List of variants reported as likely pathogenic for cerebellar disorder 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: 138

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HGVS	dbSNP	gnomAD frequency
NM_001382391.1(CSPP1):c.2128+1G>A	rs199791452	0.00009
NM_001044385.3(TMEM237):c.42+1G>A	rs1378726802	0.00005
NM_001077418.3(TMEM231):c.438+5G>C	rs1472951348	0.00004
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu)	rs761879076	0.00004
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe)	rs376555896	0.00003
NM_001329943.3(KIAA0586):c.411-1486G>A	rs982449380	0.00003
NM_182961.4(SYNE1):c.17682+1G>A	rs1064796579	0.00003
NM_182961.4(SYNE1):c.24129+2T>C	rs544985182	0.00003
NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly)	rs774091057	0.00002
NM_001329943.3(KIAA0586):c.1253G>A (p.Arg418Lys)	rs772739103	0.00002
NM_000784.4(CYP27A1):c.1017+1G>A	rs1943742261	0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)	rs560108684	0.00001
NM_001044385.3(TMEM237):c.136+1G>T	rs778823927	0.00001
NM_001329943.3(KIAA0586):c.1885-2A>G	rs1431898844	0.00001
NM_001329943.3(KIAA0586):c.2944+4A>C	rs372841738	0.00001
NM_001329943.3(KIAA0586):c.3781+2T>C	rs1331480187	0.00001
NM_001329943.3(KIAA0586):c.4324-2A>G	rs763815640	0.00001
NM_001382391.1(CSPP1):c.1497-2A>C	rs766633448	0.00001
NM_015046.7(SETX):c.7447G>A (p.Gly2483Arg)	rs183776349	0.00001
NM_016464.5(TMEM138):c.128+5G>A	rs917404097	0.00001
NM_018718.3(CEP41):c.278-1G>A	rs1796956272	0.00001
NM_182961.4(SYNE1):c.6723+1G>C	rs779302145	0.00001
NC_000002.11:g.(?_219679083)_(219679753_?)del
NC_000002.11:g.(?_219679093)_(219679763_?)del
NC_000006.11:g.(?_152466612)_(152643033_?)dup
NC_000006.11:g.(?_152652198)_(152658654_?)del
NC_000006.11:g.(?_152716631)_(152765733_?)dup
NC_000008.10:g.(?_68018120)_(68071392_?)dup
NC_000008.10:g.(?_68024187)_(68044335_?)dup
NC_000010.10:g.(?_104352329)_(104377195_?)dup
NC_000014.8:g.(?_58896061)_(58899195_?)dup
NC_000014.8:g.(?_58910652)_(58917484_?)dup
NC_000014.8:g.(?_58949211)_(58949450_?)dup
NC_000014.8:g.(?_58951496)_(58953792_?)del
NC_000014.9:g.(?_58448320)_(58450766_?)dup
NC_000016.10:g.(?_78278583)_(78432772_?)del
NC_000016.10:g.(?_78432468)_(78432772_?)del
NC_000016.9:g.(?_75575228)_(75579413_?)dup
NC_000016.9:g.(?_78148926)_(78166880_?)del
NC_000016.9:g.(?_78458747)_(78466669_?)dup
NM_000784.4(CYP27A1):c.1018-1G>C	rs1575206658
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)	rs587778781
NM_000784.4(CYP27A1):c.1421G>C (p.Arg474Pro)
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His)	rs199638075
NM_000784.4(CYP27A1):c.1436G>C (p.Arg479Pro)
NM_000784.4(CYP27A1):c.1436G>T (p.Arg479Leu)	rs199638075
NM_000784.4(CYP27A1):c.1459C>T (p.Gln487Ter)	rs1943770060
NM_000784.4(CYP27A1):c.410G>C (p.Arg137Pro)
NM_000784.4(CYP27A1):c.440_446+2del	rs2105978950
NM_000784.4(CYP27A1):c.447-1G>A	rs2105979879
NM_000784.4(CYP27A1):c.646+1G>A
NM_000784.4(CYP27A1):c.804G>T (p.Trp268Cys)	rs1943736101
NM_001044385.3(TMEM237):c.396-2A>G
NM_001044385.3(TMEM237):c.676A>G (p.Arg226Gly)	rs2105899169
NM_001077418.3(TMEM231):c.140-30A>C	rs2080806593
NM_001077418.3(TMEM231):c.439-33_538del
NM_001329943.3(KIAA0586):c.-29A>C	rs752709426
NM_001329943.3(KIAA0586):c.1129+1G>A	rs2140707466
