List of variants reported as pathogenic for cerebellar disorder by Genetic Services Laboratory, University of Chicago

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: 33

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter)	rs771578775	0.00006
NM_018075.5(ANO10):c.337+1G>A	rs765592794	0.00003
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)	rs119468004	0.00002
NM_003383.5(VLDLR):c.83-1G>A	rs770269674	0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)	rs780247476	0.00001
NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter)	rs797046025	0.00001
NM_001080522.2(CC2D2A):c.3289delG	rs386833751
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)	rs797045223
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)	rs764719093
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs)	rs797045437
NM_001378969.1(KCND3):c.1034G>T (p.Gly345Val)	rs797045634
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs)	rs587777145
NM_001382391.1(CSPP1):c.2829-9_2968+11del	rs1554614893
NM_001386140.1(MTTP):c.708_709del (p.His236fs)	rs1553926818
NM_004977.3(KCNC3):c.1259G>A (p.Arg420His)	rs104894699
NM_005861.4(STUB1):c.646dup (p.Ser216fs)	rs1555475283
NM_014363.6(SACS):c.13527dup (p.Glu4510fs)	rs797045936
NM_014363.6(SACS):c.1919_1920del (p.His640fs)	rs797045937
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs)	rs797045067
NM_018075.5(ANO10):c.132dup (p.Asp45fs)	rs540331226
NM_018075.5(ANO10):c.1669-2A>T	rs797045240
NM_018075.5(ANO10):c.306C>A (p.Tyr102Ter)	rs1210764379
NM_018075.5(ANO10):c.96del (p.Glu33fs)	rs758937084
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His)	rs755221106
NM_020247.5(COQ8A):c.1334_1335del (p.Thr445fs)	rs797045217
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del)	rs387906299
NM_182961.4(SYNE1):c.1021G>T (p.Glu341Ter)	rs1203553546
NM_182961.4(SYNE1):c.16421C>A (p.Ser5474Ter)	rs797046024
NM_182961.4(SYNE1):c.22408G>T (p.Glu7470Ter)	rs1554573328
NM_182961.4(SYNE1):c.23001dup (p.Leu7668fs)	rs1554553667
NM_182961.4(SYNE1):c.482_483del (p.Ser160_Ser161insTer)	rs1554829141
NM_182961.4(SYNE1):c.5161G>T (p.Glu1721Ter)	rs1554676394
NM_182961.4(SYNE1):c.6877del (p.Glu2293fs)	rs797046026

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.