"Inherited Neuropathy Consortium"[submitter] AND "PMP22"[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 637831	NM_000304.4(PMP22):c.475C>T (p.Arg159Cys)	PMP22 (R159C)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 637387	NM_000304.4(PMP22):c.469C>G (p.Arg157Gly)	PMP22 (R157G)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637425	NM_000304.4(PMP22):c.468G>A (p.Leu156=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 245805	NM_000304.4(PMP22):c.449G>A (p.Gly150Asp)	PMP22 (G150D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 234605	NM_000304.4(PMP22):c.447C>A (p.Ser149Arg)	PMP22 (S149R)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 637840	NM_000304.4(PMP22):c.443_444del (p.Leu148fs)	PMP22 (L148fs)	Microsatellite (frameshift variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637381	NM_000304.4(PMP22):c.440T>G (p.Leu147Arg)	PMP22 (L147R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637424	NM_000304.4(PMP22):c.433dup (p.Leu145fs)	PMP22 (L145fs)	Duplication (frameshift variant +1 more)	Hereditary liability to pressure palsies	GUncertain significance
Select item 637823	NM_000304.4(PMP22):c.419G>A (p.Trp140Ter)	PMP22 (W140*)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 637842	NM_000304.4(PMP22):c.418T>A (p.Trp140Arg)	PMP22 (W140R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GLikely pathogenic
Select item 637835	NM_000304.4(PMP22):c.392C>G (p.Ser131Cys)	PMP22 (S131C)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type IA +2 more	GConflicting classifications of pathogenicity
Select item 637713	NM_000304.4(PMP22):c.372G>A (p.Trp124Ter)	PMP22 (W124*)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 637489	NM_000304.4(PMP22):c.371G>A (p.Trp124Ter)	PMP22 (W124*)	Single nucleotide variant (nonsense +1 more)	Hereditary liability to pressure palsies	GUncertain significance
Select item 637833	NM_000304.4(PMP22):c.367del (p.Glu123fs)	PMP22 (E123fs)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637818	NM_000304.4(PMP22):c.364_365del (p.Pro122fs)	PMP22 (P122fs)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 8441	NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del)	PMP22	Deletion (inframe_deletion +1 more)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
Select item 8431	NM_000304.4(PMP22):c.353C>T (p.Thr118Met)	PMP22 (T118M)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 637841	NM_000304.4(PMP22):c.346_347insCC (p.Ile116fs)	PMP22 (I116fs)	Insertion (frameshift variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637370	NM_000304.4(PMP22):c.336T>G (p.Ser112Arg)	PMP22 (S112R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 576212	NM_000304.4(PMP22):c.332T>C (p.Met111Thr)	PMP22 (M111T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 514130	NM_000304.4(PMP22):c.327C>T (p.Cys109=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 637939	NM_000304.4(PMP22):c.325T>C (p.Cys109Arg)	PMP22 (C109R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637376	NM_000304.4(PMP22):c.320G>T (p.Gly107Val)	PMP22 (G107V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 637825	NM_000304.4(PMP22):c.320-1G>C	PMP22	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637382	NM_000304.4(PMP22):c.319+1G>A	PMP22	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 637826	NM_000304.4(PMP22):c.318del (p.Gly107fs)	PMP22 (E107fs +1 more)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 637385	NM_000304.4(PMP22):c.314T>G (p.Leu105Arg)	PMP22 (L105R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637388	NM_000304.4(PMP22):c.312del (p.Ala106fs)	PMP22 (A106fs)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 618333	NM_000304.4(PMP22):c.307C>T (p.Gln103Ter)	PMP22 (Q103*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 637375	NM_000304.4(PMP22):c.299G>A (p.Gly100Glu)	PMP22 (G100E)	Single nucleotide variant (missense variant +1 more)	Dejerine-Sottas disease	GUncertain significance
Select item 637820	NM_000304.4(PMP22):c.298G>A (p.Gly100Arg)	PMP22 (G100R)	Single nucleotide variant (missense variant +1 more)	Dejerine-Sottas disease	GPathogenic
Select item 637379	NM_000304.4(PMP22):c.297del (p.Gly100fs)	PMP22 (G100fs)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637846	NM_000304.4(PMP22):c.289del (p.Tyr97fs)	PMP22 (Y97fs)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 8437	NM_000304.4(PMP22):c.281dup (p.Arg95fs)	PMP22 (R95fs)	Duplication (frameshift variant +1 more)	Charcot-Marie-Tooth disease +2 more	GPathogenic/Likely pathogenic
Select item 30158	NM_000304.4(PMP22):c.281del (p.Gly94fs)	PMP22 (G94fs)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic
Select item 637390	NM_000304.4(PMP22):c.277G>C (p.Gly93Arg)	PMP22 (G93R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 637389	NM_000304.4(PMP22):c.256C>T (p.Gln86Ter)	PMP22 (Q86*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 637837	NM_000304.4(PMP22):c.248TCT[1] (p.Phe84del)	PMP22 (F84del)	Microsatellite (inframe_deletion +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GConflicting classifications of pathogenicity
