U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC4A3
(R343C +1 more)
Single nucleotide variant
(missense variant +1 more)
Short QT syndrome 7
GLikely pathogenic
SLC4A3
(D496N +1 more)
Single nucleotide variant
(missense variant +1 more)
Short QT syndrome 7
GUncertain significance
SLC4A3
(K486E +1 more)
Single nucleotide variant
(missense variant +1 more)
Short QT syndrome 7
GUncertain significance
SLC4A3
(R343H)
Single nucleotide variant
(missense variant +1 more)
Short QT syndrome 7
GPathogenic
SLC4A3
(R594Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
Format
Sort by
Choose Destination