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

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 254986	NM_000091.5(COL4A3):c.222G>T (p.Pro74=)	MFF-DT, COL4A3	Single nucleotide variant (synonymous variant)	COL4A3-related condition +2 more	GBenign/Likely benign
Select item 725025	NM_000091.5(COL4A3):c.934-6C>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome +4 more	GLikely benign
Select item 447170	NM_000091.5(COL4A3):c.2826C>T (p.Pro942=)	MFF-DT, COL4A3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 595859	NM_000091.5(COL4A3):c.2886C>T (p.Phe962=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 254991	NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal recessive Alport syndrome +4 more	GConflicting classifications of pathogenicity
Select item 334775	NM_000091.5(COL4A3):c.3566-9T>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Alport syndrome +1 more	GConflicting classifications of pathogenicity
Select item 816652	NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln)	COL4A3, MFF-DT (R1215Q)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 555905	NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)	COL4A3, MFF-DT (G1277S)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +7 more	GConflicting classifications of pathogenicity
Select item 514984	NM_000091.5(COL4A3):c.4398A>C (p.Pro1466=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 449540	NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)	COL4A3, MFF-DT (L1474P)	Single nucleotide variant (missense variant)	COL4A3-related condition +7 more	GConflicting classifications of pathogenicity
Select item 254998	NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg)	COL4A3, MFF-DT (Q1495R)	Single nucleotide variant (missense variant)	Kidney disorder +6 more	GBenign/Likely benign
Select item 334785	NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 499789	NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)	MFF-DT, COL4A3 (F1504L)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1044092	NM_000091.5(COL4A3):c.4664C>T (p.Ala1555Val)	COL4A3, MFF-DT (A1555V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 254999	NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 255002	NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity