List of variants reported as uncertain significance for Charcot-Marie-Tooth disease axonal type 2L 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: 103

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HGVS	dbSNP	gnomAD frequency
NM_014365.3(HSPB8):c.114C>A (p.Asp38Glu)	rs141871482	0.00024
NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg)	rs146900850	0.00009
NM_014365.3(HSPB8):c.512T>C (p.Val171Ala)	rs878854979	0.00009
NM_014365.3(HSPB8):c.391G>A (p.Glu131Lys)	rs754993844	0.00008
NM_014365.3(HSPB8):c.229G>A (p.Ala77Thr)	rs752044307	0.00004
NM_014365.3(HSPB8):c.523T>G (p.Ser175Ala)	rs1000728639	0.00004
NM_014365.3(HSPB8):c.311G>A (p.Ser104Asn)	rs1036182864	0.00003
NM_014365.3(HSPB8):c.319C>T (p.Pro107Ser)	rs146000958	0.00003
NM_014365.3(HSPB8):c.164G>A (p.Arg55His)	rs752911264	0.00002
NM_014365.3(HSPB8):c.65G>A (p.Arg22Gln)	rs747381453	0.00002
NM_014365.3(HSPB8):c.10G>A (p.Gly4Ser)	rs762887808	0.00001
NM_014365.3(HSPB8):c.116C>T (p.Pro39Leu)	rs771827550	0.00001
NM_014365.3(HSPB8):c.140C>G (p.Ser47Cys)	rs1183371665	0.00001
NM_014365.3(HSPB8):c.17T>C (p.Met6Thr)	rs530083542	0.00001
NM_014365.3(HSPB8):c.200G>T (p.Gly67Val)	rs771852827	0.00001
NM_014365.3(HSPB8):c.208C>T (p.Pro70Ser)	rs924785682	0.00001
NM_014365.3(HSPB8):c.211C>T (p.Arg71Trp)	rs977617023	0.00001
NM_014365.3(HSPB8):c.212G>A (p.Arg71Gln)	rs1312255584	0.00001
NM_014365.3(HSPB8):c.250G>A (p.Glu84Lys)	rs757293016	0.00001
NM_014365.3(HSPB8):c.280G>A (p.Glu94Lys)	rs769296712	0.00001
NM_014365.3(HSPB8):c.397G>A (p.Gly133Ser)	rs1179250162	0.00001
NM_014365.3(HSPB8):c.44G>A (p.Arg15His)	rs752348447	0.00001
NM_014365.3(HSPB8):c.479C>T (p.Pro160Leu)	rs1403551142	0.00001
NM_014365.3(HSPB8):c.47T>G (p.Leu16Arg)	rs1256697965	0.00001
NM_014365.3(HSPB8):c.49C>T (p.Arg17Cys)	rs200120006	0.00001
NM_014365.3(HSPB8):c.52C>T (p.Arg18Ter)	rs759005659	0.00001
NM_014365.3(HSPB8):c.536A>G (p.Glu179Gly)	rs863224767	0.00001
NM_014365.3(HSPB8):c.584G>A (p.Cys195Tyr)	rs778223243	0.00001
NC_000012.11:g.(?_119617118)_(119624913_?)dup
NC_000012.11:g.(?_119624810)_(119624913_?)del
NC_000012.11:g.(?_119631484)_(119631663_?)dup
NC_000012.11:g.(?_119631494)_(119631673_?)dup
NM_014365.3(HSPB8):c.11G>A (p.Gly4Asp)	rs1172676336
NM_014365.3(HSPB8):c.121C>T (p.Pro41Ser)	rs920906527
NM_014365.3(HSPB8):c.127G>A (p.Asp43Asn)	rs1954622196
NM_014365.3(HSPB8):c.134C>G (p.Thr45Arg)	rs1249375553
NM_014365.3(HSPB8):c.137C>A (p.Ala46Asp)	rs1954622275
NM_014365.3(HSPB8):c.142T>C (p.Trp48Arg)	rs2136079909
NM_014365.3(HSPB8):c.143G>A (p.Trp48Ter)
NM_014365.3(HSPB8):c.148G>A (p.Asp50Asn)
NM_014365.3(HSPB8):c.149A>T (p.Asp50Val)	rs374254847
NM_014365.3(HSPB8):c.150C>A (p.Asp50Glu)	rs2136079920
NM_014365.3(HSPB8):c.166C>A (p.Leu56Ile)
NM_014365.3(HSPB8):c.184_185del (p.Gly62fs)	rs1954622635
NM_014365.3(HSPB8):c.185G>A (p.Gly62Asp)
