C4746547[trait identifier] AND "Medical Genetics, University of Parma" - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 870359	NM_000092.5(COL4A4):c.4522+4T>G	COL4A4	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome +1 more	GUncertain significance
Select item 557146	NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu)	COL4A4 (G1015E)	Single nucleotide variant (missense variant)	Benign familial hematuria +3 more	GConflicting classifications of pathogenicity
Select item 255024	NM_000092.5(COL4A4):c.2717-5A>T	COL4A4	Single nucleotide variant (intron variant)	Benign familial hematuria +6 more	GConflicting classifications of pathogenicity
Select item 599076	NM_000092.5(COL4A4):c.1820C>T (p.Ala607Val)	COL4A4 (A607V)	Single nucleotide variant (missense variant)	Benign familial hematuria +1 more	GUncertain significance
Select item 870358	NM_000092.5(COL4A4):c.1580del (p.Gly527fs)	COL4A4 (G527fs)	Deletion (frameshift variant)	Autosomal dominant Alport syndrome +3 more	GPathogenic/Likely pathogenic
Select item 870357	NM_000092.5(COL4A4):c.1192_1195dup (p.Ala399fs)	COL4A4 (A399fs)	Duplication (frameshift variant)	Autosomal dominant Alport syndrome +1 more	GLikely pathogenic
Select item 870356	NM_000092.5(COL4A4):c.836G>A (p.Gly279Glu)	COL4A4 (G279E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +1 more	GLikely pathogenic
Select item 599069	NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg)	COL4A3, MFF-DT (G115R)	Single nucleotide variant (missense variant)	COL4A3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 522453	NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser)	COL4A3, MFF-DT (G121S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 870360	NM_000091.5(COL4A3):c.1084C>T (p.Pro362Ser)	COL4A3, MFF-DT (P362S)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +1 more	GUncertain significance
Select item 522482	NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg)	COL4A3, MFF-DT (G619R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 870361	NM_000091.5(COL4A3):c.2207G>T (p.Gly736Val)	COL4A3, MFF-DT (G736V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 870355	NM_000091.5(COL4A3):c.2621del (p.Gly874fs)	COL4A3, MFF-DT (G874fs)	Deletion (frameshift variant)	Autosomal dominant Alport syndrome +2 more	GLikely pathogenic
Select item 862824	NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser)	COL4A3, MFF-DT (G1349S)	Single nucleotide variant (missense variant)	Benign familial hematuria +3 more	GConflicting classifications of pathogenicity
Select item 870362	NM_000091.5(COL4A3):c.4235G>T (p.Gly1412Val)	COL4A3, MFF-DT (G1412V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +1 more	GPathogenic
Select item 24554	NM_033380.3(COL4A5):c.2692A>G (p.Met898Val)	COL4A5 (M898V)	Single nucleotide variant (missense variant)	COL4A5-related condition +2 more	GBenign/Likely benign