ClinVar Miner

List of variants reported as uncertain significance for amyotrophic lateral sclerosis type 8 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_004738.5(VAPB):c.667C>T (p.Arg223Trp) rs144718603 0.00009
NM_004738.5(VAPB):c.289A>G (p.Thr97Ala) rs752091117 0.00005
NM_004738.5(VAPB):c.502A>G (p.Lys168Glu) rs774643393 0.00004
NM_004738.5(VAPB):c.58+5G>A rs753611165 0.00004
NM_004738.5(VAPB):c.104C>T (p.Pro35Leu) rs1456089445 0.00003
NM_004738.5(VAPB):c.550C>T (p.Arg184Trp) rs750394268 0.00003
NM_004738.5(VAPB):c.199A>G (p.Ile67Val) rs772975721 0.00002
NM_004738.5(VAPB):c.14A>G (p.Glu5Gly) rs748371538 0.00001
NM_004738.5(VAPB):c.233A>G (p.Tyr78Cys) rs1475473253 0.00001
NM_004738.5(VAPB):c.315A>G (p.Val105=) rs757744162 0.00001
NM_004738.5(VAPB):c.332C>T (p.Pro111Leu) rs777316448 0.00001
NM_004738.5(VAPB):c.472A>C (p.Ser158Arg) rs773800478 0.00001
NM_004738.5(VAPB):c.493G>A (p.Glu165Lys) rs772254840 0.00001
NM_004738.5(VAPB):c.535G>A (p.Glu179Lys) rs1989149258 0.00001
NM_004738.5(VAPB):c.622A>G (p.Ile208Val) rs376121617 0.00001
NM_004738.5(VAPB):c.655G>C (p.Gly219Arg) rs1989222522 0.00001
NC_000020.10:g.(?_57009638)_(57019291_?)dup
NC_000020.11:g.(?_58389109)_(58389527_?)del
NM_004738.5(VAPB):c.109G>C (p.Asp37His)
NM_004738.5(VAPB):c.110A>C (p.Asp37Ala) rs755474083
NM_004738.5(VAPB):c.111C>A (p.Asp37Glu) rs781691837
NM_004738.5(VAPB):c.114_118del (p.Asn39fs)
NM_004738.5(VAPB):c.116A>T (p.Asn39Ile)
NM_004738.5(VAPB):c.121T>C (p.Cys41Arg)
NM_004738.5(VAPB):c.122_123del (p.Cys41fs)
NM_004738.5(VAPB):c.13G>A (p.Glu5Lys) rs777026649
NM_004738.5(VAPB):c.149G>T (p.Arg50Leu)
NM_004738.5(VAPB):c.151A>G (p.Arg51Gly)
NM_004738.5(VAPB):c.159del (p.Cys53fs)
NM_004738.5(VAPB):c.166_167delinsGA (p.Pro56Asp)
NM_004738.5(VAPB):c.167C>G (p.Pro56Arg)
NM_004738.5(VAPB):c.16C>G (p.Gln6Glu)
NM_004738.5(VAPB):c.178A>G (p.Ile60Val)
NM_004738.5(VAPB):c.188C>T (p.Ala63Val)
NM_004738.5(VAPB):c.193G>A (p.Ala65Thr)
NM_004738.5(VAPB):c.194C>T (p.Ala65Val) rs1555813002
NM_004738.5(VAPB):c.209C>T (p.Ser70Phe) rs762603323
NM_004738.5(VAPB):c.212-6_212-5insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCCGCGGCTGCGGCCTGGGGAGCGGGTGCGCGTTGGTGGTGCGCGCGAGGGCGAGGGCCAGGGAGAGGGAGAGGGAGAGGGAGCGAAATATTTTCTTT
NM_004738.5(VAPB):c.224C>G (p.Pro75Arg) rs2123088879
NM_004738.5(VAPB):c.229G>A (p.Asp77Asn)
NM_004738.5(VAPB):c.242A>G (p.Asn81Ser)
NM_004738.5(VAPB):c.246G>C (p.Glu82Asp) rs2123088925
NM_004738.5(VAPB):c.256C>G (p.His86Asp)
NM_004738.5(VAPB):c.258C>A (p.His86Gln)
NM_004738.5(VAPB):c.283G>C (p.Ala95Pro)
NM_004738.5(VAPB):c.283G>T (p.Ala95Ser)
NM_004738.5(VAPB):c.301G>C (p.Asp101His)
NM_004738.5(VAPB):c.305T>C (p.Met102Thr)
NM_004738.5(VAPB):c.310G>A (p.Ala104Thr) rs1295445556
NM_004738.5(VAPB):c.31G>C (p.Glu11Gln)
NM_004738.5(VAPB):c.340C>G (p.Leu114Val)
NM_004738.5(VAPB):c.344T>C (p.Met115Thr)
NM_004738.5(VAPB):c.34C>T (p.Pro12Ser) rs1431840351
NM_004738.5(VAPB):c.354A>C (p.Lys118Asn)
NM_004738.5(VAPB):c.35C>T (p.Pro12Leu) rs1987730075
NM_004738.5(VAPB):c.373T>A (p.Leu125Met)
NM_004738.5(VAPB):c.376C>G (p.Pro126Ala)
NM_004738.5(VAPB):c.385A>T (p.Asn129Tyr)
NM_004738.5(VAPB):c.38A>C (p.Gln13Pro) rs760656837
NM_004738.5(VAPB):c.396+6T>C
NM_004738.5(VAPB):c.421A>G (p.Ile141Val) rs1392475929
NM_004738.5(VAPB):c.434C>T (p.Ala145Val)
NM_004738.5(VAPB):c.451C>T (p.Pro151Ser) rs1989146263
NM_004738.5(VAPB):c.454A>G (p.Ile152Val)
NM_004738.5(VAPB):c.455T>C (p.Ile152Thr)
NM_004738.5(VAPB):c.457G>A (p.Val153Met) rs1362788253
NM_004738.5(VAPB):c.460T>A (p.Ser154Thr)
NM_004738.5(VAPB):c.482T>C (p.Leu161Ser) rs1555815825
NM_004738.5(VAPB):c.502_503delinsGT (p.Lys168Val) rs2123099930
NM_004738.5(VAPB):c.512A>T (p.Glu171Val)
NM_004738.5(VAPB):c.518G>A (p.Cys173Tyr) rs1989148708
NM_004738.5(VAPB):c.532G>A (p.Gly178Ser) rs1039112226
NM_004738.5(VAPB):c.542A>G (p.Gln181Arg)
NM_004738.5(VAPB):c.545G>A (p.Arg182Lys) rs1568720020
NM_004738.5(VAPB):c.551G>A (p.Arg184Gln) rs145483046
NM_004738.5(VAPB):c.563A>G (p.Lys188Arg)
NM_004738.5(VAPB):c.563dup (p.Gln189fs)
NM_004738.5(VAPB):c.587T>C (p.Leu196Pro) rs1252954619
NM_004738.5(VAPB):c.589C>T (p.Arg197Trp) rs371134278
NM_004738.5(VAPB):c.59-3C>T
NM_004738.5(VAPB):c.592A>T (p.Met198Leu)
NM_004738.5(VAPB):c.601A>T (p.Thr201Ser) rs757786343
NM_004738.5(VAPB):c.602C>T (p.Thr201Ile)
NM_004738.5(VAPB):c.610A>G (p.Ser204Gly)
NM_004738.5(VAPB):c.635C>A (p.Ala212Asp) rs1989221617
NM_004738.5(VAPB):c.640A>G (p.Thr214Ala)
NM_004738.5(VAPB):c.656G>T (p.Gly219Val) rs786205553
NM_004738.5(VAPB):c.659T>G (p.Leu220Arg) rs1989222839
NM_004738.5(VAPB):c.668G>C (p.Arg223Pro) rs763755820
NM_004738.5(VAPB):c.674T>C (p.Leu225Ser) rs1439925669
NM_004738.5(VAPB):c.677C>A (p.Ala226Asp) rs2123105103
NM_004738.5(VAPB):c.677C>T (p.Ala226Val) rs2123105103
NM_004738.5(VAPB):c.680T>C (p.Leu227Pro)
NM_004738.5(VAPB):c.688T>G (p.Leu230Val) rs1600821730
NM_004738.5(VAPB):c.691T>C (p.Phe231Leu)
NM_004738.5(VAPB):c.700G>A (p.Val234Ile)
NM_004738.5(VAPB):c.704G>T (p.Gly235Val)
NM_004738.5(VAPB):c.709A>G (p.Ile237Val) rs1555816248
NM_004738.5(VAPB):c.70G>A (p.Asp24Asn)
NM_004738.5(VAPB):c.719A>G (p.Lys240Arg)
NM_004738.5(VAPB):c.82A>G (p.Thr28Ala) rs2123058661
NM_004738.5(VAPB):c.85A>G (p.Asn29Asp) rs2123058664
NM_004738.5(VAPB):c.86A>G (p.Asn29Ser) rs1293144080
NM_004738.5(VAPB):c.93G>T (p.Lys31Asn)

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