ClinVar Miner

List of variants in gene MFSD8 reported as pathogenic for neuronal ceroid lipofuscinosis

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_001371596.2(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971 0.00003
NM_001371596.2(MFSD8):c.754+2T>A rs587778809 0.00003
NM_001371596.2(MFSD8):c.864-1G>A rs571950296 0.00002
NM_001371596.2(MFSD8):c.103C>T (p.Arg35Ter) rs749315686 0.00001
NM_001371596.2(MFSD8):c.1141G>T (p.Glu381Ter) rs724159970 0.00001
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235 0.00001
NM_001371596.2(MFSD8):c.1394G>A (p.Arg465Gln) rs1275962600 0.00001
NM_001371596.2(MFSD8):c.217dup (p.Thr73fs) rs796052752 0.00001
NM_001371596.2(MFSD8):c.233G>A (p.Trp78Ter) rs1578912362 0.00001
NM_001371596.2(MFSD8):c.416G>A (p.Arg139His) rs749704755 0.00001
NM_001371596.2(MFSD8):c.77T>G (p.Leu26Ter) rs760049336 0.00001
NC_000004.11:g.(?_128841775)_(128878757_?)del
NC_000004.11:g.(?_128841775)_(128886298_?)del
NC_000004.11:g.(?_128841785)_(128843128_?)del
NC_000004.11:g.(?_128841785)_(128851992_?)del
NC_000004.11:g.(?_128841785)_(128871022_?)del
NC_000004.11:g.(?_128841785)_(128886288_?)del
NC_000004.11:g.(?_128860988)_(128863333_?)del
NC_000004.11:g.(?_128864897)_(128886298_?)del
NC_000004.11:g.(?_128870939)_(128871022_?)del
NC_000004.11:g.(?_128870939)_(128886288_?)del
NC_000004.11:g.(?_128878636)_(128886288_?)del
NC_000004.11:g.(?_128878646)_(128878757_?)del
NC_000004.11:g.(?_128878646)_(128886298_?)del
NC_000004.11:g.(?_128886207)_(128886288_?)del
NC_000004.11:g.(?_128886217)_(128886288_?)del
NC_000004.12:g.(?_127920610)_(127957612_?)del
NC_000004.12:g.(?_127930663)_(127933113_?)del
NC_000004.12:g.(?_127930663)_(127965153_?)del
NC_000004.12:g.(?_127932965)_(127933113_?)del
NC_000004.12:g.(?_127965052)_(127965153_?)del
NC_000004.12:g.(?_127965062)_(127965143_?)del
NM_001371596.2(MFSD8):c.1033_1038delinsCC (p.Ile345fs)
NM_001371596.2(MFSD8):c.1036del (p.Val346fs) rs1439582451
NM_001371596.2(MFSD8):c.1064T>G (p.Leu355Ter) rs2148841110
NM_001371596.2(MFSD8):c.1071G>A (p.Trp357Ter)
NM_001371596.2(MFSD8):c.1086del (p.Ile364fs) rs1460276679
NM_001371596.2(MFSD8):c.1090del (p.Ile364fs) rs2148840973
NM_001371596.2(MFSD8):c.1102G>C (p.Asp368His) rs727502800
NM_001371596.2(MFSD8):c.1113del (p.Asn371fs) rs2148840426
NM_001371596.2(MFSD8):c.1119_1122del (p.Ile374fs)
NM_001371596.2(MFSD8):c.1120del (p.Ile374fs) rs2148840396
NM_001371596.2(MFSD8):c.1124del (p.Pro375fs) rs1578794927
NM_001371596.2(MFSD8):c.1158_1167del (p.Trp387fs) rs2148840216
NM_001371596.2(MFSD8):c.1213C>T (p.Gln405Ter) rs778875017
NM_001371596.2(MFSD8):c.1214_1215dup (p.Ala406fs)
NM_001371596.2(MFSD8):c.1217_1218dup (p.Trp407fs) rs2148839960
NM_001371596.2(MFSD8):c.1229dup (p.Tyr410Ter) rs2148839909
NM_001371596.2(MFSD8):c.1235del (p.Pro412fs)
NM_001371596.2(MFSD8):c.1286G>A (p.Gly429Asp) rs118203976
NM_001371596.2(MFSD8):c.1316_1322del (p.Thr439fs) rs2148839459
NM_001371596.2(MFSD8):c.1325C>A (p.Ser442Ter) rs953995815
