List of variants studied for cerebral lipidosis with dementia by Myriad Genetics, Inc.

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		ClinVar version:

Total variants: 133

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HGVS	dbSNP	gnomAD frequency
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	rs76763715	0.00191
NM_000391.4(TPP1):c.509-1G>C	rs56144125	0.00053
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)	rs387906309	0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)	rs28942073	0.00046
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	rs121908096	0.00031
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)	rs119455955	0.00025
NM_000520.6(HEXA):c.1073+1G>A	rs76173977	0.00021
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)	rs1064651	0.00020
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)	rs139003032	0.00016
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)	rs121907954	0.00015
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)	rs587778778	0.00011
NM_000784.4(CYP27A1):c.1184+1G>A	rs587778777	0.00009
NM_000157.4(GBA1):c.115+1G>A	rs104886460	0.00006
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)	rs80356771	0.00006
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)	rs75822236	0.00006
NM_000157.4(GBA1):c.84dup (p.Leu29fs)	rs387906315	0.00006
NM_000520.6(HEXA):c.806-7G>A	rs770932296	0.00006
NM_000520.6(HEXA):c.460-1G>T	rs764343937	0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His)	rs28941770	0.00005
NM_000784.4(CYP27A1):c.845-1G>A	rs397515353	0.00004
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile)	rs386833744	0.00004
NM_000784.4(CYP27A1):c.1263+1G>A	rs397515355	0.00003
NM_000520.6(HEXA):c.1421+1G>C	rs147324677	0.00002
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)	rs765893479	0.00002
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)	rs80356769	0.00001
NM_000157.4(GBA1):c.1505G>A (p.Arg502His)	rs80356772	0.00001
NM_000391.4(TPP1):c.851G>T (p.Gly284Val)	rs119455957	0.00001
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter)	rs786204585	0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)	rs121907972	0.00001
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)	rs566580738	0.00001
NM_000521.4(HEXB):c.1287T>G (p.Tyr429Ter)	rs1749739842	0.00001
NM_000521.4(HEXB):c.639T>G (p.Tyr213Ter)	rs1749130074	0.00001
NM_001042432.2(CLN3):c.266G>A (p.Arg89Gln)	rs766287694	0.00001
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys)	rs587779411	0.00001
GRCh37/hg19 15q23(chr15:72662932-72670877)
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	rs421016
NM_000391.4(TPP1):c.1020_1021del (p.Asn341fs)
NM_000391.4(TPP1):c.1104dup (p.Ser369fs)
NM_000391.4(TPP1):c.1176_1177del (p.Phe393fs)
NM_000391.4(TPP1):c.1199_1200del (p.Thr400fs)
NM_000391.4(TPP1):c.1213_1214delinsT (p.Asp405fs)
NM_000391.4(TPP1):c.1248_1250delinsT (p.Pro417fs)
NM_000391.4(TPP1):c.147del (p.Thr50fs)
NM_000391.4(TPP1):c.238dup (p.Leu80fs)
NM_000391.4(TPP1):c.262_270delinsAT (p.Leu88fs)
NM_000391.4(TPP1):c.636_638delinsA (p.Ser213fs)
NM_000391.4(TPP1):c.638C>A (p.Ser213Ter)
NM_000391.4(TPP1):c.760C>T (p.Gln254Ter)
NM_000391.4(TPP1):c.767C>A (p.Ser256Ter)
NM_000391.4(TPP1):c.876C>A (p.Tyr292Ter)
NM_000391.4(TPP1):c.904G>T (p.Glu302Ter)
NM_000520.6(HEXA):c.1024A>T (p.Lys342Ter)	rs1322698222
NM_000520.6(HEXA):c.103del (p.Gln35fs)
NM_000520.6(HEXA):c.1098T>A (p.Tyr366Ter)	rs979690054
NM_000520.6(HEXA):c.1114del (p.Val372fs)	rs2140321846
NM_000520.6(HEXA):c.1118G>A (p.Trp373Ter)	rs2088635583
NM_000520.6(HEXA):c.1119G>A (p.Trp373Ter)	rs2088635505
NM_000520.6(HEXA):c.1120C>T (p.Gln374Ter)	rs1415609256
NM_000520.6(HEXA):c.1123G>T (p.Glu375Ter)	rs2088635332
