"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 24455	NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	COL4A5 (G624D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +4 more	GPathogenic/Likely pathogenic
Select item 587102	NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala)	COL4A5 (P739A)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 24630	NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser)	COL4A5 (G1143S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 975926	NM_033380.3(COL4A5):c.3493G>A (p.Glu1165Lys)	COL4A5 (E1165K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 24638	NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser)	COL4A5 (G1170S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 24718	NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys)	COL4A5 (R1410C +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 438652	NM_033380.3(COL4A5):c.4895C>T (p.Ser1632Leu)	COL4A5 (S1626L +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 982702	NM_033380.3(COL4A5):c.4930T>C (p.Cys1644Arg)	COL4A5 (C1638R +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
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