ClinVar for MedGen (Select 413315) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066336	NM_022489.4(INF2):c.640C>G (p.Arg214Gly)	INF2 (R214G)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5	GLikely pathogenic
Select item 3066232	NM_022489.4(INF2):c.315_323del (p.Arg106_Val108del)	INF2	Deletion (inframe deletion +1 more)	Focal segmental glomerulosclerosis 5	GLikely pathogenic
Select item 3066115	NM_022489.4(INF2):c.210_224del (p.Glu70_Leu74del)	INF2	Deletion (inframe deletion +1 more)	Focal segmental glomerulosclerosis 5	GUncertain significance
Select item 2954545	NM_022489.4(INF2):c.2023C>G (p.Leu675Val)	INF2 (L675V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 2954018	NM_022489.4(INF2):c.622C>G (p.Pro208Ala)	INF2 (P208A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 2953912	NM_022489.4(INF2):c.290T>G (p.Leu97Arg)	INF2 (L97R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 2953892	NM_022489.4(INF2):c.3236A>G (p.Tyr1079Cys)	INF2 (Y1079C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GLikely benign
Select item 2953871	NM_022489.4(INF2):c.14A>T (p.Glu5Val)	INF2 (E5V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 2953629	NM_022489.4(INF2):c.1950-11C>T	INF2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GLikely benign
Select item 2953216	NM_022489.4(INF2):c.772G>A (p.Glu258Lys)	INF2 (E258K)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2953160	NM_022489.4(INF2):c.1063_1080dup (p.Val360_Gln361insLysAlaHisLysSerVal)	INF2	Duplication (inframe_insertion +1 more)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2952885	NM_022489.4(INF2):c.1379C>G (p.Pro460Arg)	INF2 (P460R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2952732	NM_022489.4(INF2):c.679C>T (p.Leu227=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2952342	NM_022489.4(INF2):c.866C>T (p.Ala289Val)	INF2 (A289V)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2952085	NM_022489.4(INF2):c.1780G>C (p.Ala594Pro)	INF2 (A594P)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2951348	NM_022489.4(INF2):c.3709del (p.Ser1237fs)	INF2 (S1237fs)	Deletion (frameshift variant +1 more)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2951278	NM_022489.4(INF2):c.1555C>A (p.Pro519Thr)	INF2 (P519T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GBenign
Select item 2951251	NM_022489.4(INF2):c.3717T>A (p.Asp1239Glu)	INF2 (D1239E)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2950533	NM_022489.4(INF2):c.3174G>C (p.Gln1058His)	INF2 (Q1058H)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2950040	NM_022489.4(INF2):c.699G>A (p.Leu233=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2949987	NM_022489.4(INF2):c.804G>T (p.Met268Ile)	INF2 (M268I)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2949821	NM_022489.4(INF2):c.2489+16C>T	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2949690	NM_022489.4(INF2):c.3040+7C>T	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2949668	NM_022489.4(INF2):c.332C>T (p.Ser111Leu)	INF2 (S111L)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2949447	NM_022489.4(INF2):c.2268C>T (p.Ile756=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2949403	NM_022489.4(INF2):c.264C>G (p.Gly88=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2949282	NM_022489.4(INF2):c.702-15G>A	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2949077	NM_022489.4(INF2):c.3354C>T (p.Ser1118=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2949010	NM_022489.4(INF2):c.66T>C (p.Asp22=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2948965	NM_022489.4(INF2):c.272G>T (p.Arg91Leu)	INF2 (R91L)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2948951	NM_022489.4(INF2):c.1879C>A (p.Pro627Thr)	INF2 (P627T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2948632	NM_022489.4(INF2):c.743T>C (p.Phe248Ser)	INF2 (F248S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2948545	NM_022489.4(INF2):c.1077C>T (p.Ser359=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +2 more	GLikely benign
Select item 2948471	NM_022489.4(INF2):c.1604AGG[1] (p.Glu536del)	INF2 (E536del)	Microsatellite (inframe_deletion +1 more)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2948143	NM_022489.4(INF2):c.3214C>T (p.Leu1072=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2948117	NM_022489.4(INF2):c.261_262dup (p.Gly88fs)	INF2 (G88fs)	Microsatellite (frameshift variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2948098	NM_022489.4(INF2):c.3715G>A (p.Asp1239Asn)	INF2 (D1239N)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2948032	NM_022489.4(INF2):c.667+17G>T	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2948008	NM_022489.4(INF2):c.1736-5G>A	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2947998	NM_022489.4(INF2):c.391+7C>T	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2947871	NM_022489.4(INF2):c.975G>A (p.Leu325=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2947834	NM_022489.4(INF2):c.1569C>T (p.Pro523=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2947602	NM_022489.4(INF2):c.17G>T (p.Gly6Val)	INF2 (G6V)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2947299	NM_022489.4(INF2):c.1177G>A (p.Ala393Thr)	INF2 (A393T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2946850	NM_022489.4(INF2):c.663T>C (p.Phe221=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2946784	NM_022489.4(INF2):c.844-17C>A	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2946523	NM_022489.4(INF2):c.2775+11C>G	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2946294	NM_022489.4(INF2):c.1010T>A (p.Val337Glu)	INF2 (V337E)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2946271	