List of variants reported as likely pathogenic for parathyroid gland disorder by Labcorp Genetics (formerly Invitae), Labcorp

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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: 141

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HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.1203_1278+28del	rs1568929576	0.00008
NM_000383.4(AIRE):c.652+1G>T	rs199612115	0.00004
NM_000383.4(AIRE):c.1278+1G>A	rs1184559866	0.00001
NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys)	rs386833673	0.00001
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp)	rs747941115	0.00001
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys)	rs1231469574	0.00001
NM_000383.4(AIRE):c.275G>A (p.Arg92Gln)	rs1288735234	0.00001
NM_000383.4(AIRE):c.308-1G>C	rs764588340	0.00001
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp)	rs751217000	0.00001
NM_000388.4(CASR):c.2039G>A (p.Arg680His)	rs773146939	0.00001
NM_000388.4(CASR):c.206G>A (p.Arg69His)	rs193922432	0.00001
NM_000388.4(CASR):c.2383C>T (p.Arg795Trp)	rs121909258	0.00001
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser)	rs140022350	0.00001
NM_000388.4(CASR):c.427G>A (p.Gly143Arg)	rs769256610	0.00001
NM_001370259.2(MEN1):c.466G>A (p.Gly156Ser)	rs1085307471	0.00001
NC_000001.10:g.(?_193099294)_(193111206_?)del
NC_000001.10:g.(?_193104511)_(193121584_?)dup
NC_000001.10:g.(?_193172919)_(193205492_?)dup
NC_000001.10:g.(?_193172925)_(193205486_?)dup
NC_000001.11:g.(?_193130168)_(193135595_?)del
NC_000003.12:g.(?_122282103)_(122285191_?)del
NM_000383.4(AIRE):c.1278+1del	rs996389327
NM_000383.4(AIRE):c.1279-2A>G	rs1555873087
NM_000383.4(AIRE):c.132+2T>C
NM_000383.4(AIRE):c.1400+1G>A	rs1469386000
NM_000383.4(AIRE):c.1400+2T>C
NM_000383.4(AIRE):c.1401-1G>A
NM_000383.4(AIRE):c.1503+1G>A
NM_000383.4(AIRE):c.1503+1G>T	rs1156582406
NM_000383.4(AIRE):c.173C>G (p.Ala58Gly)	rs747941115
NM_000383.4(AIRE):c.23G>A (p.Arg8His)
NM_000383.4(AIRE):c.247A>G (p.Lys83Glu)	rs121434255
NM_000383.4(AIRE):c.278T>A (p.Leu93Gln)
NM_000383.4(AIRE):c.290T>C (p.Leu97Pro)	rs2146375951
NM_000383.4(AIRE):c.307+2T>G	rs2146375964
NM_000383.4(AIRE):c.43C>G (p.Arg15Gly)	rs179363875
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys)	rs179363875
NM_000383.4(AIRE):c.46A>G (p.Thr16Ala)
NM_000383.4(AIRE):c.539-2A>G	rs2146377702
NM_000383.4(AIRE):c.54C>G (p.Ile18Met)
NM_000383.4(AIRE):c.652+2T>C	rs1555872272
NM_000383.4(AIRE):c.798+1G>C	rs138489664
NM_000383.4(AIRE):c.798+1G>T	rs138489664
NM_000383.4(AIRE):c.995+1G>A
NM_000383.4(AIRE):c.995+1G>C
NM_000383.4(AIRE):c.996-1G>A
NM_000388.4(CASR):c.1183T>C (p.Cys395Arg)	rs1057517712
NM_000388.4(CASR):c.1377+1G>A
NM_000388.4(CASR):c.1377+1G>T	rs2074639464
NM_000388.4(CASR):c.1378-1G>C	rs2074810403
NM_000388.4(CASR):c.1525G>C (p.Gly509Arg)	rs193922423
NM_000388.4(CASR):c.1608+1G>A
NM_000388.4(CASR):c.1608+2T>C
NM_000388.4(CASR):c.1609-2A>G	rs761084315
NM_000388.4(CASR):c.1652G>A (p.Arg551Lys)	rs1060502861
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr)	rs1576875819
NM_000388.4(CASR):c.1670G>A (p.Gly557Glu)	rs1576875835
NM_000388.4(CASR):c.1744T>A (p.Cys582Ser)	rs2074920676
NM_000388.4(CASR):c.1838G>A (p.Gly613Glu)
NM_000388.4(CASR):c.185+1G>A
NM_000388.4(CASR):c.196C>T (p.Arg66Cys)	rs121909266
NM_000388.4(CASR):c.197G>A (p.Arg66His)	rs1276839362
NM_000388.4(CASR):c.2203C>A (p.Gln735Lys)	rs1553769052
NM_000388.4(CASR):c.2299G>A (p.Glu767Lys)	rs2074935748
NM_000388.4(CASR):c.2449G>A (p.Val817Ile)	rs1057518933
NM_000388.4(CASR):c.2641T>C (p.Phe881Leu)	rs104893704
NM_000388.4(CASR):c.413C>T (p.Thr138Met)	rs121909263
