ClinVar for MedGen (Select 334709) - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2580933	NM_000399.5(EGR2):c.524C>A (p.Ser175Tyr)	EGR2 (S125Y +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 2431049	NM_000399.5(EGR2):c.1190C>A (p.Pro397His)	EGR2 (P347H +2 more)	Single nucleotide variant (missense variant)	ERG2-related disorders +1 more	GConflicting classifications of pathogenicity
Select item 879262	NM_000399.5(EGR2):c.*79C>A	EGR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 878663	NM_000399.5(EGR2):c.*150A>G	EGR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 878662	NM_000399.5(EGR2):c.*230G>T	EGR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 878661	NM_000399.5(EGR2):c.*618T>C	EGR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 877689	NM_000399.5(EGR2):c.-299G>A	EGR2	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 877688	NM_000399.5(EGR2):c.-64A>C	EGR2	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
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 637524	NM_000399.5(EGR2):c.1141C>T (p.Arg381Cys)	EGR2 (R381C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic
Select item 637523	NM_000399.5(EGR2):c.1057C>G (p.Arg353Gly)	EGR2 (R353G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1D +1 more	GUncertain significance
Select item 637522	NM_000399.5(EGR2):c.1147G>C (p.Asp383His)	EGR2 (D383H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637521	NM_000399.5(EGR2):c.1064A>T (p.Asp355Val)	EGR2 (D355V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +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 462785	NM_000399.5(EGR2):c.457A>C (p.Thr153Pro)	EGR2 (T153P +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1D +3 more	GConflicting classifications of pathogenicity
Select item 409979	NM_000399.5(EGR2):c.1235A>G (p.Glu412Gly)	EGR2 (E412G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 300281	NM_000399.5(EGR2):c.-1A>G	EGR2	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 300280	NM_000399.5(EGR2):c.169+10G>T	EGR2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 1D +2 more	GBenign
Select item 300279	NM_000399.5(EGR2):c.246C>G (p.Val82=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 300278	NM_000399.5(EGR2):c.541C>T (p.Leu181Phe)	EGR2 (L181F +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 300277	NM_000399.5(EGR2):c.918C>T (p.Ala306=)	EGR2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 300276	NM_000399.5(EGR2):c.924C>T (p.Ala308=)	EGR2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 300275	NM_000399.5(EGR2):c.1360T>G (p.Cys454Gly)	EGR2 (C454G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 300274	NM_000399.5(EGR2):c.*145T>A	EGR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 300273	NM_000399.5(EGR2):c.*287T>A	EGR2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 300272	NM_000399.5(EGR2):c.*288G>A	EGR2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 300271	NM_000399.5(EGR2):c.*429G>A	EGR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1D	GBenign
Select item 300270	NM_000399.5(EGR2):c.*456G>A	EGR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 300269	NM_000399.5(EGR2):c.*646C>T	EGR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 300268	NM_000399.5(EGR2):c.*655G>A	EGR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 300266	NM_000399.5(EGR2):c.*874A>G	EGR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1D	GBenign
Select item 300265	NM_000399.5(EGR2):c.*919G>C	EGR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1D	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 256013	NM_000399.5(EGR2):c.1086A>C (p.Arg362=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I +4 more	GBenign
Select item 246186	NM_000399.5(EGR2):c.192G>C (p.Met64Ile)	EGR2 (M64I +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1D +4 more	GConflicting classifications of pathogenicity
Select item 246185	NM_000399.5(EGR2):c.174C>T (p.Gly58=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 1D +3 more	GBenign/Likely benign
Select item 246013	NM_000399.5(EGR2):c.644C>T (p.Thr215Met)	EGR2 (T215M +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1D +4 more	GConflicting classifications of pathogenicity
Select item 219918	NM_000399.5(EGR2):c.1352G>T (p.Gly451Val)	EGR2 (G451V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +3 more	GBenign/Likely benign
Select item 41009	NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn)	EGR2 (T387N +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 41008	NM_000399.5(EGR2):c.1142G>A (p.Arg381His)	EGR2 (R381H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1D +2 more	GPathogenic
Select item 41007	NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln)	EGR2 (R359Q +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GPathogenic
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 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 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 16750	NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp)	EGR2 (R409W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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

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Items: 47