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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC25A24
(P430L +1 more)
Single nucleotide variant
(missense variant)
Fontaine progeroid syndrome
GUncertain significance
LOC112577470, SLC25A24
(M1L)
Single nucleotide variant
(missense variant +1 more)
Fontaine progeroid syndrome
GUncertain significance
SLC25A24
(V123M +1 more)
Single nucleotide variant
(missense variant)
Fontaine progeroid syndrome
GUncertain significance
SLC25A24
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SLC25A24
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
SLC25A24
Deletion
(splice donor variant)
Fontaine progeroid syndrome
GUncertain significance
SLC25A24
(R198H +1 more)
Single nucleotide variant
(missense variant)
Fontaine progeroid syndrome
+1 more
GPathogenic
SLC25A24
(R198C +1 more)
Single nucleotide variant
(missense variant)
Fontaine progeroid syndrome
GPathogenic
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