"3billion"[submitter] AND "MFF-DT"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 266006	NM_000091.5(COL4A3):c.765G>A (p.Thr255=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 562427	NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)	COL4A3, MFF-DT (G300R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1526260	NM_000091.5(COL4A3):c.1029+4A>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 1687543	NM_000091.5(COL4A3):c.1307G>T (p.Gly436Val)	COL4A3, MFF-DT (G436V)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 1687269	NM_000091.5(COL4A3):c.1873G>C (p.Gly625Arg)	MFF-DT, COL4A3 (G625R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GUncertain significance
Select item 2572431	NM_000091.5(COL4A3):c.2057G>A (p.Gly686Asp)	COL4A3, MFF-DT (G686D)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 1333494	NM_000091.5(COL4A3):c.2498G>A (p.Gly833Asp)	COL4A3, MFF-DT (G833D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1333468	NM_000091.5(COL4A3):c.2584G>C (p.Gly862Arg)	COL4A3, MFF-DT (G862R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 2444399	NM_000091.5(COL4A3):c.2863G>A (p.Gly955Arg)	COL4A3, MFF-DT (G955R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 2572470	NM_000091.5(COL4A3):c.3427G>A (p.Gly1143Arg)	COL4A3, MFF-DT (G1143R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1687414	NM_000091.5(COL4A3):c.4114C>T (p.Gln1372Ter)	COL4A3, MFF-DT (Q1372*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GPathogenic
Select item 2444275	NM_000091.5(COL4A3):c.4812C>A (p.Cys1604Ter)	COL4A3, MFF-DT (C1604*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GPathogenic