ClinVar for MedGen (Select 339209) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2664853	NM_000092.5(COL4A4):c.930+5G>A	COL4A4	Single nucleotide variant (intron variant)	Alport syndrome	GUncertain significance
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 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 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 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 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)	MFF-DT, COL4A3 (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)	Autosomal recessive Alport syndrome +2 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)	Autosomal dominant Alport syndrome +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
Select item 1129556	NM_000091.5(COL4A3):c.2184G>A (p.Glu728=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1119754	NM_000092.5(COL4A4):c.4809+7dup	COL4A4	Duplication (intron variant)	not provided	GLikely benign
Select item 1090427	NM_000091.5(COL4A3):c.1887G>A (p.Thr629=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1088480	NM_000091.5(COL4A3):c.4329G>A (p.Thr1443=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1084207	NM_000091.5(COL4A3):c.567T>A (p.Gly189=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1075091	NM_000091.5(COL4A3):c.92_95dup (p.Lys34fs)	COL4A3, MFF-DT (K34fs)	Microsatellite (frameshift variant)	Autosomal dominant Alport syndrome +3 more	GPathogenic
Select item 1070961	NM_000091.5(COL4A3):c.522dup (p.Leu175fs)	COL4A3, MFF-DT (L175fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1067949	NM_000091.5(COL4A3):c.1114+2T>C	COL4A3, MFF-DT	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1067226	NM_033380.3(COL4A5):c.3898G>A (p.Gly1300Ser)	COL4A5 (G1294S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1066915	NM_000092.5(COL4A4):c.559-2A>G	COL4A4	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GLikely pathogenic
Select item 1065058	NM_016239.4(MYO15A):c.7925C>T (p.Pro2642Leu)	MYO15A (P2642L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1064968	NM_001146079.2(CLDN14):c.49G>A (p.Gly17Ser)	CLDN14, CLDN14-AS1 (G17S)	Single nucleotide variant (missense variant)	Alport syndrome	GUncertain significance
Select item 1063840	NM_000091.5(COL4A3):c.281G>C (p.Gly94Ala)	COL4A3, MFF-DT (G94A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1060436	NM_000092.5(COL4A4):c.595-7T>A	COL4A4	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 1060313	NM_000092.5(COL4A4):c.4694G>A (p.Arg1565His)	COL4A4 (R1565H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1057850	NM_000091.5(COL4A3):c.272G>A (p.Gly91Asp)	COL4A3, MFF-DT (G91D)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1057636	NM_000091.5(COL4A3):c.4663G>A (p.Ala1555Thr)	COL4A3, MFF-DT (A1555T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1055107	NM_000091.5(COL4A3):c.4781C>G (p.Thr1594Ser)	COL4A3, MFF-DT (T1594S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1044092	NM_000091.5(COL4A3):c.4664C>T (p.Ala1555Val)	COL4A3, MFF-DT (A1555V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1043426	NM_000092.5(COL4A4):c.4091G>T (p.Gly1364Val)	COL4A4 (G1364V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1043123	NM_000091.5(COL4A3):c.4255C>A (p.Pro1419Thr)	COL4A3, MFF-DT (P1419T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1040200	NM_000092.5(COL4A4):c.3434G>A (p.Gly1145Glu)	COL4A4 (G1145E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1036012	NM_000092.5(COL4A4):c.870G>A (p.Lys290=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1026027	