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Links from MedGen

Items: 1 to 100 of 196

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC4A1
(V822fs)
Deletion
(frameshift variant)
Hereditary spherocytosis type 4
GLikely pathogenic
SLC4A1
Microsatellite
(splice donor variant)
Hereditary spherocytosis type 4
+1 more
GConflicting classifications of pathogenicity
SLC4A1
(T444N)
Single nucleotide variant
(missense variant)
Renal tubular acidosis, distal, 4, with hemolytic anemia
+2 more
GConflicting classifications of pathogenicity
SLC4A1
(F423fs)
Insertion
(frameshift variant)
Hereditary spherocytosis type 4
GPathogenic
SLC4A1
(S538fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
SLC4A1
(R304*)
Single nucleotide variant
(nonsense)
Hereditary spherocytosis type 4
GPathogenic
SLC4A1
(G720V)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 4
GLikely pathogenic
SLC4A1
(G790D)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 4
+1 more
GConflicting classifications of pathogenicity
SLC4A1
(L706M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC4A1
(R111C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC4A1
(Q124*)
Single nucleotide variant
(nonsense)
Hereditary spherocytosis type 4
GPathogenic
SLC4A1
(P722L)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 4
GLikely pathogenic
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
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
(R490C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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
(S510R)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 4
GUncertain significance
SLC4A1
(G771V)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 4
GLikely pathogenic
SLC4A1
(K757*)
Single nucleotide variant
(nonsense)
Hereditary spherocytosis type 4
GPathogenic
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
+2 more
GUncertain significance
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant distal renal tubular acidosis
+2 more
GUncertain significance
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant distal renal tubular acidosis
+2 more
GUncertain significance
SLC4A1
Single nucleotide variant
(intron variant)
Autosomal dominant distal renal tubular acidosis
+2 more
GConflicting classifications of pathogenicity
SLC4A1
(I276V)
Single nucleotide variant
(missense variant)
Autosomal dominant distal renal tubular acidosis
+3 more
GConflicting classifications of pathogenicity
SLC4A1
(A420T)
Single nucleotide variant
(missense variant)
Autosomal dominant distal renal tubular acidosis
+3 more
GConflicting classifications of pathogenicity
SLC4A1
Single nucleotide variant
(synonymous variant)
Autosomal dominant distal renal tubular acidosis
+3 more
GConflicting classifications of pathogenicity
SLC4A1
(E906Q)
Single nucleotide variant
(missense variant)
Autosomal dominant distal renal tubular acidosis
+4 more
GConflicting classifications of pathogenicity
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant distal renal tubular acidosis
+2 more
GConflicting classifications of pathogenicity
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant distal renal tubular acidosis
+2 more
GUncertain significance
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant distal renal tubular acidosis
+2 more
GUncertain significance
SLC4A1
Single nucleotide variant
(synonymous variant)
Autosomal dominant distal renal tubular acidosis
+2 more
GUncertain significance
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant distal renal tubular acidosis
+11 more
GUncertain significance
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant distal renal tubular acidosis
+2 more
GUncertain significance
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant distal renal tubular acidosis
+2 more
GUncertain significance
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant distal renal tubular acidosis
+2 more
GUncertain significance
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant distal renal tubular acidosis
+2 more
GUncertain significance
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant distal renal tubular acidosis
+2 more
GUncertain significance
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 4
+2 more
GConflicting classifications of pathogenicity
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 4
+2 more
GUncertain significance
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 4
+2 more
GBenign/Likely benign
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant distal renal tubular acidosis
+2 more
GBenign/Likely benign
SLC4A1
Single nucleotide variant
(synonymous variant)
Hemolytic anemia
+4 more
GConflicting classifications of pathogenicity
SLC4A1
Single nucleotide variant
(synonymous variant)
Hemolytic anemia
+3 more
GConflicting classifications of pathogenicity
SLC4A1
Single nucleotide variant
(synonymous variant)
Hereditary spherocytosis type 4
+2 more
GConflicting classifications of pathogenicity
SLC4A1
Single nucleotide variant
(synonymous variant)
Hereditary spherocytosis type 4
+2 more
GUncertain significance
SLC4A1
Single nucleotide variant
(5 prime UTR variant)
Hereditary spherocytosis type 4
+2 more
GUncertain significance
SLC4A1
(N87K)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 4
+2 more
GUncertain significance
SLC4A1
(L107F)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 4
+2 more
GUncertain significance
SLC4A1
Single nucleotide variant
(synonymous variant)
Autosomal dominant distal renal tubular acidosis
+3 more
GConflicting classifications of pathogenicity
SLC4A1
(R384H)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 4
+3 more
GConflicting classifications of pathogenicity
SLC4A1
Single nucleotide variant
(synonymous variant)
Hereditary spherocytosis type 4
+2 more
GUncertain significance
SLC4A1
(V491M)
Single nucleotide variant
(missense variant)
Autosomal dominant distal renal tubular acidosis
+11 more
GUncertain significance
SLC4A1
Single nucleotide variant
(intron variant)
Autosomal dominant distal renal tubular acidosis
+2 more
GUncertain significance
SLC4A1
Single nucleotide variant
(synonymous variant)
Hemolytic anemia
+4 more
GConflicting classifications of pathogenicity
SLC4A1
Single nucleotide variant
(synonymous variant)
Autosomal dominant distal renal tubular acidosis
+3 more
GConflicting classifications of pathogenicity
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant distal renal tubular acidosis
+2 more
GUncertain significance
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 4
+2 more
GUncertain significance
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 4
+2 more
GUncertain significance
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 4
+2 more
GUncertain significance
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 4
+2 more
GUncertain significance
SLC4A1
(R233C)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 4
+3 more
GUncertain significance
SLC4A1
(F236V)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 4
+3 more
GConflicting classifications of pathogenicity
SLC4A1
(P240L)
Single nucleotide variant
(missense variant)
Autosomal dominant distal renal tubular acidosis
+2 more
GConflicting classifications of pathogenicity
SLC4A1
(F401C)
Single nucleotide variant
(missense variant)
Autosomal dominant distal renal tubular acidosis
+2 more
GUncertain significance
SLC4A1
(S643F)
Single nucleotide variant
(missense variant)
Autosomal dominant distal renal tubular acidosis
+2 more
GConflicting classifications of pathogenicity
SLC4A1
(S801R)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 4
+4 more
GConflicting classifications of pathogenicity
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant distal renal tubular acidosis
+2 more
GUncertain significance
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant distal renal tubular acidosis
+2 more
GUncertain significance
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant distal renal tubular acidosis
+2 more
GUncertain significance
SLC4A1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant distal renal tubular acidosis
+2 more
GUncertain significance
SLC4A1
(T115I)
Single nucleotide variant
(missense variant)
Autosomal dominant distal renal tubular acidosis
+2 more
GUncertain significance
SLC4A1
Single nucleotide variant
(intron variant)
Autosomal dominant distal renal tubular acidosis
+3 more
GConflicting classifications of pathogenicity
SLC4A1
(V245M)
Single nucleotide variant
(missense variant)
Autosomal dominant distal renal tubular acidosis
+3 more
GConflicting classifications of pathogenicity
SLC4A1
Single nucleotide variant
(synonymous variant)
SLC4A1-related disorder
+13 more
GBenign/Likely benign
SLC4A1
(R760W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC4A1
Single nucleotide variant
(synonymous variant)
SLC4A1-related disorder
+12 more
GBenign/Likely benign
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