"GeneDx"[submitter] AND "MPZ"[gene] - ClinVar

Search results

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 1246332	NC_000001.11:g.161304658G>C	MPZ	Single nucleotide variant (genic downstream transcript variant)	not provided	GBenign
Select item 293302	NM_000530.8(MPZ):c.*901GA[7]	MPZ	Microsatellite (3 prime UTR variant)	Charcot-Marie-Tooth, Intermediate +4 more	GBenign
Select item 293304	NM_000530.8(MPZ):c.*761A>G	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +5 more	GBenign
Select item 293307	NM_000530.8(MPZ):c.*624C>T	MPZ	Single nucleotide variant (3 prime UTR variant)	not provided +5 more	GBenign/Likely benign
Select item 293308	NM_000530.8(MPZ):c.*568C>G	MPZ	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1B +5 more	GBenign/Likely benign
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 234764	NM_000530.8(MPZ):c.731G>T (p.Arg244Leu)	MPZ (R244L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 531707	NM_000530.8(MPZ):c.708G>A (p.Lys236=)	MPZ	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 447734	NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)	MPZ (K236del)	Microsatellite (inframe_deletion)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 817625	NM_000530.8(MPZ):c.699_702del (p.Ser233fs)	MPZ (S233fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 1304367	NM_000530.8(MPZ):c.692C>A (p.Ala231Asp)	MPZ (A231D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129619	NM_000530.8(MPZ):c.684C>T (p.Ser228=)	MPZ	Single nucleotide variant (synonymous variant)	Neuropathy, congenital hypomyelinating, 2 +8 more	GBenign/Likely benign
Select item 1308149	NM_000530.8(MPZ):c.675C>A (p.His225Gln)	MPZ (H225Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373619	NM_000530.8(MPZ):c.646-3C>A	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I +2 more	GUncertain significance
Select item 447732	NM_000530.8(MPZ):c.646-7C>G	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I +2 more	GConflicting classifications of pathogenicity
Select item 1294157	NM_000530.8(MPZ):c.646-29G>C	MPZ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 390997	NM_000530.8(MPZ):c.645+12T>C	MPZ	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I +1 more	GLikely benign
Select item 246572	NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)	MPZ (G213R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +9 more	GConflicting classifications of pathogenicity
Select item 817219	NM_000530.8(MPZ):c.615_617delinsC (p.Gly206fs)	MPZ (G206fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 423781	NM_000530.8(MPZ):c.610A>G (p.Lys204Glu)	MPZ (K204E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 138242	NM_000530.8(MPZ):c.600G>A (p.Gly200=)	MPZ	Single nucleotide variant (synonymous variant)	Neuropathy, congenital hypomyelinating, 2 +8 more	GBenign
Select item 246180	NM_000530.8(MPZ):c.595A>G (p.Lys199Glu)	MPZ (K199E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 432541	NM_000530.8(MPZ):c.585-2A>T	MPZ	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 246029	NM_000530.8(MPZ):c.584+2T>G	MPZ	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 567748	NM_000530.8(MPZ):c.542A>G (p.Tyr181Cys)	MPZ (Y181C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 293313	NM_000530.8(MPZ):c.504G>A (p.Val168=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +8 more	GBenign/Likely benign
Select item 41022	NM_000530.8(MPZ):c.487G>C (p.Gly163Arg)	MPZ (G163R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 245975	NM_000530.8(MPZ):c.464G>T (p.Gly155Val)	MPZ (G155V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1188143	NM_000530.8(MPZ):c.449-63G>A	MPZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683190	NM_000530.8(MPZ):c.448+122C>T	MPZ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683189	NM_000530.8(MPZ):c.448+64T>C	MPZ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2504290	NM_000530.8(MPZ):c.448+1G>A	MPZ	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic/Likely pathogenic
Select item 430459	NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys)	MPZ (Y145C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +2 more	GConflicting classifications of pathogenicity
Select item 14191	NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)	MPZ (Y145S)	Single nucleotide variant (missense variant)	MPZ-related condition +9 more	GPathogenic
Select item 531684	NM_000530.8(MPZ):c.428C>T (p.Thr143Met)	MPZ (T143M)	Single nucleotide variant (missense variant)	Neuropathy, congenital hypomyelinating, 2 +6 more	GUncertain significance
Select item 234852	NM_000530.8(MPZ):c.424G>T (p.Val142Phe)	MPZ (V142F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 449536	NM_000530.8(MPZ):c.400G>A (p.Asp134Asn)	MPZ (D134N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1B +2 more	GConflicting classifications of pathogenicity
Select item 637337	NM_000530.8(MPZ):c.397C>T (p.Pro133Ser)	MPZ (P133S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GLikely pathogenic
Select item 462796	NM_000530.8(MPZ):c.394C>G (p.Pro132Ala)	MPZ (P132A)	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)	Inborn genetic diseases +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 245997	NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys)	MPZ (Y119C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic/Likely pathogenic
