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Links from MedGen

Items: 1 to 100 of 197

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM67
(R138I +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 6
GUncertain significance
TMEM67
(R172L +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 6
+2 more
GConflicting classifications of pathogenicity
TMEM67
(G260R +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 6
GUncertain significance
TMEM67
(G545E +1 more)
Single nucleotide variant
(missense variant +2 more)
Joubert syndrome 6
GPathogenic
TMEM67
Single nucleotide variant
(splice acceptor variant)
Joubert syndrome 6
GPathogenic
TMEM67
Deletion
Joubert syndrome 6
GLikely pathogenic
TMEM67
(K510E +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 6
GLikely pathogenic
TMEM67
(R637fs +1 more)
Deletion
(frameshift variant +1 more)
Joubert syndrome 6
GPathogenic
TMEM67
(F838Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 6
GUncertain significance
TMEM67
(P333R +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 6
GUncertain significance
TMEM67
(F160fs +1 more)
Deletion
(frameshift variant +1 more)
Meckel syndrome, type 3
+5 more
GPathogenic/Likely pathogenic
TMEM67
(I115M)
Single nucleotide variant
(5 prime UTR variant +2 more)
Joubert syndrome 6
GUncertain significance
TMEM67
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
+7 more
GLikely benign
TMEM67
Single nucleotide variant
(synonymous variant +1 more)
Familial aplasia of the vermis
+7 more
GLikely benign
TMEM67
Single nucleotide variant
(intron variant)
Meckel syndrome, type 3
+7 more
GLikely benign
TMEM67
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 14
+7 more
GLikely benign
TMEM67
Single nucleotide variant
(intron variant)
COACH syndrome 1
+9 more
GLikely benign
TMEM67
Single nucleotide variant
(intron variant)
Meckel-Gruber syndrome
+7 more
GLikely benign
TMEM67
Single nucleotide variant
(intron variant)
RHYNS syndrome
+7 more
GLikely benign
TMEM67
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 14
+7 more
GLikely benign
TMEM67
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
+7 more
GLikely benign
TMEM67
Duplication
(intron variant)
COACH syndrome 1
+7 more
GLikely benign
TMEM67
Single nucleotide variant
(intron variant)
Meckel-Gruber syndrome
+7 more
GLikely benign
TMEM67
Single nucleotide variant
(intron variant)
COACH syndrome 1
+7 more
GLikely benign
TMEM67
(C736Y +1 more)
Single nucleotide variant
(missense variant +1 more)
COACH syndrome 1
+7 more
GUncertain significance
TMEM67
(M914V +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 11
+7 more
GUncertain significance
TMEM67
(V228G +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+7 more
GUncertain significance
TMEM67
(D50E)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis 11
+7 more
GUncertain significance
TMEM67
(I95V)
Single nucleotide variant
(missense variant +2 more)
Meckel syndrome, type 3
+7 more
GUncertain significance
TMEM67
(A160G +1 more)
Single nucleotide variant
(missense variant +1 more)
Meckel-Gruber syndrome
+8 more
GUncertain significance
TMEM67
(R894C +1 more)
Single nucleotide variant
(missense variant +1 more)
Meckel-Gruber syndrome
+7 more
GUncertain significance
TMEM67
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
+7 more
GConflicting classifications of pathogenicity
TMEM67
(N797K +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+8 more
GUncertain significance
TMEM67
(E109G)
Single nucleotide variant
(5 prime UTR variant +2 more)
Meckel-Gruber syndrome
+7 more
GUncertain significance
TMEM67
(L698V +1 more)
Single nucleotide variant
(missense variant +1 more)
RHYNS syndrome
+7 more
GUncertain significance
TMEM67
(Y133C +1 more)
Single nucleotide variant
(missense variant +1 more)
Meckel-Gruber syndrome
+7 more
GUncertain significance
TMEM67
(S985F +1 more)
Single nucleotide variant
(missense variant +1 more)
RHYNS syndrome
+8 more
GUncertain significance
TMEM67
(P640R +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+7 more
GUncertain significance
TMEM67
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
+7 more
GConflicting classifications of pathogenicity
TMEM67
(L30F)
Single nucleotide variant
(missense variant +2 more)
COACH syndrome 1
+9 more
GUncertain significance
TMEM67
(I694V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+9 more
GUncertain significance
TMEM67
(F25L)
Single nucleotide variant
(missense variant +2 more)
COACH syndrome 1
+7 more
GUncertain significance
TMEM67
(K250Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+7 more
GUncertain significance
TMEM67
(T3M)
Single nucleotide variant
(missense variant +2 more)
Meckel syndrome, type 3
+7 more
GUncertain significance
TMEM67
Single nucleotide variant
(intron variant)
Joubert syndrome 6
+7 more
GUncertain significance
TMEM67
(Q231R +1 more)
Single nucleotide variant
(missense variant +1 more)
COACH syndrome 1
+7 more
GUncertain significance
TMEM67
(R527H +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 6
+8 more
GUncertain significance
TMEM67
(P392R +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+7 more
GConflicting classifications of pathogenicity
TMEM67
(R643Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 6
+7 more
GUncertain significance
TMEM67
(R711G +1 more)
Single nucleotide variant
(missense variant +1 more)
Meckel syndrome, type 3
+7 more
