C4746986[trait identifier] AND "Laboratory of Medical Genetics, Nation - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1299615	NM_033380.3(COL4A5):c.212C>T (p.Pro71Leu)	COL4A5 (P71L)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GUncertain significance
Select item 1708055	NM_033380.3(COL4A5):c.219_226del (p.Arg74fs)	COL4A5 (R74fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1299530	NM_033380.3(COL4A5):c.228A>T (p.Gln76His)	COL4A5 (Q76H)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1299555	NM_033380.3(COL4A5):c.845dup (p.Gly283fs)	COL4A5 (G283fs)	Duplication (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 38756	NM_033380.3(COL4A5):c.1589G>A (p.Gly530Asp)	COL4A5 (G530D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 1299624	NM_033380.3(COL4A5):c.1603C>T (p.Pro535Ser)	COL4A5 (P535S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 24455	NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	COL4A5 (G624D)	Single nucleotide variant (missense variant)	Glomerulopathy +4 more	GPathogenic/Likely pathogenic
Select item 24638	NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser)	COL4A5 (G1170S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 637042	NM_033380.3(COL4A5):c.4377del (p.Gly1460fs)	COL4A5 (G1460fs +1 more)	Deletion (frameshift variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic