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Links from MedGen

Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAX4
Deletion
(inframe_deletion)
Diabetes mellitus, ketosis-prone
+2 more
GUncertain significance
PAX4
(S75R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PAX4
(G261fs)
Duplication
(frameshift variant)
Maturity-onset diabetes of the young type 9
+1 more
GUncertain significance
PAX4
(V152I)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 9
+1 more
GUncertain significance
PAX4
(R226H)
Single nucleotide variant
(missense variant)
Diabetes mellitus, ketosis-prone
+3 more
GUncertain significance
PAX4
Deletion
(splice donor variant)
Maturity-onset diabetes of the young type 9
+1 more
GUncertain significance
PAX4
Single nucleotide variant
(intron variant)
Diabetes mellitus, ketosis-prone
+3 more
GBenign/Likely benign
PAX4
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
PAX4
(R39L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GLikely benign
PAX4
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
PAX4
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
PAX4
(R163Q)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 9
+3 more
GUncertain significance
PAX4
Single nucleotide variant
(intron variant)
not provided
+3 more
GUncertain significance
PAX4
(A338V)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
PAX4
Single nucleotide variant
(synonymous variant)
Type 2 diabetes mellitus
+4 more
GLikely benign
PAX4
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
PAX4
(R226C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PAX4
(R60H)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 9
+3 more
GUncertain significance
PAX4
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
PAX4
(G71C)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+4 more
GConflicting classifications of pathogenicity
PAX4
(S180N)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 9
GUncertain significance
PAX4
(R39Q)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+4 more
GBenign/Likely benign
PAX4
(R87Q)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+4 more
GUncertain significance
PAX4
(R191H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PAX4
(R172Q)
Single nucleotide variant
(missense variant)
Diabetes mellitus, ketosis-prone
+4 more
GUncertain significance
PAX4
Single nucleotide variant
(splice acceptor variant)
Maturity-onset diabetes of the young type 9
GPathogenic
PAX4
(R172W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PAX4
(R45W)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
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