Related gene-specific medical variations for Gene (Select 1287) - ClinVar

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Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359602	NM_033380.3(COL4A5):c.2552C>T (p.Pro851Leu)	COL4A5 (P851L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3246332	NC_000023.10:g.(?_107863644)_(107865578_?)del	COL4A5	Deletion	not provided	GPathogenic
Select item 3246321	NC_000023.10:g.(?_107850079)_(107850142_?)del	COL4A5	Deletion	not provided	GPathogenic
Select item 3246310	NC_000023.10:g.(?_107802274)_(107869599_?)dup	COL4A5	Duplication	not provided	GUncertain significance
Select item 3246299	NC_000023.10:g.(?_107819120)_(107840818_?)dup	COL4A5	Duplication	not provided	GUncertain significance
Select item 3246288	NC_000023.10:g.(?_107793756)_(107802284_?)del	COL4A5	Deletion	not provided	GUncertain significance
Select item 3246277	NC_000023.10:g.(?_107834268)_(107840818_?)del	COL4A5	Deletion	not provided	GPathogenic
Select item 3246266	NC_000023.10:g.(?_107782956)_(107840818_?)del	COL4A5	Deletion	not provided	GPathogenic
Select item 3246255	NC_000023.10:g.(?_107829825)_(107834894_?)del	COL4A5	Deletion	not provided	GPathogenic
Select item 3246244	NC_000023.10:g.(?_107898541)_(107898707_?)del	COL4A5	Deletion	not provided	GPathogenic
Select item 3246233	NC_000023.10:g.(?_107829825)_(107829997_?)del	COL4A5	Deletion	not provided	GPathogenic
Select item 3246221	NC_000023.10:g.(?_107683356)_(107939608_?)del	COL4A5	Deletion	not provided	GPathogenic
Select item 3237405	NM_033380.3(COL4A5):c.2074C>A (p.Pro692Thr)	COL4A5 (P692T)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 3064726	NM_033380.3(COL4A5):c.3098G>A (p.Gly1033Asp)	COL4A5 (G1033D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 3062339	NM_033380.3(COL4A5):c.1862G>T (p.Gly621Val)	COL4A5 (G621V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 2688829	NM_033380.3(COL4A5):c.2767+3_2767+14del	COL4A5	Deletion (splice donor variant)	X-linked Alport syndrome	GUncertain significance
Select item 2683937	NM_033380.3(COL4A5):c.4592A>G (p.Asn1531Ser)	COL4A5 (N1525S +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 2627907	NM_033380.3(COL4A5):c.3053G>T (p.Gly1018Val)	COL4A5 (G1018V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2582724	NM_033380.3(COL4A5):c.687+4A>T	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GUncertain significance
Select item 2582403	NM_033380.3(COL4A5):c.4468T>C (p.Tyr1490His)	COL4A5 (Y1484H +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 2440324	NM_033380.3(COL4A5):c.4970C>A (p.Thr1657Asn)	COL4A5 (T1651N +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 2440323	NM_033380.3(COL4A5):c.3194A>G (p.Lys1065Arg)	COL4A5 (K1065R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 2439405	NM_033380.3(COL4A5):c.1949-3_1949delinsAGGATCCCCTGGA	COL4A5	Indel (splice acceptor variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2439396	NM_033380.3(COL4A5):c.1736G>A (p.Gly579Glu)	COL4A5 (G579E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1992370	NM_033380.3(COL4A5):c.564_598del (p.Gly189fs)	COL4A5 (G189fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 1992369	NM_033380.3(COL4A5):c.4598G>T (p.Cys1533Phe)	COL4A5 (C1527F +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1992310	NM_033380.3(COL4A5):c.2245G>A (p.Gly749Ser)	COL4A5 (G749S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 1810356	NG_011977.2:g.(5284_124140)_(145816_147960)del	COL4A5	Deletion	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1810355	NG_011977.2:g.(156309_156637)_(261456_?)del	COL4A5	Deletion	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1807133	NM_033380.3(COL4A5):c.1084G>A (p.Gly362Arg)	COL4A5 (G362R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1691826	NM_000495.5(COL4A5):c.321+5G>A	COL4A5	Single nucleotide variant	X-linked Alport syndrome	GPathogenic
