"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 705453	NM_022489.4(INF2):c.354C>T (p.Ile118=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +2 more	GLikely benign
Select item 261624	NM_022489.4(INF2):c.391+6C>T	INF2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1712412	NM_022489.4(INF2):c.451T>C (p.Cys151Arg)	INF2 (C151R)	Single nucleotide variant (missense variant)	Kidney disorder	GLikely pathogenic
Select item 1698961	NM_022489.4(INF2):c.607G>A (p.Ala203Thr)	INF2 (A203T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GUncertain significance
Select item 1112132	NM_022489.4(INF2):c.636C>T (p.Arg212=)	INF2	Single nucleotide variant (synonymous variant)	Kidney disorder +2 more	GConflicting classifications of pathogenicity
Select item 1053	NM_022489.4(INF2):c.641G>A (p.Arg214His)	INF2 (R214H)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +2 more	GPathogenic/Likely pathogenic
Select item 1051	NM_022489.4(INF2):c.653G>A (p.Arg218Gln)	INF2 (R218Q)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +4 more	GPathogenic/Likely pathogenic
Select item 507967	NM_022489.4(INF2):c.798C>G (p.Val266=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +4 more	GLikely benign
Select item 261629	NM_022489.4(INF2):c.879G>A (p.Ser293=)	INF2	Single nucleotide variant (synonymous variant)	Kidney disorder +5 more	GConflicting classifications of pathogenicity
Select item 312687	NM_022489.4(INF2):c.1262CACCCC[3] (p.Pro427_Pro428del)	INF2	Microsatellite (inframe_deletion)	Focal segmental glomerulosclerosis +2 more	GConflicting classifications of pathogenicity
Select item 1191639	NM_022489.4(INF2):c.1377G>C (p.Pro459=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +1 more	GLikely benign
Select item 383168	NM_022489.4(INF2):c.1452T>C (p.Cys484=)	INF2	Single nucleotide variant (synonymous variant)	Kidney disorder +5 more	GBenign/Likely benign
Select item 1137635	NM_022489.4(INF2):c.1458C>T (p.Phe486=)	INF2	Single nucleotide variant (synonymous variant)	Kidney disorder +3 more	GConflicting classifications of pathogenicity
Select item 1712418	NM_022489.4(INF2):c.1812A>T (p.Arg604=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +2 more	GConflicting classifications of pathogenicity
Select item 1169518	NM_022489.4(INF2):c.1929C>T (p.Ile643=)	INF2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +2 more	GBenign/Likely benign
Select item 540042	NM_022489.4(INF2):c.1957G>A (p.Glu653Lys)	INF2 (E653K)	Single nucleotide variant (missense variant)	Kidney disorder +4 more	GConflicting classifications of pathogenicity
Select item 261607	NM_022489.4(INF2):c.2322C>T (p.Thr774=)	INF2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 261609	NM_022489.4(INF2):c.2571C>T (p.Ser857=)	INF2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 312703	NM_022489.4(INF2):c.2848C>T (p.Arg950Trp)	INF2 (R950W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +4 more	GBenign/Likely benign
Select item 1712478	NM_022489.4(INF2):c.2892C>T (p.Pro964=)	INF2	Single nucleotide variant (synonymous variant)	Kidney disorder	GUncertain significance
Select item 472848	NM_022489.4(INF2):c.2999G>A (p.Ser1000Asn)	INF2 (S1000N)	Single nucleotide variant (missense variant)	Kidney disorder +3 more	GBenign/Likely benign
Select item 261614	NM_022489.4(INF2):c.3069C>T (p.Pro1023=)	INF2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 312706	NM_022489.4(INF2):c.3134G>A (p.Arg1045Gln)	INF2 (R1045Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 261616	NM_022489.4(INF2):c.3153C>T (p.Asp1051=)	INF2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 1712425	NM_022489.4(INF2):c.3154G>A (p.Ala1052Thr)	INF2 (A1052T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 261620	NM_022489.4(INF2):c.3404C>T (p.Thr1135Met)	INF2 (T1135M)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 1613447	NM_022489.4(INF2):c.3435C>T (p.Ala1145=)	INF2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate E +2 more	GLikely benign
Select item 312709	NM_022489.4(INF2):c.3478G>A (p.Gly1160Ser)	INF2 (G1160S)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign

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Items: 29