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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DOP1B, DSCAM
+217 more
Copy number gain
Complete trisomy 21 syndrome
GPathogenic
GATA1
Single nucleotide variant
(intron variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+5 more
GBenign/Likely benign
GATA1
(R298Q)
Single nucleotide variant
(missense variant)
Complete trisomy 21 syndrome
+5 more
GUncertain significance
GATA1
(Y78fs)
Microsatellite
(frameshift variant)
Diamond-Blackfan anemia
+2 more
GPathogenic
LOC105374344, RNF212
Single nucleotide variant
(non-coding transcript variant)
Complete trisomy 21 syndrome
Grisk factor
GATA1
(S12*)
Single nucleotide variant
(nonsense)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+6 more
GPathogenic/Likely pathogenic
GATA1
(K315R)
Single nucleotide variant
(missense variant)
Complete trisomy 21 syndrome
+5 more
GUncertain significance
COL11A2
(R1150C +2 more)
Single nucleotide variant
(missense variant)
Fibrochondrogenesis 2
+4 more
GConflicting classifications of pathogenicity
ALMS1
(V2748G +1 more)
Single nucleotide variant
(missense variant)
Alstrom syndrome
+3 more
GUncertain significance
GATA1
(V32I)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia
+6 more
GConflicting classifications of pathogenicity
GATA1
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign/Likely benign
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