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Links from MedGen

Items: 49

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC4A1
Single nucleotide variant
(intron variant)
Autosomal dominant distal renal tubular acidosis
+11 more
GLikely benign
SLC4A1
(A735V)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 4
+11 more
GUncertain significance
SLC4A1
Duplication
(intron variant)
Malaria, susceptibility to
+11 more
GUncertain significance
SLC4A1
(P175T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+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)
BLOOD GROUP--SWANN SYSTEM
+11 more
GUncertain significance
SLC4A1
(T686M)
Single nucleotide variant
(missense variant)
Southeast Asian ovalocytosis
+11 more
GUncertain significance
SLC4A1
(R782C)
Single nucleotide variant
(missense variant)
not provided
+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)
Southeast Asian ovalocytosis
+11 more
GUncertain significance
SLC4A1
(G95R)
Single nucleotide variant
(missense variant)
not provided
+11 more
GUncertain significance
SLC4A1
Single nucleotide variant
(intron variant)
not provided
+11 more
GBenign/Likely benign
SLC4A1
(E906*)
Single nucleotide variant
(nonsense)
Southeast Asian ovalocytosis
+11 more
GLikely pathogenic
SLC4A1
(E329K)
Single nucleotide variant
(missense variant)
BLOOD GROUP--WALDNER TYPE
+11 more
GUncertain significance
SLC4A1
Single nucleotide variant
(synonymous variant)
not provided
+11 more
GLikely benign
SLC4A1
Single nucleotide variant
(synonymous variant)
Malaria, susceptibility to
+11 more
GLikely benign
SLC4A1
Single nucleotide variant
(synonymous variant)
not provided
+11 more
GLikely benign
SLC4A1
Single nucleotide variant
(intron variant)
Autosomal dominant distal renal tubular acidosis
+11 more
GLikely benign
SLC4A1
(R180C)
Single nucleotide variant
(missense variant)
not provided
+11 more
GUncertain significance
SLC4A1
(R387Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+12 more
GConflicting classifications of pathogenicity
SLC4A1
(R901P)
Single nucleotide variant
(missense variant)
BLOOD GROUP--WALDNER TYPE
+11 more
GUncertain significance
SLC4A1
(M587L)
Single nucleotide variant
(missense variant)
BLOOD GROUP--WALDNER TYPE
+12 more
GUncertain significance
SLC4A1
(L394P)
Single nucleotide variant
(missense variant)
not provided
+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)
not provided
+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)
not specified
+12 more
GBenign/Likely benign
SLC4A1
Single nucleotide variant
(synonymous variant)
not provided
+11 more
GBenign/Likely benign
SLC4A1
Single nucleotide variant
(intron variant)
Cryohydrocytosis
+11 more
GBenign/Likely benign
SLC4A1
Single nucleotide variant
(synonymous variant)
Southeast Asian ovalocytosis
+11 more
GLikely benign
SLC4A1
Single nucleotide variant
(synonymous variant)
Autosomal dominant distal renal tubular acidosis
+12 more
GBenign/Likely benign
SLC4A1
(R344*)
Single nucleotide variant
(nonsense)
Malaria, susceptibility to
+11 more
GPathogenic/Likely pathogenic
SLC4A1
(R514H)
Single nucleotide variant
(missense variant)
BLOOD GROUP--WALDNER TYPE
+11 more
GUncertain significance
SLC4A1
(G494S)
Single nucleotide variant
(missense variant)
not provided
+11 more
GUncertain significance
SLC4A1
(R871H)
Single nucleotide variant
(missense variant)
Southeast Asian ovalocytosis
+11 more
GUncertain significance
SLC4A1
(E72D)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 4
+12 more
GBenign/Likely benign
SLC4A1
(G748E)
Single nucleotide variant
(missense variant)
Autosomal dominant distal renal tubular acidosis
+11 more
GUncertain significance
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--WRIGHT ANTIGEN
+12 more
GBenign/Likely benign
SLC4A1
(V488M)
Single nucleotide variant
(missense variant)
Cryohydrocytosis
+11 more
GPathogenic/Likely pathogenic
SLC4A1
(A858D)
Single nucleotide variant
(missense variant)
Renal tubular acidosis, distal, 4, with hemolytic anemia
+11 more
GConflicting classifications of pathogenicity
SLC4A1
(G701D)
Single nucleotide variant
(missense variant)
not provided
+12 more
GPathogenic
SLC4A1
(R589C)
Single nucleotide variant
(missense variant)
not provided
+11 more
GPathogenic/Likely pathogenic
SLC4A1
(E658K)
Single nucleotide variant
(missense variant)
Autosomal dominant distal renal tubular acidosis
+3 more
GConflicting classifications of pathogenicity
SLC4A1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant distal renal tubular acidosis
+12 more
GUncertain significance
SLC4A1
Deletion
(inframe_deletion)
Renal tubular acidosis, distal, 4, with hemolytic anemia
+11 more
GPathogenic/Likely pathogenic
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