ClinVar for MedGen (Select 66039) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2674612	NM_000092.5(COL4A4):c.940G>T (p.Gly314Cys)	COL4A4 (G314C)	Single nucleotide variant (missense variant)	Benign familial hematuria +1 more	GLikely pathogenic
Select item 2585321	NM_000091.5(COL4A3):c.4547G>A (p.Arg1516Gln)	COL4A3, MFF-DT (R1516Q)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GUncertain significance
Select item 2584371	NM_000092.5(COL4A4):c.1846G>C (p.Gly616Arg)	COL4A4 (G616R)	Single nucleotide variant (missense variant)	Benign familial hematuria	GLikely pathogenic
Select item 2506481	NM_000092.5(COL4A4):c.694-1G>C	COL4A4	Single nucleotide variant (splice acceptor variant)	Benign familial hematuria	GLikely pathogenic
Select item 2444126	NM_000092.5(COL4A4):c.2383+1G>T	COL4A4	Single nucleotide variant (splice donor variant)	Benign familial hematuria	GLikely pathogenic
Select item 2101958	NM_000092.5(COL4A4):c.3055G>A (p.Glu1019Lys)	COL4A4 (E1019K)	Single nucleotide variant (missense variant)	Benign familial hematuria +1 more	GUncertain significance
Select item 1809685	NM_000092.5(COL4A4):c.2164+15_2164+16insTTTG	COL4A4	Insertion (intron variant)	not provided +2 more	GLikely benign
Select item 1804101	NM_000092.5(COL4A4):c.10_11del (p.Leu4fs)	COL4A4 (L4fs)	Microsatellite (frameshift variant)	Benign familial hematuria	GLikely pathogenic
Select item 1804099	NM_000092.5(COL4A4):c.2383+1G>A	COL4A4	Single nucleotide variant (splice donor variant)	Benign familial hematuria	GLikely pathogenic
Select item 1804097	NM_000092.5(COL4A4):c.4809+1G>C	COL4A4	Single nucleotide variant (splice donor variant)	Benign familial hematuria	GLikely pathogenic
Select item 1708954	NM_000092.5(COL4A4):c.1405G>A (p.Gly469Arg)	COL4A4 (G469R)	Single nucleotide variant (missense variant)	Benign familial hematuria	GLikely pathogenic
Select item 1700016	NM_000092.5(COL4A4):c.1751G>A (p.Gly584Glu)	COL4A4 (G584E)	Single nucleotide variant (missense variant)	Benign familial hematuria	GLikely pathogenic
Select item 1700012	NM_000092.5(COL4A4):c.3647G>A (p.Gly1216Glu)	COL4A4 (G1216E)	Single nucleotide variant (missense variant)	Benign familial hematuria	GLikely pathogenic
Select item 1699904	NM_000092.5(COL4A4):c.941G>A (p.Gly314Asp)	COL4A4 (G314D)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GLikely pathogenic
Select item 1687364	NM_000092.5(COL4A4):c.489dup (p.Gly164fs)	COL4A4 (G164fs)	Duplication (frameshift variant)	Benign familial hematuria	GLikely pathogenic
Select item 1687188	NM_000092.5(COL4A4):c.1807_1816del (p.Asp603fs)	COL4A4 (D603fs)	Deletion (frameshift variant)	Benign familial hematuria	GLikely pathogenic
Select item 1678539	NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu)	COL4A3, MFF-DT (G470E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1675253	NM_000092.5(COL4A4):c.3859C>G (p.Leu1287Val)	COL4A4 (L1287V)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1673499	NM_000091.5(COL4A3):c.442-15T>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1671729	NM_000092.5(COL4A4):c.1459+16dup	COL4A4	Duplication (intron variant)	Autosomal recessive Alport syndrome +2 more	GLikely benign
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 1655986	NM_000092.5(COL4A4):c.2164+19_2164+20insTTTTG	COL4A4	Microsatellite (intron variant)	not provided +2 more	GLikely benign
Select item 1653008	NM_000092.5(COL4A4):c.4091-18C>T	COL4A4	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1645893	NM_000091.5(COL4A3):c.3211-13G>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided +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 1627541	NM_000092.5(COL4A4):c.3570T>A (p.Gly1190=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1627511	NM_000091.5(COL4A3):c.2375-18T>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Benign familial hematuria +3 more	GLikely benign
Select item 1620685	NM_000092.5(COL4A4):c.4971A>G (p.Ala1657=)	COL4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive Alport syndrome +2 more	GLikely benign
Select item 1606318	NM_000091.5(COL4A3):c.988-6C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Benign familial hematuria +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)	not provided +3 more	GBenign/Likely benign
