C0241908[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 975086	NM_000092.5(COL4A4):c.4792G>A (p.Gly1598Arg)	COL4A4 (G1598R)	Single nucleotide variant (missense variant)	Benign familial hematuria	GUncertain significance
Select item 975099	NM_000092.5(COL4A4):c.4367A>G (p.Lys1456Arg)	COL4A4 (K1456R)	Single nucleotide variant (missense variant)	Benign familial hematuria +1 more	GUncertain significance
Select item 17407	NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter)	COL4A4 (R1377*)	Single nucleotide variant (nonsense)	COL4A4-related condition +4 more	GPathogenic
Select item 550471	NM_000092.5(COL4A4):c.2638del (p.Ala880fs)	COL4A4 (A880fs)	Deletion (frameshift variant)	Glomerulonephritis +5 more	GPathogenic
Select item 970165	NM_000092.5(COL4A4):c.2617G>A (p.Gly873Arg)	COL4A4 (G873R)	Single nucleotide variant (missense variant)	Benign familial hematuria +1 more	GPathogenic
Select item 975097	NM_000092.5(COL4A4):c.2377del (p.Ala793fs)	COL4A4 (A793fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome +2 more	GPathogenic
Select item 975092	NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu)	COL4A4 (G771E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 555669	NM_000092.5(COL4A4):c.2279dup (p.Asp761fs)	COL4A4 (D761fs)	Duplication (frameshift variant)	Benign familial hematuria +1 more	GPathogenic/Likely pathogenic
Select item 975093	NM_000092.5(COL4A4):c.1970G>A (p.Gly657Asp)	COL4A4 (G657D)	Single nucleotide variant (missense variant)	Benign familial hematuria	GLikely pathogenic
Select item 562328	NM_000092.5(COL4A4):c.1108G>A (p.Gly370Arg)	COL4A4 (G370R)	Single nucleotide variant (missense variant)	Benign familial hematuria	GLikely pathogenic
Select item 369941	NM_000092.5(COL4A4):c.446G>T (p.Gly149Val)	COL4A4 (G149V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 975101	NM_000092.5(COL4A4):c.230G>C (p.Gly77Ala)	COL4A4 (G77A)	Single nucleotide variant (missense variant)	Benign familial hematuria	GPathogenic
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 369964	NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)	COL4A3, MFF-DT (G695R)	Single nucleotide variant (missense variant)	COL4A3-related condition +7 more	GConflicting classifications of pathogenicity
Select item 287915	NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)	MFF-DT, COL4A3 (R1661C)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +5 more	GConflicting classifications of pathogenicity