NM_022489.4(INF2):c.2691G>C (p.Leu897=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2945704	NM_022489.4(INF2):c.205C>T (p.Leu69=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2945696	NM_022489.4(INF2):c.3709T>A (p.Ser1237Thr)	INF2 (S1237T)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2945615	NM_022489.4(INF2):c.1921C>T (p.Leu641Phe)	INF2 (L641F)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2945611	NM_022489.4(INF2):c.2805G>A (p.Ala935=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2945516	NM_022489.4(INF2):c.1914C>G (p.Ser638Arg)	INF2 (S638R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2945338	NM_022489.4(INF2):c.391+8G>T	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2945248	NM_022489.4(INF2):c.985+5G>A	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2944964	NM_022489.4(INF2):c.1474C>T (p.Pro492Ser)	INF2 (P492S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2944778	NM_022489.4(INF2):c.1594G>A (p.Gly532Arg)	INF2 (G532R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2943886	NM_022489.4(INF2):c.3198G>A (p.Glu1066=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2943595	NM_022489.4(INF2):c.638C>A (p.Ala213Glu)	INF2 (A213E)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2942827	NM_022489.4(INF2):c.3080C>G (p.Thr1027Arg)	INF2 (T1027R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2942671	NM_022489.4(INF2):c.1949+1G>A	INF2, LOC130056630	Single nucleotide variant (splice donor variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2942611	NM_022489.4(INF2):c.3159G>C (p.Val1053=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2942360	NM_022489.4(INF2):c.333G>A (p.Ser111=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2942342	NM_022489.4(INF2):c.2008G>T (p.Glu670Ter)	INF2 (E670*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2942289	NM_022489.4(INF2):c.1888-16G>A	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2942145	NM_022489.4(INF2):c.3402C>G (p.Pro1134=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2941617	NM_022489.4(INF2):c.228G>C (p.Leu76=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2941571	NM_022489.4(INF2):c.1093G>A (p.Asp365Asn)	INF2 (D365N)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2941148	NM_022489.4(INF2):c.3040+19G>T	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2941137	NM_022489.4(INF2):c.1905C>A (p.Ala635=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2941050	NM_022489.4(INF2):c.2524T>C (p.Ser842Pro)	INF2 (S842P)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2941017	NM_022489.4(INF2):c.3036G>A (p.Glu1012=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2940681	NM_022489.4(INF2):c.849C>T (p.Ser283=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2940489	NM_022489.4(INF2):c.2879-8C>T	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2940363	NM_022489.4(INF2):c.2554C>T (p.Arg852Trp)	INF2 (R852W)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2940175	NM_022489.4(INF2):c.446C>T (p.Ala149Val)	INF2 (A149V)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2939975	NM_022489.4(INF2):c.220C>G (p.Leu74Val)	INF2 (L74V)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2939621	NM_022489.4(INF2):c.1366A>G (p.Thr456Ala)	INF2 (T456A)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2939575	NM_022489.4(INF2):c.1243G>A (p.Glu415Lys)	INF2 (E415K)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2939511	NM_022489.4(INF2):c.2768C>T (p.Ala923Val)	INF2 (A923V)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2939391	NM_022489.4(INF2):c.2203C>T (p.Arg735Trp)	INF2 (R735W)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2939233	NM_022489.4(INF2):c.1864C>T (p.Arg622Trp)	INF2 (R622W)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2939167	NM_022489.4(INF2):c.3356A>G (p.Asn1119Ser)	INF2 (N1119S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2938969	NM_022489.4(INF2):c.258C>T (p.Gly86=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2938778	NM_022489.4(INF2):c.2900AGG[2] (p.Glu969del)	INF2 (E969del)	Microsatellite (inframe_deletion +1 more)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2938720	NM_022489.4(INF2):c.2052+17del	INF2	Deletion (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GBenign
Select item 2938652	NM_022489.4(INF2):c.3041-15T>C	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2938489	NM_022489.4(INF2):c.51G>A (p.Lys17=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2938322	NM_022489.4(INF2):c.2778G>C (p.Glu926Asp)	INF2 (E926D)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2938318	NM_022489.4(INF2):c.1950-15C>T	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2938231	NM_022489.4(INF2):c.2418+9T>C	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2938086	NM_022489.4(INF2):c.2878+13C>T	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2938023	NM_022489.4(INF2):c.483C>T (p.Thr161=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2937879	NM_022489.4(INF2):c.2311-3del	INF2	Deletion (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2937870	NM_022489.4(INF2):c.2418+17G>A	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2937854	NM_022489.4(INF2):c.793G>A (p.Gly265Arg)	INF2 (G265R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2937684	NM_022489.4(INF2):c.346G>A (p.Glu116Lys)	INF2 (E116K)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2937550	NM_022489.4(INF2):c.985+11G>A	INF2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2937319	NM_022489.4(INF2):c.1044C>T (p.Pro348=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign

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