"Eurofins Ntd Llc (ga)"[submitter] AND "MFF-DT"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 550529	NM_000091.5(COL4A3):c.469G>C (p.Gly157Arg)	COL4A3, MFF-DT (G157R)	Single nucleotide variant (missense variant)	Alport syndrome +4 more	GUncertain significance
Select item 254979	NM_000091.5(COL4A3):c.1352A>G (p.His451Arg)	COL4A3, MFF-DT (H451R)	Single nucleotide variant (missense variant)	Alport syndrome +4 more	GBenign/Likely benign
Select item 452348	NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met)	COL4A3, MFF-DT (T629M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 501575	NM_000091.5(COL4A3):c.2699T>C (p.Ile900Thr)	COL4A3, MFF-DT (I900T)	Single nucleotide variant (missense variant)	COL4A3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 551819	NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs)	COL4A3, MFF-DT (V923fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 593397	NM_000091.5(COL4A3):c.2848G>A (p.Val950Ile)	COL4A3, MFF-DT (V950I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 594998	NM_000091.5(COL4A3):c.3825C>T (p.His1275=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided +2 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)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 501254	NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His)	COL4A3, MFF-DT (R1432H)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 592973	NM_000091.5(COL4A3):c.4351C>G (p.His1451Asp)	COL4A3, MFF-DT (H1451D)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 449540	NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)	COL4A3, MFF-DT (L1474P)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 501978	NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val)	MFF-DT, COL4A3 (A1482V)	Single nucleotide variant (missense variant)	Kidney disorder +3 more	GConflicting classifications of pathogenicity
Select item 499789	NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)	COL4A3, MFF-DT (F1504L)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 287915	NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)	MFF-DT, COL4A3 (R1661C)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +6 more	GPathogenic/Likely pathogenic