ClinVar for MedGen (Select 1648326) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3234106	NM_000091.5(COL4A3):c.1271G>T (p.Gly424Val)	MFF-DT, COL4A3 (G424V)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3066088	NM_000091.5(COL4A3):c.123_124delinsAA (p.Cys41_Asp42delinsTer)	MFF-DT, COL4A3 (C41*)	Indel (nonsense)	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	GLikely pathogenic
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 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 2691896	NM_000092.5(COL4A4):c.3389G>T (p.Gly1130Val)	COL4A4 (G1130V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 2664805	NM_000091.5(COL4A3):c.1788_1823del (p.Pro598_Pro609del)	COL4A3, MFF-DT	Deletion (inframe_deletion)	Autosomal dominant Alport syndrome +1 more	GUncertain significance
Select item 2577463	NM_000092.5(COL4A4):c.3909del (p.Gly1304fs)	COL4A4 (G1304fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2577416	NC_000002.12:g.227101910del	COL4A4	Deletion	Autosomal dominant Alport syndrome	GPathogenic
Select item 2572638	NM_000091.5(COL4A3):c.1087G>T (p.Gly363Trp)	COL4A3, MFF-DT (G363W)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 2506471	NM_000091.5(COL4A3):c.1758+3del	COL4A3, MFF-DT	Deletion (splice donor variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 2444399	NM_000091.5(COL4A3):c.2863G>A (p.Gly955Arg)	COL4A3, MFF-DT (G955R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 2443033	NM_000091.5(COL4A3):c.814C>T (p.Pro272Ser)	COL4A3, MFF-DT (P272S)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GUncertain significance
Select item 2416698	NM_000091.5(COL4A3):c.3949G>A (p.Val1317Met)	COL4A3, MFF-DT (V1317M)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +1 more	GUncertain significance
Select item 1804095	NM_000091.5(COL4A3):c.2711G>A (p.Gly904Glu)	COL4A3, MFF-DT (G904E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 1804093	NM_000091.5(COL4A3):c.1814G>T (p.Gly605Val)	COL4A3, MFF-DT (G605V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 1804092	NM_000091.5(COL4A3):c.370G>C (p.Gly124Arg)	COL4A3, MFF-DT (G124R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 1704411	NM_000091.5(COL4A3):c.3071G>T (p.Gly1024Val)	COL4A3, MFF-DT (G1024V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 1699903	NM_000091.5(COL4A3):c.2330G>A (p.Gly777Asp)	COL4A3, MFF-DT (G777D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1691504	NM_000091.5(COL4A3):c.944G>A (p.Gly315Asp)	COL4A3, MFF-DT (G315D)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 1683494	NM_000092.5(COL4A4):c.165C>A (p.Cys55Ter)	COL4A4 (C55*)	Single nucleotide variant (nonsense)	Autosomal dominant Alport syndrome	GPathogenic
Select item 1678539	NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu)	COL4A3, MFF-DT (G470E)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1676243	NM_000091.5(COL4A3):c.2648G>A (p.Gly883Glu)	COL4A3, MFF-DT (G883E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 1676233	NM_000092.5(COL4A4):c.4760dup (p.Cys1588fs)	COL4A4 (C1588fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1673499	NM_000091.5(COL4A3):c.442-15T>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +3 more	GBenign/Likely benign
Select item 1671124	NM_000091.5(COL4A3):c.274G>A (p.Val92Ile)	COL4A3, MFF-DT (V92I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1667904	NM_000091.5(COL4A3):c.3211-7A>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1645893	NM_000091.5(COL4A3):c.3211-13G>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome +3 more	GLikely benign
Select item 1633505	NM_000091.5(COL4A3):c.1311G>C (p.Pro437=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1627511	NM_000091.5(COL4A3):c.2375-18T>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome +3 more	GLikely benign
Select item 1606318	NM_000091.5(COL4A3):c.988-6C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome +3 more	GLikely benign
Select item 1597429	NM_000091.5(COL4A3):c.325-20G>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1593409	NM_000091.5(COL4A3):c.888+17G>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome +3 more	GBenign/Likely benign
Select item 1587262	NM_000091.5(COL4A3):c.3337+15T>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome +3 more	GLikely benign
Select item 1573498	NM_000091.5(COL4A3):c.1115-12A>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome +3 more	GLikely benign
Select item 1573014	NM_000091.5(COL4A3):c.2125+14T>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1513666	NM_000091.5(COL4A3):c.568T>C (p.Phe190Leu)	COL4A3, MFF-DT (F190L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1512833	NM_000091.5(COL4A3):c.2330G>T (p.Gly777Val)	COL4A3, MFF-DT (G777V)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1501517	NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser)	COL4A3, MFF-DT (G532S)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely pathogenic
Select item 1499344	NM_000091.5(COL4A3):c.234+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided +3 more	GLikely pathogenic
Select item 1496550	NM_000091.5(COL4A3):c.1114+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided +3 more	GLikely pathogenic
Select item 1488700	NM_000091.5(COL4A3):c.3463G>A (p.Gly1155Ser)	COL4A3, MFF-DT (G1155S)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely pathogenic
Select item 1482636	NM_000091.5(COL4A3):c.2033C>A (p.Ser678Tyr)	COL4A3, MFF-DT (S678Y)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1476679	NM_000091.5(COL4A3):c.3070+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	Autosomal dominant Alport syndrome +3 more	GLikely pathogenic
