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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COQ6, ENTPD5
(R162* +4 more)
Single nucleotide variant
(nonsense +2 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
GPathogenic
COQ6, ENTPD5
(W163* +4 more)
Single nucleotide variant
(nonsense +2 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
GPathogenic
COQ6, ENTPD5
(G230R +6 more)
Single nucleotide variant
(missense variant +2 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
GPathogenic
COQ6, ENTPD5
(A353D +8 more)
Single nucleotide variant
(missense variant +2 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
GPathogenic
COQ6, ENTPD5
(Y387C +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COQ6, ENTPD5
(W422* +8 more)
Single nucleotide variant
(nonsense +1 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
GPathogenic
COQ6, ENTPD5
(I437fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
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