GConflicting classifications of pathogenicity
TMEM67
Single nucleotide variant
(synonymous variant +1 more)
Meckel-Gruber syndrome
+7 more
GLikely benign
TMEM67
(R578* +1 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 14
+9 more
GPathogenic/Likely pathogenic
TMEM67
(S77*)
Single nucleotide variant
(nonsense +2 more)
Joubert syndrome 6
GPathogenic
TMEM67
(M11V)
Single nucleotide variant
(missense variant +2 more)
Meckel syndrome, type 3
+8 more
GUncertain significance
TMEM67
(P46Q)
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial aplasia of the vermis
+7 more
GUncertain significance
TMEM67
(A227P +1 more)
Single nucleotide variant
(missense variant +1 more)
Meckel-Gruber syndrome
+7 more
GUncertain significance
TMEM67
(A732V +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+7 more
GUncertain significance
TMEM67
(D418Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+8 more
GUncertain significance
TMEM67
(S159P +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+1 more
GPathogenic
TMEM67
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TMEM67
(S15T)
Single nucleotide variant
(missense variant +2 more)
COACH syndrome 1
+8 more
GConflicting classifications of pathogenicity
TMEM67
(R10T +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 6
GLikely pathogenic
TMEM67
Single nucleotide variant
(3 prime UTR variant +1 more)
Meckel syndrome, type 3
+2 more
GUncertain significance
TMEM67
Single nucleotide variant
(3 prime UTR variant)
Joubert syndrome 6
+2 more
GUncertain significance
TMEM67
Single nucleotide variant
(3 prime UTR variant)
Joubert syndrome 6
+2 more
GUncertain significance
TMEM67
Single nucleotide variant
(3 prime UTR variant)
Joubert syndrome 6
+2 more
GUncertain significance
TMEM67
Single nucleotide variant
(genic downstream transcript variant)
Meckel syndrome, type 3
+2 more
GUncertain significance
TMEM67
Single nucleotide variant
(3 prime UTR variant)
Joubert syndrome 6
+2 more
GUncertain significance
TMEM67
Single nucleotide variant
(3 prime UTR variant)
Meckel syndrome, type 3
+2 more
GUncertain significance
TMEM67
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 11
+2 more
GUncertain significance
TMEM67
Single nucleotide variant
(intron variant)
Joubert syndrome 6
+4 more
GConflicting classifications of pathogenicity
TMEM67
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 11
+2 more
GUncertain significance
TMEM67
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 11
+2 more
GUncertain significance
TMEM67
(E679Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 6
+2 more
GUncertain significance
TMEM67
Single nucleotide variant
(intron variant)
Meckel syndrome, type 3
+2 more
GUncertain significance
TMEM67
(V449I +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 6
+7 more
GUncertain significance
TMEM67
(T99I +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 6
+2 more
GUncertain significance
TMEM67
Single nucleotide variant
(intron variant)
Meckel-Gruber syndrome
+4 more
GConflicting classifications of pathogenicity
TMEM67
Single nucleotide variant
(synonymous variant +2 more)
Joubert syndrome 6
+2 more
GUncertain significance
TMEM67
(R578Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+5 more
GUncertain significance
TMEM67
(N90S)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis 11
+4 more
GUncertain significance
TMEM67
(R764Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Meckel syndrome, type 3
+2 more
GUncertain significance
TMEM67
(K513R +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 11
+4 more
GUncertain significance
TMEM67
(F29L)
Single nucleotide variant
(intron variant +2 more)
RHYNS syndrome
+7 more
GUncertain significance
TMEM67
(A627T +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+7 more
GConflicting classifications of pathogenicity
TMEM67
(S129P +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 6
GUncertain significance
TMEM67
Single nucleotide variant
(5 prime UTR variant +2 more)
Meckel-Gruber syndrome
+7 more
GLikely benign
TMEM67
Single nucleotide variant
(intron variant)
TMEM67-related disorder
+8 more
GBenign/Likely benign
TMEM67
Single nucleotide variant
(intron variant)
Joubert syndrome 6
GLikely pathogenic
TMEM67
Single nucleotide variant
(intron variant)
COACH syndrome 1
+8 more
GBenign/Likely benign
TMEM67
(I665T +1 more)
Single nucleotide variant
(missense variant +1 more)
COACH syndrome 1
+7 more
GUncertain significance
TMEM67
(R379T +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+9 more
GUncertain significance
TMEM67
(G452E +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 6
GUncertain significance
TMEM67
(A491T +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 6
+4 more
GConflicting classifications of pathogenicity
TMEM67
(R172* +1 more)
Single nucleotide variant
(nonsense +1 more)
Familial aplasia of the vermis
+11 more
GPathogenic/Likely pathogenic
TMEM67
(E723* +1 more)
Single nucleotide variant
(nonsense +1 more)
Joubert syndrome 6
+6 more
GPathogenic
TMEM67
(T589I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 more
GUncertain significance
TMEM67
(F846L +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 6
GUncertain significance
TMEM67
(L393P +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 6
GUncertain significance
TMEM67
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
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