ClinVar for MedGen (Select 5488) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 988253	NM_000091.5(COL4A3):c.1822G>A (p.Gly608Arg)	COL4A3, MFF-DT (G608R)	Single nucleotide variant (missense variant)	Hematuria	GPathogenic
Select item 988151	NM_000092.5(COL4A4):c.3408del (p.Met1137fs)	COL4A4 (M1137fs)	Deletion (frameshift variant)	Hematuria	GLikely pathogenic
Select item 988150	NM_000092.5(COL4A4):c.3593_3594del (p.Gly1198fs)	COL4A4 (G1198fs)	Deletion (frameshift variant)	Hematuria	GLikely pathogenic
Select item 988107	NM_000091.5(COL4A3):c.2021G>T (p.Gly674Val)	MFF-DT, COL4A3 (G674V)	Single nucleotide variant (missense variant)	Hematuria	GLikely pathogenic
Select item 556542	NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1])	COL4A3, MFF-DT	Deletion (inframe_deletion)	Autosomal recessive Alport syndrome +3 more	GPathogenic/Likely pathogenic
Select item 523549	NM_033380.3(COL4A5):c.808G>A (p.Gly270Arg)	COL4A5 (G270R)	Single nucleotide variant (missense variant)	Hearing impairment +2 more	GUncertain significance
Select item 523548	NM_033380.3(COL4A5):c.4906dup (p.Ile1636fs)	COL4A5 (I1630fs +1 more)	Duplication (frameshift variant)	Proteinuria +1 more	GLikely pathogenic
Select item 523544	NM_033380.2(COL4A5):c.1424-2_1430delAGGTGACAA	COL4A5	Deletion	Kidney damage +3 more	GPathogenic
Select item 523324	NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp)	COL4A4 (G1465D)	Single nucleotide variant (missense variant)	Hypertensive disorder +8 more	GConflicting classifications of pathogenicity
Select item 523323	NM_000091.5(COL4A3):c.2746+17C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Hematuria +1 more	GConflicting classifications of pathogenicity
Select item 523321	NM_000085.5(CLCNKB):c.937_940dup (p.Arg314delinsLysTer)	CLCNKB, LOC106501713	Duplication (nonsense)	Bartter disease type 3 +3 more	GPathogenic/Likely pathogenic
Select item 523320	NM_000085.5(CLCNKB):c.700T>C (p.Trp234Arg)	CLCNKB, LOC106501713 (W234R +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +3 more	GConflicting classifications of pathogenicity
Select item 424759	NM_000092.4(COL4A4):c.[1320_1369+2del];[2320G>C]			Autosomal recessive Alport syndrome	GPathogenic
Select item 397521	NM_000091.5(COL4A3):c.2657-1G>T	MFF-DT, COL4A3	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 369962	NM_000092.5(COL4A4):c.81_86del (p.27IL[1])	COL4A4	Deletion (inframe_deletion)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 242442	NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)	COL4A4 (G774R)	Single nucleotide variant (missense variant)	Hematuria +8 more	GConflicting classifications of pathogenicity
Select item 24406	NM_033380.3(COL4A5):c.1397G>A (p.Gly466Glu)	COL4A5 (G466E)	Single nucleotide variant (missense variant)	Microscopic hematuria +1 more	GLikely pathogenic
Select item 10467	NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)	COL4A5 (R1677Q +1 more)	Single nucleotide variant (missense variant)	COL4A5-related condition +2 more	GPathogenic/Likely pathogenic