ClinVar for MedGen (Select 3710) - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062258	NM_000530.8(MPZ):c.562del (p.Ala188fs)	MPZ (A188fs)	Deletion (frameshift variant)	Dejerine-Sottas disease	GLikely pathogenic
Select item 2671834	NM_000530.8(MPZ):c.265_270del (p.Ile89_Asp90del)	MPZ	Deletion (inframe deletion)	Roussy-Lévy syndrome +2 more	GUncertain significance
Select item 2582455	NM_000399.5(EGR2):c.1294T>A (p.Ser432Thr)	EGR2 (S382T +2 more)	Single nucleotide variant (missense variant)	Dejerine-Sottas disease	GUncertain significance
Select item 2500122	NM_000304.4(PMP22):c.418_438del (p.Trp140_Ala146del)	PMP22	Deletion (inframe_deletion +1 more)	Dejerine-Sottas disease	GUncertain significance
Select item 1710493	NM_181882.3(PRX):c.4243G>A (p.Val1415Met)	PRX (V1415M +1 more)	Single nucleotide variant (missense variant +1 more)	Dejerine-Sottas disease +1 more	GUncertain significance
Select item 1687565	NM_000304.4(PMP22):c.34C>T (p.His12Tyr)	PMP22 (H12Y)	Single nucleotide variant (missense variant)	Dejerine-Sottas disease	GLikely pathogenic
Select item 1686102	NM_181882.3(PRX):c.1552_1558del (p.Pro518fs)	PRX (P518fs)	Deletion (3 prime UTR variant +1 more)	Dejerine-Sottas disease	GPathogenic
Select item 1685761	NM_000399.5(EGR2):c.1152C>A (p.His384Gln)	EGR2 (H334Q +1 more)	Single nucleotide variant (missense variant)	Dejerine-Sottas disease	GPathogenic
Select item 1525978	NM_000399.5(EGR2):c.1232A>G (p.Asp411Gly)	EGR2 (D361G +1 more)	Single nucleotide variant (missense variant)	Dejerine-Sottas disease	GPathogenic
Select item 1503566	NM_181882.3(PRX):c.2790G>C (p.Lys930Asn)	PRX (K930N)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1029319	NM_181882.3(PRX):c.4330G>C (p.Glu1444Gln)	PRX (E1444Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Dejerine-Sottas disease	GUncertain significance
Select item 958383	NM_000530.8(MPZ):c.234G>A (p.Ser78=)	MPZ	Single nucleotide variant (synonymous variant)	Dejerine-Sottas disease +3 more	GConflicting classifications of pathogenicity
Select item 638513	NM_000399.5(EGR2):c.380C>T (p.Pro127Leu)	EGR2 (P127L +1 more)	Single nucleotide variant (missense variant)	Dejerine-Sottas disease +1 more	GUncertain significance
Select item 637925	NM_000166.6(GJB1):c.244A>G (p.Ile82Val)	GJB1 (I82V)	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 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 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 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 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 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 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 637799	NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del)	MPZ	Deletion (inframe_deletion)	Dejerine-Sottas disease	GUncertain significance
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 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 637483	NM_000530.8(MPZ):c.123_125del (p.Val42del)	MPZ (V42del)	Deletion (inframe_deletion)	Dejerine-Sottas disease	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 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 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 637383	NM_000304.4(PMP22):c.56T>C (p.Leu19Pro)	PMP22 (L19P)	Single nucleotide variant (missense variant)	Dejerine-Sottas disease	GUncertain significance
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 637352	NM_000530.8(MPZ):c.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe)	MPZ	Indel (inframe_indel)	Dejerine-Sottas disease	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 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 634531	NM_181882.3(PRX):c.4318G>A (p.Val1440Met)	PRX (V1440M)	Single nucleotide variant (3 prime UTR variant +1 more)	Dejerine-Sottas disease +2 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 577671	NM_000530.8(MPZ):c.411C>T (p.Gly137=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 548617	NM_000399.5(EGR2):c.1084C>T (p.Arg362Ter)	EGR2 (R362* +1 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4E +2 more	GUncertain significance
Select item 547996	NM_181882.3(PRX):c.80C>A (p.Thr27Asn)	LOC130064454, PRX (T27N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4F +3 more	GUncertain significance
Select item 543373	NM_181882.3(PRX):c.718C>T (p.Arg240Trp)	PRX (R240W)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +3 more	GUncertain significance
Select item 543355	NM_181882.3(PRX):c.4307G>A (p.Arg1436Gln)	PRX (R1436Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +5 more	GUncertain significance
Select item 531692	NM_000304.4(PMP22):c.255C>G (p.Cys85Trp)	PMP22 (C85W)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GUncertain significance
Select item 488548	NM_000530.8(MPZ):c.558del (p.Arg186fs)	MPZ (R186fs)	Deletion (frameshift variant)	Dejerine-Sottas disease +1 more	GPathogenic
