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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNB
(S122A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130065793, RAB5IF
+1 more
(W25*)
Single nucleotide variant
(nonsense +2 more)
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
+11 more
GPathogenic/Likely pathogenic
GABRG3
Copy number gain
Penile hypospadias
+4 more
GUncertain significance
TBXAS1
Copy number gain
Penile hypospadias
+4 more
GUncertain significance
BCR, GGTLC2
+5 more
Copy number loss
Abnormality of the vertebral column
+2 more
GPathogenic
WFS1
(Q667*)
Single nucleotide variant
(nonsense)
not provided
+20 more
GPathogenic/Likely pathogenic
KIF1A
(H917Y +7 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 2C
+22 more
GUncertain significance
CHN1
(A223T +3 more)
Single nucleotide variant
(missense variant +1 more)
See cases
+19 more
GLikely pathogenic
COL6A3
(A2787T +2 more)
Single nucleotide variant
(missense variant)
Sensory ataxia
+8 more
GConflicting classifications of pathogenicity
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