C0011195[trait identifier] AND "Inherited Neuropathy Consortium"[submi - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 447734	NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)	MPZ (K236del)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease type 2I +5 more	GConflicting classifications of pathogenicity
Select item 637794	NM_000530.8(MPZ):c.661_662dup (p.Met222fs)	MPZ (M222fs)	Duplication (frameshift variant)	Dejerine-Sottas disease	GUncertain significance
Select item 637792	NM_000530.8(MPZ):c.661G>A (p.Ala221Thr)	MPZ (A221T)	Single nucleotide variant (missense variant)	Dejerine-Sottas disease	GUncertain significance
Select item 637923	NM_000530.8(MPZ):c.522_525del (p.Leu175fs)	MPZ (L175fs)	Deletion (frameshift variant)	Dejerine-Sottas disease	GUncertain significance
Select item 14170	NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)	MPZ (G167R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +7 more	GPathogenic
Select item 577671	NM_000530.8(MPZ):c.411C>T (p.Gly137=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic
Select item 637755	NM_000530.8(MPZ):c.407T>A (p.Val136Glu)	MPZ (V136E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 637350	NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr)	MPZ (C127Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic/Likely pathogenic
Select item 637799	NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del)	MPZ	Deletion (inframe_deletion)	Dejerine-Sottas disease	GUncertain significance
Select item 14181	NM_000530.8(MPZ):c.371C>T (p.Thr124Met)	MPZ (T124M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +9 more	GPathogenic
Select item 449537	NM_000530.8(MPZ):c.368G>A (p.Gly123Asp)	MPZ (G123D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 637352	NM_000530.8(MPZ):c.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe)	MPZ	Indel (inframe_indel)	Dejerine-Sottas disease	GUncertain significance
Select item 637327	NM_000530.8(MPZ):c.190_192del (p.Phe64del)	MPZ (F64del)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 1B	GLikely pathogenic
Select item 14169	NM_000530.8(MPZ):c.188C>G (p.Ser63Cys)	MPZ (S63C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic
Select item 637483	NM_000530.8(MPZ):c.123_125del (p.Val42del)	MPZ (V42del)	Deletion (inframe_deletion)	Dejerine-Sottas disease	GUncertain significance
Select item 41014	NM_000530.8(MPZ):c.89T>C (p.Ile30Thr)	MPZ (I30T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GLikely pathogenic
Select item 16752	NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)	EGR2 (R359W +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +2 more	GPathogenic
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 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 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 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 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 637383	NM_000304.4(PMP22):c.56T>C (p.Leu19Pro)	PMP22 (L19P)	Single nucleotide variant (missense variant)	Dejerine-Sottas 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 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 637481	NM_181882.3(PRX):c.2035C>T (p.Arg679Ter)	PRX (R679*)	Single nucleotide variant (3 prime UTR variant +1 more)	Dejerine-Sottas disease	GUncertain significance
Select item 245870	NM_181882.3(PRX):c.1174C>T (p.Arg392Ter)	PRX (R392*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 38454	NM_181882.3(PRX):c.247del (p.Leu83fs)	PRX (L83fs)	Deletion (frameshift variant)	Autosomal recessive Dejerine-Sottas syndrome +1 more	GConflicting classifications of pathogenicity
Select item 220932	NM_000166.6(GJB1):c.235C>T (p.Leu79=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +4 more	GBenign/Likely benign
Select item 637925	NM_000166.6(GJB1):c.244A>G (p.Ile82Val)	GJB1 (I82V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 37