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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DDR2
(N721S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DDR2
Single nucleotide variant
(intron variant)
Warburg-cinotti syndrome
+1 more
GUncertain significance
DDR2
(L610P)
Single nucleotide variant
(missense variant)
Warburg-cinotti syndrome
GPathogenic
DDR2
(Y740C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDR2
Single nucleotide variant
(intron variant)
Warburg-cinotti syndrome
+3 more
GBenign
DDR2
Single nucleotide variant
(intron variant)
Warburg-cinotti syndrome
+3 more
GBenign
DDR2
Single nucleotide variant
(intron variant)
Warburg-cinotti syndrome
+3 more
GBenign
DDR2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
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