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Items: 1 to 100 of 297

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPSF7, CYB561A3
+23 more
Copy number gain
See cases
GUncertain significance
TMEM216
Single nucleotide variant
not provided
GLikely benign
TMEM216
Single nucleotide variant
not provided
GBenign
TMEM216
Single nucleotide variant
Joubert syndrome 2
+1 more
GUncertain significance
TMEM216
Single nucleotide variant
Joubert syndrome 2
+1 more
GUncertain significance
TMEM216
Single nucleotide variant
Meckel syndrome, type 2
+1 more
GUncertain significance
TMEM216
Single nucleotide variant
Meckel syndrome, type 2
+1 more
GConflicting classifications of pathogenicity
TMEM216
Single nucleotide variant
Meckel syndrome, type 2
+1 more
GUncertain significance
TMEM216
Single nucleotide variant
Meckel syndrome, type 2
+1 more
GConflicting classifications of pathogenicity
TMEM216
Single nucleotide variant
Joubert syndrome 2
+2 more
GConflicting classifications of pathogenicity
TMEM216
Single nucleotide variant
(5 prime UTR variant)
TMEM216-related disorder
GLikely benign
TMEM216
Deletion
(inframe_deletion +2 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
TMEM216
Single nucleotide variant
(5 prime UTR variant)
Joubert syndrome 2
+3 more
GConflicting classifications of pathogenicity
TMEM216
Single nucleotide variant
(5 prime UTR variant)
Meckel syndrome, type 2
+2 more
GBenign/Likely benign
TMEM216
(M1fs)
Deletion
(frameshift variant +2 more)
Meckel syndrome, type 2
+1 more
GUncertain significance
TMEM216
Single nucleotide variant
(5 prime UTR variant)
TMEM216-related disorder
GLikely benign
TMEM216
Single nucleotide variant
(5 prime UTR variant)
Meckel syndrome, type 2
+4 more
GBenign
TMEM216
(M1V)
Single nucleotide variant
(missense variant +2 more)
Meckel syndrome, type 2
+1 more
GUncertain significance
TMEM216
(M1T)
Single nucleotide variant
(missense variant +2 more)
Meckel syndrome, type 2
+1 more
GUncertain significance
TMEM216
(M1K)
Single nucleotide variant
(missense variant +2 more)
Familial aplasia of the vermis
+2 more
GUncertain significance
TMEM216
(L2V)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
GUncertain significance
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)
not provided
+4 more
GConflicting classifications of pathogenicity
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
(P3T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TMEM216
(R4Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
TMEM216
(G5V)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
GUncertain significance
TMEM216
(L6V)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
GUncertain significance
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
(M8V)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
GUncertain significance
TMEM216
(A9V)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TMEM216
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 2
GLikely pathogenic
TMEM216
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 2
+2 more
GLikely pathogenic
TMEM216
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
Microsatellite
(splice donor variant +1 more)
Joubert syndrome 2
+3 more
GConflicting classifications of pathogenicity
TMEM216
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(intron variant)
Meckel syndrome, type 2
+4 more
GBenign/Likely benign
TMEM216
Deletion
(splice acceptor variant)
not provided
+2 more
GLikely pathogenic
TMEM216
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
GUncertain significance
TMEM216
Duplication
(intron variant)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
GLikely benign
TMEM216
Indel
(intron variant)
Familial aplasia of the vermis
GUncertain significance
TMEM216
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
GLikely benign
TMEM216
Deletion
(intron variant)
Familial aplasia of the vermis
GUncertain significance
TMEM216
Insertion
(splice acceptor variant)
Familial aplasia of the vermis
GLikely pathogenic
TMEM216
Single nucleotide variant
(splice acceptor variant)
Familial aplasia of the vermis
+2 more
GLikely pathogenic
TMEM216
Single nucleotide variant
(splice acceptor variant)
Familial aplasia of the vermis
GLikely pathogenic
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
(R14G)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
GUncertain significance
TMEM216
(R14W)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
GUncertain significance
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
Meckel syndrome, type 2
+4 more
GConflicting classifications of pathogenicity
TMEM216
Insertion
(nonsense +2 more)
Familial aplasia of the vermis
GPathogenic
TMEM216
(L23fs)
Deletion
(frameshift variant +1 more)
Familial aplasia of the vermis
+1 more
GPathogenic/Likely pathogenic
TMEM216
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
Deletion
(frameshift variant +1 more)
Familial aplasia of the vermis
GPathogenic
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
(L26Q)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
GUncertain significance
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
(W29*)
Single nucleotide variant
(nonsense +1 more)
Joubert syndrome 2
GLikely pathogenic
TMEM216
(W29*)
Single nucleotide variant
(nonsense +1 more)
Familial aplasia of the vermis
GPathogenic
TMEM216
(N31D)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+1 more
GUncertain significance
TMEM216
(Y34C)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
GUncertain significance
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
(E38*)
Single nucleotide variant
(nonsense +1 more)
Joubert syndrome 2
GLikely pathogenic
TMEM216
(E38G)
Single nucleotide variant
(missense variant +1 more)
TMEM216-related disorder
+2 more
GUncertain significance
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
(F40fs)
Deletion
(frameshift variant +1 more)
Familial aplasia of the vermis
GPathogenic
TMEM216
(I41V)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
GUncertain significance
TMEM216
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
+2 more
GConflicting classifications of pathogenicity
TMEM216
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(splice donor variant)
Familial aplasia of the vermis
GLikely pathogenic
TMEM216
Microsatellite
(intron variant)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
GLikely benign
TMEM216
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
GLikely benign
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