"3billion"[submitter] AND "COL4A5"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1456164	NM_033380.3(COL4A5):c.153del (p.Pro53fs)	COL4A5 (P53fs)	Deletion (frameshift variant)	X-linked Alport syndrome +1 more	GPathogenic
Select item 2572406	NM_033380.3(COL4A5):c.439G>C (p.Gly147Arg)	COL4A5 (G147R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1053912	NM_033380.3(COL4A5):c.476G>A (p.Gly159Asp)	COL4A5 (G159D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1705311	NM_033380.3(COL4A5):c.511G>T (p.Gly171Cys)	COL4A5 (G171C)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1687242	NM_033380.3(COL4A5):c.548G>A (p.Gly183Asp)	COL4A5 (G183D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1705722	NM_033380.3(COL4A5):c.609+5G>A	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GUncertain significance
Select item 2138685	NM_033380.3(COL4A5):c.638G>A (p.Gly213Glu)	COL4A5 (G213E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GLikely pathogenic
Select item 587140	NM_033380.3(COL4A5):c.698G>T (p.Gly233Val)	COL4A5 (G233V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2572457	NM_033380.3(COL4A5):c.770_776del (p.Lys257fs)	COL4A5 (K257fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1333481	NM_033380.3(COL4A5):c.864G>A (p.Lys288=)	COL4A5	Single nucleotide variant (synonymous variant)	X-linked Alport syndrome	GUncertain significance
Select item 1705628	NM_033380.3(COL4A5):c.891_891+1del	COL4A5	Microsatellite (splice donor variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1455625	NM_033380.3(COL4A5):c.929G>A (p.Gly310Glu)	COL4A5 (G310E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2572496	NM_033380.3(COL4A5):c.938del	COL4A5	Deletion (splice acceptor variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1526147	NM_033380.3(COL4A5):c.991-7T>A	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GUncertain significance
Select item 1333642	NM_033380.3(COL4A5):c.1090C>T (p.Pro364Ser)	COL4A5 (P364S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 870363	NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg)	COL4A5 (G374R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1333248	NM_033380.3(COL4A5):c.1199G>A (p.Gly400Glu)	COL4A5 (G400E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1500867	NM_033380.3(COL4A5):c.1235G>A (p.Gly412Glu)	COL4A5 (G412E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2444109	NM_033380.3(COL4A5):c.1340-2A>G	COL4A5	Single nucleotide variant (splice acceptor variant)	X-linked Alport syndrome	GPathogenic
Select item 804072	NM_033380.3(COL4A5):c.1588-10C>G	COL4A5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2444297	NM_033380.3(COL4A5):c.1634G>A (p.Gly545Asp)	COL4A5 (G545D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1705414	NM_033380.3(COL4A5):c.1825G>T (p.Gly609Cys)	COL4A5 (G609C)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 1687202	NM_033380.3(COL4A5):c.2086G>C (p.Gly696Arg)	COL4A5 (G696R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 586956	NM_033380.3(COL4A5):c.2332G>C (p.Gly778Arg)	COL4A5 (G778R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2444150	NM_033380.3(COL4A5):c.2422G>A (p.Gly808Arg)	COL4A5 (G808R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1333485	NM_033380.3(COL4A5):c.2440G>A (p.Gly814Arg)	COL4A5 (G814R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1705461	NM_033380.3(COL4A5):c.2474del (p.Gly825fs)	COL4A5 (G825fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 24543	NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)	COL4A5 (G869R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1705496	NM_033380.3(COL4A5):c.2732G>A (p.Gly911Glu)	COL4A5 (G911E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1705447	NM_033380.3(COL4A5):c.3053G>A (p.Gly1018Asp)	COL4A5 (G1018D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1705345	NM_033380.3(COL4A5):c.3142G>A (p.Gly1048Arg)	COL4A5 (G1048R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 1333704	NM_033380.3(COL4A5):c.3181C>T (p.Gln1061Ter)	COL4A5 (Q1061*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GPathogenic
Select item 2027621	NM_033380.3(COL4A5):c.3393_3419del (p.Pro1132_Gly1140del)	COL4A5	Deletion (inframe_deletion)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2444221	NM_033380.3(COL4A5):c.3499_3504del (p.Gly1167_Lys1168del)	COL4A5	Deletion (inframe_deletion)	X-linked Alport syndrome	GUncertain significance
Select item 1333397	NM_033380.3(COL4A5):c.3634dup (p.Ile1212fs)	COL4A5 (I1212fs)	Duplication (frameshift variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2444414	NM_033380.3(COL4A5):c.4417C>T (p.His1473Tyr)	COL4A5 (H1467Y +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
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
Select item 829935	NM_033380.3(COL4A5):c.4749_4750del (p.His1583fs)	COL4A5 (H1583fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic

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Items: 38