Select item 1470896	NM_000091.5(COL4A3):c.1391G>A (p.Gly464Glu)	MFF-DT, COL4A3 (G464E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GLikely pathogenic
Select item 1455985	NM_000091.5(COL4A3):c.4001G>A (p.Gly1334Glu)	COL4A3, MFF-DT (G1334E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +4 more	GPathogenic
Select item 1455983	NM_000091.5(COL4A3):c.3464G>A (p.Gly1155Asp)	COL4A3, MFF-DT (G1155D)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 1447909	NM_000091.5(COL4A3):c.2916_2917del (p.Gly973fs)	COL4A3, MFF-DT (G973fs)	Microsatellite (frameshift variant)	Autosomal dominant Alport syndrome +3 more	GPathogenic
Select item 1435642	NM_000091.5(COL4A3):c.3233A>G (p.Asp1078Gly)	COL4A3, MFF-DT (D1078G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1422757	NM_000091.5(COL4A3):c.1262del (p.Gly421fs)	COL4A3, MFF-DT (G421fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1421447	NM_000091.5(COL4A3):c.1926C>T (p.Ala642=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided +3 more	GUncertain significance
Select item 1408657	NM_000091.5(COL4A3):c.2740C>A (p.Gln914Lys)	COL4A3, MFF-DT (Q914K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1405877	NM_000091.5(COL4A3):c.2054C>T (p.Pro685Leu)	MFF-DT, COL4A3 (P685L)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GUncertain significance
Select item 1402223	NM_000091.5(COL4A3):c.3395C>A (p.Pro1132His)	COL4A3, MFF-DT (P1132H)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GUncertain significance
Select item 1386500	NM_000091.5(COL4A3):c.25C>T (p.Pro9Ser)	COL4A3, LOC129935730 (P9S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1375749	NM_000091.5(COL4A3):c.3619G>A (p.Gly1207Arg)	COL4A3, MFF-DT (G1207R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 1372591	NM_000091.5(COL4A3):c.1856G>A (p.Gly619Glu)	MFF-DT, COL4A3 (G619E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GUncertain significance
Select item 1362430	NM_000091.5(COL4A3):c.766-5G>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	COL4A3-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1360324	NM_000091.5(COL4A3):c.260C>T (p.Thr87Met)	COL4A3, MFF-DT (T87M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1355638	NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg)	COL4A3, MFF-DT (G458R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1344659	NM_033380.3(COL4A5):c.1423+1G>T	COL4A5	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1344657	NM_033380.3(COL4A5):c.2396G>A (p.Gly799Asp)	COL4A5 (G799D)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 1342003	NM_000091.5(COL4A3):c.2188G>C (p.Gly730Arg)	COL4A3, MFF-DT (G730R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 1342002	NM_000091.5(COL4A3):c.593G>T (p.Gly198Val)	COL4A3, MFF-DT (G198V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 1342000	NM_000091.5(COL4A3):c.4717G>A (p.Gly1573Ser)	COL4A3, MFF-DT (G1573S)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 1341999	NM_000091.5(COL4A3):c.1021C>T (p.Arg341Cys)	COL4A3, MFF-DT (R341C)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +2 more	GUncertain significance
Select item 1341998	NM_000091.5(COL4A3):c.416G>A (p.Gly139Glu)	COL4A3, MFF-DT (G139E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 1341997	NM_000091.5(COL4A3):c.2711G>T (p.Gly904Val)	COL4A3, MFF-DT (G904V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 1339606	NM_000091.5(COL4A3):c.3659T>G (p.Ile1220Arg)	COL4A3, MFF-DT (I1220R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GUncertain significance
Select item 1334534	NM_000092.5(COL4A4):c.4349_4366del (p.Ile1450_Pro1455del)	COL4A4	Deletion (inframe_deletion)	Autosomal dominant Alport syndrome +1 more	GLikely pathogenic
Select item 1333468	NM_000091.5(COL4A3):c.2584G>C (p.Gly862Arg)	COL4A3, MFF-DT (G862R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 1330265	NM_000091.5(COL4A3):c.880G>C (p.Gly294Arg)	COL4A3, MFF-DT (G294R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 1310278	NM_000091.5(COL4A3):c.3227C>T (p.Pro1076Leu)	COL4A3, MFF-DT (P1076L)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +4 more	GUncertain significance
Select item 1310107	NM_000091.5(COL4A3):c.3252A>T (p.Glu1084Asp)	COL4A3, MFF-DT (E1084D)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GUncertain significance
Select item 1307444	NM_000091.5(COL4A3):c.587C>T (p.Pro196Leu)	COL4A3, MFF-DT (P196L)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GUncertain significance
Select item 1305780	NM_000091.5(COL4A3):c.1970C>T (p.Pro657Leu)	COL4A3, MFF-DT (P657L)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GUncertain significance
Select item 1304000	NM_000091.5(COL4A3):c.11G>A (p.Arg4Gln)	COL4A3, LOC129935730 (R4Q)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GUncertain significance
Select item 1298377	NM_000091.5(COL4A3):c.2135G>T (p.Gly712Val)	COL4A3, MFF-DT (G712V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 1246467	NM_000091.5(COL4A3):c.3419-4del	COL4A3, MFF-DT	Deletion (intron variant)	Autosomal recessive Alport syndrome +2 more	GBenign
Select item 1216278	NM_000091.5(COL4A3):c.2489-18T>A	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome +3 more	GBenign/Likely benign
Select item 1209573	NM_000091.5(COL4A3):c.583G>A (p.Gly195Ser)	COL4A3, MFF-DT (G195S)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GAffects
Select item 1205473	NM_000091.5(COL4A3):c.3200C>T (p.Pro1067Leu)	COL4A3, MFF-DT (P1067L)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GUncertain significance
Select item 1203930	NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser)	COL4A3, MFF-DT (G230S)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GLikely pathogenic

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