"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "INF2"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 648519	NC_000014.8:g.(?_105167683)_(105185180_?)dup	INF2, LOC130056630	Duplication	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 652975	NC_000014.9:g.(?_104701356)_(104703963_?)del	INF2	Deletion	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 1907325	NM_022489.4(INF2):c.6G>A (p.Ser2=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GBenign
Select item 2953871	NM_022489.4(INF2):c.14A>T (p.Glu5Val)	INF2 (E5V)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
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 757333	NM_022489.4(INF2):c.18C>T (p.Gly6=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GConflicting classifications of pathogenicity
Select item 1950794	NM_022489.4(INF2):c.26G>C (p.Arg9Pro)	INF2 (R9P)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 1903886	NM_022489.4(INF2):c.26G>T (p.Arg9Leu)	INF2 (R9L)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GConflicting classifications of pathogenicity
Select item 962106	NM_022489.4(INF2):c.34G>A (p.Ala12Thr)	INF2 (A12T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 312676	NM_022489.4(INF2):c.37G>A (p.Ala13Thr)	INF2 (A13T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 261625	NM_022489.4(INF2):c.42G>A (p.Leu14=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +4 more	GBenign
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 2922671	NM_022489.4(INF2):c.54G>A (p.Leu18=)	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 857212	NM_022489.4(INF2):c.67T>G (p.Ser23Ala)	INF2 (S23A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 246272	NM_022489.4(INF2):c.67T>A (p.Ser23Thr)	INF2 (S23T)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 2050106	NM_022489.4(INF2):c.69G>A (p.Ser23=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 1006945	NM_022489.4(INF2):c.76A>C (p.Thr26Pro)	INF2 (T26P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1052793	NM_022489.4(INF2):c.77C>T (p.Thr26Met)	INF2 (T26M)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2109247	NM_022489.4(INF2):c.83C>T (p.Ala28Val)	INF2 (A28V)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2156898	NM_022489.4(INF2):c.93G>A (p.Glu31=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GLikely benign
Select item 1979056	NM_022489.4(INF2):c.96C>A (p.Ser32Arg)	INF2 (S32R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 1638434	NM_022489.4(INF2):c.96C>T (p.Ser32=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GLikely benign
Select item 2936506	NM_022489.4(INF2):c.99G>A (p.Ala33=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2155733	NM_022489.4(INF2):c.99G>C (p.Ala33=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 1153066	NM_022489.4(INF2):c.102C>T (p.Asp34=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 261603	NM_022489.4(INF2):c.105C>T (p.Pro35=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +3 more	GBenign
Select item 2128885	NM_022489.4(INF2):c.111G>A (p.Leu37=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GLikely benign
Select item 705466	NM_022489.4(INF2):c.118C>A (p.Arg40=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 1020561	NM_022489.4(INF2):c.119G>C (p.Arg40Pro)	INF2 (R40P)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2932726	NM_022489.4(INF2):c.134C>T (p.Pro45Leu)	INF2 (P45L)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 937237	NM_022489.4(INF2):c.137C>T (p.Ser46Phe)	INF2 (S46F)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 472837	NM_022489.4(INF2):c.148T>G (p.Tyr50Asp)	INF2 (Y50D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GPathogenic
Select item 540048	NM_022489.4(INF2):c.150C>A (p.Tyr50Ter)	INF2 (Y50*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease dominant intermediate E +2 more	GUncertain significance
Select item 1093198	NM_022489.4(INF2):c.168C>A (p.Arg56=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 637700	NM_022489.4(INF2):c.170T>C (p.Leu57Pro)	INF2 (L57P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GPathogenic
Select item 1001718	NM_022489.4(INF2):c.181G>C (p.Asp61His)	INF2 (D61H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 472840	NM_022489.4(INF2):c.186C>T (p.Gly62=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +2 more	GLikely benign
Select item 848707	NM_022489.4(INF2):c.188_208del (p.Gly63_Leu69del)	INF2	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 1487843	NM_022489.4(INF2):c.188G>A (p.Gly63Asp)	INF2 (G63D)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 1992962	NM_022489.4(INF2):c.200A>G (p.Gln67Arg)	INF2 (Q67R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 1022806	NM_022489.4(INF2):c.210_224dup (p.Glu70_Leu74dup)	INF2	Duplication (inframe_insertion)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
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 1999164	NM_022489.4(INF2):c.218G>A (p.Gly73Asp)	INF2 (G73D)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely pathogenic
Select item 472842	NM_022489.4(INF2):c.218G>T (p.Gly73Val)	INF2 (G73V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +2 more	GPathogenic/Likely pathogenic
Select item 1603474	NM_022489.4(INF2):c.219C>T (p.Gly73=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
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 572389	NM_022489.4(INF2):c.221T>G (p.Leu74Arg)	INF2 (L74R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 976701	NM_022489.4(INF2):c.226CTG[2] (p.Leu78del)	INF2 (L78del)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GConflicting classifications of pathogenicity
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 743964	NM_022489.4(INF2):c.229C>T (p.Leu77=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 637707	NM_022489.4(INF2):c.230T>C (p.Leu77Pro)	INF2 (L77P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GPathogenic
Select item 1160348	NM_022489.4(INF2):c.232C>T (p.Leu78=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 857188	NM_022489.4(INF2):c.233T>A (p.Leu78Gln)	INF2 (L78Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 1092741	NM_022489.4(INF2):c.237G>A (p.Glu79=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 757849	NM_022489.4(INF2):c.246G>A (p.Ala82=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GLikely benign
Select item 864217	NM_022489.4(INF2):c.251T>C (p.Leu84Pro)	INF2 (L84P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 1587753	NM_022489.4(INF2):c.255G>C (p.Ser85=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 1148211	NM_022489.4(INF2):c.255G>T (p.Ser85=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 998429	NM_022489.4(INF2):c.255G>A (p.Ser85=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 618181	NM_022489.4(INF2):c.257G>T (p.Gly86Val)	INF2 (G86V)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +2 more	GUncertain significance
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 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 472843	NM_022489.4(INF2):c.261C>T (p.Arg87=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +2 more	GLikely benign
Select item 1354336	NM_022489.4(INF2):c.262G>T (p.Gly88Cys)	INF2 (G88C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 863277	NM_022489.4(INF2):c.262G>A (p.Gly88Ser)	INF2 (G88S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +2 more	GUncertain significance
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 540062	NM_022489.4(INF2):c.264C>T (p.Gly88=)	INF2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 540051	NM_022489.4(INF2):c.265G>A (p.Val89Ile)	INF2 (V89I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 2195621	NM_022489.4(INF2):c.270A>T (p.Ala90=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 1063428	NM_022489.4(INF2):c.271C>T (p.Arg91Cys)	INF2 (R91C)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 841546	NM_022489.4(INF2):c.271C>G (p.Arg91Gly)	INF2 (R91G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
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 1531294	NM_022489.4(INF2):c.276C>T (p.Ile92=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GLikely benign
Select item 1099631	NM_022489.4(INF2):c.279C>T (p.Ser93=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +2 more	GLikely benign
Select item 1035177	NM_022489.4(INF2):c.281A>G (p.Asp94Gly)	INF2 (D94G)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 2935858	NM_022489.4(INF2):c.283G>A (p.Ala95Thr)	INF2 (A95T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +2 more	GUncertain significance
Select item 2933523	NM_022489.4(INF2):c.285C>T (p.Ala95=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GConflicting classifications of pathogenicity
Select item 1112145	NM_022489.4(INF2):c.288G>C (p.Leu96=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2953912	NM_022489.4(INF2):c.290T>G (p.Leu97Arg)	INF2 (L97R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 760834	NM_022489.4(INF2):c.291G>T (p.Leu97=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GLikely benign
Select item 1612404	NM_022489.4(INF2):c.300C>T (p.Thr100=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2923991	NM_022489.4(INF2):c.303C>T (p.Cys101=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2121270	NM_022489.4(INF2):c.304G>C (p.Val102Leu)	INF2 (V102L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 1139940	NM_022489.4(INF2):c.306C>T (p.Val102=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GLikely benign
Select item 1103095	NM_022489.4(INF2):c.306C>G (p.Val102=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2159115	NM_022489.4(INF2):c.308G>C (p.Ser103Thr)	INF2 (S103T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GLikely benign
Select item 30864	NM_022489.4(INF2):c.310T>C (p.Cys104Arg)	INF2 (C104R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 30866	NM_022489.4(INF2):c.312C>G (p.Cys104Trp)	INF2 (C104W)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GPathogenic
Select item 472835	NM_022489.4(INF2):c.314T>A (p.Val105Glu)	INF2 (V105E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GLikely pathogenic
Select item 2926474	NM_022489.4(INF2):c.318C>T (p.Arg106=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 1006259	NM_022489.4(INF2):c.320_322del (p.Ala107del)	INF2 (A107del)	Deletion (inframe_deletion)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 1461964	NM_022489.4(INF2):c.322del (p.Val108fs)	INF2 (V108fs)	Deletion (frameshift variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 1489186	NM_022489.4(INF2):c.325A>T (p.Met109Leu)	INF2 (M109L)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
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 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 2921835	NM_022489.4(INF2):c.338A>T (p.Gln113Leu)	INF2 (Q113L)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 1034781	NM_022489.4(INF2):c.338A>G (p.Gln113Arg)	INF2 (Q113R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 637704	NM_022489.4(INF2):c.341G>A (p.Gly114Asp)	INF2 (G114D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GPathogenic
Select item 1363986	NM_022489.4(INF2):c.344T>G (p.Ile115Ser)	INF2 (I115S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance

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