"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 220332	NM_014845.6(FIG4):c.66+10C>T	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +5 more	GBenign/Likely benign
Select item 137374	NM_014845.6(FIG4):c.67-7T>C	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +4 more	GBenign
Select item 1721	NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)	FIG4 (I41T)	Single nucleotide variant (missense variant)	Yunis-Varon syndrome +8 more	GPathogenic/Likely pathogenic
Select item 381005	NM_014845.6(FIG4):c.446+9G>A	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +5 more	GConflicting classifications of pathogenicity
Select item 694980	NM_014845.6(FIG4):c.447-3dup	FIG4	Duplication (intron variant)	Yunis-Varon syndrome +6 more	GBenign
Select item 260451	NM_014845.6(FIG4):c.647-18C>A	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +3 more	GBenign
Select item 137375	NM_014845.6(FIG4):c.1090A>T (p.Met364Leu)	FIG4 (M364L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 260447	NM_014845.6(FIG4):c.1948+3A>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +7 more	GBenign
Select item 137377	NM_014845.6(FIG4):c.1961T>C (p.Val654Ala)	FIG4 (V654A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4J +7 more	GBenign
Select item 260448	NM_014845.6(FIG4):c.2097-10C>G	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 917082	NM_014845.6(FIG4):c.2377-20_2377-19insC	FIG4	Insertion (intron variant)	Charcot-Marie-Tooth disease type 4 +1 more	GBenign
Select item 917081	NM_014845.6(FIG4):c.2377-19T>C	FIG4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +2 more	GBenign
Select item 260449	NM_014845.6(FIG4):c.2559G>A (p.Ser853=)	FIG4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +7 more	GBenign