NM_000092.5(COL4A4):c.2383+3A>G	COL4A4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1025633	NM_000092.5(COL4A4):c.2123G>T (p.Arg708Ile)	COL4A4 (R708I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1025386	NM_000091.5(COL4A3):c.685C>T (p.Arg229Trp)	COL4A3, MFF-DT (R229W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1021829	NM_000091.5(COL4A3):c.3116G>A (p.Gly1039Glu)	COL4A3, MFF-DT (G1039E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1018038	NM_000092.5(COL4A4):c.1464T>G (p.Asn488Lys)	COL4A4 (N488K)	Single nucleotide variant (missense variant)	Benign familial hematuria +2 more	GUncertain significance
Select item 1017231	NM_000091.5(COL4A3):c.4643G>A (p.Cys1548Tyr)	COL4A3, MFF-DT (C1548Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1016627	NM_000092.5(COL4A4):c.1471C>T (p.Leu491Phe)	COL4A4 (L491F)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1010699	NM_000091.5(COL4A3):c.527C>G (p.Pro176Arg)	COL4A3, MFF-DT (P176R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1005813	NM_000092.5(COL4A4):c.2057G>A (p.Gly686Asp)	COL4A4 (G686D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1004853	NM_000091.5(COL4A3):c.63G>A (p.Leu21=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1002812	NM_000092.5(COL4A4):c.871-6T>C	COL4A4	Single nucleotide variant (intron variant)	Hematuria, benign familial, 1 +1 more	GConflicting classifications of pathogenicity
Select item 1002742	NM_000092.5(COL4A4):c.2611C>T (p.Leu871Phe)	COL4A4 (L871F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1000181	NM_000092.5(COL4A4):c.734C>T (p.Pro245Leu)	COL4A4 (P245L)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +2 more	GUncertain significance
Select item 999493	NM_000092.5(COL4A4):c.192G>A (p.Arg64=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided	GPathogenic
Select item 994526	NM_000092.5(COL4A4):c.3771G>A (p.Pro1257=)	COL4A4	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 990639	NM_000091.5(COL4A3):c.4765G>A (p.Ala1589Thr)	COL4A3, MFF-DT (A1589T)	Single nucleotide variant (missense variant)	Alport syndrome	GUncertain significance
Select item 990638	NM_000091.5(COL4A3):c.4450G>A (p.Gly1484Arg)	COL4A3, MFF-DT (G1484R)	Single nucleotide variant (missense variant)	Benign familial hematuria +3 more	GUncertain significance
Select item 990637	NM_000091.5(COL4A3):c.3857G>T (p.Gly1286Val)	COL4A3, MFF-DT (G1286V)	Single nucleotide variant (missense variant)	Alport syndrome	GUncertain significance
Select item 990636	NM_000091.5(COL4A3):c.3764C>A (p.Pro1255His)	COL4A3, MFF-DT (P1255H)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 990635	NM_000091.5(COL4A3):c.3735C>G (p.Gly1245=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Alport syndrome	GUncertain significance
Select item 990634	NM_000091.5(COL4A3):c.3254T>G (p.Met1085Arg)	COL4A3, MFF-DT (M1085R)	Single nucleotide variant (missense variant)	Benign familial hematuria +3 more	GUncertain significance
Select item 990633	NM_000091.5(COL4A3):c.1727T>C (p.Val576Ala)	COL4A3, MFF-DT (V576A)	Single nucleotide variant (missense variant)	Alport syndrome	GUncertain significance
Select item 990632	NM_000091.5(COL4A3):c.1167C>G (p.Gly389=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990631	NM_000091.5(COL4A3):c.964T>C (p.Leu322=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +3 more	GLikely benign
Select item 990630	NM_000091.5(COL4A3):c.668T>C (p.Ile223Thr)	COL4A3, MFF-DT (I223T)	Single nucleotide variant (missense variant)	Alport syndrome	GUncertain significance
