"Revvity Omics, Revvity"[submitter] AND "COL4A3"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2440313	NM_000091.5(COL4A3):c.161C>T (p.Pro54Leu)	COL4A3, MFF-DT (P54L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 553693	NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser)	COL4A3, MFF-DT (G58S)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 334754	NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu)	COL4A3, MFF-DT (P74L)	Single nucleotide variant (missense variant)	Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 599069	NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg)	COL4A3, MFF-DT (G115R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 554004	NM_000091.5(COL4A3):c.345del (p.Pro116fs)	COL4A3, MFF-DT (P116fs)	Deletion (frameshift variant)	Autosomal dominant Alport syndrome +2 more	GPathogenic
Select item 1324119	NM_000091.5(COL4A3):c.441+2T>C	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 447175	NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg)	COL4A3, MFF-DT (G174R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1324117	NM_000091.5(COL4A3):c.1270G>T (p.Gly424Cys)	COL4A3, MFF-DT (G424C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 551440	NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)	COL4A3, MFF-DT (G452R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 932709	NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg)	COL4A3, MFF-DT (G484R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 557644	NM_000091.5(COL4A3):c.1459G>T (p.Gly487Cys)	COL4A3, MFF-DT (G487C)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GConflicting classifications of pathogenicity
Select item 949881	NM_000091.5(COL4A3):c.1937dup (p.Glu647fs)	COL4A3, MFF-DT (E647fs)	Duplication (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 1312488	NM_000091.5(COL4A3):c.2096T>C (p.Ile699Thr)	COL4A3, MFF-DT (I699T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2439370	NM_000091.5(COL4A3):c.2275G>C (p.Gly759Arg)	COL4A3, MFF-DT (G759R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 447169	NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg)	MFF-DT, COL4A3 (G818R)	Single nucleotide variant (missense variant)	COL4A3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2440314	NM_000091.5(COL4A3):c.2618G>A (p.Arg873Lys)	COL4A3, MFF-DT (R873K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 551951	NM_000091.5(COL4A3):c.2621_2622delinsT (p.Gly874fs)	COL4A3, MFF-DT (G874fs)	Indel (frameshift variant)	Autosomal dominant Alport syndrome +3 more	GPathogenic
Select item 2440315	NM_000091.5(COL4A3):c.3331C>T (p.Leu1111Phe)	COL4A3, MFF-DT (L1111F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439376	NM_000091.5(COL4A3):c.3768del (p.Gly1257fs)	COL4A3, MFF-DT (G1257fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 191151	NM_000091.5(COL4A3):c.3964G>A (p.Gly1322Ser)	COL4A3, MFF-DT (G1322S)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GLikely pathogenic
Select item 2439357	NM_000091.5(COL4A3):c.4137_4153+1del	COL4A3, MFF-DT	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2690575	NM_000091.5(COL4A3):c.4234G>C (p.Gly1412Arg)	MFF-DT, COL4A3 (G1412R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 449540	NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)	MFF-DT, COL4A3 (L1474P)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +6 more	GConflicting classifications of pathogenicity
Select item 287915	NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)	COL4A3, MFF-DT (R1661C)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +6 more	GConflicting classifications of pathogenicity

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Items: 24