U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 409

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A3, MFF-DT
(G219D)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+1 more
GLikely pathogenic
COL4A4
(G1130V)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
Deletion
(inframe_deletion)
Autosomal dominant Alport syndrome
+1 more
GUncertain significance
COL4A4
(G1304fs)
Deletion
(frameshift variant)
Autosomal dominant Alport syndrome
GPathogenic
COL4A4
Deletion
Autosomal dominant Alport syndrome
GPathogenic
COL4A3, MFF-DT
(G363W)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
Deletion
(splice donor variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G955R)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(P272S)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
+1 more
GUncertain significance
COL4A3, MFF-DT
(V1317M)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+1 more
GUncertain significance
COL4A3, MFF-DT
(G904E)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G605V)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G124R)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G1024V)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GUncertain significance
COL4A3, MFF-DT
(G777D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
COL4A3, MFF-DT
(G315D)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A4
(C55*)
Single nucleotide variant
(nonsense)
Autosomal dominant Alport syndrome
GPathogenic
COL4A3, MFF-DT
(G470E)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(G883E)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GUncertain significance
COL4A4
(C1588fs)
Duplication
(frameshift variant)
Autosomal dominant Alport syndrome
+1 more
GPathogenic/Likely pathogenic
COL4A3, MFF-DT
Single nucleotide variant
(intron variant)
Autosomal recessive Alport syndrome
+3 more
GBenign/Likely benign
COL4A3, MFF-DT
(V92I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(intron variant)
Autosomal dominant Alport syndrome
+3 more
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(intron variant)
Autosomal recessive Alport syndrome
+3 more
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(intron variant)
Autosomal dominant Alport syndrome
+3 more
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(intron variant)
Autosomal dominant Alport syndrome
+3 more
GBenign/Likely benign
COL4A3, MFF-DT
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(intron variant)
Autosomal dominant Alport syndrome
+3 more
GLikely benign
COL4A3, MFF-DT
(F190L)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+3 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(G777V)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+3 more
GPathogenic/Likely pathogenic
COL4A3, MFF-DT
(G532S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GLikely pathogenic
COL4A3, MFF-DT
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GLikely pathogenic
COL4A3, MFF-DT
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GLikely pathogenic
COL4A3, MFF-DT
(G1155S)
Single nucleotide variant
(missense variant)
Benign familial hematuria
+3 more
GLikely pathogenic
COL4A3, MFF-DT
(S678Y)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
COL4A3, MFF-DT
Single nucleotide variant
(splice donor variant)
Autosomal dominant Alport syndrome
+3 more
GLikely pathogenic
COL4A3, MFF-DT
(G464E)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+3 more
GLikely pathogenic
COL4A3, MFF-DT
(G1334E)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
COL4A3, MFF-DT
(G1155D)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
COL4A3, MFF-DT
(G973fs)
Microsatellite
(frameshift variant)
Autosomal dominant Alport syndrome
+3 more
GPathogenic
MFF-DT, COL4A3
(D1078G)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+3 more
GUncertain significance
COL4A3, MFF-DT
(G421fs)
Deletion
(frameshift variant)
Autosomal dominant Alport syndrome
+3 more
GPathogenic/Likely pathogenic
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GUncertain significance
COL4A3, MFF-DT
(Q914K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MFF-DT, COL4A3
(P685L)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+3 more
GUncertain significance
COL4A3, MFF-DT
(P1132H)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+3 more
GUncertain significance
COL4A3, LOC129935730
(P9S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(G1207R)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+3 more
GPathogenic
MFF-DT, COL4A3
(G619E)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+3 more
GUncertain significance
COL4A3, MFF-DT
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(T87M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(G458R)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+3 more
GConflicting classifications of pathogenicity
COL4A5
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
COL4A5
(G799D)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G730R)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GUncertain significance
COL4A3, MFF-DT
(G198V)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GUncertain significance
COL4A3, MFF-DT
(G1573S)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GUncertain significance
COL4A3, MFF-DT
(R341C)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+2 more
GUncertain significance
COL4A3, MFF-DT
(G139E)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GUncertain significance
COL4A3, MFF-DT
(G904V)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GUncertain significance
COL4A3, MFF-DT
(I1220R)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+3 more
GUncertain significance
COL4A4
Deletion
(inframe_deletion)
Autosomal dominant Alport syndrome
+1 more
GLikely pathogenic
COL4A3, MFF-DT
(G862R)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(G294R)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
(P1076L)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+3 more
GUncertain significance
COL4A3, MFF-DT
(E1084D)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+3 more
GUncertain significance
COL4A3, MFF-DT
(P196L)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+3 more
GUncertain significance
COL4A3, MFF-DT
(P657L)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+3 more
GUncertain significance
COL4A3, LOC129935730
(R4Q)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+3 more
GUncertain significance
COL4A3, MFF-DT
(G712V)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GLikely pathogenic
COL4A3, MFF-DT
Deletion
(intron variant)
Autosomal recessive Alport syndrome
+2 more
GBenign
COL4A3, MFF-DT
Single nucleotide variant
(intron variant)
Autosomal dominant Alport syndrome
+3 more
GBenign/Likely benign
COL4A3, MFF-DT
(G195S)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GAffects
COL4A3, MFF-DT
(P1067L)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+3 more
GUncertain significance
COL4A3, MFF-DT
(G230S)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+3 more
GLikely pathogenic
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
Autosomal recessive Alport syndrome
+1 more
GUncertain significance
COL4A3, MFF-DT
(A1252G)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
+1 more
GUncertain significance
COL4A3, MFF-DT
(S1108I)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
+1 more
GUncertain significance
COL4A3, MFF-DT
(M1585V)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
+1 more
GUncertain significance
COL4A3, MFF-DT
(A1439T)
Single nucleotide variant
(missense variant)
Autosomal recessive Alport syndrome
+1 more
GUncertain significance
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
Autosomal dominant Alport syndrome
+2 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
Single nucleotide variant
(intron variant)
Autosomal dominant Alport syndrome
+3 more
GBenign/Likely benign
COL4A3, MFF-DT
(G1167E)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GPathogenic
COL4A3, MFF-DT
(G1228V)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+4 more
GLikely pathogenic
COL4A3, MFF-DT
(G683E)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+3 more
GConflicting classifications of pathogenicity
COL4A3, MFF-DT
(G219V)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
+2 more
GLikely pathogenic
COL4A3, MFF-DT
(G868E)
Single nucleotide variant
(missense variant)
Autosomal dominant Alport syndrome
GPathogenic
COL4A3, MFF-DT
Single nucleotide variant
(intron variant)
Autosomal dominant Alport syndrome
+3 more
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
Autosomal dominant Alport syndrome
+3 more
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
Benign familial hematuria
+3 more
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
Benign familial hematuria
+3 more
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
Autosomal dominant Alport syndrome
+3 more
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
Autosomal dominant Alport syndrome
+3 more
GLikely benign
COL4A3, MFF-DT
Single nucleotide variant
(synonymous variant)
Autosomal dominant Alport syndrome
+3 more
GLikely benign
Format
Items per page
Sort by
Choose Destination