"GeneDx"[submitter] AND "COL4A6"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	See cases	GPathogenic
Select item 58666	GRCh38/hg38 Xq22.3(chrX:107523862-108265579)x3	ATG4A, COL4A6 +27 more	Copy number gain	See cases	GPathogenic
Select item 1270289	NM_033641.4(COL4A6):c.*70G>A	COL4A6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2504653	NM_033641.4(COL4A6):c.5044C>T (p.Arg1682Cys)	COL4A6 (R1625C +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1317607	NM_033641.4(COL4A6):c.4993T>C (p.Leu1665=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1272419	NM_033641.4(COL4A6):c.4813-153C>A	COL4A6	Single nucleotide variant (intron variant)	not provided	GBenign
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 1315782	NM_033641.4(COL4A6):c.4730T>C (p.Ile1577Thr)	COL4A6 (I1520T +4 more)	Single nucleotide variant (missense 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 1316841	NM_033641.4(COL4A6):c.4601A>G (p.Tyr1534Cys)	COL4A6 (Y1477C +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 499492	NM_033641.4(COL4A6):c.4359C>T (p.Phe1453=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1235080	NM_033641.4(COL4A6):c.4334-29A>T	COL4A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682799	NM_033641.4(COL4A6):c.4333+34C>G	COL4A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682771	NM_033641.4(COL4A6):c.4333+29C>G	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682770	NM_033641.4(COL4A6):c.4333+25C>G	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682769	NM_033641.4(COL4A6):c.4333+22A>G	COL4A6	Single nucleotide variant (intron 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 1317057	NM_033641.4(COL4A6):c.4217-25del	COL4A6	Deletion (intron variant)	not provided	GLikely benign
Select item 682804	NM_033641.4(COL4A6):c.4217-77A>G	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318402	NM_033641.4(COL4A6):c.4217-214del	COL4A6	Deletion (intron 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 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 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 513621	NM_033641.4(COL4A6):c.3970+3A>G	COL4A6	Single nucleotide variant (intron variant)	not specified	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 258277	NM_033641.4(COL4A6):c.3855G>A (p.Ser1285=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 1317273	NM_033641.4(COL4A6):c.3780C>T (p.Pro1260=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 258276	NM_033641.4(COL4A6):c.3760G>T (p.Ala1254Ser)	COL4A6 (A1255S +3 more)	Single nucleotide variant (missense variant)	Hearing loss, X-linked 6 +2 more	GBenign/Likely benign
Select item 1320550	NM_033641.4(COL4A6):c.3692-149G>A	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1320567	NM_033641.4(COL4A6):c.3663G>A (p.Pro1221=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1317822	NM_033641.4(COL4A6):c.3645C>T (p.Ile1215=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1226380	NM_033641.4(COL4A6):c.3566-27G>A	COL4A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 594995	NM_033641.4(COL4A6):c.3537G>A (p.Pro1179=)	COL4A6	Single nucleotide variant (synonymous variant +1 more)	Hearing loss, X-linked 6 +2 more	GBenign/Likely benign
Select item 258275	NM_033641.4(COL4A6):c.3481A>G (p.Ile1161Val)	COL4A6 (I1162V +2 more)	Single nucleotide variant (missense variant)	Hearing loss, X-linked 6 +2 more	GBenign
Select item 675897	NM_033641.4(COL4A6):c.3474C>T (p.Pro1158=)	COL4A6	Single nucleotide variant (synonymous variant)	Hearing loss, X-linked 6 +1 more	GBenign
Select item 1315713	NM_033641.4(COL4A6):c.3455T>C (p.Ile1152Thr)	COL4A6 (I1152T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 258274	NM_033641.4(COL4A6):c.3402C>T (p.Ala1134=)	COL4A6	Single nucleotide variant (synonymous variant)	Hearing loss, X-linked 6 +2 more	GBenign
Select item 258273	NM_033641.4(COL4A6):c.3373C>T (p.Pro1125Ser)	COL4A6 (P1126S +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1317277	NM_033641.4(COL4A6):c.3278-35G>T	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244453	NM_033641.4(COL4A6):c.3278-215T>C	COL4A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277326	NM_033641.4(COL4A6):c.3278-217A>G	COL4A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317983	NM_033641.4(COL4A6):c.3203-79dup	COL4A6	Duplication (intron variant)	not provided	GLikely benign
Select item 1318141	NM_033641.4(COL4A6):c.3202+123G>T	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317521	NM_033641.4(COL4A6):c.3202+38T>G	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 715056	NM_033641.4(COL4A6):c.3192A>G (p.Pro1064=)	COL4A6	Single nucleotide variant (synonymous variant)	Hearing loss, X-linked 6 +1 more	GBenign
Select item 258272	NM_033641.4(COL4A6):c.3139-4G>A	COL4A6	Single nucleotide variant (intron variant)	Hearing loss, X-linked 6 +2 more	GBenign
Select item 1277295	NM_033641.4(COL4A6):c.3139-63A>G	COL4A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683532	NM_033641.4(COL4A6):c.3138+64C>T	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1328649	NM_033641.4(COL4A6):c.3138+17C>T	COL4A6	Single nucleotide variant (intron variant)	Hearing loss, X-linked 6 +1 more	GBenign/Likely benign
Select item 258271	NM_033641.4(COL4A6):c.3078C>T (p.Gly1026=)	COL4A6	Single nucleotide variant (synonymous variant)	Hearing loss, X-linked 6 +2 more	GBenign
Select item 1317737	NM_033641.4(COL4A6):c.2957-168dup	COL4A6	Duplication (intron variant)	not provided	GLikely benign
