"Inherited Neuropathy Consortium"[submitter] AND "INF2"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 637708	NM_022489.4(INF2):c.170T>G (p.Leu57Arg)	INF2 (L57R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637700	NM_022489.4(INF2):c.170T>C (p.Leu57Pro)	INF2 (L57P)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GPathogenic
Select item 637709	NM_022489.4(INF2):c.203T>C (p.Phe68Ser)	INF2 (F68S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637946	NM_022489.4(INF2):c.205_216del (p.Leu69_Ser72del)	INF2	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637710	NM_022489.4(INF2):c.206T>C (p.Leu69Pro)	INF2 (L69P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637707	NM_022489.4(INF2):c.230T>C (p.Leu77Pro)	INF2 (L77P)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GPathogenic
Select item 637705	NM_022489.4(INF2):c.230T>G (p.Leu77Arg)	INF2 (L77R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 637703	NM_022489.4(INF2):c.314T>G (p.Val105Gly)	INF2 (V105G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637701	NM_022489.4(INF2):c.317G>C (p.Arg106Pro)	INF2 (R106P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637711	NM_022489.4(INF2):c.323T>A (p.Val108Asp)	INF2 (V108D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 637704	NM_022489.4(INF2):c.341G>A (p.Gly114Asp)	INF2 (G114D)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GPathogenic
Select item 637706	NM_022489.4(INF2):c.395T>C (p.Leu132Pro)	INF2 (L132P)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 637702	NM_022489.4(INF2):c.494T>C (p.Leu165Pro)	INF2 (L165P)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 599128	NM_022489.4(INF2):c.550G>A (p.Glu184Lys)	INF2 (E184K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GPathogenic
Select item 635443	NM_022489.4(INF2):c.640C>T (p.Arg214Cys)	INF2 (R214C)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GPathogenic
Select item 523533	NM_022489.4(INF2):c.658G>A (p.Glu220Lys)	INF2 (E220K)	Single nucleotide variant (missense variant)	Hypertensive disorder +6 more	GPathogenic/Likely pathogenic
Select item 312713	NM_022489.4(INF2):c.*10C>T	INF2 (P1235S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign