"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 254978	NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg)	COL4A3, MFF-DT (G43R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +4 more	GBenign
Select item 254981	NM_000091.5(COL4A3):c.144+12C>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Alport syndrome +4 more	GBenign
Select item 1288409	NM_000091.5(COL4A3):c.280-41_280-40insG	COL4A3, MFF-DT	Insertion (intron variant)	not specified +1 more	GBenign
Select item 1172950	NM_000091.5(COL4A3):c.324+73C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 254996	NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro)	COL4A3, MFF-DT (L141P)	Single nucleotide variant (missense variant)	Alport syndrome +4 more	GBenign
Select item 1172968	NM_000091.5(COL4A3):c.442-88A>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 255001	NM_000091.5(COL4A3):c.485A>G (p.Glu162Gly)	COL4A3, MFF-DT (E162G)	Single nucleotide variant (missense variant)	Alport syndrome +4 more	GBenign
Select item 1172971	NM_000091.5(COL4A3):c.765+49T>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +2 more	GBenign
Select item 1172972	NM_000091.5(COL4A3):c.828+59C>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +2 more	GBenign
Select item 682614	NM_000091.5(COL4A3):c.888+30G>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +2 more	GBenign
Select item 255010	NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr)	COL4A3, MFF-DT (D326Y)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +4 more	GBenign
Select item 682502	NM_000091.5(COL4A3):c.987+35T>G	MFF-DT, COL4A3	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +2 more	GBenign
Select item 1228753	NM_000091.5(COL4A3):c.1114+109A>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 254976	NM_000091.5(COL4A3):c.1195C>T (p.Leu399=)	MFF-DT, COL4A3	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +4 more	GBenign
Select item 254977	NM_000091.5(COL4A3):c.1223G>A (p.Arg408His)	MFF-DT, COL4A3 (R408H)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +4 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 254982	NM_000091.5(COL4A3):c.1452G>A (p.Gly484=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +5 more	GBenign/Likely benign
Select item 254985	NM_000091.5(COL4A3):c.1721C>T (p.Pro574Leu)	COL4A3, MFF-DT (P574L)	Single nucleotide variant (missense variant)	Alport syndrome +3 more	GBenign
Select item 1172990	NM_000091.5(COL4A3):c.2375-66C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +2 more	GBenign
Select item 1172991	NM_000091.5(COL4A3):c.2881+46A>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 3255274	NM_000091.5(COL4A3):c.3337+385T>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1172993	NM_000091.5(COL4A3):c.4154-69C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign

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Items: 22