"Precision Medicine Center, Zhengzhou University"[submitter] AND "COL4 - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1077062	NM_000091.5(COL4A3):c.600_603dup (p.Phe202fs)	COL4A3, MFF-DT (F202fs)	Duplication (frameshift variant)	Autosomal dominant Alport syndrome	GPathogenic
Select item 1077061	NM_000091.5(COL4A3):c.697G>A (p.Gly233Arg)	COL4A3, MFF-DT (G233R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 2681738	NM_000091.5(COL4A3):c.1038T>A (p.Tyr346Ter)	COL4A3, MFF-DT (Y346*)	Single nucleotide variant (nonsense)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 2681739	NM_000091.5(COL4A3):c.1274C>A (p.Ser425Ter)	COL4A3, MFF-DT (S425*)	Single nucleotide variant (nonsense)	Autosomal dominant Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 522482	NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg)	COL4A3, MFF-DT (G619R)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1077060	NM_000091.5(COL4A3):c.1865G>A (p.Gly622Glu)	COL4A3, MFF-DT (G622E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1077063	NM_000091.5(COL4A3):c.2267G>A (p.Gly756Asp)	COL4A3, MFF-DT (G756D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 551881	NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu)	COL4A3, MFF-DT (G997E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 635543	NM_000091.5(COL4A3):c.3575G>A (p.Gly1192Glu)	COL4A3, MFF-DT (G1192E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GLikely pathogenic
Select item 1077019	NM_000091.5(COL4A3):c.3769G>A (p.Gly1257Arg)	COL4A3, MFF-DT (G1257R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 550745	NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg)	COL4A3, MFF-DT (L1598R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity