"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "COL4A6" - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2811816	NM_033641.4(COL4A6):c.5042G>A (p.Ser1681Asn)	COL4A6 (S1682N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1566349	NM_033641.4(COL4A6):c.4974G>A (p.Glu1658=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2724598	NM_033641.4(COL4A6):c.4900G>A (p.Glu1634Lys)	COL4A6 (E1651K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501622	NM_033641.4(COL4A6):c.4899C>G (p.Ile1633Met)	COL4A6 (I1633M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796383	NM_033641.4(COL4A6):c.4881dup (p.Arg1628fs)	COL4A6 (R1628fs +4 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2703840	NM_033641.4(COL4A6):c.4831G>C (p.Glu1611Gln)	COL4A6 (E1611Q +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1972348	NM_033641.4(COL4A6):c.4813-3C>T	COL4A6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1408012	NM_033641.4(COL4A6):c.4813-9_4813-6del	COL4A6	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1561541	NM_033641.4(COL4A6):c.4812+16G>C	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 258280	NM_033641.4(COL4A6):c.4812+8C>T	COL4A6	Single nucleotide variant (intron variant)	Hearing loss, X-linked 6 +2 more	GBenign
Select item 1465768	NM_033641.4(COL4A6):c.4812+5G>T	COL4A6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1361072	NM_033641.4(COL4A6):c.4810A>C (p.Met1604Leu)	COL4A6 (M1547L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918406	NM_033641.4(COL4A6):c.4809C>T (p.Leu1603=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1631055	NM_033641.4(COL4A6):c.4761G>A (p.Pro1587=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1601686	NM_033641.4(COL4A6):c.4758C>T (p.Ile1586=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2114931	NM_033641.4(COL4A6):c.4743C>T (p.Ser1581=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965699	NM_033641.4(COL4A6):c.4740C>T (p.His1580=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003568	NM_033641.4(COL4A6):c.4737G>A (p.Val1579=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1478119	NM_033641.4(COL4A6):c.4667G>A (p.Ser1556Asn)	COL4A6 (S1499N +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1381122	NM_033641.4(COL4A6):c.4663G>A (p.Val1555Ile)	COL4A6 (V1556I +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1973252	NM_033641.4(COL4A6):c.4644C>A (p.Ala1548=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 982952	NM_033641.4(COL4A6):c.4642G>A (p.Ala1548Thr)	COL4A6 (A1491T +4 more)	Single nucleotide variant (missense variant)	Hearing loss, X-linked 6 +3 more	GConflicting classifications of pathogenicity
Select item 1532740	NM_033641.4(COL4A6):c.4623T>C (p.Ser1541=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 513663	NM_033641.4(COL4A6):c.4609C>T (p.Arg1537Cys)	COL4A6 (R1537C +4 more)	Single nucleotide variant (missense variant)	Hearing loss, X-linked 6 +1 more	GBenign
Select item 725957	NM_033641.4(COL4A6):c.4550G>A (p.Arg1517His)	COL4A6 (R1460H +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1719990	NM_033641.4(COL4A6):c.4548_4549delinsTG (p.Arg1517Gly)	COL4A6 (R1460G +4 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1905922	NM_033641.4(COL4A6):c.4531G>T (p.Ala1511Ser)	COL4A6 (A1487S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2743908	NM_033641.4(COL4A6):c.4525+17A>C	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 258279	NM_033641.4(COL4A6):c.4525+14C>G	COL4A6	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2920216	NM_033641.4(COL4A6):c.4525+12C>T	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896144	NM_033641.4(COL4A6):c.4521C>T (p.Asp1507=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2724432	NM_033641.4(COL4A6):c.4516C>T (p.Gln1506Ter)	COL4A6 (Q1449* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1622302	NM_033641.4(COL4A6):c.4488T>C (p.Phe1496=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 767502	NM_033641.4(COL4A6):c.4482A>G (p.Leu1494=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962901	NM_033641.4(COL4A6):c.4452G>A (p.Gly1484=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2512804	NM_033641.4(COL4A6):c.4450G>A (p.Gly1484Arg)	COL4A6 (G1460R +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1598594	NM_033641.4(COL4A6):c.4425G>A (p.Ser1475=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2195057	NM_033641.4(COL4A6):c.4413G>A (p.Lys1471=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187651	NM_033641.4(COL4A6):c.4408G>A (p.Val1470Ile)	COL4A6 (V1471I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1265907	NM_033641.4(COL4A6):c.4404G>A (p.Thr1468=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2764428	NM_033641.4(COL4A6):c.4399T>C (p.Tyr1467His)	COL4A6 (Y1410H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986746	NM_033641.4(COL4A6):c.4375C>A (p.Pro1459Thr)	COL4A6 (P1459T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695255	NM_033641.4(COL4A6):c.4367C>T (p.Pro1456Leu)	COL4A6 (P1399L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499492	NM_033641.4(COL4A6):c.4359C>T (p.Phe1453=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2756228	NM_033641.4(COL4A6):c.4358T>C (p.Phe1453Ser)	COL4A6 (F1429S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162542	NM_033641.4(COL4A6):c.4350A>G (p.Gln1450=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750291	NM_033641.4(COL4A6):c.4348C>A (p.Gln1450Lys)	COL4A6 (Q1467K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868921	NM_033641.4(COL4A6):c.4345C>A (p.Gln1449Lys)	COL4A6 (Q1392K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175718	NM_033641.4(COL4A6):c.4344G>A (p.Gly1448=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000834	NM_033641.4(COL4A6):c.4333+19A>G	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2726276	NM_033641.4(COL4A6):c.4333+19A>C	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2196149	NM_033641.4(COL4A6):c.4333+19A>T	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868709	NM_033641.4(COL4A6):c.4333+18T>G	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2198983	NM_033641.4(COL4A6):c.4333+16A>T	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2111616	NM_033641.4(COL4A6):c.4333+10dup	COL4A6	Duplication (intron variant)	not provided	GLikely benign
