"Genome-Nilou Lab"[submitter] AND "COL4A5"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1185167	NM_033380.3(COL4A5):c.81+56C>A	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GLikely benign
Select item 499283	NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys)	COL4A5 (Y30C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1098425	NM_033380.3(COL4A5):c.137A>G (p.Glu46Gly)	COL4A5 (E46G)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely benign
Select item 1185168	NM_033380.3(COL4A5):c.276+69T>C	COL4A5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1185169	NM_033380.3(COL4A5):c.439-24A>T	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GLikely benign
Select item 587321	NM_033380.3(COL4A5):c.446del (p.Pro149fs)	COL4A5 (P149fs)	Deletion (frameshift variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 24296	NM_033380.3(COL4A5):c.609+21T>C	COL4A5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1177026	NM_033380.3(COL4A5):c.1033-72C>T	COL4A5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1177027	NM_033380.3(COL4A5):c.1587+136A>G	COL4A5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 24554	NM_033380.3(COL4A5):c.2692A>G (p.Met898Val)	COL4A5 (M898V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 24563	NM_033380.3(COL4A5):c.2768-11A>G	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome +2 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 1175714	NM_033380.3(COL4A5):c.3647C>T (p.Pro1216Leu)	COL4A5 (P1216L)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely benign
Select item 1210384	NM_033380.3(COL4A5):c.3940del (p.Gln1314fs)	COL4A5 (Q1308fs +1 more)	Deletion (frameshift variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 242725	NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys)	COL4A5 (R1422C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity