"OMIM"[submitter] AND "COL4A5"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 10465	NM_033380.3(COL4A5):c.161G>A (p.Gly54Asp)	COL4A5 (G54D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 10464	NM_033380.2(COL4A5):c.[866G>T;4282C>T]	COL4A5 (G289V +2 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 24352	NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg)	COL4A5 (G325R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +2 more	GPathogenic
Select item 10463	NM_033380.3(COL4A5):c.974G>A (p.Gly325Glu)	COL4A5 (G325E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 10462	NM_033380.3(COL4A5):c.1561G>T (p.Gly521Cys)	COL4A5 (G521C)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 10458	NM_033380.3(COL4A5):c.3428G>A (p.Gly1143Asp)	COL4A5 (G1143D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 24751	NM_033380.3(COL4A5):c.4631G>C (p.Trp1544Ser)	COL4A5 (W1538S +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 24761	NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser)	COL4A5 (C1564S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 10466	NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg)	COL4A5 (L1649R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 10467	NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)	COL4A5 (R1677Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 10460	Multiple alleles	COL4A5	Deletion	X-linked Alport syndrome	GPathogenic
Select item 10457	NG_011977.2:g.?_(146097_162513)del	COL4A5	Deletion	X-linked Alport syndrome	GPathogenic
Select item 10456	NG_011977.2:g.(246966_251107)_?del	COL4A5	Deletion	X-linked Alport syndrome	GPathogenic
Select item 10455	COL4A5, 10-15-KB INS, 40-KB DEL	COL4A5	Indel	X-linked Alport syndrome	GPathogenic
Select item 10453	NG_011977.2:g.(239831_242576)_(252772_257824)del	COL4A5	Deletion	X-linked Alport syndrome	GPathogenic