"Molecular Genetics Laboratory, London Health Sciences Centre"[submitt - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 321859	NM_000304.4(PMP22):c.*59A>C	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +3 more	GBenign
Select item 916813	NM_000304.4(PMP22):c.477C>T (p.Arg159=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 8444	NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)	PMP22 (R157W)	Single nucleotide variant (missense variant +1 more)	PMP22-Related Disorders +3 more	GConflicting classifications of pathogenicity
Select item 917226	NM_000304.4(PMP22):c.467T>C (p.Leu156Ser)	PMP22 (L156S)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 586346	NM_000304.4(PMP22):c.433del (p.Leu145fs)	PMP22 (L145fs)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease +1 more	GPathogenic
Select item 648604	NM_000304.4(PMP22):c.420G>A (p.Trp140Ter)	PMP22 (W140*)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic/Likely pathogenic
Select item 892337	NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser)	PMP22 (Y136S)	Single nucleotide variant (missense variant +1 more)	Hereditary liability to pressure palsies +2 more	GUncertain significance
Select item 916814	NM_000304.4(PMP22):c.402C>T (p.Phe134=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 917228	NM_000304.4(PMP22):c.397G>A (p.Gly133Ser)	PMP22 (G133S)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I +3 more	GUncertain significance
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 705391	NM_000304.4(PMP22):c.366G>A (p.Pro122=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 916815	NM_000304.4(PMP22):c.354G>T (p.Thr118=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease	GLikely benign
Select item 8431	NM_000304.4(PMP22):c.353C>T (p.Thr118Met)	PMP22 (T118M)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 217237	NM_000304.4(PMP22):c.327C>A (p.Cys109Ter)	PMP22 (C109*)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease +2 more	GPathogenic
Select item 383080	NM_000304.4(PMP22):c.320-4C>T	PMP22	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 641676	NM_000304.4(PMP22):c.299G>T (p.Gly100Val)	PMP22 (G100V)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
Select item 448089	NM_000304.4(PMP22):c.284G>A (p.Arg95Lys)	PMP22 (R95K)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease +1 more	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 917225	NM_000304.4(PMP22):c.255C>A (p.Cys85Ter)	PMP22 (C85*)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease	GLikely pathogenic
Select item 917229	NM_000304.4(PMP22):c.238CTGTTC[1] (p.80LF[1])	PMP22	Microsatellite (inframe_deletion +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 8443	NM_000304.4(PMP22):c.199G>A (p.Ala67Thr)	PMP22 (A67T)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease +2 more	GConflicting classifications of pathogenicity
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 917227	NM_000304.4(PMP22):c.179-13C>G	PMP22	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
Select item 916816	NM_000304.4(PMP22):c.179-17G>A	PMP22	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I +2 more	GBenign
Select item 416789	NM_000304.4(PMP22):c.178+7C>A	PMP22	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 917224	NM_000304.4(PMP22):c.170C>G (p.Ser57Ter)	PMP22 (S57*)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease	GLikely pathogenic
Select item 215728	NM_000304.4(PMP22):c.152A>G (p.His51Arg)	PMP22 (H51R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease +2 more	GConflicting classifications of pathogenicity
Select item 462782	NM_000304.4(PMP22):c.87C>T (p.Ile29=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease +4 more	GLikely benign
Select item 321862	NM_000304.4(PMP22):c.79-6C>T	PMP22	Single nucleotide variant (intron variant)	Inborn genetic diseases +9 more	GBenign/Likely benign

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Items: 29