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

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 255008	NM_000091.5(COL4A3):c.88-4C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Alport syndrome +3 more	GBenign
Select item 254994	NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr)	MFF-DT, COL4A3 (P116T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +4 more	GBenign/Likely benign
Select item 334756	NM_000091.5(COL4A3):c.399G>A (p.Gly133=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +5 more	GBenign
Select item 1703962	NM_000091.5(COL4A3):c.440C>T (p.Pro147Leu)	COL4A3, MFF-DT (P147L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 255003	NM_000091.5(COL4A3):c.547-9A>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Alport syndrome +3 more	GBenign
Select item 254979	NM_000091.5(COL4A3):c.1352A>G (p.His451Arg)	COL4A3, MFF-DT (H451R)	Single nucleotide variant (missense variant)	Alport syndrome +4 more	GBenign/Likely benign
Select item 369964	NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)	COL4A3, MFF-DT (G695R)	Single nucleotide variant (missense variant)	not specified +5 more	GPathogenic/Likely pathogenic
Select item 334767	NM_000091.5(COL4A3):c.2489-8G>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 254987	NM_000091.5(COL4A3):c.2501A>G (p.Lys834Arg)	COL4A3, MFF-DT (K834R)	Single nucleotide variant (missense variant)	Alport syndrome +3 more	GBenign
Select item 1712416	NM_000091.5(COL4A3):c.2656+1G>T	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	Kidney disorder +1 more	GLikely pathogenic
Select item 254988	NM_000091.5(COL4A3):c.2715C>T (p.Pro905=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Alport syndrome +3 more	GBenign/Likely benign
Select item 764747	NM_000091.5(COL4A3):c.3210+8G>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Kidney disorder +1 more	GConflicting classifications of pathogenicity
Select item 254993	NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser)	COL4A3, MFF-DT (P1109S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 508705	NM_000091.5(COL4A3):c.3627G>A (p.Met1209Ile)	COL4A3, MFF-DT (M1209I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 254995	NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu)	COL4A3, MFF-DT (D1269E)	Single nucleotide variant (missense variant)	Alport syndrome +4 more	GBenign
Select item 334780	NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu)	COL4A3, MFF-DT (D1347E)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 501978	NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val)	MFF-DT, COL4A3 (A1482V)	Single nucleotide variant (missense variant)	Kidney disorder +3 more	GConflicting classifications of pathogenicity
Select item 254998	NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg)	COL4A3, MFF-DT (Q1495R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +6 more	GBenign/Likely benign
Select item 255000	NM_000091.5(COL4A3):c.4707A>T (p.Pro1569=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign