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Links from Gene

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DPH5, LOC126805809
(A33S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DPH5, SLC30A7
(P273T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DPH5, SLC30A7
(D229N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DPH5, SLC30A7
(K180N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DPH5, LOC126805809
(D14N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DPH5, SLC30A7
(G257S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DPH5, SLC30A7
(M265T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DPH5, SLC30A7
(M263R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DPH5, SLC30A7
(T236P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DPH5, SLC30A7
(D229A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DPH5, SLC30A7
Single nucleotide variant
(nonsense)
DPH5-related diphthamide-deficiency syndrome
+1 more
GPathogenic
DPH5, SLC30A7
(H260R +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
GPathogenic/Likely pathogenic
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