Select item 990629	NM_000092.5(COL4A4):c.232C>T (p.Pro78Ser)	COL4A4 (P78S)	Single nucleotide variant (missense variant)	Benign familial hematuria +2 more	GConflicting classifications of pathogenicity
Select item 989516	NM_000092.5(COL4A4):c.766C>T (p.Pro256Ser)	COL4A4 (P256S)	Single nucleotide variant (missense variant)	Alport syndrome	GUncertain significance
Select item 989515	NM_000092.5(COL4A4):c.846A>C (p.Gly282=)	COL4A4	Single nucleotide variant (synonymous variant)	Alport syndrome	GUncertain significance
Select item 989514	NM_000092.5(COL4A4):c.847C>A (p.Leu283Met)	COL4A4 (L283M)	Single nucleotide variant (missense variant)	Alport syndrome	GUncertain significance
Select item 989513	NM_000092.5(COL4A4):c.1585C>T (p.Pro529Ser)	COL4A4 (P529S)	Single nucleotide variant (missense variant)	Alport syndrome	GUncertain significance
Select item 989512	NM_000092.5(COL4A4):c.3696A>G (p.Pro1232=)	COL4A4	Single nucleotide variant (synonymous variant)	Alport syndrome	GUncertain significance
Select item 989511	NM_000092.5(COL4A4):c.4095A>G (p.Glu1365=)	COL4A4	Single nucleotide variant (synonymous variant)	Alport syndrome	GUncertain significance
Select item 989510	NM_000092.5(COL4A4):c.4829A>G (p.Gln1610Arg)	COL4A4 (Q1610R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 988257	NM_033380.3(COL4A5):c.438+1_438+3dup	COL4A5	Duplication (splice donor variant)	Alport syndrome	GLikely pathogenic
Select item 988256	NM_033380.3(COL4A5):c.3556C>T (p.Gln1186Ter)	COL4A5 (Q1186*)	Single nucleotide variant (nonsense)	Alport syndrome	GPathogenic
Select item 988255	NM_033380.3(COL4A5):c.4769C>A (p.Pro1590His)	COL4A5 (P1584H +1 more)	Single nucleotide variant (missense variant)	Alport syndrome	GPathogenic
Select item 988254	NM_033380.3(COL4A5):c.2329C>T (p.Arg777Cys)	COL4A5 (R777C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 988252	NM_000091.5(COL4A3):c.4462G>C (p.Gly1488Arg)	COL4A3, MFF-DT (G1488R)	Single nucleotide variant (missense variant)	Alport syndrome	GUncertain significance
Select item 988186	NM_033380.3(COL4A5):c.4376dup (p.Gly1460fs)	COL4A5 (G1454fs +1 more)	Duplication (frameshift variant)	Alport syndrome	GPathogenic
Select item 988184	NM_033380.3(COL4A5):c.1763_1779+3del	COL4A5	Deletion (splice donor variant)	Alport syndrome	GPathogenic
Select item 988183	NM_033380.3(COL4A5):c.434C>T (p.Pro145Leu)	COL4A5 (P145L)	Single nucleotide variant (missense variant)	Alport syndrome	GUncertain significance
Select item 988180	NM_033380.3(COL4A5):c.3374-1G>A	COL4A5	Single nucleotide variant (splice acceptor variant)	Alport syndrome	GPathogenic
Select item 988179	NM_000092.5(COL4A4):c.4198A>G (p.Arg1400Gly)	COL4A4 (R1400G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 988158	NM_033380.3(COL4A5):c.2678G>C (p.Gly893Ala)	COL4A5 (G893A)	Single nucleotide variant (missense variant)	Alport syndrome	GPathogenic
Select item 988157	NM_033380.3(COL4A5):c.3883C>T (p.Gln1295Ter)	COL4A5 (Q1289* +1 more)	Single nucleotide variant (nonsense)	Alport syndrome	GPathogenic
Select item 988156	NM_033380.3(COL4A5):c.2129G>A (p.Gly710Glu)	COL4A5 (G710E)	Single nucleotide variant (missense variant)	Alport syndrome	GLikely pathogenic
Select item 988155	NM_033380.3(COL4A5):c.1532del (p.Pro511fs)	COL4A5 (P511fs)	Deletion (frameshift variant)	Alport syndrome	GLikely pathogenic
Select item 988154	NM_033380.3(COL4A5):c.2042-2A>C	COL4A5	Single nucleotide variant (splice acceptor variant)	Alport syndrome	GLikely pathogenic

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