ClinVar for MedGen (Select 1648303) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242211	NM_003632.3(CNTNAP1):c.1228G>A (p.Val410Met)	CNTNAP1 (V410M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4E	GUncertain significance
Select item 955998	NM_000399.5(EGR2):c.897AGC[7] (p.Ala308_Ala309dup)	EGR2	Microsatellite (inframe_insertion)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
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 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 374304	GRCh37/hg19 1q23.3(chr1:161255241-161276497)	MPZ	Copy number loss	Charcot-Marie-Tooth disease type 4E	GPathogenic
Select item 368837	NM_003001.5(SDHC):c.-38G>A	MPZ, SDHC	Single nucleotide variant	Gastrointestinal stromal tumor +11 more	GBenign
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 I +6 more	GConflicting classifications of pathogenicity
Select item 293313	NM_000530.8(MPZ):c.504G>A (p.Val168=)	MPZ	Single nucleotide variant (synonymous variant)	Roussy-Lévy syndrome +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, Intermediate +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)	Roussy-Lévy syndrome +6 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)	Charcot-Marie-Tooth disease type 1B +5 more	GBenign/Likely benign
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 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)	Roussy-Lévy syndrome +4 more	GConflicting classifications of pathogenicity
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 293303	NM_000530.8(MPZ):c.*858T>C	MPZ	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth, Intermediate +3 more	GUncertain significance
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 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)	Roussy-Lévy syndrome +4 more	GUncertain significance
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 246572	NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)	MPZ (G213R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +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)	not provided +10 more	GConflicting classifications of pathogenicity
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 138242	NM_000530.8(MPZ):c.600G>A (p.Gly200=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 1B +8 more	GBenign
Select item 129619	NM_000530.8(MPZ):c.684C>T (p.Ser228=)	MPZ	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +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)	Charcot-Marie-Tooth disease, type I +9 more	GBenign
Select item 38874	NM_000399.5(EGR2):c.1147G>T (p.Asp383Tyr)	EGR2 (D383Y +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 38873	NM_000399.5(EGR2):c.1146T>G (p.Ser382Arg)	EGR2 (S382R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 16751	NM_000399.3(EGR2):c.[1146T>G;1147G>T]	EGR2 (S382R +3 more)	Single nucleotide variant (missense variant)	Congenital hypomyelinating neuropathy 1, autosomal dominant	GPathogenic
Select item 16749	NM_000399.5(EGR2):c.803T>A (p.Ile268Asn)	EGR2 (I268N +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4E +1 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 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 14170	NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)	MPZ (G167R)	Single nucleotide variant (missense variant)	Dejerine-Sottas disease +7 more	GPathogenic

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Items: 38