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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1548560	NM_033380.3(COL4A5):c.66G>A (p.Gln22=)	COL4A5	Single nucleotide variant (synonymous variant)	Kidney disorder +1 more	GConflicting classifications of pathogenicity
Select item 1712420	NM_033380.3(COL4A5):c.465G>A (p.Lys155=)	COL4A5	Single nucleotide variant (synonymous variant)	Kidney disorder	GUncertain significance
Select item 24398	NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser)	COL4A5 (I444S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 24469	NM_033380.3(COL4A5):c.1992G>T (p.Lys664Asn)	COL4A5 (K664N)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +3 more	GBenign
Select item 24573	NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val)	COL4A5 (G953V)	Single nucleotide variant (missense variant)	Kidney disorder +3 more	GConflicting classifications of pathogenicity
Select item 707019	NM_033380.3(COL4A5):c.3029A>G (p.Asn1010Ser)	COL4A5 (N1010S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 256280	NM_033380.3(COL4A5):c.3519T>G (p.Gly1173=)	COL4A5	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1712353	NM_033380.3(COL4A5):c.4184dup (p.Pro1396fs)	COL4A5 (P1390fs +1 more)	Duplication (frameshift variant)	Kidney disorder	GLikely pathogenic
Select item 666622	NM_033380.3(COL4A5):c.4500A>G (p.Gly1500=)	COL4A5	Single nucleotide variant (synonymous variant)	Kidney disorder +2 more	GBenign/Likely benign
Select item 1142457	NM_033380.3(COL4A5):c.4659G>A (p.Met1553Ile)	COL4A5 (M1547I +1 more)	Single nucleotide variant (missense variant)	Kidney disorder +1 more	GConflicting classifications of pathogenicity
Select item 24757	NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln)	COL4A5 (R1563Q +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +4 more	GPathogenic/Likely pathogenic