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Links from MedGen

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DMXL2
(M2515V +4 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+4 more
GUncertain significance
DMXL2
(V1129I +1 more)
Single nucleotide variant
(missense variant +2 more)
Polyendocrine-polyneuropathy syndrome
+1 more
GUncertain significance
DMXL2
(E956D +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
DMXL2
Single nucleotide variant
(synonymous variant +1 more)
Polyendocrine-polyneuropathy syndrome
+3 more
GBenign
DMXL2
(S1208P +1 more)
Single nucleotide variant
(missense variant +2 more)
Polyendocrine-polyneuropathy syndrome
+3 more
GBenign
DMXL2
Single nucleotide variant
(synonymous variant +1 more)
Polyendocrine-polyneuropathy syndrome
+3 more
GBenign
DMXL2
Single nucleotide variant
(intron variant)
Polyendocrine-polyneuropathy syndrome
+3 more
GBenign
DMXL2
Deletion
(intron variant)
Polyendocrine-polyneuropathy syndrome
+3 more
GBenign
DMXL2
(T417M +1 more)
Single nucleotide variant
(missense variant +1 more)
Hearing loss, autosomal dominant 71
+3 more
GBenign
DMXL2
Single nucleotide variant
(intron variant)
Hearing loss, autosomal dominant 71
+3 more
GBenign
DMXL2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+3 more
GBenign
DMXL2
Deletion
(intron variant)
Polyendocrine-polyneuropathy syndrome
+3 more
GBenign
DMXL2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 81
+3 more
GBenign
DMXL2
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 81
+3 more
GBenign
DMXL2
Single nucleotide variant
(synonymous variant +2 more)
Polyendocrine-polyneuropathy syndrome
+3 more
GBenign
DMXL2, LOC126862131
(P2910T +6 more)
Single nucleotide variant
(missense variant +1 more)
Polyendocrine-polyneuropathy syndrome
GUncertain significance
DMXL2
(K1594Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
DMXL2
(S1287I +1 more)
Single nucleotide variant
(missense variant +2 more)
Polyendocrine-polyneuropathy syndrome
+3 more
GBenign/Likely benign
DMXL2
Deletion
(intron variant)
Polyendocrine-polyneuropathy syndrome
+3 more
GBenign/Likely benign
DMXL2
Deletion
(inframe_deletion +1 more)
See cases
+2 more
GConflicting classifications of pathogenicity
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