Select item 2150001	NM_033641.4(COL4A6):c.4333+9A>G	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900048	NM_033641.4(COL4A6):c.4323A>T (p.Pro1441=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 767178	NM_033641.4(COL4A6):c.4299T>A (p.Gly1433=)	COL4A6	Single nucleotide variant (synonymous variant)	Hearing loss, X-linked 6 +1 more	GBenign
Select item 1919877	NM_033641.4(COL4A6):c.4285C>T (p.Leu1429Phe)	COL4A6 (L1429F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959017	NM_033641.4(COL4A6):c.4284T>C (p.Ala1428=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2191526	NM_033641.4(COL4A6):c.4265T>C (p.Leu1422Pro)	COL4A6 (L1398P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1366411	NM_033641.4(COL4A6):c.4243G>A (p.Gly1415Ser)	COL4A6 (G1416S +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2142128	NM_033641.4(COL4A6):c.4240C>G (p.Pro1414Ala)	COL4A6 (P1357A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138842	NM_033641.4(COL4A6):c.4239C>T (p.Ile1413=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1646381	NM_033641.4(COL4A6):c.4224A>G (p.Lys1408=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2027418	NM_033641.4(COL4A6):c.4217-7C>G	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847871	NM_033641.4(COL4A6):c.4182G>A (p.Gly1394=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2150006	NM_033641.4(COL4A6):c.4168C>A (p.Pro1390Thr)	COL4A6 (P1366T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827958	NM_033641.4(COL4A6):c.4143G>A (p.Leu1381=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1485760	NM_033641.4(COL4A6):c.4111G>A (p.Ala1371Thr)	COL4A6 (A1314T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074203	NM_033641.4(COL4A6):c.4086A>G (p.Gln1362=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 258278	NM_033641.4(COL4A6):c.4082T>C (p.Leu1361Pro)	COL4A6 (L1362P +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2714337	NM_033641.4(COL4A6):c.4076C>A (p.Ser1359Tyr)	COL4A6 (S1302Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316821	NM_033641.4(COL4A6):c.4073C>T (p.Ser1358Phe)	COL4A6 (S1301F +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2198605	NM_033641.4(COL4A6):c.4072T>C (p.Ser1358Pro)	COL4A6 (S1359P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897037	NM_033641.4(COL4A6):c.4070-10C>T	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318400	NM_033641.4(COL4A6):c.4070-17C>T	COL4A6	Single nucleotide variant (intron variant)	Hearing loss, X-linked 6 +1 more	GBenign/Likely benign
Select item 2813915	NM_033641.4(COL4A6):c.4050G>A (p.Lys1350=)	COL4A6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1532862	NM_033641.4(COL4A6):c.4041C>T (p.Pro1347=)	COL4A6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1928730	NM_033641.4(COL4A6):c.3995T>G (p.Met1332Arg)	COL4A6 (M1332R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2770144	NM_033641.4(COL4A6):c.3971-10del	COL4A6	Deletion (intron variant)	not provided	GLikely benign
Select item 1578675	NM_033641.4(COL4A6):c.3970+19C>T	COL4A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2194036	NM_033641.4(COL4A6):c.3970+5G>A	COL4A6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2760947	NM_033641.4(COL4A6):c.3942T>C (p.Ser1314=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2197402	NM_033641.4(COL4A6):c.3913A>G (p.Lys1305Glu)	COL4A6 (K1322E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801537	NM_033641.4(COL4A6):c.3888T>G (p.Pro1296=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 667558	NM_033641.4(COL4A6):c.3886C>T (p.Pro1296Ser)	COL4A6 (P1297S +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1628344	NM_033641.4(COL4A6):c.3871G>A (p.Gly1291Arg)	COL4A6 (G1267R +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1673345	NM_033641.4(COL4A6):c.3870C>T (p.Thr1290=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 258277	NM_033641.4(COL4A6):c.3855G>A (p.Ser1285=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1905110	NM_033641.4(COL4A6):c.3838C>T (p.Pro1280Ser)	COL4A6 (P1256S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2156685	NM_033641.4(COL4A6):c.3829C>T (p.Pro1277Ser)	COL4A6 (P1253S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064888	NM_033641.4(COL4A6):c.3823G>A (p.Ala1275Thr)	COL4A6 (A1292T +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1386645	NM_033641.4(COL4A6):c.3823G>C (p.Ala1275Pro)	COL4A6 (A1276P +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 771813	NM_033641.4(COL4A6):c.3822C>T (p.Pro1274=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1584655	NM_033641.4(COL4A6):c.3816A>C (p.Pro1272=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1523887	NM_033641.4(COL4A6):c.3812G>A (p.Arg1271His)	COL4A6 (R1271H +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1240869	NM_033641.4(COL4A6):c.3809-14G>A	COL4A6	Single nucleotide variant (intron variant)	Hearing loss, X-linked 6 +1 more	GBenign
Select item 1422464	NM_033641.4(COL4A6):c.3805C>T (p.Arg1269Ter)	COL4A6 (R1286* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2594886	NM_033641.4(COL4A6):c.3785G>A (p.Arg1262Gln)	COL4A6 (R1263Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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