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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM67
(R208* +1 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 14
+11 more
GPathogenic
TMEM67
Single nucleotide variant
(splice donor variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TMEM67
(G137A +1 more)
Single nucleotide variant
(missense variant +1 more)
COACH syndrome 1
+9 more
GUncertain significance
TMEM67
(R711G +1 more)
Single nucleotide variant
(missense variant +1 more)
Meckel-Gruber syndrome
+7 more
GConflicting classifications of pathogenicity
TMEM67
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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