ClinVar for MedGen (Select 501212) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584815	NM_000304.4(PMP22):c.257_267del (p.Gln86fs)	PMP22 (Q86fs)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 1E	GLikely pathogenic
Select item 2580345	GRCh37/hg19 17p12(chr17:14095256-15492591)x3	CDRT15, CDRT4 +7 more	Copy number gain	Charcot-Marie-Tooth disease type 1E	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 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 586345	NM_000304.4(PMP22):c.362A>G (p.His121Arg)	PMP22 (H121R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 531692	NM_000304.4(PMP22):c.255C>G (p.Cys85Trp)	PMP22 (C85W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +8 more	GUncertain significance
Select item 462781	NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)	PMP22 (E160K)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I +6 more	GUncertain significance
Select item 433198	NM_000304.4(PMP22):c.449G>T (p.Gly150Val)	PMP22 (G150V)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 378379	NM_000304.4(PMP22):c.396C>T (p.Tyr132=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +9 more	GBenign/Likely benign
Select item 321862	NM_000304.4(PMP22):c.79-6C>T	PMP22	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +9 more	GBenign/Likely benign
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 188195	NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)	PMP22 (L62R)	Single nucleotide variant (missense variant +1 more)	Roussy-Lévy syndrome +8 more	GUncertain significance
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 8444	NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)	PMP22 (R157W)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I +3 more	GConflicting classifications of pathogenicity
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 8440	NM_000304.4(PMP22):c.82T>C (p.Trp28Arg)	PMP22 (W28R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GLikely pathogenic
Select item 8436	NM_000304.4(PMP22):c.199G>C (p.Ala67Pro)	PMP22 (A67P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic