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Links from MedGen

Items: 1 to 100 of 1072

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A5
Single nucleotide variant
(intron variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(S962*)
Single nucleotide variant
(nonsense)
X-linked Alport syndrome
GPathogenic
COL4A5
(Q471fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(G35R)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(K557fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GPathogenic
COL4A5
Deletion
X-linked Alport syndrome
GUncertain significance
COL4A5
(E1622fs +1 more)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(S1616F +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(M1607L +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(G1596fs +1 more)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(I1574M +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(C1567R +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(M1516fs +1 more)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(F1519fs +1 more)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(R1518H +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
COL4A5
(G1510R +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G1500D +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(Q1493H +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(Q1469H +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(G1451C +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
Deletion
(inframe_deletion)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G1442S +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(G1433S +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G1436R +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(R1422L +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(P1414S +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
Single nucleotide variant
(splice acceptor variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(P1401L +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(G1391V +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
Deletion
X-linked Alport syndrome
GUncertain significance
COL4A5
(G1391R +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G1360E +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G1354R +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G1345V +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G1327A +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(M1325fs +1 more)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(N1310fs +1 more)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(Q1308H +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(L1295V +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(P1263Q)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(P1256L)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(E1224K)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
Single nucleotide variant
(splice donor variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(K1168fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G1164S)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GPathogenic
COL4A5
Single nucleotide variant
(splice donor variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(P1139S)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(I1135fs)
Indel
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G1134C)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(P1121fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(P1091S)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
Single nucleotide variant
(intron variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
Single nucleotide variant
(synonymous variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(I1073T)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(G1066A)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(S1055Y)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(G1027fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G1024R)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G1021R)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(P1022fs)
Duplication
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(I1020T)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(P1014L)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(K1008E)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(K963E)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(G944E)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
Duplication
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G884R)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(S879fs)
Duplication
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G878A)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(P871A)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(G869A)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(P865A)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
Indel
(splice donor variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G837S)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(G825E)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(G819D)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(G811R)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
Duplication
(splice acceptor variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G784D)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G775S)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(G757R)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G752V)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
Single nucleotide variant
(synonymous variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G746R)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(G740R)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(R732K)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(A726T)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(P723T)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(G707R)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(P649L)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(I648V)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(V631G)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(G618R)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G612S)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G609S)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(G594D)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(G594S)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(G576S)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G573R)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GPathogenic
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