NM_000388.4(CASR):c.492+2T>C
NM_000388.4(CASR):c.493-2A>C	rs1576857818
NM_000388.4(CASR):c.493-2A>G	rs1576857818
NM_000388.4(CASR):c.659G>A (p.Arg220Gln)	rs1202110240
NM_001370259.2(MEN1):c.1009G>C (p.Ala337Pro)	rs2071312
NM_001370259.2(MEN1):c.1024G>C (p.Ala342Pro)	rs776561706
NM_001370259.2(MEN1):c.1049A>T (p.Asp350Val)
NM_001370259.2(MEN1):c.113C>A (p.Ser38Tyr)
NM_001370259.2(MEN1):c.1185+1G>A	rs1941661315
NM_001370259.2(MEN1):c.1231G>C (p.Ala411Pro)
NM_001370259.2(MEN1):c.1232C>T (p.Ala411Val)
NM_001370259.2(MEN1):c.1256G>T (p.Gly419Val)	rs1941615895
NM_001370259.2(MEN1):c.1267T>C (p.Trp423Arg)	rs1555164270
NM_001370259.2(MEN1):c.1328C>A (p.Ser443Tyr)	rs1060499981
NM_001370259.2(MEN1):c.1340T>C (p.Phe447Ser)	rs1941604532
NM_001370259.2(MEN1):c.1350G>C (p.Gln450His)	rs1592636161
NM_001370259.2(MEN1):c.1354C>G (p.Arg452Gly)
NM_001370259.2(MEN1):c.1355G>C (p.Arg452Pro)	rs775922507
NM_001370259.2(MEN1):c.1364T>A (p.Val455Glu)	rs878855189
NM_001370259.2(MEN1):c.137A>C (p.His46Pro)	rs2136192730
NM_001370259.2(MEN1):c.137A>G (p.His46Arg)
NM_001370259.2(MEN1):c.1471G>T (p.Glu491Ter)
NM_001370259.2(MEN1):c.154C>G (p.Arg52Gly)	rs1555166664
NM_001370259.2(MEN1):c.1663A>G (p.Ser555Gly)
NM_001370259.2(MEN1):c.1673T>C (p.Met558Thr)
NM_001370259.2(MEN1):c.1732C>T (p.Gln578Ter)
NM_001370259.2(MEN1):c.1739del (p.Thr580fs)	rs864622617
NM_001370259.2(MEN1):c.1756C>T (p.Gln586Ter)
NM_001370259.2(MEN1):c.35C>G (p.Pro12Arg)
NM_001370259.2(MEN1):c.416A>C (p.His139Pro)
NM_001370259.2(MEN1):c.416A>G (p.His139Arg)	rs1114167515
NM_001370259.2(MEN1):c.417C>A (p.His139Gln)	rs386134254
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val)	rs1114167543
NM_001370259.2(MEN1):c.445+1G>A
NM_001370259.2(MEN1):c.445+1G>T
NM_001370259.2(MEN1):c.458A>C (p.Asp153Ala)	rs1565648789
NM_001370259.2(MEN1):c.466G>T (p.Gly156Cys)	rs1085307471
NM_001370259.2(MEN1):c.491C>T (p.Ala164Val)	rs1565648547
NM_001370259.2(MEN1):c.494G>A (p.Cys165Tyr)	rs1057521111
NM_001370259.2(MEN1):c.64C>A (p.Leu22Met)
NM_001370259.2(MEN1):c.654+3A>G	rs1064793168
NM_001370259.2(MEN1):c.655-15_658del	rs1592649598
NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg)	rs104894256
NM_001370259.2(MEN1):c.721T>C (p.Cys241Arg)	rs1592649108
NM_001370259.2(MEN1):c.725C>T (p.Ala242Val)	rs2136141530
NM_001370259.2(MEN1):c.763G>A (p.Glu255Lys)	rs104894268
NM_001370259.2(MEN1):c.763G>C (p.Glu255Gln)	rs104894268
NM_001370259.2(MEN1):c.766C>T (p.Leu256Phe)	rs878855198
NM_001370259.2(MEN1):c.767T>C (p.Leu256Pro)
NM_001370259.2(MEN1):c.783+2del
NM_001370259.2(MEN1):c.784-1G>A	rs1555165377
NM_001370259.2(MEN1):c.784-1G>C	rs1555165377
NM_001370259.2(MEN1):c.784-2A>T
NM_001370259.2(MEN1):c.818T>G (p.Leu273Arg)
NM_001370259.2(MEN1):c.825-1_825del	rs2136130282
NM_001370259.2(MEN1):c.830C>A (p.Pro277His)	rs1060499973
NM_001370259.2(MEN1):c.958C>A (p.Pro320Thr)
NM_001370259.2(MEN1):c.959C>T (p.Pro320Leu)	rs1114167469
NM_001370259.2(MEN1):c.970_984del (p.Leu324_His328del)	rs1941723156
NM_001370259.2(MEN1):c.97G>C (p.Asp33His)
NM_001370259.2(MEN1):c.97G>T (p.Asp33Tyr)
NM_001370259.2(MEN1):c.983A>C (p.His328Pro)
NM_024529.5(CDC73):c.1030+2T>C
NM_024529.5(CDC73):c.1067-2_1069del	rs2102038469
NM_024529.5(CDC73):c.1155-3A>G	rs1060500014
NM_024529.5(CDC73):c.1316+1del	rs2102058495
NM_024529.5(CDC73):c.132-2A>C
NM_024529.5(CDC73):c.188T>C (p.Leu63Pro)	rs1060500015
NM_024529.5(CDC73):c.191T>C (p.Leu64Pro)	rs121434264
NM_024529.5(CDC73):c.237_237+1insA
NM_024529.5(CDC73):c.238-8G>A	rs2103117753
NM_024529.5(CDC73):c.307+1G>A
NM_024529.5(CDC73):c.513-1G>A
NM_024529.5(CDC73):c.729+1G>T	rs1060500012

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