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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LSM1
Single nucleotide variant
(intron variant)
Complex neurodevelopmental disorder
+19 more
GUncertain significance
INF2
(S1083G)
Single nucleotide variant
(missense variant)
Birth length less than 3rd percentile
+7 more
GUncertain significance
CC2D2A
Single nucleotide variant
(splice donor variant)
Microcephaly
+8 more
GPathogenic/Likely pathogenic
PKHD1
Single nucleotide variant
(intron variant)
Oligohydramnios
+2 more
GUncertain significance
OPHN1
(L249P)
Single nucleotide variant
(missense variant)
Congenital cerebellar hypoplasia
+5 more
GLikely pathogenic
Translocation
Psychotic disorder
+29 more
GPathogenic
TMEM67
(R360C +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+23 more
GPathogenic/Likely pathogenic
CC2D2A
Deletion
(splice donor variant)
Joubert syndrome 9
+17 more
GPathogenic
PKHD1
(T36M)
Single nucleotide variant
(missense variant)
Polycystic kidney disease
+7 more
GPathogenic/Likely pathogenic
TMEM67
(C615R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Joubert syndrome 6
+27 more
GPathogenic/Likely pathogenic
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