ClinVar for MedGen (Select 1648433) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068625	NM_033380.3(COL4A5):c.359G>A (p.Gly120Asp)	COL4A5 (G120D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3068585	NM_033380.3(COL4A5):c.2678-1G>T	COL4A5	Single nucleotide variant (splice acceptor variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3068581	NM_033380.3(COL4A5):c.4581C>G (p.Cys1527Trp)	COL4A5 (C1521W +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3068399	NM_033380.3(COL4A5):c.2446C>T (p.Pro816Ser)	COL4A5 (P816S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 3068397	NM_033380.3(COL4A5):c.802_817del (p.Pro268fs)	COL4A5 (P268fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3066356	NM_033380.3(COL4A5):c.3553+2T>C	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GPathogenic
Select item 3066345	NM_033380.3(COL4A5):c.3498del (p.Gly1167fs)	COL4A5 (G1167fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3066343	NM_033380.3(COL4A5):c.600del (p.Gly201fs)	COL4A5 (G201fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3066320	NM_033380.3(COL4A5):c.4061_4062delinsAT (p.Gly1354Asp)	COL4A5 (G1348D +1 more)	Indel (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3066289	NM_033380.3(COL4A5):c.4217-14T>G	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GUncertain significance
Select item 3066242	NM_033380.3(COL4A5):c.1033-10G>A	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3066217	NM_033380.3(COL4A5):c.3329G>T (p.Gly1110Val)	COL4A5 (G1110V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3066211	NM_033380.3(COL4A5):c.2723G>C (p.Gly908Ala)	COL4A5 (G908A)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3066185	NM_033380.3(COL4A5):c.4528+5G>A	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GUncertain significance
Select item 3066178	NM_033380.3(COL4A5):c.2998G>T (p.Gly1000Ter)	COL4A5 (G1000*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GPathogenic
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 3061894	NM_033380.3(COL4A5):c.4321C>T (p.Arg1441Cys)	COL4A5 (R1435C +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 2921075	NM_033380.3(COL4A5):c.4892_4895del (p.Arg1631fs)	COL4A5 (R1625fs +1 more)	Deletion (frameshift variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2921028	NM_033380.3(COL4A5):c.3553+10_3553+11delinsA	COL4A5	Indel (intron variant)	X-linked Alport syndrome	GLikely benign
Select item 2920876	NM_033380.3(COL4A5):c.2902dup (p.Glu968fs)	COL4A5 (E968fs)	Duplication (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 2808353	NM_033380.3(COL4A5):c.4994+1G>A	COL4A5	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 2692323	NM_033380.3(COL4A5):c.3098G>T (p.Gly1033Val)	COL4A5 (G1033V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
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 2683947	NM_033380.3(COL4A5):c.3073_3081del (p.Leu1025_Gly1027del)	COL4A5	Deletion (inframe_deletion)	X-linked Alport syndrome	GLikely pathogenic
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 2683905	NM_033380.3(COL4A5):c.3828_3871del (p.Pro1277fs)	COL4A5 (P1271fs +1 more)	Deletion (frameshift variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2682387	NM_033380.3(COL4A5):c.827G>T (p.Gly276Val)	COL4A5 (G276V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2671633	NM_033380.3(COL4A5):c.2396-1G>A	COL4A5	Single nucleotide variant (splice acceptor variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2664804	NM_033380.3(COL4A5):c.834+1G>T	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2664748	NM_033380.3(COL4A5):c.3016+1G>A	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GPathogenic
Select item 2664740	NM_033380.3(COL4A5):c.2917+2T>A	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GPathogenic
Select item 2664328	NM_033380.3(COL4A5):c.1443C>A (p.Cys481Ter)	COL4A5 (C481*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GLikely pathogenic
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 2627802	NM_033380.3(COL4A5):c.547-1G>A	COL4A5	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2627801	NM_033380.3(COL4A5):c.1499G>T (p.Gly500Val)	COL4A5 (G500V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2627800	NM_033380.3(COL4A5):c.2096G>A (p.Gly699Glu)	COL4A5 (G699E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2627794	NM_033380.3(COL4A5):c.2543C>T (p.Pro848Leu)	COL4A5 (P848L)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 2627505	NM_033380.3(COL4A5):c.2678G>A (p.Gly893Asp)	COL4A5 (G893D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2627146	NM_033380.3(COL4A5):c.3365G>A (p.Gly1122Glu)	COL4A5 (G1122E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GLikely pathogenic
Select item 2626949	NM_033380.3(COL4A5):c.60G>A (p.Trp20Ter)	COL4A5 (W20*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GLikely pathogenic
Select item 2585333	NM_033380.3(COL4A5):c.107C>A (p.Ser36Ter)	COL4A5 (S36*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GPathogenic
Select item 2585041	NM_033380.3(COL4A5):c.2980G>A (p.Gly994Arg)	COL4A5 (G994R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2584402	NM_033380.3(COL4A5):c.3791-41A>G	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GPathogenic
Select item 2584372	NM_033380.3(COL4A5):c.546+1G>A	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GPathogenic
