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Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM67
(V9M)
Single nucleotide variant
(missense variant +2 more)
Joubert syndrome 6
+11 more
GConflicting classifications of pathogenicity
TMEM67
(L17*)
Single nucleotide variant
(nonsense +2 more)
Familial aplasia of the vermis
+2 more
GPathogenic/Likely pathogenic
TMEM67
(A36V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial aplasia of the vermis
+2 more
GConflicting classifications of pathogenicity
TMEM67
Single nucleotide variant
(5 prime UTR variant +2 more)
Familial aplasia of the vermis
+6 more
GConflicting classifications of pathogenicity
TMEM67
Deletion
(intron variant)
not specified
GBenign
TMEM67
(T76A)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
TMEM67
(S116F)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
TMEM67
Single nucleotide variant
(5 prime UTR variant +2 more)
Meckel-Gruber syndrome
+5 more
GConflicting classifications of pathogenicity
TMEM67
(E124K)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
TMEM67
(R208* +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Joubert syndrome 6
+11 more
GPathogenic
TMEM67
(D180N +1 more)
Single nucleotide variant
(missense variant +1 more)
Meckel syndrome, type 3
+9 more
GBenign/Likely benign
TMEM67
(S288* +1 more)
Single nucleotide variant
(nonsense +1 more)
RHYNS syndrome
+8 more
GPathogenic/Likely pathogenic
TMEM67
(S320C +1 more)
Single nucleotide variant
(missense variant +1 more)
RHYNS syndrome
+9 more
GConflicting classifications of pathogenicity
TMEM67
Single nucleotide variant
(intron variant)
Meckel-Gruber syndrome
+7 more
GBenign
TMEM67
(T279A +1 more)
Single nucleotide variant
(missense variant +1 more)
TMEM67-related condition
+5 more
GConflicting classifications of pathogenicity
TMEM67
(Y567C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
TMEM67
(T589I +1 more)
Single nucleotide variant
(missense variant +1 more)
Meckel-Gruber syndrome
+8 more
GUncertain significance
TMEM67
(D630A +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+3 more
GConflicting classifications of pathogenicity
TMEM67
(P640S +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+6 more
GConflicting classifications of pathogenicity
TMEM67
Single nucleotide variant
(synonymous variant +1 more)
Kidney disorder
+7 more
GConflicting classifications of pathogenicity
TMEM67
Duplication
(splice donor variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TMEM67
(G705E +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+2 more
GConflicting classifications of pathogenicity
TMEM67
(E723* +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
COACH syndrome 1
+6 more
GPathogenic
TMEM67
Deletion
(intron variant)
Meckel-Gruber syndrome
+3 more
GConflicting classifications of pathogenicity
TMEM67
Single nucleotide variant
(synonymous variant +1 more)
Meckel-Gruber syndrome
+6 more
GBenign
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