Select item 1255397	NM_033641.4(COL4A6):c.2956+39G>A	COL4A6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1317837	NM_033641.4(COL4A6):c.2936A>G (p.Asn979Ser)	COL4A6 (N979S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 707465	NM_033641.4(COL4A6):c.2888A>T (p.Asn963Ile)	COL4A6 (N964I +2 more)	Single nucleotide variant (missense variant)	Hearing loss, X-linked 6 +1 more	GBenign
Select item 682346	NM_033641.4(COL4A6):c.2856C>T (p.Val952=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 258270	NM_033641.4(COL4A6):c.2808T>C (p.Arg936=)	COL4A6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1317185	NM_033641.4(COL4A6):c.2807G>A (p.Arg936His)	COL4A6 (R936H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1317468	NM_033641.4(COL4A6):c.2806C>T (p.Arg936Cys)	COL4A6 (R936C +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1318225	NM_033641.4(COL4A6):c.2686+80G>C	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 445729	NM_033641.4(COL4A6):c.2653G>T (p.Val885Phe)	COL4A6 (V886F +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1316327	NM_033641.4(COL4A6):c.2646T>G (p.Ser882=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1264008	NM_033641.4(COL4A6):c.2516-46A>G	COL4A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237218	NM_033641.4(COL4A6):c.2409G>A (p.Gly803=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 766981	NM_033641.4(COL4A6):c.2400C>A (p.Gly800=)	COL4A6	Single nucleotide variant (synonymous variant)	Hearing loss, X-linked 6 +1 more	GBenign
Select item 493542	NM_033641.4(COL4A6):c.2371G>A (p.Gly791Ser)	COL4A6 (G792S +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1260343	NM_033641.4(COL4A6):c.2354-123G>A	COL4A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683229	NM_033641.4(COL4A6):c.2353+56G>A	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317393	NM_033641.4(COL4A6):c.2309G>A (p.Gly770Glu)	COL4A6 (G770E +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 512463	NM_033641.4(COL4A6):c.2292C>T (p.Gly764=)	COL4A6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1262552	NM_033641.4(COL4A6):c.2131+45GT[12]	COL4A6	Microsatellite (intron variant)	not provided	GBenign
Select item 1261258	NM_033641.4(COL4A6):c.2131+45GT[11]	COL4A6	Microsatellite (intron variant)	not provided	GBenign
Select item 514981	NM_033641.4(COL4A6):c.2039G>A (p.Arg680Gln)	COL4A6 (R680Q +2 more)	Single nucleotide variant (missense variant)	Hearing loss, X-linked 6 +1 more	GBenign/Likely benign
Select item 683228	NM_033641.4(COL4A6):c.2024-32T>C	COL4A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320556	NM_033641.4(COL4A6):c.1987G>A (p.Gly663Ser)	COL4A6 (G663S +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1226939	NM_033641.4(COL4A6):c.1952-264G>T	COL4A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317626	NM_033641.4(COL4A6):c.1951+94A>G	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278580	NM_033641.4(COL4A6):c.1922C>T (p.Pro641Leu)	COL4A6 (P641L +1 more)	Single nucleotide variant (missense variant)	Hearing loss, X-linked 6 +1 more	GBenign
Select item 1316531	NM_033641.4(COL4A6):c.1917A>T (p.Gly639=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 772297	NM_033641.4(COL4A6):c.1886G>A (p.Arg629His)	COL4A6 (R629H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 683227	NM_033641.4(COL4A6):c.1768-54G>A	COL4A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275543	NM_033641.4(COL4A6):c.1768-70C>T	COL4A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252315	NM_033641.4(COL4A6):c.1768-278T>C	COL4A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 515796	NM_033641.4(COL4A6):c.1676G>A (p.Arg559Gln)	COL4A6 (R559Q +1 more)	Single nucleotide variant (missense variant)	Hearing loss, X-linked 6 +1 more	GBenign/Likely benign
Select item 1181178	NM_033641.4(COL4A6):c.1588-54T>C	COL4A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316585	NM_033641.4(COL4A6):c.1533A>G (p.Lys511=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1318336	NM_033641.4(COL4A6):c.1467C>A (p.Asn489Lys)	COL4A6 (N489K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 682306	NM_033641.4(COL4A6):c.1431C>T (p.Asp477=)	COL4A6	Single nucleotide variant (synonymous variant)	Hearing loss, X-linked 6 +1 more	GBenign
Select item 1316151	NM_033641.4(COL4A6):c.1427-95A>G	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257561	NM_033641.4(COL4A6):c.1426+219T>A	COL4A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 502185	NM_033641.4(COL4A6):c.1379G>A (p.Arg460Gln)	COL4A6 (R461Q +1 more)	Single nucleotide variant (missense variant)	Hearing loss, X-linked 6 +2 more	GBenign
Select item 500838	NM_033641.4(COL4A6):c.1379G>T (p.Arg460Leu)	COL4A6 (R461L +1 more)	Single nucleotide variant (missense variant)	Hearing loss, X-linked 6 +2 more	GBenign/Likely benign
Select item 1318345	NM_033641.4(COL4A6):c.1368C>T (p.Phe456=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 258267	NM_033641.4(COL4A6):c.1360T>C (p.Ser454Pro)	COL4A6 (S455P +1 more)	Single nucleotide variant (missense variant)	Hearing loss, X-linked 6 +2 more	GBenign
Select item 1252614	NM_033641.4(COL4A6):c.1322-16dup	COL4A6	Duplication (intron variant)	not provided	GBenign
Select item 1317242	NM_033641.4(COL4A6):c.1180+29A>T	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678419	NM_033641.4(COL4A6):c.1180+4dup	COL4A6	Duplication (intron variant)	Hearing loss, X-linked 6 +1 more	GBenign
Select item 515260	NM_033641.4(COL4A6):c.1125A>G (p.Glu375=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

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