C4746986[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030829	NM_033380.3(COL4A5):c.462G>A (p.Met154Ile)	COL4A5 (M154I)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GUncertain significance
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 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 1032394	NM_033380.3(COL4A5):c.2600T>C (p.Ile867Thr)	COL4A5 (I867T)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 24676	NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys)	COL4A5 (G1241C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1029878	NM_033380.3(COL4A5):c.3964C>G (p.Leu1322Val)	COL4A5 (L1316V +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +2 more	GUncertain significance
Select item 209142	NM_033380.3(COL4A5):c.4016-1G>A	COL4A5	Single nucleotide variant (splice acceptor variant)	X-linked Alport syndrome	GPathogenic
Select item 1030828	NM_033380.3(COL4A5):c.4283G>A (p.Arg1428His)	COL4A5 (R1422H +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GConflicting classifications of pathogenicity
Select item 2582403	NM_033380.3(COL4A5):c.4468T>C (p.Tyr1490His)	COL4A5 (Y1484H +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 1030830	NM_033380.3(COL4A5):c.4987A>G (p.Met1663Val)	COL4A5 (M1663V +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 625795	GRCh37/hg19 Xq22.3(chrX:107802035-107802303)	COL4A5	Copy number loss	X-linked Alport syndrome	GPathogenic