"Revvity Omics, Revvity"[submitter] AND "COL4A4"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1324121	NM_000092.5(COL4A4):c.4548_4549del (p.Val1516_Phe1517insTer)	COL4A4	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1017229	NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr)	COL4A4 (C1513Y)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2440321	NM_000092.5(COL4A4):c.4346C>G (p.Pro1449Arg)	COL4A4 (P1449R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440320	NM_000092.5(COL4A4):c.4091-12T>C	COL4A4	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1324120	NM_000092.5(COL4A4):c.3973G>T (p.Gly1325Ter)	COL4A4 (G1325*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 966572	NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter)	COL4A4 (Y1311*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome +3 more	GPathogenic/Likely pathogenic
Select item 2200293	NM_000092.5(COL4A4):c.3676C>T (p.Arg1226Cys)	COL4A4 (R1226C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1517277	NM_000092.5(COL4A4):c.3452G>C (p.Gly1151Ala)	COL4A4 (G1151A)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2439392	NM_000092.5(COL4A4):c.3154G>T (p.Glu1052Ter)	COL4A4 (E1052*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 449549	NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter)	COL4A4 (S969*)	Single nucleotide variant (nonsense)	Chronic kidney disease +4 more	GPathogenic
Select item 2439384	NM_000092.5(COL4A4):c.2699del (p.Gly900fs)	COL4A4 (G900fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1114838	NM_000092.5(COL4A4):c.2629C>T (p.Arg877Trp)	COL4A4 (R877W)	Single nucleotide variant (missense variant)	Benign familial hematuria +1 more	GConflicting classifications of pathogenicity
Select item 2440319	NM_000092.5(COL4A4):c.1756C>A (p.His586Asn)	COL4A4 (H586N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585525	NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser)	COL4A4 (G481S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 422613	NM_000092.5(COL4A4):c.1203A>G (p.Ala401=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1683968	NM_000092.5(COL4A4):c.1074G>C (p.Leu358Phe)	COL4A4 (L358F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447196	NM_000092.5(COL4A4):c.914_930+29del	COL4A4	Deletion (splice donor variant)	Autosomal recessive Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1031388	NM_000092.5(COL4A4):c.865C>T (p.Arg289Cys)	COL4A4 (R289C)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1324122	NM_000092.5(COL4A4):c.784_790del (p.Pro262fs)	COL4A4 (P262fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1308183	NM_000092.5(COL4A4):c.110A>G (p.Tyr37Cys)	COL4A4 (Y37C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 369962	NM_000092.5(COL4A4):c.81_86del (p.27IL[1])	COL4A4	Deletion (inframe_deletion)	not provided +4 more	GConflicting classifications of pathogenicity

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Items: 21