"Fulgent Genetics, Fulgent Genetics"[submitter] AND "COL4A4"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 552827	NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp)	COL4A4 (R1682W)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 550714	NM_000092.5(COL4A4):c.5029C>T (p.Arg1677Cys)	COL4A4 (R1677C)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 599172	NM_000092.5(COL4A4):c.5015A>C (p.Glu1672Ala)	COL4A4 (E1672A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 599159	NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr)	COL4A4 (F1661Y)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 748868	NM_000092.5(COL4A4):c.4975T>C (p.Leu1659=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1620685	NM_000092.5(COL4A4):c.4971A>G (p.Ala1657=)	COL4A4	Single nucleotide variant (synonymous variant)	Benign familial hematuria +2 more	GLikely benign
Select item 593644	NM_000092.5(COL4A4):c.4962G>A (p.Thr1654=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided +3 more	GUncertain significance
Select item 1075428	NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter)	COL4A4 (W1651*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome +4 more	GPathogenic/Likely pathogenic
Select item 594208	NM_000092.5(COL4A4):c.4950C>G (p.Phe1650Leu)	COL4A4 (F1650L)	Single nucleotide variant (missense variant)	Benign familial hematuria +2 more	GUncertain significance
Select item 896978	NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly)	COL4A4 (S1649G)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 896979	NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr)	COL4A4 (H1642Y)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 334699	NM_000092.5(COL4A4):c.4862G>A (p.Ser1621Asn)	COL4A4 (S1621N)	Single nucleotide variant (missense variant)	Alport syndrome +3 more	GUncertain significance
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 1484010	NM_000092.5(COL4A4):c.4781_4807dup (p.Ser1594_Leu1602dup)	COL4A4	Duplication (inframe_insertion)	Autosomal recessive Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 763697	NM_000092.5(COL4A4):c.4803C>T (p.Phe1601=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 447190	NM_000092.5(COL4A4):c.4760C>T (p.Pro1587Leu)	COL4A4 (P1587L)	Single nucleotide variant (missense variant)	Benign familial hematuria +4 more	GConflicting classifications of pathogenicity
Select item 635545	NM_000092.5(COL4A4):c.4718C>T (p.Ala1573Val)	COL4A4 (A1573V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1068082	NM_000092.5(COL4A4):c.4717del (p.Ala1573fs)	COL4A4 (A1573fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome +3 more	GPathogenic/Likely pathogenic
Select item 634650	NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys)	COL4A4 (E1570K)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +3 more	GUncertain significance
Select item 1535086	NM_000092.5(COL4A4):c.4701G>A (p.Ala1567=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 992428	NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs)	COL4A4 (Y1562fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1029645	NM_000092.5(COL4A4):c.4660C>T (p.Leu1554Phe)	COL4A4 (L1554F)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +2 more	GUncertain significance
Select item 1458430	NM_000092.5(COL4A4):c.4646dup (p.Met1551fs)	COL4A4 (M1551fs)	Duplication (frameshift variant)	Benign familial hematuria +2 more	GPathogenic/Likely pathogenic
Select item 522505	NM_000092.5(COL4A4):c.4640C>T (p.Ala1547Val)	COL4A4 (A1547V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 557998	NM_000092.5(COL4A4):c.4623C>G (p.Tyr1541Ter)	COL4A4 (Y1541*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
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 557279	NM_000092.5(COL4A4):c.4599T>G (p.Tyr1533Ter)	COL4A4 (Y1533*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1093398	NM_000092.5(COL4A4):c.4590G>A (p.Val1530=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1072799	NM_000092.5(COL4A4):c.4544_4556del (p.Pro1515fs)	COL4A4 (P1515fs)	Deletion (frameshift variant)	Benign familial hematuria +2 more	GPathogenic/Likely pathogenic
Select item 1017229	NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr)	COL4A4 (C1513Y)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 740618	NM_000092.5(COL4A4):c.4525C>T (p.Leu1509=)	COL4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive Alport syndrome +2 more	GLikely benign
Select item 830008	NM_000092.5(COL4A4):c.4513C>G (p.Gln1505Glu)	COL4A4 (Q1505E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1073781	NM_000092.5(COL4A4):c.4449_4450dup (p.Met1484fs)	COL4A4 (M1484fs)	Duplication (frameshift variant)	Autosomal recessive Alport syndrome +2 more	GPathogenic
Select item 334704	NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met)	COL4A4 (T1474M)	Single nucleotide variant (missense variant)	Benign familial hematuria +4 more	GConflicting classifications of pathogenicity
Select item 522536	NM_000092.5(COL4A4):c.4417C>A (p.Gln1473Lys)	COL4A4 (Q1473K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 667224	NM_000092.5(COL4A4):c.4413C>G (p.His1471Gln)	COL4A4 (H1471Q)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +3 more	GUncertain significance
Select item 1107731	NM_000092.5(COL4A4):c.4278T>C (p.Pro1426=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 562414	NM_000092.5(COL4A4):c.4122del (p.Cys1375fs)	COL4A4 (C1375fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome +2 more	GPathogenic/Likely pathogenic
Select item 514048	NM_000092.5(COL4A4):c.4098G>A (p.Pro1366=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1653008	NM_000092.5(COL4A4):c.4091-18C>T	COL4A4	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +2 more	GLikely benign
Select item 255036	NM_000092.5(COL4A4):c.4080G>A (p.Pro1360=)	COL4A4	Single nucleotide variant (synonymous variant)	Alport syndrome +4 more	GBenign
Select item 1179084	NM_000092.5(COL4A4):c.3973+1G>T	COL4A4	Single nucleotide variant (splice donor variant)	Autosomal recessive Alport syndrome +2 more	GLikely pathogenic
Select item 966572	NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter)	COL4A4 (Y1311*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome +3 more	GPathogenic/Likely pathogenic
Select item 765804	NM_000092.5(COL4A4):c.3885T>C (p.Gly1295=)	COL4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive Alport syndrome +2 more	GBenign/Likely benign
Select item 1179086	NM_000092.5(COL4A4):c.3882_3883del (p.Cys1294fs)	COL4A4 (C1294fs)	Microsatellite (frameshift variant)	Autosomal recessive Alport syndrome +2 more	GPathogenic
Select item 1675253	NM_000092.5(COL4A4):c.3859C>G (p.Leu1287Val)	COL4A4 (L1287V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1219225	NM_000092.5(COL4A4):c.3818-15C>T	COL4A4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 17405	NM_000092.5(COL4A4):c.3713C>A (p.Ser1238Ter)	COL4A4 (S1238*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome +2 more	GPathogenic
Select item 964465	NM_000092.5(COL4A4):c.3704del (p.Pro1235fs)	COL4A4 (P1235fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 930120	NM_000092.5(COL4A4):c.3666T>C (p.Pro1222=)	COL4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive Alport syndrome +3 more	GLikely benign
Select item 1209088	NM_000092.5(COL4A4):c.3644C>T (p.Pro1215Leu)	COL4A4 (P1215L)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1627541	NM_000092.5(COL4A4):c.3570T>A (p.Gly1190=)	COL4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive Alport syndrome +2 more	GLikely benign
Select item 747518	NM_000092.5(COL4A4):c.3531C>T (p.Asn1177=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1179184	NM_000092.5(COL4A4):c.3451G>A (p.Gly1151Arg)	COL4A4 (G1151R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1096663	NM_000092.5(COL4A4):c.3306C>T (p.Ser1102=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 755008	NM_000092.5(COL4A4):c.3306C>G (p.Ser1102=)	COL4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive Alport syndrome +2 more	GLikely benign
Select item 1179188	NM_000092.5(COL4A4):c.3289+1G>C	COL4A4	Single nucleotide variant (splice donor variant)	Autosomal recessive Alport syndrome +1 more	GLikely pathogenic
Select item 1068238	NM_000092.5(COL4A4):c.3214+1G>A	COL4A4	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 1193399	NM_000092.5(COL4A4):c.3037C>T (p.His1013Tyr)	COL4A4 (H1013Y)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +3 more	GUncertain significance
Select item 726280	NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser)	COL4A4 (R1006S)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1179045	NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu)	COL4A4 (G1005E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 681848	NM_000092.5(COL4A4):c.3012G>A (p.Pro1004=)	COL4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive Alport syndrome +2 more	GLikely benign
Select item 522543	NM_000092.5(COL4A4):c.2969-1G>C	COL4A4	Single nucleotide variant (splice acceptor variant)	Benign familial hematuria +1 more	GLikely pathogenic
Select item 968388	NM_000092.5(COL4A4):c.2929C>G (p.Pro977Ala)	COL4A4 (P977A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1129849	NM_000092.5(COL4A4):c.2925G>A (p.Gly975=)	COL4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive Alport syndrome +2 more	GLikely benign
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 449549	NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter)	COL4A4 (S969*)	Single nucleotide variant (nonsense)	Chronic kidney disease +4 more	GPathogenic
Select item 556956	NM_000092.5(COL4A4):c.2840G>A (p.Arg947Gln)	COL4A4 (R947Q)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 562424	NM_000092.5(COL4A4):c.2826_2827insAC (p.Leu943fs)	COL4A4 (L943fs)	Insertion (frameshift variant)	Autosomal recessive Alport syndrome +2 more	GPathogenic/Likely pathogenic
Select item 599099	NM_000092.5(COL4A4):c.2756A>G (p.Glu919Gly)	COL4A4 (E919G)	Single nucleotide variant (missense variant)	Benign familial hematuria +3 more	GUncertain significance
Select item 1204697	NM_000092.5(COL4A4):c.2717-17T>C	COL4A4	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +2 more	GBenign/Likely benign
Select item 17406	NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu)	COL4A4 (G897E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1387249	NM_000092.5(COL4A4):c.2621_2647dup (p.Leu874_Gly882dup)	COL4A4	Duplication (inframe_insertion)	Autosomal recessive Alport syndrome +2 more	GUncertain significance
Select item 550471	NM_000092.5(COL4A4):c.2638del (p.Ala880fs)	COL4A4 (A880fs)	Deletion (frameshift variant)	Alport syndrome +5 more	GPathogenic
Select item 1100599	NM_000092.5(COL4A4):c.2613C>T (p.Leu871=)	COL4A4	Single nucleotide variant (synonymous variant)	Benign familial hematuria +2 more	GLikely benign
Select item 550588	NM_000092.5(COL4A4):c.2590G>A (p.Gly864Arg)	COL4A4 (G864R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GPathogenic/Likely pathogenic
Select item 727998	NM_000092.5(COL4A4):c.2546-6T>C	COL4A4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 562375	NM_000092.5(COL4A4):c.2545+2T>G	COL4A4	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 334717	NM_000092.5(COL4A4):c.2516C>T (p.Pro839Leu)	COL4A4 (P839L)	Single nucleotide variant (missense variant)	Benign familial hematuria +4 more	GConflicting classifications of pathogenicity
Select item 1104869	NM_000092.5(COL4A4):c.2383+9G>C	COL4A4	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +2 more	GLikely benign
Select item 975097	NM_000092.5(COL4A4):c.2377del (p.Ala793fs)	COL4A4 (A793fs)	Deletion (frameshift variant)	Alport syndrome +3 more	GPathogenic
Select item 1152943	NM_000092.5(COL4A4):c.2346A>G (p.Lys782=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1157879	NM_000092.5(COL4A4):c.2322T>A (p.Gly774=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 975092	NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu)	COL4A4 (G771E)	Single nucleotide variant (missense variant)	Benign familial hematuria +2 more	GConflicting classifications of pathogenicity
Select item 557121	NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser)	COL4A4 (G748S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 817981	NM_000092.5(COL4A4):c.2219dup (p.Val741fs)	COL4A4 (V741fs)	Duplication (frameshift variant)	COL4A4-related disorder +3 more	GPathogenic
Select item 635547	NM_000092.5(COL4A4):c.2171del (p.Arg724fs)	COL4A4 (R724fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 585528	NM_000092.5(COL4A4):c.2170C>T (p.Arg724Cys)	COL4A4 (R724C)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GUncertain significance
Select item 1655986	NM_000092.5(COL4A4):c.2164+19_2164+20insTTTTG	COL4A4	Microsatellite (intron variant)	not provided +2 more	GLikely benign
Select item 1809685	NM_000092.5(COL4A4):c.2164+15_2164+16insTTTG	COL4A4	Insertion (intron variant)	not provided +2 more	GLikely benign
Select item 1113836	NM_000092.5(COL4A4):c.2145G>A (p.Ala715=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1137667	NM_000092.5(COL4A4):c.2073A>G (p.Pro691=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 255018	NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile)	COL4A4 (V670I)	Single nucleotide variant (missense variant)	Alport syndrome +5 more	GBenign/Likely benign
Select item 667223	NM_000092.5(COL4A4):c.1990G>A (p.Asp664Asn)	COL4A4 (D664N)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
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 1169318	NM_000092.5(COL4A4):c.1987+16T>A	COL4A4	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome +2 more	GBenign/Likely benign
Select item 1139686	NM_000092.5(COL4A4):c.1987+8T>A	COL4A4	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1137665	NM_000092.5(COL4A4):c.1962C>T (p.Gly654=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 551238	NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del)	COL4A4	Deletion (inframe_deletion)	Autosomal recessive Alport syndrome +1 more	GLikely pathogenic
Select item 562435	NM_000092.5(COL4A4):c.1889del (p.Pro630fs)	COL4A4 (P630fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome +2 more	GPathogenic

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