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 2577448	NM_033380.3(COL4A5):c.3097G>T (p.Gly1033Cys)	COL4A5 (G1033C)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 2577423	NM_033380.3(COL4A5):c.1718G>T (p.Gly573Val)	COL4A5 (G573V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 2572496	NM_033380.3(COL4A5):c.938del	COL4A5	Deletion (splice acceptor variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2572457	NM_033380.3(COL4A5):c.770_776del (p.Lys257fs)	COL4A5 (K257fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2572406	NM_033380.3(COL4A5):c.439G>C (p.Gly147Arg)	COL4A5 (G147R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2506495	NM_033380.3(COL4A5):c.3115G>A (p.Gly1039Ser)	COL4A5 (G1039S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2506494	NM_033380.3(COL4A5):c.4446C>A (p.Cys1482Ter)	COL4A5 (C1476* +1 more)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GLikely pathogenic
Select item 2506474	NM_033380.3(COL4A5):c.82-1G>A	COL4A5	Single nucleotide variant (splice acceptor variant)	X-linked Alport syndrome	GPathogenic
Select item 2501697	NM_033380.3(COL4A5):c.3399del (p.Gly1134fs)	COL4A5 (G1134fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2500258	NM_033380.3(COL4A5):c.645+3_645+36del	COL4A5	Deletion (splice donor variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2445904	NM_033380.3(COL4A5):c.4097_4098inv (p.Gly1366Val)	COL4A5 (G1360V +1 more)	Inversion (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2444414	NM_033380.3(COL4A5):c.4417C>T (p.His1473Tyr)	COL4A5 (H1467Y +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 2444297	NM_033380.3(COL4A5):c.1634G>A (p.Gly545Asp)	COL4A5 (G545D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2444221	NM_033380.3(COL4A5):c.3499_3504del (p.Gly1167_Lys1168del)	COL4A5	Deletion (inframe_deletion)	X-linked Alport syndrome	GUncertain significance
Select item 2444150	NM_033380.3(COL4A5):c.2422G>A (p.Gly808Arg)	COL4A5 (G808R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2444109	NM_033380.3(COL4A5):c.1340-2A>G	COL4A5	Single nucleotide variant (splice acceptor variant)	X-linked Alport syndrome	GPathogenic
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 2440322	NM_033380.3(COL4A5):c.4747C>G (p.His1583Asp)	COL4A5 (H1577D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 2431735	NM_033380.3(COL4A5):c.4087+1G>C	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2431705	NM_033380.3(COL4A5):c.3032del (p.Pro1011fs)	COL4A5 (P1011fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 2138685	NM_033380.3(COL4A5):c.638G>A (p.Gly213Glu)	COL4A5 (G213E)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2122283	NM_033380.3(COL4A5):c.160G>C (p.Gly54Arg)	COL4A5 (G54R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2102565	NM_033380.3(COL4A5):c.3554G>A (p.Gly1185Asp)	COL4A5 (G1185D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2027621	NM_033380.3(COL4A5):c.3393_3419del (p.Pro1132_Gly1140del)	COL4A5	Deletion (inframe_deletion)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2014736	NM_033380.3(COL4A5):c.4088-2A>G	COL4A5	Single nucleotide variant (splice acceptor variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely 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 1878406	NC_000023.10:g.(107683437_107782975)_(107834875_107838738)del	COL4A5	Deletion	X-linked Alport syndrome	GLikely pathogenic
Select item 1878364	NM_033380.3(COL4A5):c.3017-2A>G	COL4A5	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1810201	NM_033380.3(COL4A5):c.231+1G>T	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1806169	NM_033380.3(COL4A5):c.4180G>C (p.Gly1394Arg)	COL4A5 (G1388R +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1806082	NM_033380.3(COL4A5):c.1625G>T (p.Gly542Val)	COL4A5 (G542V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1805498	NM_033380.3(COL4A5):c.3650G>A (p.Gly1217Asp)	COL4A5 (G1217D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 1805490	NM_033380.3(COL4A5):c.2104G>C (p.Gly702Arg)	COL4A5 (G702R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1804107	NM_033380.3(COL4A5):c.1481del (p.Gly494fs)	COL4A5 (G494fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 1804106	NM_033380.3(COL4A5):c.956G>T (p.Gly319Val)	COL4A5 (G319V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1804105	NM_033380.3(COL4A5):c.919G>C (p.Gly307Arg)	COL4A5 (G307R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1804104	NM_033380.3(COL4A5):c.817G>A (p.Gly273Arg)	COL4A5 (G273R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1804103	NM_033380.3(COL4A5):c.609+1G>A	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GPathogenic
Select item 1804102	NM_033380.3(COL4A5):c.538G>A (p.Gly180Arg)	COL4A5 (G180R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1803954	NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys)	COL4A5 (Y1597C +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GLikely pathogenic
Select item 1803953	NM_033380.3(COL4A5):c.3499G>A (p.Gly1167Ser)	COL4A5 (G1167S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1803952	NM_033380.3(COL4A5):c.3008G>T (p.Gly1003Val)	COL4A5 (G1003V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1726986	NM_033380.3(COL4A5):c.4313del (p.Pro1438fs)	COL4A5 (P1432fs +1 more)	Deletion (frameshift variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1726872	NM_033380.3(COL4A5):c.1395del (p.Gly466fs)	COL4A5 (G466fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1726746	NM_033380.3(COL4A5):c.4609_4610del (p.Ser1537fs)	COL4A5 (S1531fs +1 more)	Deletion (frameshift variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1726654	NM_033380.3(COL4A5):c.295_296del (p.Gly99fs)	COL4A5 (G99fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1726604	NM_033380.3(COL4A5):c.1482_1483del (p.Gln495fs)	COL4A5 (Q495fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1726362	NM_033380.3(COL4A5):c.3784A>T (p.Arg1262Ter)	COL4A5 (R1262*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GLikely pathogenic
Select item 1726240	NM_033380.3(COL4A5):c.469G>T (p.Glu157Ter)	COL4A5 (E157*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GLikely pathogenic

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