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Links from MedGen

Items: 1 to 100 of 732

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A3, MFF-DT
(G596V)
Single nucleotide variant
(missense variant)
Alport syndrome
GLikely pathogenic
COL4A5
Deletion
(splice donor variant)
Alport syndrome
GLikely pathogenic
COL4A5
(T1480fs +1 more)
Deletion
(frameshift variant)
Alport syndrome
GPathogenic
COL4A5
(G1445E +1 more)
Single nucleotide variant
(missense variant)
Alport syndrome
GLikely pathogenic
COL4A4
Single nucleotide variant
(splice donor variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(intron variant)
Alport syndrome
GUncertain significance
COL4A4
(G394V)
Single nucleotide variant
(missense variant)
Alport syndrome
GLikely pathogenic
COL4A5
(G1258V)
Single nucleotide variant
(missense variant)
Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G342D)
Single nucleotide variant
(missense variant)
Alport syndrome
GUncertain significance
COL4A5
(Y1597* +1 more)
Single nucleotide variant
(nonsense)
X-linked Alport syndrome
GPathogenic
COL4A4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL4A4
(G414C)
Single nucleotide variant
(missense variant)
Alport syndrome
GLikely pathogenic
COL4A5
(G1235C)
Single nucleotide variant
(missense variant)
Alport syndrome
GLikely pathogenic
COL4A5
Single nucleotide variant
(splice donor variant)
Alport syndrome
GPathogenic
COL4A5
(G1185R)
Single nucleotide variant
(missense variant)
Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(E641D)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
COL4A4
Single nucleotide variant
(intron variant)
not provided
GBenign
COL4A4
Single nucleotide variant
(intron variant)
not provided
GBenign
MFF-DT, COL4A3
(G1009fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
COL4A4
(P1215L)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
+2 more
GUncertain significance
COL4A4
(R1038G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A3, MFF-DT
(P1067L)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+3 more
GUncertain significance
COL4A4
(K269E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A4
(G765V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A4
(H1013Y)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
COL4A4
(R1119G)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
COL4A4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL4A4
(G1005E)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
+2 more
GConflicting classifications of pathogenicity
COL4A4
Duplication
(intron variant)
not provided
GBenign/Likely benign
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A4
Duplication
(intron variant)
not provided
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, MFF-DT
(K34fs)
Microsatellite
(frameshift variant)
Autosomal dominant Alport syndrome
+3 more
GPathogenic
COL4A3, MFF-DT
(L175fs)
Duplication
(frameshift variant)
not provided
GPathogenic
COL4A3, MFF-DT
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
COL4A5
(G1294S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
COL4A4
Single nucleotide variant
(splice acceptor variant)
not provided
+3 more
GLikely pathogenic
MYO15A
(P2642L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CLDN14, CLDN14-AS1
(G17S)
Single nucleotide variant
(missense variant)
Alport syndrome
GUncertain significance
COL4A3, MFF-DT
(G94A)
Single nucleotide variant
(missense variant)
COL4A3-related condition
+1 more
GUncertain significance
COL4A4
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
COL4A4
(R1565H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A3, MFF-DT
(G91D)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
COL4A3, MFF-DT
(A1555T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A3, MFF-DT
(T1594S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A3, MFF-DT
(A1555V)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
COL4A4
(G1364V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A3, MFF-DT
(P1419T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A4
(G1145E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A4
Single nucleotide variant
(synonymous variant)
COL4A4-related condition
+1 more
GConflicting classifications of pathogenicity
COL4A4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
COL4A4
(R708I)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(R229W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A3, MFF-DT
(G1039E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A4
(N488K)
Single nucleotide variant
(missense variant)
Benign familial hematuria
+2 more
GUncertain significance
COL4A3, MFF-DT
(C1548Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A4
(L491F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(P176R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL4A4
(G686D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A3, LOC129935730
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL4A4
(L871F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A4
(P245L)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
+2 more
GUncertain significance
COL4A4
Single nucleotide variant
(synonymous variant)
not provided
GPathogenic
COL4A4
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(A1589T)
Single nucleotide variant
(missense variant)
Alport syndrome
GUncertain significance
COL4A3, MFF-DT
(G1484R)
Single nucleotide variant
(missense variant)
Benign familial hematuria
+3 more
GUncertain significance
COL4A3, MFF-DT
(G1286V)
Single nucleotide variant
(missense variant)
Alport syndrome
GUncertain significance
COL4A3, MFF-DT
(P1255H)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+3 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
Alport syndrome
GUncertain significance
COL4A3, MFF-DT
(M1085R)
Single nucleotide variant
(missense variant)
Benign familial hematuria
+3 more
GUncertain significance
COL4A3, MFF-DT
(V576A)
Single nucleotide variant
(missense variant)
Alport syndrome
GUncertain significance
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
Autosomal dominant Alport syndrome
+3 more
GLikely benign
COL4A3, MFF-DT
(I223T)
Single nucleotide variant
(missense variant)
Alport syndrome
GUncertain significance
COL4A4
(P78S)
Single nucleotide variant
(missense variant)
Benign familial hematuria
+2 more
GConflicting classifications of pathogenicity
COL4A4
(P256S)
Single nucleotide variant
(missense variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(synonymous variant)
Alport syndrome
GUncertain significance
COL4A4
(L283M)
Single nucleotide variant
(missense variant)
Alport syndrome
GUncertain significance
COL4A4
(P529S)
Single nucleotide variant
(missense variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(synonymous variant)
Alport syndrome
GUncertain significance
COL4A4
Single nucleotide variant
(synonymous variant)
Alport syndrome
GUncertain significance
COL4A4
(Q1610R)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL4A5
Duplication
(splice donor variant)
Alport syndrome
GLikely pathogenic
COL4A5
(Q1186*)
Single nucleotide variant
(nonsense)
Alport syndrome
GPathogenic
COL4A5
(P1584H +1 more)
Single nucleotide variant
(missense variant)
Alport syndrome
GPathogenic
COL4A5
(R777C)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL4A3, MFF-DT
(G1488R)
Single nucleotide variant
(missense variant)
Alport syndrome
GUncertain significance
COL4A5
(G1454fs +1 more)
Duplication
(frameshift variant)
Alport syndrome
GPathogenic
COL4A5
Deletion
(splice donor variant)
Alport syndrome
GPathogenic
COL4A5
(P145L)
Single nucleotide variant
(missense variant)
Alport syndrome
GUncertain significance
COL4A5
Single nucleotide variant
(splice acceptor variant)
Alport syndrome
GPathogenic
COL4A4
(R1400G)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COL4A5
(G893A)
Single nucleotide variant
(missense variant)
Alport syndrome
GPathogenic
COL4A5
(Q1289* +1 more)
Single nucleotide variant
(nonsense)
Alport syndrome
GPathogenic
COL4A5
(G710E)
Single nucleotide variant
(missense variant)
Alport syndrome
GLikely pathogenic
COL4A5
(P511fs)
Deletion
(frameshift variant)
Alport syndrome
GLikely pathogenic
COL4A5
Single nucleotide variant
(splice acceptor variant)
Alport syndrome
GLikely pathogenic
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