List of variants reported as pathogenic for cerebellar disorder by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 109

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HGVS	dbSNP	gnomAD frequency
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)	rs534542684	0.00347
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)	rs555421894	0.00053
NM_014053.4(FLVCR1):c.1092+5G>A	rs556788423	0.00032
NM_001077418.3(TMEM231):c.139+47C>A	rs200063331	0.00029
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)	rs137853108	0.00026
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)	rs201502401	0.00020
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)	rs777668842	0.00012
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)	rs397515379	0.00010
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)	rs267606916	0.00010
NM_000784.4(CYP27A1):c.1184+1G>A	rs587778777	0.00009
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala)	rs1442638461	0.00009
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)	rs267607119	0.00009
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu)	rs587776906	0.00007
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)	rs199469707	0.00006
NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter)	rs530569572	0.00006
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)	rs386834202	0.00006
NM_001077418.3(TMEM231):c.664+4A>G	rs760426025	0.00005
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)	rs121917851	0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)	rs587778818	0.00004
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn)	rs200799769	0.00004
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His)	rs199422220	0.00004
NM_001386140.1(MTTP):c.1867+1G>A	rs764189338	0.00004
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter)	rs146064714	0.00004
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)	rs121918198	0.00004
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)	rs386834182	0.00004
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)	rs755459875	0.00003
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg)	rs267606821	0.00003
NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys)	rs747025617	0.00003
NM_000370.3(TTPA):c.552G>A (p.Thr184=)	rs181109321	0.00002
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)	rs35916840	0.00002
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter)	rs863225138	0.00002
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp)	rs367543061	0.00002
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)	rs281865118	0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)	rs750732115	0.00002
NM_000370.3(TTPA):c.205-1G>C	rs886040963	0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)	rs121908099	0.00001
NM_000784.4(CYP27A1):c.446+1G>A	rs587778797	0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)	rs201346271	0.00001
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter)	rs1270654737	0.00001
NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter)	rs863225142	0.00001
NM_001329943.3(KIAA0586):c.2050C>T (p.Arg684Ter)	rs749475936	0.00001
NM_001386140.1(MTTP):c.1392del (p.Glu465fs)	rs1725827570	0.00001
NM_001386140.1(MTTP):c.1783C>T (p.Arg595Ter)	rs199422219	0.00001
NM_001386140.1(MTTP):c.1867+5G>A	rs1429774833	0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)	rs780247476	0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)	rs281865120	0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)	rs1160357920	0.00001
NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter)	rs755824618	0.00001
NM_014363.6(SACS):c.562G>A (p.Gly188Arg)	rs780184251	0.00001
NM_014363.6(SACS):c.814C>T (p.Arg272Cys)	rs374128662	0.00001
NM_014363.6(SACS):c.8844del (p.Ile2949fs)	rs281865117	0.00001
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter)	rs1169623576	0.00001
NM_015631.6(TCTN3):c.940G>T (p.Gly314Ter)	rs793888508	0.00001
NM_016464.5(TMEM138):c.128+5G>A	rs917404097	0.00001
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln)	rs1588830568	0.00001
NM_030578.4(B9D2):c.301A>C (p.Ser101Arg)	rs1487082103	0.00001
NM_153704.6(TMEM67):c.2439G>A (p.Ala813=)	rs201791586	0.00001
NC_000004.11:g.(93511438_94006145)_(94032105_94128554)del
NM_000370.3(TTPA):c.487del (p.Trp163fs)	rs397515378
NM_000370.3(TTPA):c.744del (p.Glu249fs)	rs397515377
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs)	rs1575206357
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)	rs121908096
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)	rs72551322
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs)	rs1017750255
NM_001134831.2(AHI1):c.1983del (p.Trp662fs)	rs1459452503
NM_001134831.2(AHI1):c.910dup (p.Thr304fs)	rs753874898
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)	rs201108965
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)	rs11230683
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys)	rs2124927471
NM_001378969.1(KCND3):c.677TCT[1] (p.Phe227del)	rs397515475
NM_001382391.1(CSPP1):c.1624del (p.Ser542fs)
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs)	rs587777139
NM_001384732.1(CPLANE1):c.1809_1811delinsCCAT (p.Tyr607fs)
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs)	rs777686211
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs)	rs1561601398
NM_001384732.1(CPLANE1):c.3176del (p.Pro1059fs)
NM_001384732.1(CPLANE1):c.8425del (p.Thr2809fs)	rs775263897
NM_001384732.1(CPLANE1):c.9097C>T (p.Gln3033Ter)
NM_001386140.1(MTTP):c.2212del (p.Ser738fs)	rs755681036
NM_001386140.1(MTTP):c.2342+1G>A
NM_001386140.1(MTTP):c.419dup (p.Asn140fs)	rs762901763
NM_006946.4(SPTBN2):c.1596_1634del (p.Glu532_Met544del)	rs1554985851
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)	rs565203731
NM_014363.6(SACS):c.12106A>T (p.Arg4036Ter)	rs2137561134
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)	rs752059006
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter)	rs1057517311
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter)	rs1485209013
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg)	rs137853017
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs)	rs773754134
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)	rs766711286
NM_014363.6(SACS):c.6837dup (p.Glu2280fs)	rs748765057
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)	rs786204750
NM_014363.6(SACS):c.832C>T (p.Gln278Ter)	rs1555254439
NM_014363.6(SACS):c.8793del (p.Lys2931fs)	rs767871841
NM_014363.6(SACS):c.9311del (p.Thr3104fs)
NM_014363.6(SACS):c.961C>T (p.Arg321Ter)	rs1175545518
NM_014704.4(CEP104):c.1232del (p.Gly411fs)
NM_015272.5(RPGRIP1L):c.2303C>A (p.Ser768Ter)	rs542206983
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)	rs121918199
NM_015631.6(TCTN3):c.615del (p.Ser206fs)
NM_018075.5(ANO10):c.132dup (p.Asp45fs)	rs540331226
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)	rs121918130
NM_019892.6(INPP5E):c.473del (p.Gly158fs)	rs779450345
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs)	rs764847439
NM_022464.5(SIL1):c.212dup (p.His71fs)
NM_024809.5(TCTN2):c.1550dup (p.His517fs)
NM_024809.5(TCTN2):c.1806dup (p.Thr603fs)
NM_153704.6(TMEM67):c.2429_2433del (p.Lys810fs)
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs)	rs80356538

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