Select item 41020	NM_000530.8(MPZ):c.337G>T (p.Val113Phe)	MPZ (V113F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 449538	NM_000530.8(MPZ):c.332C>G (p.Ser111Cys)	MPZ (S111C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 14199	NM_000530.8(MPZ):c.313C>A (p.Pro105Thr)	MPZ (P105T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GConflicting classifications of pathogenicity
Select item 1211734	NM_000530.8(MPZ):c.312C>A (p.Asp104Glu)	MPZ (D104E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +3 more	GUncertain significance
Select item 430241	NM_000530.8(MPZ):c.309G>T (p.Gly103=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic/Likely pathogenic
Select item 14187	NM_000530.8(MPZ):c.308G>A (p.Gly103Glu)	MPZ (G103E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 14176	NM_000530.8(MPZ):c.293G>A (p.Arg98His)	MPZ (R98H)	Single nucleotide variant (missense variant)	MPZ-related condition +10 more	GPathogenic/Likely pathogenic
Select item 14175	NM_000530.8(MPZ):c.292C>T (p.Arg98Cys)	MPZ (R98C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +2 more	GPathogenic
Select item 411666	NM_000530.8(MPZ):c.278G>A (p.Gly93Glu)	MPZ (G93E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 242745	NM_000530.8(MPZ):c.274G>A (p.Val92Met)	MPZ (V92M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 580756	NM_000530.8(MPZ):c.271G>A (p.Glu91Lys)	MPZ (E91K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 242786	NM_000530.8(MPZ):c.266T>A (p.Ile89Asn)	MPZ (I89N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 387198	NM_000530.8(MPZ):c.235-7C>T	MPZ	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1198396	NM_000530.8(MPZ):c.235-166C>T	MPZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 14188	NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)	MPZ (S78L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GPathogenic
Select item 1303421	NM_000530.8(MPZ):c.231T>G (p.Ile77Met)	MPZ (I77M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 237875	NM_000530.8(MPZ):c.200G>A (p.Arg67His)	MPZ (R67H)	Single nucleotide variant (missense variant)	Neuropathy, congenital hypomyelinating, 2 +8 more	GConflicting classifications of pathogenicity
Select item 246121	NM_000530.8(MPZ):c.188_190del (p.Ser63del)	MPZ (S63del)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease, type I +1 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 188168	NM_000530.8(MPZ):c.182A>G (p.Asp61Gly)	MPZ (D61G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic/Likely pathogenic
Select item 246527	NM_000530.8(MPZ):c.176C>T (p.Ser59Leu)	MPZ (S59L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GConflicting classifications of pathogenicity
Select item 422079	NM_000530.8(MPZ):c.149_151dup (p.Cys50dup)	MPZ	Duplication (inframe_insertion)	not provided	GLikely pathogenic
Select item 234908	NM_000530.8(MPZ):c.149G>T (p.Cys50Phe)	MPZ (C50F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 246122	NM_000530.8(MPZ):c.129_136del (p.Ser44fs)	MPZ (S44fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic
Select item 246524	NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)	MPZ (R45W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +10 more	GConflicting classifications of pathogenicity
Select item 217232	NM_000530.8(MPZ):c.116A>C (p.His39Pro)	MPZ (H39P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 420151	NM_000530.8(MPZ):c.106A>G (p.Arg36Gly)	MPZ (R36G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GConflicting classifications of pathogenicity
Select item 221065	NM_000530.8(MPZ):c.106A>T (p.Arg36Trp)	MPZ (R36W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic
Select item 14183	NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr)	MPZ (D35Y)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 372846	NM_000530.8(MPZ):c.68-1G>C	MPZ	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic/Likely pathogenic
Select item 1182631	NM_000530.8(MPZ):c.67+287del	MPZ	Deletion (intron variant)	not provided	GBenign
Select item 1211022	NM_000530.8(MPZ):c.67+285_67+286insT	MPZ	Insertion (intron variant)	not provided	GLikely benign
Select item 669586	NM_000530.8(MPZ):c.67+272C>A	MPZ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667646	NM_000530.8(MPZ):c.67+111A>G	MPZ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 511451	NM_000530.8(MPZ):c.51G>A (p.Leu17=)	MPZ	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 422047	NM_000530.8(MPZ):c.26del (p.Ser9fs)	MPZ (S9fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 462791	NM_000530.8(MPZ):c.24C>T (p.Ser8=)	MPZ	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 426657	NM_000530.8(MPZ):c.-23_8dup (p.Ala5fs)	MPZ (A5fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 637506	NM_000530.8(MPZ):c.1A>G (p.Met1Val)	MPZ (M1V)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic
Select item 517838	NM_000530.8(MPZ):c.-34_-17del	MPZ	Deletion (5 prime UTR variant)	not specified	GLikely benign
Select item 683188	NM_000530.6(MPZ):c.-187T>C	MPZ	Single nucleotide variant	not provided	GBenign
Select item 368837	NM_003001.5(SDHC):c.-38G>A	MPZ, SDHC	Single nucleotide variant	Charcot-Marie-Tooth, Intermediate +11 more	GBenign
Select item 44647	NM_003001.3(SDHC):c.20+11_20+12dup	MPZ, SDHC	Duplication (5 prime UTR variant +1 more)	Charcot-Marie-Tooth, Intermediate +9 more	GBenign

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Items: 88