NM_000520.6(HEXA):c.1204_1206del (p.Lys402del)	rs1467732394
NM_000520.6(HEXA):c.1260G>A (p.Trp420Ter)
NM_000520.6(HEXA):c.1294A>T (p.Lys432Ter)
NM_000520.6(HEXA):c.1342C>T (p.Gln448Ter)
NM_000520.6(HEXA):c.207_208del (p.Asp70fs)
NM_000520.6(HEXA):c.284T>A (p.Leu95Ter)	rs2088784856
NM_000520.6(HEXA):c.288del (p.Val97fs)
NM_000520.6(HEXA):c.314del (p.Asn105fs)
NM_000520.6(HEXA):c.370C>T (p.Gln124Ter)	rs2088766427
NM_000520.6(HEXA):c.400_401del (p.Gly134fs)
NM_000520.6(HEXA):c.421_422insAGGAGCC (p.Thr141fs)
NM_000520.6(HEXA):c.451G>T (p.Glu151Ter)	rs2088732981
NM_000520.6(HEXA):c.609G>A (p.Trp203Ter)
NM_000520.6(HEXA):c.718A>T (p.Lys240Ter)
NM_000520.6(HEXA):c.735C>A (p.Tyr245Ter)
NM_000520.6(HEXA):c.766G>T (p.Glu256Ter)
NM_000520.6(HEXA):c.805+1G>A	rs121907980
NM_000520.6(HEXA):c.814G>T (p.Gly272Ter)
NM_000520.6(HEXA):c.822_823del (p.Thr275fs)
NM_000520.6(HEXA):c.844G>T (p.Glu282Ter)
NM_000520.6(HEXA):c.958G>T (p.Gly320Ter)	rs2088660599
NM_000521.4(HEXB):c.1024G>T (p.Glu342Ter)	rs1749651571
NM_000521.4(HEXB):c.1039C>T (p.Gln347Ter)	rs1749652247
NM_000521.4(HEXB):c.1069G>T (p.Glu357Ter)	rs1354786875
NM_000521.4(HEXB):c.1082G>A (p.Trp361Ter)	rs1361998528
NM_000521.4(HEXB):c.1138_1140delinsA (p.Phe380fs)
NM_000521.4(HEXB):c.1219G>T (p.Glu407Ter)
NM_000521.4(HEXB):c.1240A>T (p.Lys414Ter)
NM_000521.4(HEXB):c.1287T>A (p.Tyr429Ter)	rs1749739842
NM_000521.4(HEXB):c.1434dup (p.Gln479fs)
NM_000521.4(HEXB):c.277del (p.Leu93fs)
NM_000521.4(HEXB):c.295_296delinsT (p.Arg99fs)
NM_000521.4(HEXB):c.295_297delinsT (p.Arg99fs)
NM_000521.4(HEXB):c.332G>A (p.Trp111Ter)	rs1748943719
NM_000521.4(HEXB):c.341_342del (p.Glu114fs)
NM_000521.4(HEXB):c.452T>A (p.Leu151Ter)	rs2112135868
NM_000521.4(HEXB):c.529C>T (p.Gln177Ter)	rs1749120310
NM_000521.4(HEXB):c.617T>A (p.Leu206Ter)
NM_000521.4(HEXB):c.626del (p.Thr209fs)
NM_000521.4(HEXB):c.738T>A (p.Tyr246Ter)
NM_000521.4(HEXB):c.739C>T (p.Gln247Ter)	rs1749359626
NM_000521.4(HEXB):c.785T>A (p.Leu262Ter)
NM_000521.4(HEXB):c.860del (p.Pro287fs)
NM_000521.4(HEXB):c.971dup (p.Thr325fs)
NM_000784.4(CYP27A1):c.1061del (p.Asp354fs)
NM_000784.4(CYP27A1):c.1126C>T (p.Gln376Ter)
NM_000784.4(CYP27A1):c.264C>A (p.Tyr88Ter)	rs1943689487
NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter)	rs1943689766
NM_000784.4(CYP27A1):c.307C>T (p.Gln103Ter)	rs1943689944
NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter)	rs1943690848
NM_000784.4(CYP27A1):c.395del (p.Leu132fs)
NM_000784.4(CYP27A1):c.426_430del (p.Thr143fs)
NM_000784.4(CYP27A1):c.494T>A (p.Leu165Ter)
NM_000784.4(CYP27A1):c.608C>A (p.Ser203Ter)	rs186812403
NM_000784.4(CYP27A1):c.657C>A (p.Tyr219Ter)	rs1414259537
NM_000784.4(CYP27A1):c.685_688del (p.Leu229fs)
NM_000784.4(CYP27A1):c.703G>T (p.Glu235Ter)
NM_000784.4(CYP27A1):c.724A>T (p.Arg242Ter)
NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter)	rs1943736070
NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter)	rs1943741125
NM_001042432.2(CLN3):c.1038G>A (p.Trp346Ter)
NM_001042432.2(CLN3):c.276C>A (p.Cys92Ter)
NM_001042432.2(CLN3):c.528C>A (p.Tyr176Ter)
NM_001042432.2(CLN3):c.610C>T (p.Gln204Ter)
NM_001042432.2(CLN3):c.849del (p.Trp283fs)
NM_001042432.2(CLN3):c.852C>G (p.Tyr284Ter)
NM_001042432.2(CLN3):c.962G>A (p.Trp321Ter)	rs2046112247
NM_017882.3(CLN6):c.218G>A (p.Trp73Ter)	rs2093214695
NM_017882.3(CLN6):c.322del (p.Leu108fs)
NM_017882.3(CLN6):c.377_378delinsG (p.Ile126fs)
NM_017882.3(CLN6):c.385dup (p.Val129fs)
NM_017882.3(CLN6):c.427C>T (p.Gln143Ter)	rs2093205953
NM_017882.3(CLN6):c.499G>T (p.Glu167Ter)	rs2093204342
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)	rs768422260

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