ClinVar for MedGen (Select 65997) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1518364	NM_004646.4(NPHS1):c.710T>A (p.Leu237Gln)	NPHS1 (L237Q)	Single nucleotide variant (missense variant)	Microscopic hematuria +2 more	GUncertain significance
Select item 1415681	NM_004646.4(NPHS1):c.1486C>A (p.Arg496Ser)	NPHS1 (R496S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1210222	NM_016341.4(PLCE1):c.3101A>G (p.Asp1034Gly)	PLCE1 (D1034G +1 more)	Single nucleotide variant (missense variant)	Microscopic hematuria	GUncertain significance
Select item 1038479	NM_000092.5(COL4A4):c.1098A>G (p.Lys366=)	COL4A4	Single nucleotide variant (synonymous variant)	Microscopic hematuria +3 more	GUncertain significance
Select item 1012372	NM_000092.5(COL4A4):c.4788G>A (p.Trp1596Ter)	COL4A4 (W1596*)	Single nucleotide variant (nonsense)	Microscopic hematuria	GUncertain significance
Select item 523547	NM_033380.3(COL4A5):c.3614G>T (p.Gly1205Val)	COL4A5 (G1205V)	Single nucleotide variant (missense variant)	Chronic kidney disease +2 more	GPathogenic
Select item 523545	NM_033380.3(COL4A5):c.2182G>A (p.Gly728Arg)	COL4A5 (G728R)	Single nucleotide variant (missense variant)	Mild proteinuria +2 more	GUncertain significance
Select item 438655	NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup)	MFF-DT, COL4A3	Duplication (inframe_insertion)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 403214	NM_004998.4(MYO1E):c.1593C>G (p.Ile531Met)	MYO1E (I531M)	Single nucleotide variant (missense variant)	Kidney disorder +3 more	GConflicting classifications of pathogenicity
Select item 371669	NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg)	COL4A3, MFF-DT (G640R)	Single nucleotide variant (missense variant)	Microscopic hematuria +2 more	GPathogenic/Likely pathogenic
Select item 369962	NM_000092.5(COL4A4):c.81_86del (p.27IL[1])	COL4A4	Deletion (inframe_deletion)	Autosomal recessive Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 135453	NM_024426.6(WT1):c.760C>T (p.Pro254Ser)	WT1 (P37S +1 more)	Single nucleotide variant (missense variant +1 more)	Wilms tumor 1 +11 more	GConflicting classifications of pathogenicity
Select item 24406	NM_033380.3(COL4A5):c.1397G>A (p.Gly466Glu)	COL4A5 (G466E)	Single nucleotide variant (missense variant)	Hematuria +1 more	GLikely pathogenic