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Links from MedGen

Items: 60

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCBE1
(M1R)
Single nucleotide variant
(missense variant +1 more)
Renal tubular acidosis, distal, 4, with hemolytic anemia
+1 more
GUncertain significance
SLC4A1
(G711S)
Single nucleotide variant
(missense variant)
Renal tubular acidosis, distal, 4, with hemolytic anemia
+1 more
GUncertain significance
SLC4A1
(T444N)
Single nucleotide variant
(missense variant)
Renal tubular acidosis, distal, 4, with hemolytic anemia
+2 more
GConflicting classifications of pathogenicity
SLC4A1
Single nucleotide variant
(intron variant)
not provided
+11 more
GLikely benign
SLC4A1
(A735V)
Single nucleotide variant
(missense variant)
not provided
+11 more
GUncertain significance
SLC4A1
Duplication
(intron variant)
not provided
+12 more
GConflicting classifications of pathogenicity
SLC4A1
(P175T)
Single nucleotide variant
(missense variant)
Southeast Asian ovalocytosis
+12 more
GConflicting classifications of pathogenicity
SLC4A1
(R155Q)
Single nucleotide variant
(missense variant)
not provided
+11 more
GUncertain significance
SLC4A1
(D277N)
Single nucleotide variant
(missense variant)
not provided
+11 more
GUncertain significance
SLC4A1
(T686M)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 4
+11 more
GUncertain significance
SLC4A1
(R782C)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 4
+11 more
GConflicting classifications of pathogenicity
SLC4A1
(V729M)
Single nucleotide variant
(missense variant)
not provided
+12 more
GUncertain significance
SLC4A1
(T444S)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 4
+11 more
GUncertain significance
SLC4A1
(G95R)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 4
+11 more
GUncertain significance
SLC4A1
(E238V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SLC4A1
(A668T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC4A1
(L440Q)
Single nucleotide variant
(missense variant)
Renal tubular acidosis, distal, 4, with hemolytic anemia
GUncertain significance
SLC4A1
Single nucleotide variant
(intron variant)
Southeast Asian ovalocytosis
+11 more
GBenign/Likely benign
SLC4A1
(E906*)
Single nucleotide variant
(nonsense)
not provided
+11 more
GLikely pathogenic
SLC4A1
(E329K)
Single nucleotide variant
(missense variant)
not provided
+11 more
GUncertain significance
SLC4A1
Single nucleotide variant
(synonymous variant)
not provided
+11 more
GLikely benign
SLC4A1
Single nucleotide variant
(synonymous variant)
Hereditary spherocytosis type 4
+11 more
GLikely benign
SLC4A1
Single nucleotide variant
(synonymous variant)
BLOOD GROUP--SWANN SYSTEM
+11 more
GLikely benign
SLC4A1
Single nucleotide variant
(intron variant)
BLOOD GROUP--SWANN SYSTEM
+11 more
GLikely benign
SLC4A1
(R180C)
Single nucleotide variant
(missense variant)
not provided
+11 more
GUncertain significance
SLC4A1
(R387Q)
Single nucleotide variant
(missense variant)
not provided
+12 more
GConflicting classifications of pathogenicity
SLC4A1
(R901P)
Single nucleotide variant
(missense variant)
not provided
+11 more
GUncertain significance
SLC4A1
(M587L)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 4
+12 more
GUncertain significance
SLC4A1
(L394P)
Single nucleotide variant
(missense variant)
Southeast Asian ovalocytosis
+11 more
GConflicting classifications of pathogenicity
SLC4A1
(G796A)
Single nucleotide variant
(missense variant)
not provided
+11 more
GUncertain significance
SLC4A1
(V872I)
Single nucleotide variant
(missense variant)
Southeast Asian ovalocytosis
+10 more