Select item 462797	NM_000530.8(MPZ):c.397C>A (p.Pro133Thr)	MPZ (P133T)	Single nucleotide variant (missense variant)	Roussy-Lévy syndrome +7 more	GPathogenic/Likely pathogenic
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 449537	NM_000530.8(MPZ):c.368G>A (p.Gly123Asp)	MPZ (G123D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 447734	NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)	MPZ (K236del)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease type 2I +4 more	GConflicting classifications of pathogenicity
Select item 433553	NM_181882.3(PRX):c.1012del (p.Ala338fs)	PRX (A338fs)	Deletion (3 prime UTR variant +1 more)	Dejerine-Sottas disease	GPathogenic
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)	Charcot-Marie-Tooth disease, type I +9 more	GBenign/Likely benign
Select item 329277	NM_181882.3(PRX):c.1281C>T (p.Ile427=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +6 more	GBenign/Likely benign
Select item 329274	NM_181882.3(PRX):c.1625G>A (p.Arg542Gln)	PRX (R542Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +4 more	GBenign/Likely benign
Select item 329271	NM_181882.3(PRX):c.1964C>T (p.Pro655Leu)	PRX (P655L)	Single nucleotide variant (3 prime UTR variant +1 more)	Dejerine-Sottas disease +4 more	GBenign/Likely benign
Select item 329250	NM_181882.3(PRX):c.4044G>C (p.Gly1348=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +6 more	GBenign/Likely 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
Select item 285766	NM_000399.5(EGR2):c.627= (p.Pro209=)	EGR2	Single nucleotide variant (no sequence alteration)	Charcot-Marie-Tooth disease type 4E +4 more	GBenign
Select item 246524	NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)	MPZ (R45W)	Single nucleotide variant (missense variant)	MPZ-related condition +10 more	GConflicting classifications of pathogenicity
Select item 246316	NM_181882.3(PRX):c.1546C>T (p.Arg516Trp)	PRX (R516W)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +4 more	GConflicting classifications of pathogenicity
Select item 245870	NM_181882.3(PRX):c.1174C>T (p.Arg392Ter)	PRX (R392*)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GPathogenic
Select item 245824	NM_181882.3(PRX):c.3769G>A (p.Gly1257Arg)	PRX (G1257R)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +4 more	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 220932	NM_000166.6(GJB1):c.235C>T (p.Leu79=)	GJB1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 216963	NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)	MPZ (P151T)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 188195	NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)	PMP22 (L62R)	Single nucleotide variant (missense variant +1 more)	Hereditary liability to pressure palsies +8 more	GUncertain significance
Select item 130053	NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg)	PRX (G1132R)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4F +5 more	GBenign
Select item 130049	NM_181882.3(PRX):c.2655T>C (p.Pro885=)	PRX	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GBenign
Select item 130048	NM_181882.3(PRX):c.2645T>C (p.Val882Ala)	PRX (V882A)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +5 more	GBenign
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	GLikely pathogenic
Select item 38454	NM_181882.3(PRX):c.247del (p.Leu83fs)	PRX (L83fs)	Deletion (frameshift variant)	Dejerine-Sottas disease +1 more	GConflicting classifications of pathogenicity
Select item 16753	NM_000399.5(EGR2):c.1234G>A (p.Glu412Lys)	EGR2 (E412K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GPathogenic
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 14191	NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)	MPZ (Y145S)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic
Select item 14181	NM_000530.8(MPZ):c.371C>T (p.Thr124Met)	MPZ (T124M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate D +9 more	GPathogenic
Select item 14172	NM_000530.8(MPZ):c.404T>C (p.Ile135Thr)	MPZ (I135T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 14170	NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)	MPZ (G167R)	Single nucleotide variant (missense variant)	Roussy-Lévy syndrome +7 more	GPathogenic
Select item 14169	NM_000530.8(MPZ):c.188C>G (p.Ser63Cys)	MPZ (S63C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 10451	NM_000166.6(GJB1):c.407T>C (p.Val136Ala)	GJB1 (V136A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GPathogenic
Select item 8434	NM_000304.4(PMP22):c.36C>A (p.His12Gln)	PMP22 (H12Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 4794	NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)	PRX (R1070*)	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GPathogenic/Likely pathogenic

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Items: 82