Select item 1587262	NM_000091.5(COL4A3):c.3337+15T>C	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1579781	NM_000092.5(COL4A4):c.72-18G>A	COL4A4	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +2 more	GLikely benign
Select item 1577899	NM_000092.5(COL4A4):c.1370-17C>A	COL4A4	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1577180	NM_000092.5(COL4A4):c.1987+15dup	COL4A4	Duplication (intron variant)	Autosomal recessive Alport syndrome +2 more	GBenign/Likely 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)	Autosomal dominant Alport syndrome +3 more	GLikely benign
Select item 1543592	NM_000092.5(COL4A4):c.1176C>T (p.Leu392=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1535086	NM_000092.5(COL4A4):c.4701G>A (p.Ala1567=)	COL4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive Alport syndrome +2 more	GLikely benign
Select item 1526243	NM_000092.5(COL4A4):c.536T>G (p.Leu179Ter)	COL4A4 (L179*)	Single nucleotide variant (nonsense)	Benign familial hematuria	GLikely pathogenic
Select item 1526195	NM_000092.5(COL4A4):c.832C>T (p.Pro278Ser)	COL4A4 (P278S)	Single nucleotide variant (missense variant)	Benign familial hematuria	GUncertain significance
Select item 1524550	NM_000092.5(COL4A4):c.1204+5G>A	COL4A4	Single nucleotide variant (intron variant)	Benign familial hematuria +2 more	GUncertain significance
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 1491115	NM_000092.5(COL4A4):c.1321C>A (p.Pro441Thr)	COL4A4 (P441T)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GUncertain significance
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 1484010	NM_000092.5(COL4A4):c.4781_4807dup (p.Ser1594_Leu1602dup)	COL4A4	Duplication (inframe_insertion)	not provided +2 more	GConflicting classifications of pathogenicity
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)	not provided +3 more	GLikely pathogenic
Select item 1470896	NM_000091.5(COL4A3):c.1391G>A (p.Gly464Glu)	COL4A3, MFF-DT (G464E)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely pathogenic
Select item 1458960	NM_000092.5(COL4A4):c.1476_1477del (p.Ala493fs)	COL4A4 (A493fs)	Microsatellite (frameshift variant)	Benign familial hematuria +2 more	GPathogenic/Likely pathogenic
Select item 1458430	NM_000092.5(COL4A4):c.4646dup (p.Met1551fs)	COL4A4 (M1551fs)	Duplication (frameshift variant)	Autosomal recessive Alport syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1458417	NM_000092.5(COL4A4):c.1856G>A (p.Gly619Asp)	COL4A4 (G619D)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GPathogenic
Select item 1455985	NM_000091.5(COL4A3):c.4001G>A (p.Gly1334Glu)	COL4A3, MFF-DT (G1334E)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 1455983	NM_000091.5(COL4A3):c.3464G>A (p.Gly1155Asp)	COL4A3, MFF-DT (G1155D)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GPathogenic
Select item 1447909	NM_000091.5(COL4A3):c.2916_2917del (p.Gly973fs)	COL4A3, MFF-DT (G973fs)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic
Select item 1437089	NM_000092.5(COL4A4):c.26T>A (p.Met9Lys)	COL4A4 (M9K)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GUncertain significance
Select item 1435642	NM_000091.5(COL4A3):c.3233A>G (p.Asp1078Gly)	COL4A3, MFF-DT (D1078G)	Single nucleotide variant (missense variant)	Benign familial hematuria +3 more	GUncertain significance
Select item 1422757	NM_000091.5(COL4A3):c.1262del (p.Gly421fs)	COL4A3, MFF-DT (G421fs)	Deletion (frameshift variant)	Benign familial hematuria +4 more	GPathogenic/Likely pathogenic
Select item 1421447	NM_000091.5(COL4A3):c.1926C>T (p.Ala642=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Benign familial hematuria +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)	Benign familial hematuria +3 more	GConflicting classifications of pathogenicity
Select item 1405877	NM_000091.5(COL4A3):c.2054C>T (p.Pro685Leu)	COL4A3, MFF-DT (P685L)	Single nucleotide variant (missense variant)	Benign familial hematuria +3 more	GUncertain significance
Select item 1405021	NM_000092.5(COL4A4):c.164G>T (p.Cys55Phe)	COL4A4 (C55F)	Single nucleotide variant (missense variant)	not provided +2 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 +4 more	GUncertain significance
Select item 1398074	NM_000092.5(COL4A4):c.4612G>A (p.Asp1538Asn)	COL4A4 (D1538N)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GUncertain significance
Select item 1388462	NM_000092.5(COL4A4):c.2734G>C (p.Gly912Arg)	COL4A4 (G912R)	Single nucleotide variant (missense variant)	Benign familial hematuria +1 more	GPathogenic/Likely pathogenic
Select item 1387249	NM_000092.5(COL4A4):c.2621_2647dup (p.Leu874_Gly882dup)	COL4A4	Duplication (inframe_insertion)	not provided +2 more	GUncertain significance
Select item 1386500	NM_000091.5(COL4A3):c.25C>T (p.Pro9Ser)	COL4A3, LOC129935730 (P9S)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +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)	Autosomal dominant Alport syndrome +3 more	GPathogenic
Select item 1372591	NM_000091.5(COL4A3):c.1856G>A (p.Gly619Glu)	COL4A3, MFF-DT (G619E)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GUncertain significance
Select item 1368692	NM_000092.5(COL4A4):c.71+1del	COL4A4	Deletion (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1362430	NM_000091.5(COL4A3):c.766-5G>A	MFF-DT, COL4A3	Single nucleotide variant (intron variant)	Autosomal dominant Alport syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1360324	NM_000091.5(COL4A3):c.260C>T (p.Thr87Met)	MFF-DT, COL4A3 (T87M)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1346806	NM_000092.5(COL4A4):c.559-2A>T	COL4A4	Single nucleotide variant (splice acceptor variant)	Benign familial hematuria +2 more	GLikely pathogenic
Select item 1342910	NM_000092.5(COL4A4):c.1099+5G>A	COL4A4	Single nucleotide variant (intron variant)	Benign familial hematuria	GUncertain significance
Select item 1342110	NM_000092.5(COL4A4):c.431C>T (p.Ser144Leu)	COL4A4 (S144L)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1342007	NM_000092.5(COL4A4):c.657+2dup	COL4A4	Duplication (splice donor variant)	Benign familial hematuria	GLikely pathogenic
Select item 1342004	NM_000092.5(COL4A4):c.4151C>T (p.Ala1384Val)	COL4A4 (A1384V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1339606	NM_000091.5(COL4A3):c.3659T>G (p.Ile1220Arg)	COL4A3, MFF-DT (I1220R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1333646	NM_000092.5(COL4A4):c.2869G>A (p.Gly957Arg)	COL4A4 (G957R)	Single nucleotide variant (missense variant)	Benign familial hematuria	GUncertain significance
Select item 1333494	NM_000091.5(COL4A3):c.2498G>A (p.Gly833Asp)	COL4A3, MFF-DT (G833D)	Single nucleotide variant (missense variant)	Benign familial hematuria	GConflicting classifications of pathogenicity
Select item 1322133	NM_000092.5(COL4A4):c.1531C>T (p.Gln511Ter)	COL4A4 (Q511*)	Single nucleotide variant (nonsense)	Benign familial hematuria +2 more	GPathogenic/Likely pathogenic
Select item 1314287	NM_000092.5(COL4A4):c.64G>A (p.Gly22Ser)	COL4A4 (G22S)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GUncertain significance
Select item 1313172	NM_000092.5(COL4A4):c.133G>T (p.Gly45Cys)	COL4A4 (G45C)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1312101	NM_000092.5(COL4A4):c.4837G>A (p.Gly1613Arg)	COL4A4 (G1613R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GUncertain significance
Select item 1310278	NM_000091.5(COL4A3):c.3227C>T (p.Pro1076Leu)	COL4A3, MFF-DT (P1076L)	Single nucleotide variant (missense variant)	not provided +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)	not provided +3 more	GUncertain significance
Select item 1308634	NM_000092.5(COL4A4):c.1987+1G>A	COL4A4	Single nucleotide variant (splice donor variant)	Benign familial hematuria	GLikely pathogenic
Select item 1308460	NM_000092.5(COL4A4):c.2908C>G (p.Gln970Glu)	COL4A4 (Q970E)	Single nucleotide variant (missense variant)	not provided +2 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 1305936	NM_000092.5(COL4A4):c.-1G>A	COL4A4	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive Alport syndrome +2 more	GUncertain significance
Select item 1305780	NM_000091.5(COL4A3):c.1970C>T (p.Pro657Leu)	COL4A3, MFF-DT (P657L)	Single nucleotide variant (missense variant)	not provided +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 1303901	NM_000092.5(COL4A4):c.191G>A (p.Arg64Gln)	COL4A4 (R64Q)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GUncertain significance
Select item 1299598	NM_000092.5(COL4A4):c.3349C>A (p.Pro1117Thr)	COL4A4 (P1117T)	Single nucleotide variant (missense variant)	Benign familial hematuria	GUncertain significance

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