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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PITPNM3
(S856L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PITPNM3
Single nucleotide variant
(intron variant)
Retinal dystrophy
GUncertain significance
PITPNM3
(R825H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PITPNM3
(R682L +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PITPNM3
(Q626H +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PITPNM3
(P425A +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
PITPNM3
(C314G +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
PITPNM3
(R281H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PITPNM3
(S27A)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
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