NM_001371596.2(MFSD8):c.1337del (p.Gly446fs)
NM_001371596.2(MFSD8):c.133dup (p.Thr45fs)
NM_001371596.2(MFSD8):c.1350+1G>A
NM_001371596.2(MFSD8):c.1350+2T>C rs1736332381
NM_001371596.2(MFSD8):c.1354_1369del (p.Gly451_Val452insTer) rs2148837382
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_001371596.2(MFSD8):c.136_137del (p.Met46fs) rs2148972564
NM_001371596.2(MFSD8):c.1412del (p.Phe471fs)
NM_001371596.2(MFSD8):c.1420C>T (p.Gln474Ter) rs370663969
NM_001371596.2(MFSD8):c.1437G>A (p.Trp479Ter) rs2148837137
NM_001371596.2(MFSD8):c.1439del (p.Gly480fs)
NM_001371596.2(MFSD8):c.198+2T>C rs2148943607
NM_001371596.2(MFSD8):c.215del (p.Asp72fs)
NM_001371596.2(MFSD8):c.259C>T (p.Gln87Ter) rs1300341137
NM_001371596.2(MFSD8):c.27_33delinsCC (p.Glu9fs) rs1744829646
NM_001371596.2(MFSD8):c.291G>A (p.Trp97Ter)
NM_001371596.2(MFSD8):c.291del (p.Trp97fs)
NM_001371596.2(MFSD8):c.356_357insA (p.Cys119Ter)
NM_001371596.2(MFSD8):c.362A>G (p.Tyr121Cys) rs118203978
NM_001371596.2(MFSD8):c.362_363del (p.Tyr121fs) rs2148922004
NM_001371596.2(MFSD8):c.468_469delinsCC (p.Ala157Pro) rs1740291234
NM_001371596.2(MFSD8):c.531_537del (p.Gly179fs) rs1271198944
NM_001371596.2(MFSD8):c.590del (p.Gly197fs) rs776253867
NM_001371596.2(MFSD8):c.593_594del (p.Val198fs) rs1407346059
NM_001371596.2(MFSD8):c.599G>A (p.Trp200Ter) rs558274487
NM_001371596.2(MFSD8):c.600G>A (p.Trp200Ter)
NM_001371596.2(MFSD8):c.616C>T (p.Gln206Ter) rs1209722075
NM_001371596.2(MFSD8):c.63-1G>A rs1314967038
NM_001371596.2(MFSD8):c.64G>T (p.Glu22Ter) rs1560776422
NM_001371596.2(MFSD8):c.65_66del (p.Glu22fs) rs2148972962
NM_001371596.2(MFSD8):c.690dup (p.Ile231fs) rs2148907184
NM_001371596.2(MFSD8):c.699-1G>A rs1739594685
NM_001371596.2(MFSD8):c.719C>G (p.Ser240Ter)
NM_001371596.2(MFSD8):c.727C>T (p.Gln243Ter)
NM_001371596.2(MFSD8):c.738dup (p.Ile247fs)
NM_001371596.2(MFSD8):c.742_746del (p.Ile247_Asn248insTer)
NM_001371596.2(MFSD8):c.753dup (p.Ala252fs)
NM_001371596.2(MFSD8):c.754+1G>A rs868732642
NM_001371596.2(MFSD8):c.754+1G>T rs868732642
NM_001371596.2(MFSD8):c.772C>T (p.Gln258Ter)
NM_001371596.2(MFSD8):c.823_824del (p.Leu275fs)
NM_001371596.2(MFSD8):c.831dup (p.Val278fs) rs775699005
NM_001371596.2(MFSD8):c.842_845del (p.Phe281fs)
NM_001371596.2(MFSD8):c.863+1G>A rs200319160
NM_001371596.2(MFSD8):c.863+1G>C
NM_001371596.2(MFSD8):c.863+1G>T rs200319160
NM_001371596.2(MFSD8):c.863+3_863+4insT rs727502801
NM_001371596.2(MFSD8):c.863+995_998+1480del
NM_001371596.2(MFSD8):c.878del (p.Pro292_Leu293insTer) rs2148873794
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_001371596.2(MFSD8):c.894T>G (p.Tyr298Ter) rs118203977
NM_001371596.2(MFSD8):c.900G>A (p.Trp300Ter)
NM_001371596.2(MFSD8):c.918del (p.Leu307fs)
NM_001371596.2(MFSD8):c.929G>A (p.Gly310Asp) rs118203975
NM_001371596.2(MFSD8):c.932_935dup (p.Leu313fs) rs1737980148
NM_001371596.2(MFSD8):c.939del (p.Ala314fs)
NM_001371596.2(MFSD8):c.974T>G (p.Leu325Ter)
NM_001371596.2(MFSD8):c.979del (p.Val327fs)

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