U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC30A9
(G316D)
Single nucleotide variant
(missense variant)
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
GUncertain significance
SLC30A9
(W181*)
Single nucleotide variant
(nonsense)
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
GLikely pathogenic
SLC30A9
Single nucleotide variant
(splice donor variant)
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
GLikely pathogenic
SLC30A9
Single nucleotide variant
(intron variant)
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
GBenign
SLC30A9
Single nucleotide variant
(synonymous variant)
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
GBenign
SLC30A9
(T97A)
Single nucleotide variant
(missense variant)
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
GBenign
SLC30A9
Single nucleotide variant
(intron variant)
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
GBenign
SLC30A9
(M50V)
Single nucleotide variant
(missense variant)
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
GBenign
SLC30A9
(C30fs)
Duplication
(frameshift variant)
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
GLikely pathogenic
SLC30A9
(S14fs)
Deletion
(frameshift variant)
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
+1 more
GConflicting classifications of pathogenicity
SLC30A9
Single nucleotide variant
(synonymous variant)
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
+1 more
GBenign
SLC30A9
(A350del)
Deletion
(inframe_deletion)
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
GPathogenic
Format
Items per page
Sort by
Choose Destination