ClinVar for MedGen (Select 1648334) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068332	NM_000092.5(COL4A4):c.4727T>C (p.Val1576Ala)	COL4A4 (V1576A)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 3068320	NM_000092.5(COL4A4):c.213_239del (p.Pro72_Gly80del)	COL4A4	Deletion (inframe_deletion)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3066378	NM_000092.5(COL4A4):c.4395dup (p.Phe1466fs)	COL4A4 (F1466fs)	Duplication (frameshift variant)	Autosomal recessive Alport syndrome	GPathogenic
Select item 3066371	NM_000092.5(COL4A4):c.930+1G>T	COL4A4	Single nucleotide variant (splice donor variant)	Autosomal recessive Alport syndrome	GPathogenic
Select item 3066363	NM_000092.5(COL4A4):c.193-2del	COL4A4	Deletion (splice acceptor variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3066334	NM_000092.5(COL4A4):c.2159C>A (p.Pro720Gln)	COL4A4 (P720Q)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 3066203	NM_000092.5(COL4A4):c.2074G>A (p.Gly692Ser)	COL4A4 (G692S)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3066160	NM_000092.5(COL4A4):c.4279G>A (p.Gly1427Arg)	COL4A4 (G1427R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3065771	NM_000092.5(COL4A4):c.3585_3588dup (p.Val1197Ter)	COL4A4 (V1197*)	Duplication (nonsense)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3064968	NM_000092.5(COL4A4):c.4650del (p.Pro1550_Met1551insTer)	COL4A4	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 3064922	NM_000092.5(COL4A4):c.915_930+1del	COL4A4	Deletion (splice donor variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 3063841	NM_000092.5(COL4A4):c.567_568del (p.Asp191fs)	COL4A4 (D191fs)	Microsatellite (frameshift variant)	Autosomal recessive Alport syndrome	GPathogenic
Select item 3061911	NM_000092.5(COL4A4):c.2634_2660del (p.Ala880_Gly888del)	COL4A4	Deletion (inframe_deletion)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3061905	NM_000092.5(COL4A4):c.3263G>T (p.Gly1088Val)	COL4A4 (G1088V)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3061881	NM_000092.5(COL4A4):c.4921T>C (p.Cys1641Arg)	COL4A4 (C1641R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 2692346	NM_000091.5(COL4A3):c.656G>A (p.Gly219Asp)	COL4A3, MFF-DT (G219D)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +1 more	GLikely pathogenic
Select item 2691524	NM_000091.5(COL4A3):c.2764G>C (p.Gly922Arg)	COL4A3, MFF-DT (G922R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 2683952	NM_000092.5(COL4A4):c.755G>C (p.Gly252Ala)	COL4A4 (G252A)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 2674612	NM_000092.5(COL4A4):c.940G>T (p.Gly314Cys)	COL4A4 (G314C)	Single nucleotide variant (missense variant)	Benign familial hematuria +1 more	GLikely pathogenic
Select item 2664805	NM_000091.5(COL4A3):c.1788_1823del (p.Pro598_Pro609del)	COL4A3, MFF-DT	Deletion (inframe_deletion)	Autosomal dominant Alport syndrome +1 more	GUncertain significance
Select item 2632519	NM_000092.5(COL4A4):c.2192G>A (p.Gly731Asp)	COL4A4 (G731D)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GLikely pathogenic
Select item 2585322	NM_000092.5(COL4A4):c.2880dup (p.Asp961fs)	COL4A4 (D961fs)	Duplication (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 2585321	NM_000091.5(COL4A3):c.4547G>A (p.Arg1516Gln)	COL4A3, MFF-DT (R1516Q)	Single nucleotide variant (missense variant)	Benign familial hematuria +1 more	GUncertain significance
Select item 2582748	NM_000092.5(COL4A4):c.4523-1G>A	COL4A4	Single nucleotide variant (splice acceptor variant)	Autosomal recessive Alport syndrome	GPathogenic
Select item 2577108	NM_000091.5(COL4A3):c.1150G>A (p.Gly384Arg)	COL4A3, MFF-DT (G384R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 2572470	NM_000091.5(COL4A3):c.3427G>A (p.Gly1143Arg)	COL4A3, MFF-DT (G1143R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 2572431	NM_000091.5(COL4A3):c.2057G>A (p.Gly686Asp)	COL4A3, MFF-DT (G686D)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 2506491	NM_000091.5(COL4A3):c.1097G>A (p.Gly366Glu)	COL4A3, MFF-DT (G366E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GPathogenic
Select item 2506490	NM_000091.5(COL4A3):c.2480G>A (p.Gly827Glu)	COL4A3, MFF-DT (G827E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 2506101	NM_000092.5(COL4A4):c.139del (p.Cys47fs)	COL4A4 (C47fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GPathogenic
