"Ambry Genetics"[submitter] AND "COL4A5"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2463052	NM_033380.3(COL4A5):c.32G>T (p.Gly11Val)	COL4A5 (G11V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388547	NM_033380.3(COL4A5):c.46G>C (p.Ala16Pro)	COL4A5 (A16P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609904	NM_033380.3(COL4A5):c.404G>T (p.Gly135Val)	COL4A5 (G135V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1082864	NM_033380.3(COL4A5):c.433C>T (p.Pro145Ser)	COL4A5 (P145S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2623767	NM_033380.3(COL4A5):c.599C>T (p.Pro200Leu)	COL4A5 (P200L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314452	NM_033380.3(COL4A5):c.851A>T (p.Glu284Val)	COL4A5 (E284V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2271414	NM_033380.3(COL4A5):c.908A>T (p.Asp303Val)	COL4A5 (D303V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485585	NM_033380.3(COL4A5):c.953C>G (p.Pro318Arg)	COL4A5 (P318R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 24356	NM_033380.3(COL4A5):c.1032+3_1032+6del	COL4A5	Deletion (splice donor variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2616665	NM_033380.3(COL4A5):c.1032+4A>G	COL4A5	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2245165	NM_033380.3(COL4A5):c.1081A>G (p.Ile361Val)	COL4A5 (I361V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1165601	NM_033380.3(COL4A5):c.1909C>A (p.Gln637Lys)	COL4A5 (Q637K)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1561660	NM_033380.3(COL4A5):c.1972A>C (p.Thr658Pro)	COL4A5 (T658P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 730654	NM_033380.3(COL4A5):c.1975A>G (p.Ile659Val)	COL4A5 (I659V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 932073	NM_033380.3(COL4A5):c.2116A>G (p.Ile706Val)	COL4A5 (I706V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2389058	NM_033380.3(COL4A5):c.2233C>G (p.Pro745Ala)	COL4A5 (P745A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482067	NM_033380.3(COL4A5):c.2260G>T (p.Ala754Ser)	COL4A5 (A754S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521060	NM_033380.3(COL4A5):c.2317C>T (p.Pro773Ser)	COL4A5 (P773S)	Single nucleotide variant (missense variant)	COL4A5-related condition +1 more	GUncertain significance
Select item 1591388	NM_033380.3(COL4A5):c.2371T>G (p.Leu791Val)	COL4A5 (L791V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 520604	NM_033380.3(COL4A5):c.2958_2975del (p.Asp989_Gly994del)	COL4A5	Deletion (inframe_deletion)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 2532461	NM_033380.3(COL4A5):c.2959C>A (p.Pro987Thr)	COL4A5 (P987T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2166888	NM_033380.3(COL4A5):c.3041C>G (p.Pro1014Arg)	COL4A5 (P1014R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2245166	NM_033380.3(COL4A5):c.3085A>G (p.Ile1029Val)	COL4A5 (I1029V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1132796	NM_033380.3(COL4A5):c.3095T>C (p.Met1032Thr)	COL4A5 (M1032T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1628222	NM_033380.3(COL4A5):c.3232C>T (p.Leu1078Phe)	COL4A5 (L1078F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 767017	NM_033380.3(COL4A5):c.3251A>C (p.Glu1084Ala)	COL4A5 (E1084A)	Single nucleotide variant (missense variant)	COL4A5-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2293032	NM_033380.3(COL4A5):c.3334C>A (p.Pro1112Thr)	COL4A5 (P1112T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1804205	NM_033380.3(COL4A5):c.3457G>C (p.Gly1153Arg)	COL4A5 (G1153R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1165162	NM_033380.3(COL4A5):c.3829C>T (p.Pro1277Ser)	COL4A5 (P1271S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2540239	NM_033380.3(COL4A5):c.3959C>T (p.Pro1320Leu)	COL4A5 (P1314L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 733939	NM_033380.3(COL4A5):c.4117C>A (p.Gln1373Lys)	COL4A5 (Q1373K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2544380	NM_033380.3(COL4A5):c.4220del (p.Pro1407fs)	COL4A5 (P1401fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2470034	NM_033380.3(COL4A5):c.4459C>T (p.Leu1487Phe)	COL4A5 (L1487F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 373019	NM_033380.3(COL4A5):c.4652T>C (p.Met1551Thr)	COL4A5 (M1545T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1330806	NM_033380.3(COL4A5):c.4937A>G (p.Tyr1646Cys)	COL4A5 (Y1640C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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Items: 35