C4746986[trait identifier] AND "Precision Medicine Center, Zhengzhou U - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2681731	NM_033380.3(COL4A5):c.81+2dup	COL4A5	Duplication (splice donor variant)	X-linked Alport syndrome	GPathogenic
Select item 1067481	NM_033380.3(COL4A5):c.151G>A (p.Gly51Arg)	COL4A5 (G51R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GLikely pathogenic
Select item 2681737	NM_033380.3(COL4A5):c.276+3A>C	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1077055	NM_033380.3(COL4A5):c.322-1G>T	COL4A5	Single nucleotide variant (splice acceptor variant)	X-linked Alport syndrome	GPathogenic
Select item 1077037	NM_033380.3(COL4A5):c.439-1G>A	COL4A5	Single nucleotide variant (splice acceptor variant)	X-linked Alport syndrome	GPathogenic
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 1077054	NM_033380.3(COL4A5):c.539G>A (p.Gly180Glu)	COL4A5 (G180E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 24292	NM_033380.3(COL4A5):c.584G>A (p.Gly195Asp)	COL4A5 (G195D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 1077044	NM_033380.3(COL4A5):c.670G>A (p.Gly224Arg)	COL4A5 (G224R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1725442	NM_033380.3(COL4A5):c.703C>T (p.Gln235Ter)	COL4A5 (Q235*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GLikely pathogenic
Select item 1077058	NM_033380.3(COL4A5):c.891+5G>A	COL4A5	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1077048	NM_033380.3(COL4A5):c.937G>T (p.Gly313Cys)	COL4A5 (G313C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 222058	NM_033380.3(COL4A5):c.1033-6A>G	COL4A5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1077047	NM_033380.3(COL4A5):c.1033-2A>G	COL4A5	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 24367	NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter)	COL4A5 (R373*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2681735	NM_033380.3(COL4A5):c.1207G>A (p.Gly403Arg)	COL4A5 (G403R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 24386	NM_033380.3(COL4A5):c.1226G>A (p.Gly409Asp)	COL4A5 (G409D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2681782	NM_033380.3(COL4A5):c.1303G>C (p.Gly435Arg)	COL4A5 (G435R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 1077050	NM_033380.3(COL4A5):c.1480G>T (p.Gly494Cys)	COL4A5 (G494C)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 1077043	NM_033380.3(COL4A5):c.1871G>T (p.Gly624Val)	COL4A5 (G624V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1077049	NM_033380.3(COL4A5):c.1930G>T (p.Gly644Cys)	COL4A5 (G644C)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1077046	NM_033380.3(COL4A5):c.2146G>A (p.Gly716Ser)	COL4A5 (G716S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 587146	NM_033380.3(COL4A5):c.2237G>A (p.Gly746Glu)	COL4A5 (G746E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 24503	NM_033380.3(COL4A5):c.2288G>A (p.Gly763Glu)	COL4A5 (G763E)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1045646	NM_033380.3(COL4A5):c.2330G>C (p.Arg777Pro)	COL4A5 (R777P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1077045	NM_033380.3(COL4A5):c.2395+3A>G	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2681733	NM_033380.3(COL4A5):c.2567del (p.Pro856fs)	COL4A5 (P856fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 24541	NM_033380.3(COL4A5):c.2597G>A (p.Gly866Glu)	COL4A5 (G866E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2681734	NM_033380.3(COL4A5):c.3078dup (p.Gly1027fs)	COL4A5 (G1027fs)	Duplication (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 1077057	NM_033380.3(COL4A5):c.3311G>A (p.Gly1104Asp)	COL4A5 (G1104D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 24666	NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp)	COL4A5 (G1220D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1077053	NM_033380.3(COL4A5):c.3670G>T (p.Glu1224Ter)	COL4A5 (E1224*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GPathogenic
Select item 1077052	NM_033380.3(COL4A5):c.3791G>T (p.Gly1264Val)	COL4A5 (G1264V)	Single nucleotide variant (missense variant +1 more)	X-linked Alport syndrome	GLikely pathogenic
Select item 1077059	NM_033380.3(COL4A5):c.3817G>A (p.Gly1273Ser)	COL4A5 (G1267S +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 447208	NM_033380.3(COL4A5):c.3958C>T (p.Pro1320Ser)	COL4A5 (P1314S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1077051	NM_033380.3(COL4A5):c.4528G>C (p.Gly1510Arg)	COL4A5 (G1504R +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 2681730	NM_033380.3(COL4A5):c.4528+1G>C	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GPathogenic
Select item 2681732	NM_033380.3(COL4A5):c.4529-1G>C	COL4A5	Single nucleotide variant (splice acceptor variant)	X-linked Alport syndrome	GPathogenic
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 1073265	NM_033380.3(COL4A5):c.4706+2T>C	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome +1 more	GPathogenic
Select item 1077056	NM_033380.3(COL4A5):c.4787G>A (p.Trp1596Ter)	COL4A5 (W1590* +1 more)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GPathogenic
Select item 860456	NM_033380.3(COL4A5):c.4962G>A (p.Trp1654Ter)	COL4A5 (W1648* +1 more)	Single nucleotide variant (nonsense)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1077042	NM_033380.3(COL4A5):c.4978_4979insAAAA (p.Val1660fs)	COL4A5 (V1654fs +1 more)	Insertion (frameshift variant)	X-linked Alport syndrome	GPathogenic

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Items: 44