C4551998[trait identifier] AND "Athena Diagnostics"[submitter] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 311019	NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=)	COL4A1	Single nucleotide variant (synonymous variant)	Porencephalic cyst +6 more	GBenign/Likely benign
Select item 258260	NM_001845.6(COL4A1):c.4800C>T (p.Ser1600=)	COL4A1	Single nucleotide variant (synonymous variant)	Brain small vessel disease 1 with or without ocular anomalies +3 more	GBenign
Select item 258257	NM_001845.6(COL4A1):c.4640+7C>T	COL4A1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 258255	NM_001845.6(COL4A1):c.4470C>T (p.Ala1490=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 197520	NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His)	COL4A1 (Q1334H)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 311034	NM_001845.6(COL4A1):c.3877-8G>A	COL4A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 258253	NM_001845.6(COL4A1):c.3877-9C>T	COL4A1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 715098	NM_001845.6(COL4A1):c.3774T>C (p.Leu1258=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 258252	NM_001845.6(COL4A1):c.3693G>A (p.Thr1231=)	COL4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +3 more	GBenign
Select item 311036	NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu)	COL4A1 (M1212L)	Single nucleotide variant (missense variant)	Porencephalic cyst +4 more	GConflicting classifications of pathogenicity
Select item 311038	NM_001845.6(COL4A1):c.3506-7C>G	COL4A1	Single nucleotide variant (intron variant)	Brain small vessel disease 1 with or without ocular anomalies +5 more	GBenign/Likely benign
Select item 311040	NM_001845.6(COL4A1):c.3326-13dup	COL4A1	Duplication (intron variant)	Porencephalic cyst +7 more	GBenign/Likely benign
Select item 311041	NM_001845.6(COL4A1):c.3288A>G (p.Pro1096=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 258251	NM_001845.6(COL4A1):c.3189A>T (p.Arg1063=)	COL4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +3 more	GBenign
Select item 258250	NM_001845.6(COL4A1):c.3183G>A (p.Gly1061=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 585513	NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr)	COL4A1 (I1057T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 800231	NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg)	COL4A1 (P902R)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GConflicting classifications of pathogenicity
Select item 311051	NM_001845.6(COL4A1):c.2647G>A (p.Val883Ile)	COL4A1 (V883I)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 161974	NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg)	COL4A1 (G755R)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GPathogenic
Select item 311055	NM_001845.6(COL4A1):c.2160C>T (p.Gly720=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 995282	NM_001845.6(COL4A1):c.2144G>A (p.Arg715His)	COL4A1 (R715H)	Single nucleotide variant (missense variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +6 more	GConflicting classifications of pathogenicity
Select item 258249	NM_001845.6(COL4A1):c.2130G>A (p.Pro710=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 311057	NM_001845.6(COL4A1):c.2124G>A (p.Gly708=)	COL4A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 447160	NM_001845.6(COL4A1):c.2093A>G (p.Lys698Arg)	COL4A1 (K698R)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 447159	NM_001845.6(COL4A1):c.1838C>G (p.Pro613Arg)	COL4A1 (P613R)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +3 more	GConflicting classifications of pathogenicity
Select item 195950	NM_001845.6(COL4A1):c.1815T>C (p.Pro605=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 258247	NM_001845.6(COL4A1):c.1663= (p.Pro555=)	COL4A1	Single nucleotide variant (no sequence alteration)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +4 more	GBenign
Select item 447158	NM_001845.6(COL4A1):c.1427G>A (p.Arg476Gln)	COL4A1 (R476Q)	Single nucleotide variant (missense variant)	Hemorrhage, intracerebral, susceptibility to +7 more	GUncertain significance
Select item 422781	NM_001845.6(COL4A1):c.1402C>T (p.Leu468Phe)	COL4A1 (L468F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 258246	NM_001845.6(COL4A1):c.1257T>C (p.Pro419=)	COL4A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 804572	NM_001845.6(COL4A1):c.1091C>T (p.Pro364Leu)	COL4A1 (P364L)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 311064	NM_001845.6(COL4A1):c.1084+5C>G	COL4A1	Single nucleotide variant (intron variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GBenign
Select item 585510	NM_001845.6(COL4A1):c.1056G>A (p.Pro352=)	COL4A1	Single nucleotide variant (synonymous variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +2 more	GConflicting classifications of pathogenicity
Select item 39863	NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu)	COL4A1 (P352L)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +2 more	GConflicting classifications of pathogenicity
Select item 311068	NM_001845.6(COL4A1):c.958-9C>T	COL4A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 258265	NM_001845.6(COL4A1):c.859-10T>C	COL4A1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 311070	NM_001845.6(COL4A1):c.808-7C>A	COL4A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 258263	NM_001845.6(COL4A1):c.808-7C>G	COL4A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 258262	NM_001845.6(COL4A1):c.780+7G>A	COL4A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 447162	NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp)	COL4A1 (G173D)	Single nucleotide variant (missense variant)	Hemorrhage, intracerebral, susceptibility to +5 more	GConflicting classifications of pathogenicity
Select item 311077	NM_001845.6(COL4A1):c.501C>T (p.Pro167=)	COL4A1	Single nucleotide variant (synonymous variant)	Porencephalic cyst +3 more	GBenign/Likely benign
Select item 258258	NM_001845.6(COL4A1):c.468+5ATTTT[2]	COL4A1	Microsatellite (intron variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +4 more	GBenign
Select item 258254	NM_001845.6(COL4A1):c.432T>A (p.Ala144=)	COL4A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 198472	NM_001845.6(COL4A1):c.393G>A (p.Glu131=)	COL4A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 196328	NM_001845.6(COL4A1):c.234+8C>T	COL4A1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 193216	NM_001845.6(COL4A1):c.19G>C (p.Val7Leu)	COL4A2, COL4A1 (V7L)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign

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Items: 46