"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 334705	NM_000092.5(COL4A4):c.4349T>C (p.Ile1450Thr)	COL4A4 (I1450T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 681002	NM_000092.5(COL4A4):c.4334-3del	COL4A4	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 778018	NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=)	COL4A4	Single nucleotide variant (synonymous variant)	COL4A4-related condition +3 more	GConflicting classifications of pathogenicity
Select item 255024	NM_000092.5(COL4A4):c.2717-5A>T	COL4A4	Single nucleotide variant (intron variant)	Benign familial hematuria +6 more	GConflicting classifications of pathogenicity
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 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)	Kidney disorder +5 more	GBenign/Likely benign
Select item 508606	NM_000092.5(COL4A4):c.1205-9A>G	COL4A4	Single nucleotide variant (intron variant)	COL4A4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 447194	NM_000092.5(COL4A4):c.680G>A (p.Arg227His)	COL4A4 (R227H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 447193	NM_000092.5(COL4A4):c.666G>A (p.Pro222=)	COL4A4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign