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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM237
(R18* +1 more)
Single nucleotide variant
(nonsense)
Joubert syndrome and related disorders
+1 more
GPathogenic
TMEM67
(M252T +1 more)
Single nucleotide variant
(missense variant +1 more)
Meckel syndrome, type 3
+8 more
GPathogenic
TMEM67
(S320C +1 more)
Single nucleotide variant
(missense variant +1 more)
TMEM67-related condition
+9 more
GConflicting classifications of pathogenicity
TMEM67
(C615R +1 more)
Single nucleotide variant
(missense variant +1 more)
TMEM67-Related Disorders
+27 more
GPathogenic/Likely pathogenic
TMEM67
Single nucleotide variant
(synonymous variant +1 more)
Kidney disorder
+7 more
GConflicting classifications of pathogenicity
TMEM216
(R73L +1 more)
Single nucleotide variant
(missense variant)
TMEM216-Related Disorders
+6 more
GPathogenic
CEP290
Single nucleotide variant
(intron variant)
CEP290-related condition
+13 more
GPathogenic/Likely pathogenic
KIAA0586
(R131fs +3 more)
Deletion
(frameshift variant)
KIAA0586-related condition
+6 more
GPathogenic/Likely pathogenic
RPGRIP1L
(A229T)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+6 more
GBenign
MKS1
(S372del +1 more)
Deletion
(inframe_deletion)
Bardet-Biedl syndrome 13
+9 more
GPathogenic/Likely pathogenic
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