"MVZ Medizinische Genetik Mainz"[submitter] AND "MFF-DT"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066088	NM_000091.5(COL4A3):c.123_124delinsAA (p.Cys41_Asp42delinsTer)	COL4A3, MFF-DT (C41*)	Indel (nonsense)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3235992	NM_000091.5(COL4A3):c.279+1G>C	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3236817	NM_000091.5(COL4A3):c.317G>T (p.Gly106Val)	COL4A3, MFF-DT (G106V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3236781	NM_000091.5(COL4A3):c.373T>G (p.Cys125Gly)	COL4A3, MFF-DT (C125G)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 3068358	NM_000091.5(COL4A3):c.576_593del (p.Val194_Pro199del)	COL4A3, MFF-DT	Deletion (inframe_deletion)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3066146	NM_000091.5(COL4A3):c.609+2_609+3insTT	COL4A3, MFF-DT	Insertion (splice donor variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 3256617	NM_000091.5(COL4A3):c.655G>T (p.Gly219Cys)	COL4A3, MFF-DT (G219C)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 2692346	NM_000091.5(COL4A3):c.656G>A (p.Gly219Asp)	COL4A3, MFF-DT (G219D)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +1 more	GLikely pathogenic
Select item 3066279	NM_000091.5(COL4A3):c.698G>T (p.Gly233Val)	COL4A3, MFF-DT (G233V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3256699	NM_000091.5(COL4A3):c.744_765+66del	COL4A3, MFF-DT	Deletion (splice donor variant)	Autosomal dominant Alport syndrome	GPathogenic
Select item 3256861	NM_000091.5(COL4A3):c.889-1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	Autosomal dominant Alport syndrome	GPathogenic
Select item 3370320	NM_000091.5(COL4A3):c.962G>C (p.Gly321Ala)	COL4A3, MFF-DT (G321A)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3068337	NM_000091.5(COL4A3):c.1016G>C (p.Gly339Ala)	COL4A3, MFF-DT (G339A)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3256675	NM_000091.5(COL4A3):c.1029+3A>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 3234106	NM_000091.5(COL4A3):c.1271G>T (p.Gly424Val)	COL4A3, MFF-DT (G424V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3236081	NM_000091.5(COL4A3):c.1373G>T (p.Gly458Val)	COL4A3, MFF-DT (G458V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3236813	NM_000091.5(COL4A3):c.1399G>A (p.Gly467Arg)	COL4A3, MFF-DT (G467R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3234033	NM_000091.5(COL4A3):c.1575+4A>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 3068375	NM_000091.5(COL4A3):c.1697G>A (p.Gly566Asp)	COL4A3, MFF-DT (G566D)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3342275	NM_000091.5(COL4A3):c.1841G>A (p.Gly614Glu)	COL4A3, MFF-DT (G614E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3256860	NM_000091.5(COL4A3):c.1927+4G>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 3236067	NM_000091.5(COL4A3):c.2092G>A (p.Gly698Arg)	COL4A3, MFF-DT (G698R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 3066165	NM_000091.5(COL4A3):c.2302G>A (p.Gly768Arg)	COL4A3, MFF-DT (G768R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GPathogenic
Select item 3066280	NM_000091.5(COL4A3):c.2384G>A (p.Gly795Glu)	COL4A3, MFF-DT (G795E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3236031	NM_000091.5(COL4A3):c.2390del (p.Pro797fs)	COL4A3, MFF-DT (P797fs)	Deletion (frameshift variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3256628	NM_000091.5(COL4A3):c.2603G>T (p.Gly868Val)	COL4A3, MFF-DT (G868V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3236037	NM_000091.5(COL4A3):c.2657-1G>C	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	Autosomal dominant Alport syndrome	GPathogenic
Select item 3066299	NM_000091.5(COL4A3):c.2666G>T (p.Gly889Val)	COL4A3, MFF-DT (G889V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3236071	NM_000091.5(COL4A3):c.2693G>A (p.Gly898Glu)	COL4A3, MFF-DT (G898E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3066304	NM_000091.5(COL4A3):c.2746+1G>C	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	Autosomal dominant Alport syndrome	GPathogenic
Select item 3236150	NM_000091.5(COL4A3):c.2864G>A (p.Gly955Glu)	COL4A3, MFF-DT (G955E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3256629	NM_000091.5(COL4A3):c.3208A>G (p.Thr1070Ala)	COL4A3, MFF-DT (T1070A)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 3234088	NM_000091.5(COL4A3):c.3275G>A (p.Gly1092Glu)	COL4A3, MFF-DT (G1092E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3235969	NM_000091.5(COL4A3):c.3324dup (p.Pro1109fs)	COL4A3, MFF-DT (P1109fs)	Duplication (frameshift variant)	Autosomal dominant Alport syndrome	GPathogenic
Select item 3066244	NM_000091.5(COL4A3):c.3383G>A (p.Gly1128Asp)	COL4A3, MFF-DT (G1128D)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3338410	NM_000091.5(COL4A3):c.3418G>C (p.Gly1140Arg)	COL4A3, MFF-DT (G1140R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3234099	NM_000091.5(COL4A3):c.3454G>A (p.Gly1152Ser)	COL4A3, MFF-DT (G1152S)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3256892	NM_000091.5(COL4A3):c.3539G>A (p.Gly1180Asp)	COL4A3, MFF-DT (G1180D)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3234114	NM_000091.5(COL4A3):c.3742G>C (p.Gly1248Arg)	COL4A3, MFF-DT (G1248R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3256680	NM_000091.5(COL4A3):c.3902G>A (p.Gly1301Asp)	COL4A3, MFF-DT (G1301D)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3256622	NM_000091.5(COL4A3):c.3919G>A (p.Gly1307Ser)	COL4A3, MFF-DT (G1307S)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3256672	NM_000091.5(COL4A3):c.3947G>T (p.Gly1316Val)	COL4A3, MFF-DT (G1316V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3061902	NM_000091.5(COL4A3):c.3964G>T (p.Gly1322Cys)	COL4A3, MFF-DT (G1322C)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +1 more	GLikely pathogenic
Select item 3068348	NM_000091.5(COL4A3):c.4033C>G (p.Arg1345Gly)	COL4A3, MFF-DT (R1345G)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 3061892	NM_000091.5(COL4A3):c.4108G>A (p.Gly1370Arg)	COL4A3, MFF-DT (G1370R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3256639	NM_000091.5(COL4A3):c.4199G>A (p.Gly1400Glu)	COL4A3, MFF-DT (G1400E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3236369	NM_000091.5(COL4A3):c.4252G>C (p.Gly1418Arg)	COL4A3, MFF-DT (G1418R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3234031	NM_000091.5(COL4A3):c.4289G>A (p.Gly1430Glu)	COL4A3, MFF-DT (G1430E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 3234059	NM_000091.5(COL4A3):c.4357C>T (p.Gln1453Ter)	COL4A3, MFF-DT (Q1453*)	Single nucleotide variant (nonsense)	Autosomal dominant Alport syndrome	GPathogenic
Select item 3256660	NM_000091.5(COL4A3):c.4958G>A (p.Gly1653Glu)	COL4A3, MFF-DT (G1653E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 3236079	NM_000091.5(COL4A3):c.5008del (p.His1670fs)	COL4A3, MFF-DT (H1670fs)	Deletion (frameshift variant)	Autosomal dominant Alport syndrome	GPathogenic

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Items: 51