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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC105371520, TMEM107
(T60I +1 more)
Single nucleotide variant
(missense variant +1 more)
Orofaciodigital syndrome 16
GUncertain significance
LOC105371520, TMEM107
Single nucleotide variant
(intron variant)
Meckel syndrome 13
+1 more
GBenign
LOC105371520, TMEM107
Single nucleotide variant
(intron variant)
Orofaciodigital syndrome 16
+2 more
GBenign
LOC105371520, TMEM107
(E45G)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
LOC105371520, TMEM107
(F106del +1 more)
Microsatellite
(inframe_deletion +1 more)
Orofaciodigital syndrome
GPathogenic
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