ClinVar for MedGen (Select 1648334) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342291	NM_000092.5(COL4A4):c.1565G>A (p.Trp522Ter)	COL4A4 (W522*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GPathogenic
Select item 3342271	NM_000092.5(COL4A4):c.3515G>T (p.Gly1172Val)	COL4A4 (G1172V)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3342268	NM_000092.5(COL4A4):c.4630G>C (p.Ala1544Pro)	COL4A4 (A1544P)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 3338415	NM_000092.5(COL4A4):c.4293dup (p.Lys1432Ter)	COL4A4 (K1432*)	Duplication (nonsense)	Autosomal recessive Alport syndrome	GPathogenic
Select item 3338414	NM_000092.5(COL4A4):c.2663G>A (p.Gly888Glu)	COL4A4 (G888E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3256901	NM_000092.5(COL4A4):c.1029+7A>G	COL4A4	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 3256900	NM_000092.5(COL4A4):c.4082-1G>C	COL4A4	Single nucleotide variant (splice acceptor variant)	Autosomal recessive Alport syndrome	GPathogenic
Select item 3256898	NM_000092.5(COL4A4):c.2169del (p.Arg724fs)	COL4A4 (R724fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GPathogenic
Select item 3256897	NM_000092.5(COL4A4):c.509G>A (p.Gly170Glu)	COL4A4 (G170E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3256878	NM_000092.5(COL4A4):c.1352G>T (p.Gly451Val)	COL4A4 (G451V)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3256873	NM_000092.5(COL4A4):c.1724G>C (p.Gly575Ala)	COL4A4 (G575A)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3256719	NM_000092.5(COL4A4):c.4217-8_4217-7del	COL4A4	Deletion (intron variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 3256702	NM_000092.5(COL4A4):c.3080G>T (p.Gly1027Val)	COL4A4 (G1027V)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3256701	NM_000092.5(COL4A4):c.1981C>T (p.Gln661Ter)	COL4A4 (Q661*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3256697	NM_000092.5(COL4A4):c.1544G>A (p.Gly515Glu)	COL4A4 (G515E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3256681	NM_000092.5(COL4A4):c.724dup (p.Met242fs)	COL4A4 (M242fs)	Duplication (frameshift variant)	Autosomal recessive Alport syndrome	GPathogenic
Select item 3256671	NM_000092.5(COL4A4):c.2375G>A (p.Gly792Glu)	COL4A4 (G792E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3256633	NM_000092.5(COL4A4):c.3289+3A>G	COL4A4	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 3256623	NM_000092.5(COL4A4):c.193G>C (p.Gly65Arg)	COL4A4 (G65R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3251375	NM_000092.5(COL4A4):c.327+1_327+5del	COL4A4	Deletion (splice donor variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3237350	NM_000092.5(COL4A4):c.3290-270_3505+364del	COL4A4	Deletion (splice acceptor variant +1 more)	Autosomal recessive Alport syndrome	GPathogenic
Select item 3237186	NM_000092.5(COL4A4):c.1987G>A (p.Gly663Ser)	COL4A4 (G663S)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GPathogenic
Select item 3236794	NM_000092.5(COL4A4):c.3768C>G (p.Asp1256Glu)	COL4A4 (D1256E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 3236754	NM_000092.5(COL4A4):c.4192G>A (p.Gly1398Arg)	COL4A4 (G1398R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3236349	NM_000092.5(COL4A4):c.3471_3472dup (p.Asp1158fs)	COL4A4 (D1158fs)	Duplication (frameshift variant)	Autosomal recessive Alport syndrome	GPathogenic
Select item 3236257	NM_000092.5(COL4A4):c.2056+3A>G	COL4A4	Single nucleotide variant (intron variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 3236248	NM_000092.5(COL4A4):c.2698G>T (p.Gly900Cys)	COL4A4 (G900C)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3236210	NM_000092.5(COL4A4):c.3262G>A (p.Gly1088Ser)	COL4A4 (G1088S)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3236206	NM_000092.5(COL4A4):c.2608G>A (p.Gly870Ser)	COL4A4 (G870S)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3236151	NM_000092.5(COL4A4):c.1240G>C (p.Gly414Arg)	COL4A4 (G414R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3236133	NM_000092.5(COL4A4):c.1517G>A (p.Gly506Glu)	COL4A4 (G506E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3236080	NM_000092.5(COL4A4):c.3836G>T (p.Gly1279Val)	COL4A4 (G1279V)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3236044	NM_000092.5(COL4A4):c.676G>A (p.Gly226Arg)	COL4A4 (G226R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3236042	NM_000092.5(COL4A4):c.3560G>C (p.Gly1187Ala)	COL4A4 (G1187A)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3235870	NM_000092.5(COL4A4):c.1505del (p.Pro502fs)	COL4A4 (P502fs)	Deletion (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3235213	NM_000092.5(COL4A4):c.1615G>A (p.Gly539Arg)	COL4A4 (G539R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3235195	NM_000092.5(COL4A4):c.1759G>T (p.Gly587Cys)	COL4A4 (G587C)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 3234095	NM_000092.5(COL4A4):c.145G>T (p.Gly49Ter)	COL4A4 (G49*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GPathogenic
Select item 3234042	NM_000092.5(COL4A4):c.4625G>A (p.Trp1542Ter)	COL4A4 (W1542*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome	GPathogenic
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 2681770	NM_000092.5(COL4A4):c.3636_3637del (p.Gly1213fs)	COL4A4 (G1213fs)	Microsatellite (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 2681769	NM_000092.5(COL4A4):c.1724G>A (p.Gly575Glu)	COL4A4 (G575E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
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)	COL4A4-related disorder +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)	Autosomal recessive Alport syndrome +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 2578899	NM_000092.5(COL4A4):c.2969G>A (p.Gly990Asp)	COL4A4 (G990D)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GConflicting classifications of pathogenicity
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)	Inborn genetic diseases +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

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