"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 681002	NM_000092.5(COL4A4):c.4334-3del	COL4A4	Deletion (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 255039	NM_000092.5(COL4A4):c.4217-15T>C	COL4A4	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 191312	NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met)	COL4A4 (V1327M)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
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 1194992	NM_000092.5(COL4A4):c.3818-45T>A	COL4A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 255030	NM_000092.5(COL4A4):c.3486A>G (p.Pro1162=)	COL4A4	Single nucleotide variant (synonymous variant)	Alport syndrome +3 more	GBenign/Likely benign
Select item 733775	NM_000092.5(COL4A4):c.3108T>C (p.Gly1036=)	COL4A4	Single nucleotide variant (synonymous variant)	Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 509133	NM_000092.5(COL4A4):c.2907A>C (p.Ser969=)	COL4A4	Single nucleotide variant (synonymous variant)	Kidney disorder +3 more	GBenign/Likely benign
Select item 255025	NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val)	COL4A4 (I967V)	Single nucleotide variant (missense variant)	Alport syndrome +4 more	GBenign
Select item 1284919	NM_000092.5(COL4A4):c.2833G>T (p.Gly945Ter)	COL4A4 (G945*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 255024	NM_000092.5(COL4A4):c.2717-5A>T	COL4A4	Single nucleotide variant (intron variant)	Alport syndrome +6 more	GConflicting classifications of pathogenicity
Select item 17406	NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu)	COL4A4 (G897E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GPathogenic/Likely pathogenic
Select item 255023	NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln)	COL4A4 (R877Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 255019	NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu)	COL4A4 (P759L)	Single nucleotide variant (missense variant)	Alport syndrome +3 more	GBenign
Select item 1285201	NM_000092.5(COL4A4):c.2174G>A (p.Gly725Asp)	COL4A4 (G725D)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 334724	NM_000092.5(COL4A4):c.2165-15T>G	COL4A4	Single nucleotide variant (intron variant)	Alport syndrome +1 more	GBenign
Select item 1297607	NM_000092.5(COL4A4):c.1848del (p.Pro617fs)	COL4A4 (P617fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 500055	NM_000092.5(COL4A4):c.1833T>C (p.Gly611=)	COL4A4	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 334732	NM_000092.5(COL4A4):c.948T>C (p.Tyr316=)	COL4A4	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 447193	NM_000092.5(COL4A4):c.666G>A (p.Pro222=)	COL4A4	Single nucleotide variant (synonymous variant)	Kidney disorder +3 more	GBenign/Likely benign
Select item 1211121	NM_000092.5(COL4A4):c.559-21A>G	COL4A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 255017	NM_000092.5(COL4A4):c.195T>C (p.Gly65=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 22