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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM216
Deletion
(inframe_deletion +2 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
TMEM216
Single nucleotide variant
(5 prime UTR variant)
Meckel syndrome, type 2
+4 more
GBenign
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
+1 more
GConflicting classifications of pathogenicity
TMEM216
(L2P)
Single nucleotide variant
(missense variant +1 more)
TMEM216-related condition
+4 more
GConflicting classifications of pathogenicity
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
+4 more
GConflicting classifications of pathogenicity
TMEM216
(E38G)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
+2 more
GConflicting classifications of pathogenicity
TMEM216
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TMEM216
(V47A)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 2
+3 more
GUncertain significance
TMEM216
(V10L +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TMEM216
(R12C +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TMEM216
(R73L +1 more)
Single nucleotide variant
(missense variant)
TMEM216-related condition
+6 more
GPathogenic
TMEM216
Single nucleotide variant
(synonymous variant)
Joubert syndrome 2
+4 more
GBenign/Likely benign
TMEM216
(V32M +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+1 more
GUncertain significance
TMEM216
(F36I +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TMEM216
(R115G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMEM216
(R115C +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+1 more
GUncertain significance
TMEM216
(R115H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
TMEM216
(M120V +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 2
+4 more
GConflicting classifications of pathogenicity
TMEM216
(V136M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TMEM216
Single nucleotide variant
(synonymous variant)
Meckel syndrome, type 2
+3 more
GConflicting classifications of pathogenicity
TMEM216
Insertion
(splice acceptor variant +1 more)
not provided
+4 more
GBenign
TMEM216
(R147T +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 2
+5 more
GBenign
TMEM216
(R144S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMEM216
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
TMEM216
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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