"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 895432	NM_000092.5(COL4A4):c.*2962A>G	COL4A4	Single nucleotide variant (3 prime UTR variant)	Kidney disorder +1 more	GUncertain significance
Select item 255044	NM_000092.5(COL4A4):c.5016A>G (p.Glu1672=)	COL4A4	Single nucleotide variant (synonymous variant)	Kidney disorder +3 more	GBenign/Likely benign
Select item 585534	NM_000092.5(COL4A4):c.4731G>A (p.Ala1577=)	COL4A4	Single nucleotide variant (synonymous variant)	Kidney disorder +2 more	GBenign/Likely benign
Select item 17409	NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu)	COL4A4 (P1572L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 334703	NM_000092.5(COL4A4):c.4656G>A (p.Met1552Ile)	COL4A4 (M1552I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1712415	NM_000092.5(COL4A4):c.4440C>A (p.Cys1480Ter)	COL4A4 (C1480*)	Single nucleotide variant (nonsense)	Kidney disorder	GLikely pathogenic
Select item 334704	NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met)	COL4A4 (T1474M)	Single nucleotide variant (missense variant)	Kidney disorder +4 more	GConflicting classifications of pathogenicity
Select item 778018	NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=)	COL4A4	Single nucleotide variant (synonymous variant)	Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 255035	NM_000092.5(COL4A4):c.4041A>G (p.Leu1347=)	COL4A4	Single nucleotide variant (synonymous variant)	Kidney disorder +4 more	GBenign
Select item 255034	NM_000092.5(COL4A4):c.3963T>C (p.Asp1321=)	COL4A4	Single nucleotide variant (synonymous variant)	Kidney disorder +2 more	GBenign/Likely benign
Select item 255030	NM_000092.5(COL4A4):c.3486A>G (p.Pro1162=)	COL4A4	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +3 more	GBenign/Likely benign
Select item 334710	NM_000092.5(COL4A4):c.3233C>T (p.Ala1078Val)	COL4A4 (A1078V)	Single nucleotide variant (missense variant)	Alport syndrome +3 more	GBenign
Select item 667045	NM_000092.5(COL4A4):c.3232G>A (p.Ala1078Thr)	COL4A4 (A1078T)	Single nucleotide variant (missense variant)	Kidney disorder +2 more	GBenign
Select item 255027	NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu)	COL4A4 (G999E)	Single nucleotide variant (missense variant)	Alport syndrome +4 more	GConflicting classifications of pathogenicity
Select item 509133	NM_000092.5(COL4A4):c.2907A>C (p.Ser969=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 255025	NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val)	COL4A4 (I967V)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 1712355	NM_000092.5(COL4A4):c.2782_2799del (p.Cys928_Gly933del)	COL4A4	Deletion (inframe_indel +1 more)	Kidney disorder	GUncertain significance
Select item 255024	NM_000092.5(COL4A4):c.2717-5A>T	COL4A4	Single nucleotide variant (intron variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 255021	NM_000092.5(COL4A4):c.2439A>T (p.Gly813=)	COL4A4	Single nucleotide variant (synonymous variant)	Kidney disorder +3 more	GBenign/Likely benign
Select item 334721	NM_000092.5(COL4A4):c.2367A>T (p.Gly789=)	COL4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive Alport syndrome +4 more	GBenign/Likely benign
Select item 255019	NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu)	COL4A4 (P759L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1101471	NM_000092.5(COL4A4):c.2190G>A (p.Pro730=)	COL4A4	Single nucleotide variant (synonymous variant)	Kidney disorder +1 more	GConflicting classifications of pathogenicity
Select item 255018	NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile)	COL4A4 (V670I)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +5 more	GBenign/Likely benign
Select item 500055	NM_000092.5(COL4A4):c.1833T>C (p.Gly611=)	COL4A4	Single nucleotide variant (synonymous variant)	Alport syndrome +5 more	GBenign/Likely benign
Select item 334729	NM_000092.5(COL4A4):c.1821G>A (p.Ala607=)	COL4A4	Single nucleotide variant (synonymous variant)	Alport syndrome +3 more	GBenign
Select item 218426	NM_000092.5(COL4A4):c.1781A>G (p.Glu594Gly)	COL4A4 (E594G)	Single nucleotide variant (missense variant)	Alport syndrome +4 more	GBenign/Likely benign
Select item 255015	NM_000092.5(COL4A4):c.1634G>C (p.Gly545Ala)	COL4A4 (G545A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 255013	NM_000092.5(COL4A4):c.1323T>C (p.Pro441=)	COL4A4	Single nucleotide variant (synonymous variant)	Alport syndrome +3 more	GBenign/Likely benign
Select item 504909	NM_000092.5(COL4A4):c.1202C>T (p.Ala401Val)	COL4A4 (A401V)	Single nucleotide variant (missense variant)	Kidney disorder +3 more	GBenign/Likely benign
Select item 334732	NM_000092.5(COL4A4):c.948T>C (p.Tyr316=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 447193	NM_000092.5(COL4A4):c.666G>A (p.Pro222=)	COL4A4	Single nucleotide variant (synonymous variant)	Alport syndrome +3 more	GBenign/Likely benign
Select item 447182	NM_000092.5(COL4A4):c.198A>G (p.Pro66=)	COL4A4	Single nucleotide variant (synonymous variant)	Alport syndrome +3 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 32