NM_014365.3(HSPB8):c.188C>T (p.Thr63Ile)	rs771054805
NM_014365.3(HSPB8):c.194G>A (p.Arg65Lys)	rs1265247622
NM_014365.3(HSPB8):c.201C>T (p.Gly67=)	rs1565927038
NM_014365.3(HSPB8):c.204G>A (p.Met68Ile)
NM_014365.3(HSPB8):c.215G>A (p.Gly72Asp)
NM_014365.3(HSPB8):c.218C>T (p.Pro73Leu)
NM_014365.3(HSPB8):c.239G>C (p.Gly80Ala)
NM_014365.3(HSPB8):c.241G>A (p.Val81Met)	rs767880226
NM_014365.3(HSPB8):c.266C>A (p.Pro89Gln)	rs35909818
NM_014365.3(HSPB8):c.266C>T (p.Pro89Leu)	rs35909818
NM_014365.3(HSPB8):c.266del (p.Pro89fs)
NM_014365.3(HSPB8):c.266dup (p.Pro90fs)	rs773017653
NM_014365.3(HSPB8):c.26C>T (p.Ser9Phe)
NM_014365.3(HSPB8):c.27_28delinsGG (p.Cys10Gly)
NM_014365.3(HSPB8):c.281A>G (p.Glu94Gly)
NM_014365.3(HSPB8):c.317A>G (p.Lys106Arg)
NM_014365.3(HSPB8):c.32A>C (p.His11Pro)
NM_014365.3(HSPB8):c.334del (p.Met111_Val112insTer)	rs1954624384
NM_014365.3(HSPB8):c.364T>C (p.Ser122Pro)
NM_014365.3(HSPB8):c.365C>A (p.Ser122Tyr)	rs1427416227
NM_014365.3(HSPB8):c.374A>G (p.His125Arg)	rs138733926
NM_014365.3(HSPB8):c.388C>G (p.Gln130Glu)
NM_014365.3(HSPB8):c.421A>C (p.Lys141Gln)	rs104894351
NM_014365.3(HSPB8):c.430C>G (p.Gln144Glu)
NM_014365.3(HSPB8):c.432-10T>C
NM_014365.3(HSPB8):c.437C>G (p.Pro146Arg)	rs1565930539
NM_014365.3(HSPB8):c.439G>A (p.Ala147Thr)
NM_014365.3(HSPB8):c.43C>T (p.Arg15Cys)	rs1954619848
NM_014365.3(HSPB8):c.451C>T (p.Pro151Ser)	rs2136086280
NM_014365.3(HSPB8):c.461T>C (p.Val154Ala)	rs1954726459
NM_014365.3(HSPB8):c.472C>T (p.Leu158Phe)	rs144662422
NM_014365.3(HSPB8):c.502G>A (p.Ala168Thr)	rs1592932884
NM_014365.3(HSPB8):c.506C>T (p.Pro169Leu)	rs1592932892
NM_014365.3(HSPB8):c.508C>A (p.Gln170Lys)
NM_014365.3(HSPB8):c.50G>A (p.Arg17His)	rs146997263
NM_014365.3(HSPB8):c.50G>C (p.Arg17Pro)
NM_014365.3(HSPB8):c.510G>C (p.Gln170His)
NM_014365.3(HSPB8):c.511G>A (p.Val171Ile)
NM_014365.3(HSPB8):c.515del (p.Pro172fs)	rs1954727159
NM_014365.3(HSPB8):c.518C>T (p.Pro173Leu)	rs757849883
NM_014365.3(HSPB8):c.523T>C (p.Ser175Pro)
NM_014365.3(HSPB8):c.526A>G (p.Thr176Ala)	rs1592932914
NM_014365.3(HSPB8):c.540C>G (p.Ser180Arg)
NM_014365.3(HSPB8):c.541A>T (p.Ser181Cys)	rs760688825
NM_014365.3(HSPB8):c.556C>T (p.Leu186Phe)	rs1954727649
NM_014365.3(HSPB8):c.559C>T (p.Pro187Ser)	rs1829801528
NM_014365.3(HSPB8):c.563dup (p.Asp189fs)	rs2136086393
NM_014365.3(HSPB8):c.566A>G (p.Asp189Gly)
NM_014365.3(HSPB8):c.570C>A (p.Ser190Arg)	rs551013013
NM_014365.3(HSPB8):c.580A>T (p.Thr194Ser)	rs771995241
NM_014365.3(HSPB8):c.581C>A (p.Thr194Asn)
NM_014365.3(HSPB8):c.58C>T (p.Pro20Ser)	rs2136079863
NM_014365.3(HSPB8):c.85C>A (p.Arg29Ser)	rs748320300
NM_014365.3(HSPB8):c.85C>T (p.Arg29Cys)	rs748320300
NM_014365.3(HSPB8):c.86G>A (p.Arg29His)
NM_014365.3(HSPB8):c.95A>C (p.Asp32Ala)
NM_014365.3(HSPB8):c.95A>G (p.Asp32Gly)
NM_014365.3(HSPB8):c.9C>G (p.Asp3Glu)	rs952834680

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