NM_001329943.3(KIAA0586):c.1130-2A>G
NM_001329943.3(KIAA0586):c.1253+1G>A
NM_001329943.3(KIAA0586):c.1884+1G>T
NM_001329943.3(KIAA0586):c.200-2A>G
NM_001329943.3(KIAA0586):c.2254+1G>T
NM_001329943.3(KIAA0586):c.2634+1G>T
NM_001329943.3(KIAA0586):c.271-1G>A
NM_001329943.3(KIAA0586):c.2825+1G>A	rs2141025675
NM_001329943.3(KIAA0586):c.2945-1G>C
NM_001329943.3(KIAA0586):c.3142_3144+5del	rs771240219
NM_001329943.3(KIAA0586):c.3144+1G>A
NM_001329943.3(KIAA0586):c.3144+2T>C
NM_001329943.3(KIAA0586):c.341-2A>G
NM_001329943.3(KIAA0586):c.3859-3_3865del
NM_001329943.3(KIAA0586):c.3991-1G>A
NM_001329943.3(KIAA0586):c.4495+1_4495+2insAAG
NM_001329943.3(KIAA0586):c.807+1G>T
NM_001382391.1(CSPP1):c.-10-1G>T
NM_001382391.1(CSPP1):c.-54_-51del
NM_001382391.1(CSPP1):c.100-2A>C
NM_001382391.1(CSPP1):c.1022+1G>C
NM_001382391.1(CSPP1):c.1022+1G>T	rs2129547115
NM_001382391.1(CSPP1):c.1188-2A>G
NM_001382391.1(CSPP1):c.1828-1G>C
NM_001382391.1(CSPP1):c.2129-2A>G	rs2129559034
NM_001382391.1(CSPP1):c.3110-1G>A	rs1064795687
NM_001382391.1(CSPP1):c.3221-1G>A
NM_001382391.1(CSPP1):c.3330+1G>C	rs1045070965
NM_001382391.1(CSPP1):c.3330+2T>C
NM_001382391.1(CSPP1):c.3331-2A>G	rs1836992042
NM_001382391.1(CSPP1):c.483+2T>A
NM_015046.7(SETX):c.6208+2dup
NM_015046.7(SETX):c.6842+1G>T	rs1038776365
NM_015046.7(SETX):c.6843-3_6843-1del	rs1186690391
NM_015046.7(SETX):c.7100+2T>C
NM_016169.4(SUFU):c.1023-2A>T	rs1060501105
NM_016169.4(SUFU):c.1157+1G>A
NM_016169.4(SUFU):c.1365+1G>A	rs2063794106
NM_016169.4(SUFU):c.182+1G>A	rs2135598885
NM_016169.4(SUFU):c.182+3A>C	rs1589970228
NM_016169.4(SUFU):c.183-1G>A	rs1554841447
NM_016169.4(SUFU):c.183-1G>T
NM_016169.4(SUFU):c.183-2A>C	rs2135619894
NM_016169.4(SUFU):c.183-4_247del
NM_016169.4(SUFU):c.317+1G>A	rs2135621012
NM_016169.4(SUFU):c.318-1G>C	rs2135742927
NM_016169.4(SUFU):c.597+1G>C	rs1590062006
NM_016169.4(SUFU):c.683+1G>A	rs2135870923
NM_016169.4(SUFU):c.684-2A>G	rs1590063305
NM_016169.4(SUFU):c.911-1G>T
NM_016169.4(SUFU):c.911-2A>C
NM_016373.4(WWOX):c.107+1G>A	rs1300924648
NM_016373.4(WWOX):c.605+1_605+2delinsAA	rs2151934194
NM_016373.4(WWOX):c.605+2T>C
NM_016373.4(WWOX):c.605_605+3del	rs767732033
NM_016373.4(WWOX):c.791+1G>T	rs1164465811
NM_018718.3(CEP41):c.757+2T>A
NM_018718.3(CEP41):c.98-2A>G
NM_022464.5(SIL1):c.353+1G>T
NM_022464.5(SIL1):c.643_645+21del
NM_022464.5(SIL1):c.645+2T>C
NM_182961.4(SYNE1):c.10145+1G>A	rs1563391747
NM_182961.4(SYNE1):c.10608+1G>C	rs1590998146
NM_182961.4(SYNE1):c.10862T>C (p.Val3621Ala)
NM_182961.4(SYNE1):c.12079-2A>T	rs2154019221
NM_182961.4(SYNE1):c.12351+2T>C	rs2154000325
NM_182961.4(SYNE1):c.15837_15917+69del	rs2153937126
NM_182961.4(SYNE1):c.16237-2A>G	rs2153903647
NM_182961.4(SYNE1):c.16896+1G>T
NM_182961.4(SYNE1):c.18208-1G>A	rs2153725036
NM_182961.4(SYNE1):c.19260+1G>C
NM_182961.4(SYNE1):c.19260+1G>T
NM_182961.4(SYNE1):c.19260+2T>C	rs1588855714
NM_182961.4(SYNE1):c.22590-1G>A	rs2153409815
NM_182961.4(SYNE1):c.22824+2T>A
NM_182961.4(SYNE1):c.23790+1G>A	rs2153025020
NM_182961.4(SYNE1):c.2394+1G>A
NM_182961.4(SYNE1):c.2568+1G>A	rs2154261629
NM_182961.4(SYNE1):c.67+2T>A	rs762743107
NM_182961.4(SYNE1):c.888+2T>C

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