Select item 1527901	NM_033380.3(COL4A5):c.2713G>C (p.Gly905Arg)	COL4A5 (G905R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1344657	NM_033380.3(COL4A5):c.2396G>A (p.Gly799Asp)	COL4A5 (G799D)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 1344647	NM_033380.3(COL4A5):c.4809T>G (p.Tyr1603Ter)	COL4A5 (Y1597* +1 more)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GPathogenic
Select item 1342942	NM_033380.3(COL4A5):c.2016_2020dup (p.Asp674fs)	COL4A5 (D674fs)	Duplication (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 1324123	NM_033380.3(COL4A5):c.4445G>A (p.Cys1482Tyr)	COL4A5 (C1476Y +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1322134	NM_033380.3(COL4A5):c.4055del (p.Pro1352fs)	COL4A5 (P1346fs +1 more)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 1256326	NM_033380.3(COL4A5):c.3940C>T (p.Gln1314Ter)	COL4A5 (Q1308* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1184579	NM_033380.3(COL4A5):c.4315+2T>A	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1179130	NM_033380.3(COL4A5):c.367G>C (p.Gly123Arg)	COL4A5 (G123R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1175714	NM_033380.3(COL4A5):c.3647C>T (p.Pro1216Leu)	COL4A5 (P1216L)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely benign
Select item 1098425	NM_033380.3(COL4A5):c.137A>G (p.Glu46Gly)	COL4A5 (E46G)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely benign
Select item 994528	NM_033380.3(COL4A5):c.3872dup (p.Asn1292fs)	COL4A5 (N1286fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 994527	NM_033380.3(COL4A5):c.2396-1G>C	COL4A5	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 994005	NM_033380.3(COL4A5):c.438+36G>T	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome +1 more	GBenign
Select item 993930	NM_033380.3(COL4A5):c.1032+25G>A	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome +1 more	GBenign
Select item 990706	NM_033380.3(COL4A5):c.142-6T>C	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GUncertain significance
Select item 980315	GRCh37/hg19 Xq22.3(chrX:107778107-107900493)x3	COL4A5	Copy number gain	not provided	GUncertain significance
Select item 974553	NM_000495.5:c.(3373+1_3374-1)_(3790+1_3791-1)dup	COL4A5	Duplication	X-linked Alport syndrome	GLikely pathogenic
Select item 972717	NM_033380.3(COL4A5):c.1967G>A (p.Gly656Asp)	COL4A5 (G656D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 931906	NM_033380.3(COL4A5):c.1033-1G>A	COL4A5	Single nucleotide variant (splice acceptor variant)	X-linked Alport syndrome	GPathogenic
Select item 931024	NM_033380.3(COL4A5):c.1483C>A (p.Gln495Lys)	COL4A5 (Q495K)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 930480	NM_033380.3(COL4A5):c.287G>T (p.Gly96Val)	COL4A5 (G96V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 869425	NM_033380.3(COL4A5):c.2892_2899dup (p.Gly967fs)	COL4A5 (G967fs)	Duplication (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 811376	NM_033380.3(COL4A5):c.875G>A (p.Gly292Glu)	COL4A5 (G292E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 692245	NM_033380.3(COL4A5):c.1648dup (p.Ile550fs)	COL4A5 (I550fs)	Duplication (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 692237	NM_033380.3(COL4A5):c.311del (p.Pro104fs)	COL4A5 (P104fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 633835	NM_033380.3(COL4A5):c.2509+2T>G	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GPathogenic
Select item 625795	GRCh37/hg19 Xq22.3(chrX:107802035-107802303)	COL4A5	Copy number loss	X-linked Alport syndrome	GPathogenic
Select item 618581	NM_033380.3(COL4A5):c.3257G>T (p.Gly1086Val)	COL4A5 (G1086V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 591785	NM_033380.3(COL4A5):c.146A>G (p.Glu49Gly)	COL4A5 (E49G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591531	NM_033380.3(COL4A5):c.572_583del (p.Pro191_Gly195delinsArg)	COL4A5	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 591513	NM_033380.3(COL4A5):c.4960T>C (p.Trp1654Arg)	COL4A5 (W1648R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591452	NM_033380.3(COL4A5):c.4155_4157del (p.Ile1386del)	COL4A5 (I1380del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 591064	NM_033380.3(COL4A5):c.4898C>T (p.Ala1633Val)	COL4A5 (A1627V +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 562443	NM_033380.3(COL4A5):c.546+4_546+7del	COL4A5	Microsatellite (splice donor variant)	not provided	GLikely pathogenic
