"Sydney Genome Diagnostics, Children's Hospital Westmead"[submitter] A - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 988116	NM_033380.3(COL4A5):c.276+2dup	COL4A5	Duplication (splice donor variant)	Alport syndrome	GLikely pathogenic
Select item 988183	NM_033380.3(COL4A5):c.434C>T (p.Pro145Leu)	COL4A5 (P145L)	Single nucleotide variant (missense variant)	Alport syndrome	GUncertain significance
Select item 988257	NM_033380.3(COL4A5):c.438+1_438+3dup	COL4A5	Duplication (splice donor variant)	Alport syndrome	GLikely pathogenic
Select item 24312	NM_033380.3(COL4A5):c.687+1G>A	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GPathogenic
Select item 988115	NM_033380.3(COL4A5):c.757delinsCT (p.Val253fs)	COL4A5 (V253fs)	Indel (frameshift variant)	Alport syndrome	GPathogenic
Select item 24325	NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter)	COL4A5 (R266*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 24336	NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp)	COL4A5 (G295D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 988153	NM_033380.3(COL4A5):c.1033-3A>G	COL4A5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 587120	NM_033380.3(COL4A5):c.1166-1G>A	COL4A5	Single nucleotide variant (splice acceptor variant)	Alport syndrome	GPathogenic
Select item 24386	NM_033380.3(COL4A5):c.1226G>A (p.Gly409Asp)	COL4A5 (G409D)	Single nucleotide variant (missense variant)	COL4A5-related condition +2 more	GPathogenic
Select item 24419	NM_033380.3(COL4A5):c.1498G>C (p.Gly500Arg)	COL4A5 (G500R)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 988118	NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg)	COL4A5 (G509R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 988155	NM_033380.3(COL4A5):c.1532del (p.Pro511fs)	COL4A5 (P511fs)	Deletion (frameshift variant)	Alport syndrome	GLikely pathogenic
Select item 24432	NM_033380.3(COL4A5):c.1643G>A (p.Gly548Asp)	COL4A5 (G548D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 988184	NM_033380.3(COL4A5):c.1763_1779+3del	COL4A5	Deletion (splice donor variant)	Alport syndrome	GPathogenic
Select item 807573	NM_033380.3(COL4A5):c.1807G>A (p.Gly603Ser)	COL4A5 (G603S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 844422	NM_033380.3(COL4A5):c.1815del (p.Asn607fs)	COL4A5 (N607fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 24455	NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	COL4A5 (G624D)	Single nucleotide variant (missense variant)	COL4A5-related condition +5 more	GPathogenic/Likely pathogenic
Select item 587191	NM_033380.3(COL4A5):c.1922G>A (p.Gly641Glu)	COL4A5 (G641E)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 988154	NM_033380.3(COL4A5):c.2042-2A>C	COL4A5	Single nucleotide variant (splice acceptor variant)	Alport syndrome	GLikely pathogenic
Select item 988156	NM_033380.3(COL4A5):c.2129G>A (p.Gly710Glu)	COL4A5 (G710E)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 988110	NM_033380.3(COL4A5):c.2201del (p.Gly734fs)	COL4A5 (G734fs)	Deletion (frameshift variant)	Alport syndrome	GPathogenic
Select item 988254	NM_033380.3(COL4A5):c.2329C>T (p.Arg777Cys)	COL4A5 (R777C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 988111	NM_033380.3(COL4A5):c.2344_2345insG (p.Pro782fs)	COL4A5 (P782fs)	Insertion (frameshift variant)	Nephrotic syndrome	GLikely pathogenic
Select item 988185	NM_033380.3(COL4A5):c.2387G>A (p.Gly796Glu)	COL4A5 (G796E)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GPathogenic
Select item 24543	NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)	COL4A5 (G869R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 968858	NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu)	COL4A5 (G878E)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 988158	NM_033380.3(COL4A5):c.2678G>C (p.Gly893Ala)	COL4A5 (G893A)	Single nucleotide variant (missense variant)	Alport syndrome	GPathogenic
Select item 522413	NM_033380.3(COL4A5):c.2686G>A (p.Gly896Ser)	COL4A5 (G896S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 988182	NM_033380.3(COL4A5):c.3262C>T (p.Pro1088Ser)	COL4A5 (P1088S)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GUncertain significance
Select item 988114	NM_033380.3(COL4A5):c.3310G>C (p.Gly1104Arg)	COL4A5 (G1104R)	Single nucleotide variant (missense variant)	Alport syndrome	GPathogenic
Select item 988180	NM_033380.3(COL4A5):c.3374-1G>A	COL4A5	Single nucleotide variant (splice acceptor variant)	Alport syndrome	GPathogenic
Select item 988256	NM_033380.3(COL4A5):c.3556C>T (p.Gln1186Ter)	COL4A5 (Q1186*)	Single nucleotide variant (nonsense)	Alport syndrome	GPathogenic
Select item 24662	NM_033380.3(COL4A5):c.3632G>A (p.Gly1211Glu)	COL4A5 (G1211E)	Single nucleotide variant (missense variant)	Alport syndrome	GPathogenic
Select item 988157	NM_033380.3(COL4A5):c.3883C>T (p.Gln1295Ter)	COL4A5 (Q1289* +1 more)	Single nucleotide variant (nonsense)	Alport syndrome	GPathogenic
Select item 988112	NM_033380.3(COL4A5):c.3942+2T>C	COL4A5	Single nucleotide variant (splice donor variant)	Alport syndrome	GPathogenic
Select item 988117	NM_033380.3(COL4A5):c.4291_4297delinsCT (p.Asp1431fs)	COL4A5 (D1425fs +1 more)	Indel (frameshift variant)	Alport syndrome	GLikely pathogenic
Select item 988186	NM_033380.3(COL4A5):c.4376dup (p.Gly1460fs)	COL4A5 (G1454fs +1 more)	Duplication (frameshift variant)	Alport syndrome	GPathogenic
Select item 988113	NM_033380.3(COL4A5):c.4529-11A>G	COL4A5	Single nucleotide variant (intron variant)	Nephrotic syndrome	GUncertain significance
Select item 24755	NM_033380.3(COL4A5):c.4705C>T (p.Arg1569Ter)	COL4A5 (R1563* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 988255	NM_033380.3(COL4A5):c.4769C>A (p.Pro1590His)	COL4A5 (P1584H +1 more)	Single nucleotide variant (missense variant)	Alport syndrome	GPathogenic
Select item 10467	NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)	COL4A5 (R1677Q +1 more)	Single nucleotide variant (missense variant)	COL4A5-related condition +2 more	GPathogenic/Likely pathogenic
Select item 988152	NM_033380.3(COL4A5):c.5074T>A (p.Ter1692Lys)	COL4A5	Single nucleotide variant (stop lost)	Alport syndrome	GUncertain significance

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Items: 43