ClinVar for MedGen (Select 339209) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377506	NM_000091.5(COL4A3):c.226G>A (p.Gly76Arg)	COL4A3, MFF-DT (G76R)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 3377497	NM_000092.5(COL4A4):c.3098G>A (p.Gly1033Asp)	COL4A4 (G1033D)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 3377452	NM_000092.5(COL4A4):c.4705T>G (p.Cys1569Gly)	COL4A4 (C1569G)	Single nucleotide variant (missense variant)	Alport syndrome	GUncertain significance
Select item 3377399	NM_000092.5(COL4A4):c.3213_3214+3del	COL4A4	Deletion (splice donor variant)	Alport syndrome	GLikely pathogenic
Select item 3377388	NM_000091.5(COL4A3):c.1927+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	Alport syndrome	GLikely pathogenic
Select item 3377381	NM_000092.5(COL4A4):c.1442G>T (p.Gly481Val)	COL4A4 (G481V)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 3377380	NM_000091.5(COL4A3):c.2504C>G (p.Thr835Arg)	COL4A3, MFF-DT (T835R)	Single nucleotide variant (missense variant)	Alport syndrome	GUncertain significance
Select item 3377379	NM_000091.5(COL4A3):c.2044T>G (p.Cys682Gly)	COL4A3, MFF-DT (C682G)	Single nucleotide variant (missense variant)	Alport syndrome	GUncertain significance
Select item 3377376	NM_000091.5(COL4A3):c.3655G>T (p.Gly1219Cys)	COL4A3, MFF-DT (G1219C)	Single nucleotide variant (missense variant)	Alport syndrome	GPathogenic
Select item 3377374	NM_000092.5(COL4A4):c.3497G>A (p.Gly1166Glu)	COL4A4 (G1166E)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 3377372	NM_000091.5(COL4A3):c.2125G>T (p.Gly709Ter)	COL4A3, MFF-DT (G709*)	Single nucleotide variant (nonsense)	Alport syndrome	GPathogenic
Select item 3377044	NM_000092.5(COL4A4):c.2545G>A (p.Gly849Ser)	COL4A4 (G849S)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 3377043	NM_000091.5(COL4A3):c.689G>A (p.Gly230Asp)	COL4A3, MFF-DT (G230D)	Single nucleotide variant (missense variant)	Alport syndrome	GPathogenic
Select item 3377042	NM_000092.5(COL4A4):c.3743del (p.Gly1248fs)	COL4A4 (G1248fs)	Deletion (frameshift variant)	Alport syndrome	GPathogenic
Select item 3377041	NM_000092.5(COL4A4):c.3817G>T (p.Gly1273Ter)	COL4A4 (G1273*)	Single nucleotide variant (nonsense)	Alport syndrome	GPathogenic
Select item 3377039	NM_000091.5(COL4A3):c.3283G>A (p.Gly1095Arg)	COL4A3, MFF-DT (G1095R)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 3377038	NM_000092.5(COL4A4):c.2716+5G>C	COL4A4	Single nucleotide variant (intron variant)	Alport syndrome	GUncertain significance
Select item 3377036	NM_000091.5(COL4A3):c.2657G>A (p.Gly886Asp)	COL4A3, MFF-DT (G886D)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 3377035	NM_000092.5(COL4A4):c.558+1del	COL4A4	Deletion (splice donor variant)	Alport syndrome	GLikely pathogenic
Select item 3377034	NM_000091.5(COL4A3):c.4349G>A (p.Arg1450Gln)	COL4A3, MFF-DT (R1450Q)	Single nucleotide variant (missense variant)	Alport syndrome	GUncertain significance
Select item 3377033	NM_000092.5(COL4A4):c.3398-1G>C	COL4A4	Single nucleotide variant (splice acceptor variant)	Alport syndrome	GLikely pathogenic
Select item 3377032	NM_000092.5(COL4A4):c.4249_4250del (p.Arg1417fs)	COL4A4 (R1417fs)	Deletion (frameshift variant)	Alport syndrome	GPathogenic
Select item 3377030	NM_000091.5(COL4A3):c.3683G>A (p.Gly1228Asp)	COL4A3, MFF-DT (G1228D)	Single nucleotide variant (missense variant)	Alport syndrome	GPathogenic
Select item 3376902	NM_000092.5(COL4A4):c.1259G>A (p.Gly420Glu)	COL4A4 (G420E)	Single nucleotide variant (missense variant)	Alport syndrome +1 more	GLikely pathogenic
Select item 3376897	NM_000091.5(COL4A3):c.619G>C (p.Gly207Arg)	COL4A3, MFF-DT (G207R)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 3376832	NM_000092.5(COL4A4):c.818G>A (p.Gly273Asp)	COL4A4 (G273D)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 3376830	NM_000092.5(COL4A4):c.3697G>C (p.Gly1233Arg)	COL4A4 (G1233R)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 3376828	NM_000092.5(COL4A4):c.4027G>A (p.Gly1343Arg)	COL4A4 (G1343R)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 3376827	NM_000091.5(COL4A3):c.637G>C (p.Gly213Arg)	COL4A3, MFF-DT (G213R)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 3376730	NM_000092.5(COL4A4):c.129C>G (p.Tyr43Ter)	COL4A4 (Y43*)	Single nucleotide variant (nonsense)	Alport syndrome	GPathogenic
