"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MPZ"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 293299	NM_000530.8(MPZ):c.*1048A>T	MPZ	Single nucleotide variant (3 prime UTR variant)	Neuropathy, congenital hypomyelinating, 2 +5 more	GConflicting classifications of pathogenicity
Select item 293310	NM_000530.8(MPZ):c.*195G>T	MPZ	Single nucleotide variant (3 prime UTR variant)	MPZ-related condition +6 more	GConflicting classifications of pathogenicity
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 546614	NM_000530.8(MPZ):c.691G>C (p.Ala231Pro)	MPZ (A231P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 637330	NM_000530.8(MPZ):c.681A>T (p.Arg227Ser)	MPZ (R227S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +2 more	GPathogenic/Likely pathogenic
Select item 1616708	NM_000530.8(MPZ):c.663A>G (p.Ala221=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I +1 more	GLikely benign
Select item 917385	NM_000530.8(MPZ):c.531C>T (p.Tyr177=)	MPZ	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely 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 2578587	NM_000530.8(MPZ):c.431T>A (p.Leu144Gln)	MPZ (L144Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806260	NM_000530.8(MPZ):c.417C>T (p.Thr139=)	MPZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 424920	NM_000530.8(MPZ):c.366T>G (p.Asn122Lys)	MPZ (N122K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872512	NM_000530.8(MPZ):c.361G>A (p.Asp121Asn)	MPZ (D121N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic
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 41026	NM_000530.8(MPZ):c.347A>G (p.Asn116Ser)	MPZ (N116S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1675390	NM_000530.8(MPZ):c.335T>G (p.Ile112Ser)	MPZ (I112S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 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 374578	NM_000530.8(MPZ):c.284T>C (p.Phe95Ser)	MPZ (F95S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 444185	NM_000530.8(MPZ):c.266_270dup (p.Glu91fs)	MPZ (E91fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 872513	NM_000530.8(MPZ):c.270C>T (p.Asp90=)	MPZ	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 806261	NM_000530.8(MPZ):c.260C>A (p.Pro87His)	MPZ (P87H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806262	NM_000530.8(MPZ):c.254G>C (p.Gly85Ala)	MPZ (G85A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1675391	NM_000530.8(MPZ):c.253G>A (p.Gly85Arg)	MPZ (G85R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 41017	NM_000530.8(MPZ):c.244T>C (p.Tyr82His)	MPZ (Y82H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +4 more	GPathogenic/Likely pathogenic
Select item 623708	NM_000530.8(MPZ):c.236T>C (p.Ile79Thr)	MPZ (I79T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 935883	NM_000530.8(MPZ):c.235-1G>T	MPZ	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 637803	NM_000530.8(MPZ):c.199C>T (p.Arg67Cys)	MPZ (R67C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 531693	NM_000530.8(MPZ):c.152C>T (p.Ser51Phe)	MPZ (S51F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic
Select item 14185	NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)	MPZ (S44F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +3 more	GPathogenic
Select item 462790	NM_000530.8(MPZ):c.103G>A (p.Asp35Asn)	MPZ (D35N)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 637434	NM_000530.8(MPZ):c.94G>T (p.Val32Phe)	MPZ (V32F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872514	NM_000530.8(MPZ):c.91G>A (p.Val31Met)	MPZ (V31M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 917386	NM_000530.8(MPZ):c.42G>A (p.Leu14=)	MPZ	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2639510	NM_000530.8(MPZ):c.40C>T (p.Leu14=)	MPZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 462791	NM_000530.8(MPZ):c.24C>T (p.Ser8=)	MPZ	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign

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Items: 41