C2673195[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1217362	NM_001845.6(COL4A1):c.4150+38C>G	COL4A1	Single nucleotide variant (intron variant)	Brain small vessel disease 1 with or without ocular anomalies +2 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 258253	NM_001845.6(COL4A1):c.3877-9C>T	COL4A1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 258266	NM_001845.6(COL4A1):c.903+18G>A	COL4A1	Single nucleotide variant (intron variant)	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +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 258262	NM_001845.6(COL4A1):c.780+7G>A	COL4A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 258261	NM_001845.6(COL4A1):c.616-11G>C	COL4A1	Single nucleotide variant (intron variant)	not provided +3 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 193216	NM_001845.6(COL4A1):c.19G>C (p.Val7Leu)	COL4A2, COL4A1 (V7L)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign