"GeneDx"[submitter] AND "COL4A5"[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 451163	NM_033380.3(COL4A5):c.-25_-8dup	COL4A5	Duplication (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2064835	NM_033380.3(COL4A5):c.32_33delinsTT (p.Gly11Val)	COL4A5 (G11V)	Indel (missense variant)	not provided	GUncertain significance
Select item 1270172	NM_033380.3(COL4A5):c.81+75dup	COL4A5	Duplication (intron variant)	not provided	GBenign
Select item 1266528	NM_033380.3(COL4A5):c.81+74_81+75dup	COL4A5	Duplication (intron variant)	not provided	GBenign
Select item 1211819	NM_033380.3(COL4A5):c.81+75del	COL4A5	Deletion (intron variant)	not provided	GLikely benign
Select item 1293846	NM_033380.3(COL4A5):c.81+128T>C	COL4A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 151867	GRCh38/hg38 Xq22.3(chrX:108447982-108538433)x3	COL4A5	Copy number gain	See cases	GUncertain significance
Select item 1293845	NM_033380.3(COL4A5):c.82-212C>T	COL4A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1305464	NM_033380.3(COL4A5):c.82G>A (p.Ala28Thr)	COL4A5 (A28T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499283	NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys)	COL4A5 (Y30C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1183549	NM_033380.3(COL4A5):c.141+257A>G	COL4A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1299615	NM_033380.3(COL4A5):c.212C>T (p.Pro71Leu)	COL4A5 (P71L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1313392	NM_033380.3(COL4A5):c.221G>T (p.Arg74Leu)	COL4A5 (R74L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1170880	NM_033380.3(COL4A5):c.232-17A>C	COL4A5	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1428941	NM_033380.3(COL4A5):c.271A>G (p.Ile91Val)	COL4A5 (I91V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GUncertain significance
Select item 1185168	NM_033380.3(COL4A5):c.276+69T>C	COL4A5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1167809	NM_033380.3(COL4A5):c.319C>T (p.Pro107Ser)	COL4A5 (P107S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1703963	NM_033380.3(COL4A5):c.364C>G (p.Pro122Ala)	COL4A5 (P122A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1697087	NM_033380.3(COL4A5):c.384+1G>A	COL4A5	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1296727	NM_033380.3(COL4A5):c.385-987_385-978del	COL4A5	Deletion (intron variant)	not provided	GBenign
Select item 1214320	NM_033380.3(COL4A5):c.385-102A>G	COL4A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200244	NM_033380.3(COL4A5):c.385-97G>A	COL4A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 266003	NM_033380.3(COL4A5):c.488T>C (p.Met163Thr)	COL4A5 (M163T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1804616	NM_033380.3(COL4A5):c.529G>T (p.Gly177Cys)	COL4A5 (G177C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1314173	NM_033380.3(COL4A5):c.547-11C>G	COL4A5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1077969	NM_033380.3(COL4A5):c.555T>C (p.Pro185=)	COL4A5	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 452664	NM_033380.3(COL4A5):c.574G>T (p.Gly192Trp)	COL4A5 (G192W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 451889	NM_033380.3(COL4A5):c.584G>T (p.Gly195Val)	COL4A5 (G195V)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 24296	NM_033380.3(COL4A5):c.609+21T>C	COL4A5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1279573	NM_033380.3(COL4A5):c.609+173_609+176del	COL4A5	Deletion (intron variant)	not provided	GBenign
Select item 1234463	NM_033380.3(COL4A5):c.610-305T>A	COL4A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186386	NM_033380.3(COL4A5):c.610-263T>C	COL4A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180131	NM_033380.3(COL4A5):c.610-229C>T	COL4A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 24302	NM_033380.3(COL4A5):c.611_612del (p.Gly204fs)	COL4A5 (G204fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1103224	NM_033380.3(COL4A5):c.639A>G (p.Gly213=)	COL4A5	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 790243	NM_033380.3(COL4A5):c.646-6C>T	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome +1 more	GBenign/Likely benign
Select item 38751	NM_033380.3(COL4A5):c.665T>G (p.Phe222Cys)	COL4A5 (F222C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 431809	NM_033380.3(COL4A5):c.679G>A (p.Gly227Ser)	COL4A5 (G227S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 432038	NM_033380.3(COL4A5):c.687+5G>A	COL4A5	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1307116	NM_033380.3(COL4A5):c.709C>T (p.Pro237Ser)	COL4A5 (P237S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1207359	NM_033380.3(COL4A5):c.780+262del	COL4A5	Deletion (intron variant)	not provided	GLikely benign
Select item 1180364	NM_033380.3(COL4A5):c.781-80T>C	COL4A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 804592	NM_033380.3(COL4A5):c.796C>G (p.Arg266Gly)	COL4A5 (R266G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 24325	NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter)	COL4A5 (R266*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1699661	NM_033380.3(COL4A5):c.812C>G (p.Pro271Arg)	COL4A5 (P271R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578285	NM_033380.3(COL4A5):c.856G>T (p.Gly286Cys)	COL4A5 (G286C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1076557	NM_033380.3(COL4A5):c.874G>A (p.Gly292Arg)	COL4A5 (G292R)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1169423	NM_033380.3(COL4A5):c.880C>T (p.Pro294Ser)	COL4A5 (P294S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 993929	NM_033380.3(COL4A5):c.891+37A>G	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome +1 more	GBenign
Select item 1189827	NM_033380.3(COL4A5):c.891+50G>A	COL4A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228563	NM_033380.3(COL4A5):c.891+83_891+84insACTT	COL4A5	Insertion (intron variant)	not provided	GBenign
Select item 504907	NM_033380.3(COL4A5):c.909T>C (p.Asp303=)	COL4A5	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1207303	NM_033380.3(COL4A5):c.937-170dup	COL4A5	Duplication (intron variant)	not provided	GLikely benign
Select item 1250378	NM_033380.3(COL4A5):c.937-171_937-170del	COL4A5	Deletion (intron variant)	not provided	GBenign
Select item 1225696	NM_033380.3(COL4A5):c.937-170del	COL4A5	Deletion (intron variant)	not provided	GBenign
Select item 24352	NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg)	COL4A5 (G325R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +2 more	GPathogenic
Select item 451503	NM_033380.3(COL4A5):c.990+1G>T	COL4A5	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 1271768	NM_033380.3(COL4A5):c.991-196C>T	COL4A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181068	NM_033380.3(COL4A5):c.991-174C>A	COL4A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184578	NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp)	COL4A5 (G334D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1189577	NM_033380.3(COL4A5):c.1033-298G>A	COL4A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1177026	NM_033380.3(COL4A5):c.1033-72C>T	COL4A5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 24358	NM_033380.3(COL4A5):c.1033-15del	COL4A5	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 222058	NM_033380.3(COL4A5):c.1033-6A>G	COL4A5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 418142	NM_033380.3(COL4A5):c.1043G>A (p.Arg348Lys)	COL4A5 (R348K)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 24364	NM_033380.3(COL4A5):c.1094G>A (p.Gly365Glu)	COL4A5 (G365E)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 24365	NM_033380.3(COL4A5):c.1095G>C (p.Gly365=)	COL4A5	Single nucleotide variant (synonymous variant)	X-linked Alport syndrome +2 more	GBenign
Select item 24367	NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter)	COL4A5 (R373*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 3373712	NM_033380.3(COL4A5):c.1139G>A (p.Gly380Asp)	COL4A5 (G380D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1190666	NM_033380.3(COL4A5):c.1165+198G>A	COL4A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269820	NM_033380.3(COL4A5):c.1165+241del	COL4A5	Deletion (intron variant)	not provided	GBenign
Select item 1260366	NM_033380.3(COL4A5):c.1165+298C>A	COL4A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 720621	NM_033380.3(COL4A5):c.1187C>T (p.Pro396Leu)	COL4A5 (P396L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1878686	NM_033380.3(COL4A5):c.1267G>T (p.Gly423Ter)	COL4A5 (G423*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3372277	NM_033380.3(COL4A5):c.1270C>T (p.Leu424Phe)	COL4A5 (L424F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 712764	NM_033380.3(COL4A5):c.1275C>T (p.Asp425=)	COL4A5	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 24393	NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg)	COL4A5 (G426R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 256277	NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp)	COL4A5 (A430D)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 24397	NM_033380.3(COL4A5):c.1294G>A (p.Gly432Arg)	COL4A5 (G432R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 24398	NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser)	COL4A5 (I444S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 24408	NM_033380.3(COL4A5):c.1414G>A (p.Gly472Arg)	COL4A5 (G472R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1197418	NM_033380.3(COL4A5):c.1423+199C>T	COL4A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 24412	NM_033380.3(COL4A5):c.1424-20T>A	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3252216	NM_033380.3(COL4A5):c.1504C>G (p.Pro502Ala)	COL4A5 (P502A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452626	NM_033380.3(COL4A5):c.1570G>T (p.Gly524Cys)	COL4A5 (G524C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 439520	NM_033380.3(COL4A5):c.1588-13T>G	COL4A5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1302394	NM_033380.3(COL4A5):c.1612C>T (p.Pro538Ser)	COL4A5 (P538S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329622	NM_033380.3(COL4A5):c.1768A>G (p.Lys590Glu)	COL4A5 (K590E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 585538	NM_033380.3(COL4A5):c.1779+1G>A	COL4A5	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 1229445	NM_033380.3(COL4A5):c.1780-247G>A	COL4A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2053049	NM_033380.3(COL4A5):c.1780-2A>G	COL4A5	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3367289	NM_033380.3(COL4A5):c.1807G>C (p.Gly603Arg)	COL4A5 (G603R)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1703357	NM_033380.3(COL4A5):c.1808G>T (p.Gly603Val)	COL4A5 (G603V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1633303	NM_033380.3(COL4A5):c.1813C>A (p.Pro605Thr)	COL4A5 (P605T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1191044	NM_033380.3(COL4A5):c.1861G>A (p.Gly621Ser)	COL4A5 (G621S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 426808	NM_033380.3(COL4A5):c.1869del (p.Gly624fs)	COL4A5 (G624fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 24455	NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	COL4A5 (G624D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +4 more	GPathogenic/Likely pathogenic
Select item 1308261	NM_033380.3(COL4A5):c.1890A>G (p.Pro630=)	COL4A5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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