):c.52A>G (p.Lys18Glu)
NM_000061.3(BTK):c.532G>A (p.Gly178Arg)
NM_000061.3(BTK):c.586C>A (p.Gln196Lys)
NM_000061.3(BTK):c.679C>A (p.Pro227Thr)
NM_000061.3(BTK):c.758G>A (p.Arg253Lys)
NM_000061.3(BTK):c.77A>G (p.Lys26Arg)	rs2147448262
NM_000061.3(BTK):c.839+4_839+7del
NM_000061.3(BTK):c.839+5G>T
NM_000061.3(BTK):c.839+5_839+6insAGAAATGTATGAGTAAGGCTGACTGTCTTTTCGGACTCAGCCCGCCTGCACCCAGGTGAAATAAACAGCCATGTTGCTCACACAAAGCCTGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
NM_000061.3(BTK):c.840-3C>G
NM_000061.3(BTK):c.857T>C (p.Met286Thr)
NM_000061.3(BTK):c.863G>C (p.Arg288Pro)
NM_000061.3(BTK):c.867T>A (p.Ser289Arg)	rs1926588297
NM_000061.3(BTK):c.872C>A (p.Ala291Asp)
NM_000061.3(BTK):c.892G>A (p.Glu298Lys)
NM_000061.3(BTK):c.894+2dup	rs2147430924
NM_000061.3(BTK):c.905G>T (p.Gly302Val)
NM_000061.3(BTK):c.907G>A (p.Gly303Ser)
NM_000061.3(BTK):c.908G>A (p.Gly303Asp)
NM_000061.3(BTK):c.911T>G (p.Phe304Cys)
NM_000061.3(BTK):c.917T>C (p.Val306Ala)
NM_000061.3(BTK):c.934G>C (p.Ala312Pro)	rs1926563146
NM_000061.3(BTK):c.941A>G (p.Lys314Arg)	rs1386621585
NM_000061.3(BTK):c.978C>A (p.Asp326Glu)
NM_000061.3(BTK):c.980C>T (p.Pro327Leu)	rs1926556967
NM_000061.3(BTK):c.997C>T (p.His333Tyr)
NM_000061.3(BTK):c.998A>C (p.His333Pro)
NM_000061.3(BTK):c.998A>G (p.His333Arg)	rs193922133
NM_003865.3(HESX1):c.131C>T (p.Pro44Leu)
NM_003865.3(HESX1):c.157+5G>A
NM_003865.3(HESX1):c.158G>A (p.Gly53Glu)	rs756899311
NM_003865.3(HESX1):c.163G>A (p.Asp55Asn)	rs2060466182
NM_003865.3(HESX1):c.163G>T (p.Asp55Tyr)	rs2060466182
NM_003865.3(HESX1):c.200G>A (p.Ser67Asn)	rs141863326
NM_003865.3(HESX1):c.200G>C (p.Ser67Thr)	rs141863326
NM_003865.3(HESX1):c.218G>A (p.Ser73Asn)
NM_003865.3(HESX1):c.219C>T (p.Ser73=)
NM_003865.3(HESX1):c.224T>G (p.Val75Gly)
NM_003865.3(HESX1):c.25G>A (p.Ala9Thr)
NM_003865.3(HESX1):c.288A>C (p.Arg96Ser)
NM_003865.3(HESX1):c.305A>T (p.Glu102Val)
NM_003865.3(HESX1):c.309G>C (p.Leu103Phe)
NM_003865.3(HESX1):c.316T>A (p.Tyr106Asn)
NM_003865.3(HESX1):c.316T>G (p.Tyr106Asp)
NM_003865.3(HESX1):c.332C>T (p.Pro111Leu)
NM_003865.3(HESX1):c.335G>C (p.Arg112Thr)
NM_003865.3(HESX1):c.35G>A (p.Gly12Glu)
NM_003865.3(HESX1):c.373_374delinsGG (p.Asn125Gly)	rs2107564081
NM_003865.3(HESX1):c.3G>A (p.Met1Ile)	rs2107566038
NM_003865.3(HESX1):c.400G>C (p.Gly134Arg)	rs2107564014
NM_003865.3(HESX1):c.405C>G (p.Ile135Met)	rs190201411
NM_003865.3(HESX1):c.431A>C (p.Lys144Thr)
NM_003865.3(HESX1):c.439C>A (p.Leu147Ile)
NM_003865.3(HESX1):c.47C>T (p.Pro16Leu)
NM_003865.3(HESX1):c.50C>T (p.Ser17Leu)
NM_003865.3(HESX1):c.68T>C (p.Ile23Thr)

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