"Genome-Nilou Lab"[submitter] AND "COL4A3"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 254978	NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg)	COL4A3, MFF-DT (G43R)	Single nucleotide variant (missense variant)	Alport syndrome +4 more	GBenign
Select item 254981	NM_000091.5(COL4A3):c.144+12C>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Alport syndrome +4 more	GBenign
Select item 1172948	NM_000091.5(COL4A3):c.145-99C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +1 more	GBenign/Likely benign
Select item 1172949	NM_000091.5(COL4A3):c.280-40T>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +1 more	GBenign/Likely benign
Select item 1172950	NM_000091.5(COL4A3):c.324+73C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 254996	NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro)	COL4A3, MFF-DT (L141P)	Single nucleotide variant (missense variant)	Alport syndrome +4 more	GBenign
Select item 1172966	NM_000091.5(COL4A3):c.441+146G>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +1 more	GBenign
Select item 1172967	NM_000091.5(COL4A3):c.441+150G>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +1 more	GBenign
Select item 1172968	NM_000091.5(COL4A3):c.442-88A>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1172969	NM_000091.5(COL4A3):c.468+139C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +1 more	GBenign
Select item 255001	NM_000091.5(COL4A3):c.485A>G (p.Glu162Gly)	COL4A3, MFF-DT (E162G)	Single nucleotide variant (missense variant)	Alport syndrome +4 more	GBenign
Select item 1172970	NM_000091.5(COL4A3):c.687+103T>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +1 more	GBenign/Likely benign
Select item 1172971	NM_000091.5(COL4A3):c.765+49T>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +2 more	GBenign
Select item 255007	NM_000091.5(COL4A3):c.828+20A>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1172972	NM_000091.5(COL4A3):c.828+59C>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +2 more	GBenign
Select item 1172973	NM_000091.5(COL4A3):c.828+84T>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome	GLikely benign
Select item 682614	NM_000091.5(COL4A3):c.888+30G>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +2 more	GBenign
Select item 1172974	NM_000091.5(COL4A3):c.889-39T>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 255009	NM_000091.5(COL4A3):c.933+14T>C	MFF-DT, COL4A3	Single nucleotide variant (intron variant)	Alport syndrome +3 more	GBenign/Likely benign
Select item 255010	NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr)	COL4A3, MFF-DT (D326Y)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +4 more	GBenign
Select item 682502	NM_000091.5(COL4A3):c.987+35T>G	MFF-DT, COL4A3	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +2 more	GBenign
Select item 683248	NM_000091.5(COL4A3):c.988-80T>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +1 more	GBenign/Likely benign
Select item 427770	NM_000091.5(COL4A3):c.1175G>A (p.Gly392Glu)	COL4A3, MFF-DT (G392E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 254976	NM_000091.5(COL4A3):c.1195C>T (p.Leu399=)	MFF-DT, COL4A3	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +4 more	GBenign
Select item 254977	NM_000091.5(COL4A3):c.1223G>A (p.Arg408His)	COL4A3, MFF-DT (R408H)	Single nucleotide variant (missense variant)	Alport syndrome +4 more	GBenign
Select item 334759	NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr)	COL4A3, MFF-DT (S419Y)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 550720	NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu)	COL4A3, MFF-DT (P432L)	Single nucleotide variant (missense variant)	Hearing impairment +5 more	GConflicting classifications of pathogenicity
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 1172987	NM_000091.5(COL4A3):c.1408+35C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome	GLikely benign
Select item 254982	NM_000091.5(COL4A3):c.1452G>A (p.Gly484=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +5 more	GBenign/Likely benign
Select item 682503	NM_000091.5(COL4A3):c.1576-60G>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +1 more	GBenign
Select item 254984	NM_000091.5(COL4A3):c.1576-15T>G	MFF-DT, COL4A3	Single nucleotide variant (intron variant)	Alport syndrome +3 more	GBenign
Select item 254985	NM_000091.5(COL4A3):c.1721C>T (p.Pro574Leu)	COL4A3, MFF-DT (P574L)	Single nucleotide variant (missense variant)	Alport syndrome +3 more	GBenign
Select item 1172988	NM_000091.5(COL4A3):c.2021-54T>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +1 more	GBenign/Likely benign
Select item 1172989	NM_000091.5(COL4A3):c.2223+100G>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +1 more	GBenign
Select item 809179	NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys)	COL4A3, MFF-DT (R761K)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1172990	NM_000091.5(COL4A3):c.2375-66C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +2 more	GBenign
Select item 1210382	NM_000091.5(COL4A3):c.2636del (p.Pro879fs)	COL4A3, MFF-DT (P879fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 1172991	NM_000091.5(COL4A3):c.2881+46A>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 1195957	NM_000091.5(COL4A3):c.3323G>T (p.Ser1108Ile)	COL4A3, MFF-DT (S1108I)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GUncertain significance
Select item 682504	NM_000091.5(COL4A3):c.3419-39C>T	MFF-DT, COL4A3	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +1 more	GBenign
Select item 1246467	NM_000091.5(COL4A3):c.3419-4del	COL4A3, MFF-DT	Deletion (intron variant)	not provided +2 more	GBenign
Select item 1195954	NM_000091.5(COL4A3):c.3591A>G (p.Pro1197=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal recessive Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1195976	NM_000091.5(COL4A3):c.3755C>G (p.Ala1252Gly)	COL4A3, MFF-DT (A1252G)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GUncertain significance
Select item 254995	NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu)	COL4A3, MFF-DT (D1269E)	Single nucleotide variant (missense variant)	Alport syndrome +4 more	GBenign
Select item 1172992	NM_000091.5(COL4A3):c.3882+132T>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1172993	NM_000091.5(COL4A3):c.4154-69C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1173001	NM_000091.5(COL4A3):c.4253-51G>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1195955	NM_000091.5(COL4A3):c.4315G>A (p.Ala1439Thr)	MFF-DT, COL4A3 (A1439T)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GUncertain significance
Select item 1195977	NM_000091.5(COL4A3):c.4386G>A (p.Glu1462=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal recessive Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 334784	NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=)	MFF-DT, COL4A3	Single nucleotide variant (synonymous variant)	Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1210381	NM_000091.5(COL4A3):c.4721G>A (p.Trp1574Ter)	COL4A3, MFF-DT (W1574*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 1195956	NM_000091.5(COL4A3):c.4753A>G (p.Met1585Val)	COL4A3, MFF-DT (M1585V)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GUncertain significance
Select item 1173002	NM_000091.5(COL4A3):c.4756-74A>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome	GLikely benign
Select item 1173003	NM_000091.5(COL4A3):c.4756-69A>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome	GLikely benign
Select item 1173004	NM_000091.5(COL4A3):c.4756-68A>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome	GLikely benign
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

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Items: 58