ClinVar for MedGen (Select 64430) - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340162	NM_000530.8(MPZ):c.30del (p.Ser11fs)	MPZ (S11fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2I +5 more	GPathogenic
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 931561	NM_000530.8(MPZ):c.603dup (p.Leu202fs)	MPZ (L202fs)	Duplication (frameshift variant)	Roussy-Lévy syndrome	GUncertain significance
Select item 930962	NM_000530.8(MPZ):c.392dup (p.Asn131fs)	MPZ (N131fs)	Duplication (frameshift variant)	Roussy-Lévy syndrome	GLikely pathogenic
Select item 876416	NM_000530.8(MPZ):c.*360C>G	MPZ	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1B +4 more	GConflicting classifications of pathogenicity
Select item 876415	NM_000530.8(MPZ):c.*369C>T	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +3 more	GUncertain significance
Select item 876373	NM_000530.8(MPZ):c.*752G>A	MPZ	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1B +3 more	GUncertain significance
Select item 876254	NM_000530.8(MPZ):c.*903G>A	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +3 more	GUncertain significance
Select item 875495	NM_000530.8(MPZ):c.184A>G (p.Ile62Val)	MPZ (I62V)	Single nucleotide variant (missense variant)	Neuropathy, congenital hypomyelinating, 2 +3 more	GUncertain significance
Select item 875384	NM_000530.8(MPZ):c.*435T>G	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +3 more	GUncertain significance
Select item 875383	NM_000530.8(MPZ):c.*522C>A	MPZ	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1B +3 more	GUncertain significance
Select item 874516	NM_000530.8(MPZ):c.*102C>T	MPZ	Single nucleotide variant (3 prime UTR variant +1 more)	Roussy-Lévy syndrome +3 more	GUncertain significance
Select item 874466	NM_000530.8(MPZ):c.*341A>G	MPZ	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1B +3 more	GUncertain significance
Select item 873574	NM_000530.8(MPZ):c.444A>T (p.Glu148Asp)	MPZ (E148D)	Single nucleotide variant (missense variant)	Roussy-Lévy syndrome +3 more	GUncertain significance
Select item 872649	NM_000304.4(PMP22):c.260T>C (p.Leu87Pro)	PMP22 (L87P)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 637777	NM_000530.8(MPZ):c.173T>A (p.Val58Asp)	MPZ (V58D)	Single nucleotide variant (missense variant)	Roussy-Lévy syndrome +1 more	GConflicting classifications of pathogenicity
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)	not provided +8 more	GUncertain significance
Select item 531684	NM_000530.8(MPZ):c.428C>T (p.Thr143Met)	MPZ (T143M)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 462797	NM_000530.8(MPZ):c.397C>A (p.Pro133Thr)	MPZ (P133T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1B +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)	Inborn genetic diseases +7 more	GUncertain significance
Select item 378379	NM_000304.4(PMP22):c.396C>T (p.Tyr132=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	not provided +9 more	GBenign/Likely benign
Select item 374017	NM_000530.8(MPZ):c.699T>G (p.Ser233Arg)	MPZ (S233R)	Single nucleotide variant (missense variant)	Roussy-Lévy syndrome +4 more	GLikely pathogenic
Select item 373965	NM_000304.4(PMP22):c.422T>G (p.Val141Gly)	PMP22 (V141G)	Single nucleotide variant (missense variant +1 more)	Roussy-Lévy syndrome +3 more	GUncertain significance
Select item 368837	NM_003001.5(SDHC):c.-38G>A	MPZ, SDHC	Single nucleotide variant	Carney-Stratakis syndrome +11 more	GBenign
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 293315	NM_000530.8(MPZ):c.-49C>A	MPZ	Single nucleotide variant (5 prime UTR variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 293314	NM_000530.8(MPZ):c.77C>T (p.Pro26Leu)	MPZ (P26L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1B +6 more	GConflicting classifications of pathogenicity
Select item 293313	NM_000530.8(MPZ):c.504G>A (p.Val168=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I +8 more	GBenign/Likely benign
Select item 293312	NM_000530.8(MPZ):c.515T>C (p.Leu172Pro)	MPZ (L172P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4E +3 more	GUncertain significance
Select item 293311	NM_000530.8(MPZ):c.*52G>A	MPZ (G267S)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuropathy, congenital hypomyelinating, 2 +4 more	GConflicting classifications of pathogenicity
Select item 293310	NM_000530.8(MPZ):c.*195G>T	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +5 more	GConflicting classifications of pathogenicity
Select item 293309	NM_000530.8(MPZ):c.*251C>G	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +4 more	GUncertain significance
Select item 293308	NM_000530.8(MPZ):c.*568C>G	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +5 more	GBenign/Likely benign
Select item 293307	NM_000530.8(MPZ):c.*624C>T	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +5 more	GBenign/Likely benign
Select item 293306	NM_000530.8(MPZ):c.*681A>T	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +4 more	GUncertain significance
Select item 293305	NM_000530.8(MPZ):c.*743C>T	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +4 more	GConflicting classifications of pathogenicity
Select item 293304	NM_000530.8(MPZ):c.*761A>G	MPZ	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1B +5 more	GBenign
Select item 293303	NM_000530.8(MPZ):c.*858T>C	MPZ	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4E +3 more	GUncertain significance
Select item 293302	NM_000530.8(MPZ):c.*901GA[7]	MPZ	Microsatellite (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4E +4 more	GBenign
Select item 293301	NM_000530.8(MPZ):c.*954C>A	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +4 more	GUncertain significance
Select item 293300	NM_000530.8(MPZ):c.*1020G>A	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +4 more	GUncertain significance
Select item 293299	NM_000530.8(MPZ):c.*1048A>T	MPZ	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 4E +5 more	GConflicting classifications of pathogenicity
Select item 293298	NM_000530.8(MPZ):c.*1074A>C	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +4 more	GUncertain significance
Select item 246572	NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)	MPZ (G213R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +9 more	GConflicting classifications of pathogenicity
Select item 246524	NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)	MPZ (R45W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +9 more	GConflicting classifications of pathogenicity
Select item 237875	NM_000530.8(MPZ):c.200G>A (p.Arg67His)	MPZ (R67H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +8 more	GConflicting classifications of pathogenicity
Select item 217238	NM_000304.4(PMP22):c.434del (p.Leu145fs)	PMP22 (L145fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 216963	NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)	MPZ (P151T)	Single nucleotide variant (missense variant)	Dejerine-Sottas disease +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 138242	NM_000530.8(MPZ):c.600G>A (p.Gly200=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2I +9 more	GBenign
Select item 129619	NM_000530.8(MPZ):c.684C>T (p.Ser228=)	MPZ	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
Select item 44647	NM_003001.3(SDHC):c.20+11_20+12dup	MPZ, SDHC	Duplication (5 prime UTR variant +1 more)	Gastrointestinal stromal tumor +9 more	GBenign
Select item 14194	NM_000530.8(MPZ):c.186C>G (p.Ile62Met)	MPZ (I62M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +3 more	GConflicting classifications of pathogenicity
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 14186	NM_000530.8(MPZ):c.393C>A (p.Asn131Lys)	MPZ (N131K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 14181	NM_000530.8(MPZ):c.371C>T (p.Thr124Met)	MPZ (T124M)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic
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 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 8427	NC_000017.11:g.(?_14440201)_(15475424_?)dup	PMP22	Duplication	Roussy-Lévy syndrome +1 more	GPathogenic

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Items: 61