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Links from MedGen

Items: 1 to 100 of 707

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A5
(R1625fs +1 more)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
Indel
(intron variant)
X-linked Alport syndrome
GLikely benign
COL4A5
(E968fs)
Duplication
(frameshift variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(G1033V)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
Deletion
(splice donor variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
Deletion
(inframe_deletion)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(N1525S +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(P1271fs +1 more)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G276V)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
Single nucleotide variant
(splice acceptor variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
Single nucleotide variant
(splice donor variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
Single nucleotide variant
(splice donor variant)
X-linked Alport syndrome
GPathogenic
COL4A5
Single nucleotide variant
(splice donor variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(C481*)
Single nucleotide variant
(nonsense)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G1018V)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
COL4A5
(G500V)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
COL4A5
(G699E)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(P848L)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(G893D)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
+1 more
GConflicting classifications of pathogenicity
COL4A5
(G1122E)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
+1 more
GLikely pathogenic
COL4A5
(W20*)
Single nucleotide variant
(nonsense)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(S36*)
Single nucleotide variant
(nonsense)
X-linked Alport syndrome
GPathogenic
COL4A5
(G994R)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
Single nucleotide variant
(intron variant)
X-linked Alport syndrome
GPathogenic
COL4A5
Single nucleotide variant
(splice donor variant)
X-linked Alport syndrome
GPathogenic
COL4A5
Single nucleotide variant
(intron variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(Y1484H +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(G1033C)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(G573V)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GPathogenic
COL4A5
Deletion
(splice acceptor variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(K257fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G147R)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G1039S)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(C1476* +1 more)
Single nucleotide variant
(nonsense)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
Single nucleotide variant
(splice acceptor variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(G1134fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
Deletion
(splice donor variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G1360V +1 more)
Inversion
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(H1467Y +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(G545D)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
Deletion
(inframe_deletion)
X-linked Alport syndrome
GUncertain significance
COL4A5
(G808R)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
Single nucleotide variant
(splice acceptor variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(T1651N +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(K1065R)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GUncertain significance
COL4A5
(H1577D +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
+1 more
GUncertain significance
COL4A5
Indel
(splice acceptor variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G579E)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
Single nucleotide variant
(splice donor variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(P1011fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(G213E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
COL4A5
(G54R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
COL4A5
(G1185D)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
+1 more
GConflicting classifications of pathogenicity
COL4A5
Deletion
(inframe_deletion)
X-linked Alport syndrome
+1 more
GPathogenic/Likely pathogenic
COL4A5
Single nucleotide variant
(splice acceptor variant)
X-linked Alport syndrome
+1 more
GPathogenic/Likely pathogenic
COL4A5
(G189fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(C1527F +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G749S)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GPathogenic
COL4A5
Deletion
X-linked Alport syndrome
GLikely pathogenic
COL4A5
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
COL4A5
Single nucleotide variant
(splice donor variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G1388R +1 more)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G542V)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G1217D)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(G702R)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G494fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(G319V)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G307R)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G273R)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
Single nucleotide variant
(splice donor variant)
X-linked Alport syndrome
GPathogenic
COL4A5
(G180R)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(Y1597C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
COL4A5
(G1167S)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G1003V)
Single nucleotide variant
(missense variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(P1432fs +1 more)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G466fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(S1531fs +1 more)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G99fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(Q495fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(R1262*)
Single nucleotide variant
(nonsense)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(E157*)
Single nucleotide variant
(nonsense)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(R1313fs +1 more)
Duplication
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(R1262fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(M898fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(E228fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(T1465fs +1 more)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G775fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G1154*)
Single nucleotide variant
(nonsense)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(P880fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(L1398* +1 more)
Single nucleotide variant
(nonsense)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(P237fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(P23fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(G1060fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(R1497fs +1 more)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(Q235*)
Single nucleotide variant
(nonsense)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(P73fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(L1001*)
Single nucleotide variant
(nonsense)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(D317fs)
Deletion
(frameshift variant)
X-linked Alport syndrome
GLikely pathogenic
COL4A5
(Q1582* +1 more)
Single nucleotide variant
(nonsense)
X-linked Alport syndrome
GLikely pathogenic
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