Select item 3376729	NM_000092.5(COL4A4):c.1267G>A (p.Gly423Ser)	COL4A4 (G423S)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 3376728	NM_000092.5(COL4A4):c.4333+2T>G	COL4A4	Single nucleotide variant (splice donor variant)	Alport syndrome	GPathogenic
Select item 3376727	NM_000092.5(COL4A4):c.4333+5A>C	COL4A4	Single nucleotide variant (intron variant)	Alport syndrome	GUncertain significance
Select item 3376725	NM_000091.5(COL4A3):c.2961_2978del (p.Ala990_Pro995del)	COL4A3, MFF-DT	Deletion (inframe_indel)	Alport syndrome	GLikely pathogenic
Select item 3376724	NM_000092.5(COL4A4):c.4334-44_4334-6del	COL4A4	Deletion (intron variant)	Alport syndrome	GUncertain significance
Select item 3376723	NM_000091.5(COL4A3):c.2470G>A (p.Gly824Arg)	COL4A3, MFF-DT (G824R)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 3376705	NM_000092.5(COL4A4):c.1979G>A (p.Gly660Asp)	COL4A4 (G660D)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 3376678	NM_000092.5(COL4A4):c.3052G>C (p.Gly1018Arg)	COL4A4 (G1018R)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 3376654	NM_000092.5(COL4A4):c.1535G>T (p.Gly512Val)	COL4A4 (G512V)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 3376646	NM_000092.5(COL4A4):c.1723_1729delinsCCCAT (p.Gly575fs)	COL4A4 (G575fs)	Indel (frameshift variant)	Alport syndrome	GPathogenic
Select item 3376632	NM_000092.5(COL4A4):c.2437G>A (p.Gly813Arg)	COL4A4 (G813R)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 3376618	NM_000091.5(COL4A3):c.2294G>A (p.Gly765Glu)	COL4A3, MFF-DT (G765E)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 3376587	NM_000092.5(COL4A4):c.74C>G (p.Ser25Ter)	COL4A4 (S25*)	Single nucleotide variant (nonsense)	Alport syndrome	GPathogenic
Select item 3376574	NM_000092.5(COL4A4):c.1030G>A (p.Gly344Arg)	COL4A4 (G344R)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 3376550	NM_000092.5(COL4A4):c.3715G>A (p.Gly1239Arg)	COL4A4 (G1239R)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 3147598	NM_000092.5(COL4A4):c.2447G>A (p.Gly816Glu)	COL4A4 (G816E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3068591	NM_000091.5(COL4A3):c.1787G>T (p.Gly596Val)	COL4A3, MFF-DT (G596V)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 3061902	NM_000091.5(COL4A3):c.3964G>T (p.Gly1322Cys)	COL4A3, MFF-DT (G1322C)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +1 more	GLikely pathogenic
Select item 3027425	NM_033380.3(COL4A5):c.1584_1587+6del	COL4A5	Deletion (splice donor variant)	Alport syndrome	GLikely pathogenic
Select item 3027420	NM_033380.3(COL4A5):c.4455_4465del (p.Thr1486fs)	COL4A5 (T1480fs +1 more)	Deletion (frameshift variant)	Alport syndrome	GPathogenic
Select item 2852482	NM_000091.5(COL4A3):c.610-1G>C	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	Alport syndrome +1 more	GLikely pathogenic
Select item 2775428	NM_033380.3(COL4A5):c.4352G>A (p.Gly1451Glu)	COL4A5 (G1445E +1 more)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 2775424	NM_000092.5(COL4A4):c.192+1G>A	COL4A4	Single nucleotide variant (splice donor variant)	Alport syndrome	GUncertain significance
Select item 2734421	NM_000091.5(COL4A3):c.2980+1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2734406	NM_000092.5(COL4A4):c.3289+1G>A	COL4A4	Single nucleotide variant (splice donor variant)	Alport syndrome +1 more	GPathogenic
Select item 2733411	NM_000092.5(COL4A4):c.1051C>T (p.His351Tyr)	COL4A4 (H351Y)	Single nucleotide variant (missense variant)	Alport syndrome +1 more	GUncertain significance
Select item 2731165	NM_000091.5(COL4A3):c.1408+1G>C	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	Alport syndrome +1 more	GPathogenic
Select item 2664853	NM_000092.5(COL4A4):c.930+5G>A	COL4A4	Single nucleotide variant (intron variant)	Alport syndrome	GUncertain significance
Select item 2585321	NM_000091.5(COL4A3):c.4547G>A (p.Arg1516Gln)	COL4A3, MFF-DT (R1516Q)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GUncertain significance
