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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARL8B, ARPC4
+281 more
Copy number loss
See cases
GPathogenic
LOC110120630, LOC111429626
+608 more
Copy number gain
See cases
GPathogenic
GHRL, GHRLOS
Single nucleotide variant
(intron variant)
not provided
GBenign
GHRL, GHRLOS
(Q90L +4 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
GHRL, GHRLOS
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
GHRL, GHRLOS
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
GHRL, GHRLOS
(L72M +3 more)
Single nucleotide variant
(missense variant +1 more)
Obesity
+1 more
GBenign/Likely benign
GHRL, GHRLOS
Single nucleotide variant
(intron variant)
not provided
GBenign
ARPC4, ARPC4-TTLL3
+39 more
Copy number loss
See cases
GPathogenic
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