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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COX7B
(R29H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COX7B
(T73A)
Single nucleotide variant
(missense variant)
Linear skin defects with multiple congenital anomalies 2
GUncertain significance
COX7B
(Q19*)
Single nucleotide variant
(nonsense)
Linear skin defects with multiple congenital anomalies 2
GPathogenic
COX7B
Single nucleotide variant
(splice acceptor variant)
Linear skin defects with multiple congenital anomalies 2
GPathogenic
COX7B
(L66fs)
Deletion
(frameshift variant)
Linear skin defects with multiple congenital anomalies 2
GPathogenic
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