Select item 2503863	NM_000092.5(COL4A4):c.4315G>A (p.Gly1439Ser)	COL4A4 (G1439S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2499540	NM_000092.5(COL4A4):c.1181G>T (p.Gly394Val)	COL4A4 (G394V)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 2203271	NM_000092.5(COL4A4):c.4763G>A (p.Cys1588Tyr)	COL4A4 (C1588Y)	Single nucleotide variant (missense variant)	Alport syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2161074	NM_000091.5(COL4A3):c.1307G>C (p.Gly436Ala)	COL4A3, MFF-DT (G436A)	Single nucleotide variant (missense variant)	Alport syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2160723	NM_000091.5(COL4A3):c.1103G>A (p.Arg368His)	COL4A3, MFF-DT (R368H)	Single nucleotide variant (missense variant)	Alport syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2144207	NM_000091.5(COL4A3):c.2263C>T (p.Pro755Ser)	COL4A3, MFF-DT (P755S)	Single nucleotide variant (missense variant)	Alport syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2113497	NM_000091.5(COL4A3):c.4226_4227delinsAA (p.Gly1409Glu)	COL4A3, MFF-DT (G1409E)	Indel (missense variant)	Alport syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2006331	NM_000091.5(COL4A3):c.4253-1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	Alport syndrome +1 more	GLikely pathogenic
Select item 1963410	NM_000092.5(COL4A4):c.1716del (p.Pro573fs)	COL4A4 (P573fs)	Deletion (frameshift variant)	Alport syndrome +1 more	GPathogenic
Select item 1805492	NM_033380.3(COL4A5):c.3773G>T (p.Gly1258Val)	COL4A5 (G1258V)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 1803258	NM_000091.5(COL4A3):c.1025G>A (p.Gly342Asp)	COL4A3, MFF-DT (G342D)	Single nucleotide variant (missense variant)	Alport syndrome	GUncertain significance
Select item 1465711	NM_000091.5(COL4A3):c.2224-2A>G	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1458425	NM_000091.5(COL4A3):c.1750G>T (p.Gly584Cys)	COL4A3, MFF-DT (G584C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1441244	NM_000091.5(COL4A3):c.1132G>A (p.Gly378Arg)	COL4A3, MFF-DT (G378R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1422939	NM_000092.5(COL4A4):c.3532G>A (p.Gly1178Ser)	COL4A4 (G1178S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1350377	NM_000092.5(COL4A4):c.4787G>A (p.Trp1596Ter)	COL4A4 (W1596*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1346743	NM_000091.5(COL4A3):c.1174G>A (p.Gly392Arg)	COL4A3, MFF-DT (G392R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1345257	NM_000092.5(COL4A4):c.2182G>A (p.Gly728Arg)	COL4A4 (G728R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1342006	NM_000092.5(COL4A4):c.4720C>T (p.Gln1574Ter)	COL4A4 (Q1574*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1339904	NM_000092.5(COL4A4):c.3398-5C>G	COL4A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1328475	NM_000092.5(COL4A4):c.1240G>T (p.Gly414Cys)	COL4A4 (G414C)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 1328473	NM_033380.3(COL4A5):c.3703G>T (p.Gly1235Cys)	COL4A5 (G1235C)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 1328471	NM_033380.3(COL4A5):c.936+2T>C	COL4A5	Single nucleotide variant (splice donor variant)	Alport syndrome	GPathogenic
Select item 1328468	NM_033380.3(COL4A5):c.3553G>C (p.Gly1185Arg)	COL4A5 (G1185R)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 1304000	NM_000091.5(COL4A3):c.11G>A (p.Arg4Gln)	COL4A3, LOC129935730 (R4Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1298377	NM_000091.5(COL4A3):c.2135G>T (p.Gly712Val)	COL4A3, MFF-DT (G712V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +1 more	GLikely pathogenic
Select item 1254272	NM_000091.5(COL4A3):c.1923A>C (p.Glu641Asp)	COL4A3, MFF-DT (E641D)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1238027	NM_000092.5(COL4A4):c.2545+140T>C	COL4A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232492	NM_000092.5(COL4A4):c.2545+178T>C	COL4A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210223	NM_000091.5(COL4A3):c.3026del (p.Gly1009fs)	COL4A3, MFF-DT (G1009fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 1208567	NM_000092.5(COL4A4):c.3112A>G (p.Arg1038Gly)	COL4A4 (R1038G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205473	NM_000091.5(COL4A3):c.3200C>T (p.Pro1067Leu)	COL4A3, MFF-DT (P1067L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1204505	NM_000092.5(COL4A4):c.805A>G (p.Lys269Glu)	COL4A4 (K269E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1202185	NM_000092.5(COL4A4):c.2294G>T (p.Gly765Val)	COL4A4 (G765V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1191523	NM_000092.5(COL4A4):c.3355A>G (p.Arg1119Gly)	COL4A4 (R1119G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1189478	NM_000092.5(COL4A4):c.4091-305C>T	COL4A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1164783	NM_000092.5(COL4A4):c.3974-12dup	COL4A4	Duplication (intron variant)	not provided	GBenign/Likely benign

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