Select item 637845	NM_000304.4(PMP22):c.239T>C (p.Leu80Pro)	PMP22 (L80P)	Single nucleotide variant (missense variant +1 more)	Dejerine-Sottas disease	GUncertain significance
Select item 637830	NM_000304.4(PMP22):c.239T>G (p.Leu80Arg)	PMP22 (L80R)	Single nucleotide variant (missense variant +1 more)	Dejerine-Sottas disease	GUncertain significance
Select item 637822	NM_000304.4(PMP22):c.235T>C (p.Ser79Pro)	PMP22 (S79P)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 431943	NM_000304.4(PMP22):c.233T>C (p.Leu78Pro)	PMP22 (L78P)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 637844	NM_000304.4(PMP22):c.227G>T (p.Ser76Ile)	PMP22 (S76I)	Single nucleotide variant (missense variant +1 more)	Dejerine-Sottas disease	GUncertain significance
Select item 637372	NM_000304.4(PMP22):c.227del (p.Ser76fs)	PMP22 (S76fs)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 637843	NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)	PMP22 (S72W)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic/Likely pathogenic
Select item 637384	NM_000304.4(PMP22):c.214T>C (p.Ser72Pro)	PMP22 (S72P)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 637819	NM_000304.4(PMP22):c.212T>C (p.Leu71Pro)	PMP22 (L71P)	Single nucleotide variant (missense variant +1 more)	Dejerine-Sottas disease	GUncertain significance
Select item 637834	NM_000304.4(PMP22):c.206T>G (p.Met69Arg)	PMP22 (M69R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637832	NM_000304.4(PMP22):c.193G>T (p.Val65Phe)	PMP22 (V65F)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637386	NM_000304.4(PMP22):c.183G>A (p.Trp61Ter)	PMP22 (W61*)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 827642	NM_000304.4(PMP22):c.179-1G>A	PMP22	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637378	NM_000304.4(PMP22):c.179-1G>C	PMP22	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637829	NM_000304.4(PMP22):c.179-2A>G	PMP22	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease	GPathogenic
Select item 637839	NM_000304.4(PMP22):c.174_178+7del	PMP22	Deletion (splice donor variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637817	NM_000304.4(PMP22):c.178+1G>C	PMP22	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637828	NM_000304.4(PMP22):c.138_139delinsA (p.Ser47fs)	PMP22 (S47fs)	Indel (frameshift variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 219616	NM_000304.4(PMP22):c.138del (p.Ser47fs)	PMP22 (S47fs)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic/Likely pathogenic
Select item 637838	NM_000304.4(PMP22):c.130_131del (p.Thr44fs)	PMP22 (T44fs)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 208243	NM_000304.4(PMP22):c.117G>C (p.Trp39Cys)	PMP22 (W39C)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637374	NM_000304.4(PMP22):c.116G>A (p.Trp39Ter)	PMP22 (W39*)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637836	NM_000304.4(PMP22):c.88G>A (p.Val30Met)	PMP22 (V30M)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GConflicting classifications of pathogenicity
Select item 827643	NM_000304.4(PMP22):c.84G>T (p.Trp28Cys)	PMP22 (W28C)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 637371	NM_000304.4(PMP22):c.79-2A>G	PMP22	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 637824	NM_000304.4(PMP22):c.78+5G>A	PMP22	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637895	NM_000304.4(PMP22):c.75_78+2del	PMP22	Deletion (splice donor variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637821	NM_000304.4(PMP22):c.78+1G>T	PMP22	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637827	NM_000304.4(PMP22):c.76del (p.Ser26fs)	PMP22 (S26fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease	GPathogenic
Select item 411592	NM_000304.4(PMP22):c.68C>G (p.Thr23Arg)	PMP22 (T23R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GLikely pathogenic
Select item 637383	NM_000304.4(PMP22):c.56T>C (p.Leu19Pro)	PMP22 (L19P)	Single nucleotide variant (missense variant)	Dejerine-Sottas disease	GUncertain significance
Select item 637373	NM_000304.4(PMP22):c.53T>G (p.Leu18Arg)	PMP22 (L18R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 8434	NM_000304.4(PMP22):c.36C>A (p.His12Gln)	PMP22 (H12Q)	Single nucleotide variant (missense variant)	Roussy-Lévy syndrome +2 more	GPathogenic/Likely pathogenic
Select item 8435	NM_000304.4(PMP22):c.19_20del (p.Ser7fs)	PMP22 (S7fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
Select item 637380	NM_000304.4(PMP22):c.11del (p.Leu4fs)	PMP22 (L4fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637423	NM_000304.4(PMP22):c.-40G>A	PMP22	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 637422	NM_000304.4(PMP22):c.-134G>A	PMP22	Single nucleotide variant (5 prime UTR variant +1 more)	Guillain-Barre syndrome, familial +5 more	GUncertain significance
Select item 321865	NM_000304.4(PMP22):c.-141C>G	PMP22	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GLikely benign

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Items: 76