Select item 2503856	NM_000092.5(COL4A4):c.2851G>A (p.Gly951Arg)	COL4A4 (G951R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 2445682	NM_000091.5(COL4A3):c.3212G>C (p.Gly1071Ala)	COL4A3, MFF-DT (G1071A)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 2444358	NM_000092.5(COL4A4):c.1666A>G (p.Lys556Glu)	COL4A4 (K556E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 2444275	NM_000091.5(COL4A3):c.4812C>A (p.Cys1604Ter)	COL4A3, MFF-DT (C1604*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GPathogenic
Select item 2444225	NM_000092.5(COL4A4):c.1459+1G>A	COL4A4	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2443033	NM_000091.5(COL4A3):c.814C>T (p.Pro272Ser)	COL4A3, MFF-DT (P272S)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GUncertain significance
Select item 2442108	NM_000092.5(COL4A4):c.2155G>C (p.Gly719Arg)	COL4A4 (G719R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 2431548	NM_000092.5(COL4A4):c.4079C>T (p.Pro1360Leu)	COL4A4 (P1360L)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 2429119	NM_000091.5(COL4A3):c.610-1G>A	COL4A3, MFF-DT	Single nucleotide variant (splice acceptor variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 2392652	NM_000092.5(COL4A4):c.2788G>A (p.Gly930Ser)	COL4A4 (G930S)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1809685	NM_000092.5(COL4A4):c.2164+15_2164+16insTTTG	COL4A4	Insertion (intron variant)	not provided +2 more	GLikely benign
Select item 1804098	NM_000092.5(COL4A4):c.3699_3706+1del	COL4A4	Deletion (splice donor variant)	Autosomal recessive Alport syndrome	GPathogenic
Select item 1804096	NM_000091.5(COL4A3):c.2864G>T (p.Gly955Val)	COL4A3, MFF-DT (G955V)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1804094	NM_000091.5(COL4A3):c.2558G>C (p.Gly853Ala)	COL4A3, MFF-DT (G853A)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1803707	NM_000092.5(COL4A4):c.895G>A (p.Gly299Arg)	COL4A4 (G299R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1726954	NM_000092.5(COL4A4):c.4271_4272del (p.Gly1424fs)	COL4A4 (G1424fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726930	NM_000092.5(COL4A4):c.1400del (p.Pro467fs)	COL4A4 (P467fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726915	NM_000092.5(COL4A4):c.1748del (p.Pro583fs)	COL4A4 (P583fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726863	NM_000092.5(COL4A4):c.2197G>T (p.Gly733Ter)	COL4A4 (G733*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726851	NM_000092.5(COL4A4):c.75_76del (p.Leu26fs)	COL4A4 (L26fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726838	NM_000091.5(COL4A3):c.4634_4635del (p.Ile1545fs)	COL4A3, MFF-DT (I1545fs)	Microsatellite (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726805	NM_000092.5(COL4A4):c.3281del (p.Gly1094fs)	COL4A4 (G1094fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726775	NM_000092.5(COL4A4):c.487dup (p.Leu163fs)	COL4A4 (L163fs)	Duplication (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726773	NM_000092.5(COL4A4):c.3039_3040del (p.His1013fs)	COL4A4 (H1013fs)	Microsatellite (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726754	NM_000091.5(COL4A3):c.4004del (p.Pro1335fs)	COL4A3, MFF-DT (P1335fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726716	NM_000091.5(COL4A3):c.1361del (p.Pro454fs)	COL4A3, MFF-DT (P454fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726647	NM_000092.5(COL4A4):c.171T>A (p.Cys57Ter)	COL4A4 (C57*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726595	NM_000092.5(COL4A4):c.640G>T (p.Gly214Ter)	COL4A4 (G214*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726562	NM_000091.5(COL4A3):c.2950A>T (p.Lys984Ter)	COL4A3, MFF-DT (K984*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726534	NM_000092.5(COL4A4):c.2297_2298del (p.His766fs)	COL4A4 (H766fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726429	NM_000092.5(COL4A4):c.4208C>G (p.Ser1403Ter)	COL4A4 (S1403*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726370	NM_000091.5(COL4A3):c.1879del (p.Gln627fs)	COL4A3, MFF-DT (Q627fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726368	NM_000091.5(COL4A3):c.737_738insATGTGTATAAGAGACA (p.Val246_Thr247insCysValTer)	COL4A3, MFF-DT	Insertion (nonsense +1 more)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726361	NM_000091.5(COL4A3):c.1507A>T (p.Arg503Ter)	COL4A3, MFF-DT (R503*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726339	NM_000091.5(COL4A3):c.4298del (p.Gly1433fs)	COL4A3, MFF-DT (G1433fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726318	NM_000091.5(COL4A3):c.304dup (p.Ser102fs)	COL4A3, MFF-DT (S102fs)	Duplication (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726241	NM_000092.5(COL4A4):c.727G>T (p.Gly243Ter)	COL4A4 (G243*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726188	NM_000091.5(COL4A3):c.4625_4626del (p.Glu1542fs)	COL4A3, MFF-DT (E1542fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726151	NM_000091.5(COL4A3):c.3327_3330del (p.Gly1110fs)	COL4A3, MFF-DT (G1110fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726146	NM_000092.5(COL4A4):c.1850dup (p.Leu618fs)	COL4A4 (L618fs)	Duplication (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726135	NM_000092.5(COL4A4):c.3005dup (p.Glu1003fs)	COL4A4 (E1003fs)	Duplication (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726113	NM_000092.5(COL4A4):c.1809_1813del (p.Asp603fs)	COL4A4 (D603fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726108	NM_000091.5(COL4A3):c.803dup (p.Glu269fs)	COL4A3, MFF-DT (E269fs)	Duplication (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726082	NM_000092.5(COL4A4):c.3194_3195del (p.Asp1065fs)	COL4A4 (D1065fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726073	NM_000092.5(COL4A4):c.3466dup (p.Gln1156fs)	COL4A4 (Q1156fs)	Duplication (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726028	NM_000091.5(COL4A3):c.3647del (p.Gly1216fs)	COL4A3, MFF-DT (G1216fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1726011	NM_000092.5(COL4A4):c.2672_2673insCATCATC (p.Pro892fs)	COL4A4 (P892fs)	Insertion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1725983	NM_000092.5(COL4A4):c.2211delinsTGCTAATTC (p.Ser738fs)	COL4A4 (S738fs)	Indel (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1725980	NM_000091.5(COL4A3):c.94_95del (p.Val32fs)	COL4A3, MFF-DT (V32fs)	Microsatellite (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1725970	NM_000091.5(COL4A3):c.4307del (p.Gly1436fs)	COL4A3, MFF-DT (G1436fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1725962	NM_000092.5(COL4A4):c.3244_3245delinsT (p.Gly1082fs)	COL4A4 (G1082fs)	Indel (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1725958	NM_000092.5(COL4A4):c.1543G>T (p.Gly515Ter)	COL4A4 (G515*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1725880	NM_000092.5(COL4A4):c.1268del (p.Gly423fs)	COL4A4 (G423fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1725844	NM_000092.5(COL4A4):c.2672_2680delinsT (p.Gly891fs)	COL4A4 (G891fs)	Indel (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1725802	NM_000091.5(COL4A3):c.4240A>T (p.Lys1414Ter)	COL4A3, MFF-DT (K1414*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1725776	NM_000092.5(COL4A4):c.1153G>T (p.Gly385Ter)	COL4A4 (G385*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1725775	NM_000092.5(COL4A4):c.3719del (p.Pro1240fs)	COL4A4 (P1240fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1725754	NM_000092.5(COL4A4):c.186dup (p.Ser63fs)	COL4A4 (S63fs)	Duplication (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1725720	NM_000092.5(COL4A4):c.3130_3132delinsT (p.Pro1044fs)	COL4A4 (P1044fs)	Indel (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1725701	NM_000092.5(COL4A4):c.3626_3627del (p.Lys1209fs)	COL4A4 (K1209fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1725647	NM_000092.5(COL4A4):c.913G>T (p.Gly305Ter)	COL4A4 (G305*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1725602	NM_000092.5(COL4A4):c.3594del (p.Pro1199fs)	COL4A4 (P1199fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1725573	NM_000091.5(COL4A3):c.4559C>A (p.Ser1520Ter)	COL4A3, MFF-DT (S1520*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1725554	NM_000092.5(COL4A4):c.2207del (p.Lys736fs)	COL4A4 (K736fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1725553	NM_000092.5(COL4A4):c.3424G>T (p.Gly1142Ter)	COL4A4 (G1142*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1725541	NM_000091.5(COL4A3):c.2170G>T (p.Gly724Ter)	COL4A3, MFF-DT (G724*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1725540	NM_000092.5(COL4A4):c.3297del (p.Phe1099fs)	COL4A4 (F1099fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1725533	NM_000091.5(COL4A3):c.3968_3970delinsTT (p.Asn1323fs)	COL4A3, MFF-DT (N1323fs)	Indel (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1725522	NM_000091.5(COL4A3):c.1662_1663del (p.Asp555fs)	COL4A3, MFF-DT (D555fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1725465	NM_000092.5(COL4A4):c.3177del (p.Gly1060fs)	COL4A4 (G1060fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic

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