GUncertain significance
SLC4A1
(M909T)
Single nucleotide variant
(missense variant)
BLOOD GROUP--SWANN SYSTEM
+11 more
GLikely pathogenic
SLC4A1
(E152K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+12 more
GUncertain significance
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant distal renal tubular acidosis
+11 more
GUncertain significance
SLC4A1
(V491M)
Single nucleotide variant
(missense variant)
Autosomal dominant distal renal tubular acidosis
+11 more
GUncertain significance
SLC4A1
Single nucleotide variant
(synonymous variant)
SLC4A1-related disorder
+13 more
GBenign/Likely benign
SLC4A1
Single nucleotide variant
(synonymous variant)
SLC4A1-related disorder
+12 more
GBenign/Likely benign
SLC4A1
Single nucleotide variant
(intron variant)
not provided
+12 more
GBenign/Likely benign
SLC4A1
Single nucleotide variant
(synonymous variant)
not provided
+12 more
GLikely benign
SLC4A1
Single nucleotide variant
(synonymous variant)
not provided
+12 more
GBenign/Likely benign
SLC4A1
(R344*)
Single nucleotide variant
(nonsense)
not provided
+11 more
GPathogenic/Likely pathogenic
SLC4A1
(R514H)
Single nucleotide variant
(missense variant)
Southeast Asian ovalocytosis
+11 more
GUncertain significance
SLC4A1
(G494S)
Single nucleotide variant
(missense variant)
not provided
+11 more
GUncertain significance
WDR72
(R896*)
Single nucleotide variant
(nonsense +1 more)
Amelogenesis imperfecta hypomaturation type 2A3
GPathogenic
WDR72
(L841Q)
Single nucleotide variant
(missense variant +1 more)
Renal tubular acidosis, distal, 4, with hemolytic anemia
GPathogenic
WDR72
(R593G)
Single nucleotide variant
(missense variant +1 more)
Amelogenesis imperfecta hypomaturation type 2A3
GUncertain significance
SLC4A1
(R871H)
Single nucleotide variant
(missense variant)
Southeast Asian ovalocytosis
+11 more
GUncertain significance
SLC4A1
(E72D)
Single nucleotide variant
(missense variant)
Autosomal dominant distal renal tubular acidosis
+12 more
GBenign/Likely benign
SLC4A1
(G748E)
Single nucleotide variant
(missense variant)
Autosomal dominant distal renal tubular acidosis
+11 more
GUncertain significance
SLC4A1
(R180H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
SLC4A1
Single nucleotide variant
(synonymous variant)
Autosomal dominant distal renal tubular acidosis
+13 more
GBenign/Likely benign
SLC4A1
Single nucleotide variant
(intron variant)
BLOOD GROUP--DIEGO SYSTEM
+12 more
GBenign/Likely benign
SLC4A1
(R602P)
Single nucleotide variant
(missense variant)
Renal tubular acidosis, distal, 4, with hemolytic anemia
GPathogenic
SLC4A1
(V488M)
Single nucleotide variant
(missense variant)
Autosomal dominant distal renal tubular acidosis
+11 more
GPathogenic/Likely pathogenic
SLC4A1
(V850del)
Microsatellite
(inframe_deletion)
Renal tubular acidosis, distal, 4, with hemolytic anemia
GPathogenic
SLC4A1
(A858D)
Single nucleotide variant
(missense variant)
Autosomal dominant distal renal tubular acidosis
+11 more
GPathogenic/Likely pathogenic
SLC4A1
(G701D)
Single nucleotide variant
(missense variant)
Renal tubular acidosis, distal, 4, with hemolytic anemia
+12 more
GPathogenic
SLC4A1
(R589C)
Single nucleotide variant
(missense variant)
Renal tubular acidosis, distal, 4, with hemolytic anemia
+11 more
GPathogenic/Likely pathogenic
SLC4A1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant distal renal tubular acidosis
+12 more
GUncertain significance
SLC4A1
Deletion
(inframe_deletion)
Autosomal dominant distal renal tubular acidosis
+11 more
GPathogenic/Likely pathogenic
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