Select item 562440	NM_033380.3(COL4A5):c.4315+1G>C	COL4A5	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 562438	NM_033380.3(COL4A5):c.530G>A (p.Gly177Asp)	COL4A5 (G177D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 562431	NM_033380.3(COL4A5):c.395G>A (p.Gly132Glu)	COL4A5 (G132E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 562428	NM_033380.3(COL4A5):c.698G>C (p.Gly233Ala)	COL4A5 (G233A)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 562405	NM_033380.3(COL4A5):c.3170G>T (p.Gly1057Val)	COL4A5 (G1057V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 562369	NM_033380.3(COL4A5):c.3409G>T (p.Gly1137Cys)	COL4A5 (G1137C)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 562348	NM_033380.3(COL4A5):c.4315G>C (p.Gly1439Arg)	COL4A5 (G1433R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 562340	NM_033380.3(COL4A5):c.2395+1G>C	COL4A5	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 562330	NM_033380.3(COL4A5):c.3017G>A (p.Gly1006Asp)	COL4A5 (G1006D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 562267	NM_033380.3(COL4A5):c.4159_4170del (p.Pro1387_Pro1390del)	COL4A5	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 562251	NM_033380.3(COL4A5):c.594dup (p.Pro199fs)	COL4A5 (P199fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 560705	NM_033380.3(COL4A5):c.4789del (p.Asp1597fs)	COL4A5 (D1591fs +1 more)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 447202	NM_033380.3(COL4A5):c.2509+5G>C	COL4A5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 235810	NM_033380.3(COL4A5):c.1339+1G>A	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 235662	NM_033380.3(COL4A5):c.2723G>A (p.Gly908Glu)	COL4A5 (G908E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GLikely pathogenic
Select item 235408	NM_033380.3(COL4A5):c.4549del (p.Arg1517fs)	COL4A5 (R1517fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 235352	NM_033380.3(COL4A5):c.2031_2038del (p.Gly678fs)	COL4A5 (G678fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 235348	NM_033380.3(COL4A5):c.1111G>A (p.Gly371Arg)	COL4A5 (G371R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 151867	GRCh38/hg38 Xq22.3(chrX:108447982-108538433)x3	COL4A5	Copy number gain	See cases	GUncertain significance
Select item 24568	NM_033380.3(COL4A5):c.2821G>T (p.Gly941Cys)	COL4A5 (G941C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 24567	NM_033380.3(COL4A5):c.2804G>A (p.Gly935Asp)	COL4A5 (G935D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 24470	NM_033380.3(COL4A5):c.1997G>A (p.Gly666Asp)	COL4A5 (G666D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 24406	NM_033380.3(COL4A5):c.1397G>A (p.Gly466Glu)	COL4A5 (G466E)	Single nucleotide variant (missense variant)	Hematuria +1 more	GLikely pathogenic
Select item 24349	NM_033380.3(COL4A5):c.956G>A (p.Gly319Asp)	COL4A5 (G319D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 24342	NM_033380.3(COL4A5):c.920G>A (p.Gly307Asp)	COL4A5 (G307D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 24303	NM_033380.3(COL4A5):c.635del (p.Pro212fs)	COL4A5 (P212fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 24291	NM_033380.3(COL4A5):c.574G>A (p.Gly192Arg)	COL4A5 (G192R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 24228	NM_033380.3(COL4A5):c.49_50del (p.Leu17fs)	COL4A5 (L17fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 10460	Multiple alleles	COL4A5	Deletion	X-linked Alport syndrome	GPathogenic
Select item 10457	NG_011977.2:g.?_(146097_162513)del	COL4A5	Deletion	X-linked Alport syndrome	GPathogenic
Select item 10456	NG_011977.2:g.(246966_251107)_?del	COL4A5	Deletion	X-linked Alport syndrome	GPathogenic
Select item 10455	COL4A5, 10-15-KB INS, 40-KB DEL	COL4A5	Indel	X-linked Alport syndrome	GPathogenic
Select item 10453	NG_011977.2:g.(239831_242576)_(252772_257824)del	COL4A5	Deletion	X-linked Alport syndrome	GPathogenic

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Items: 99