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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FAM161A
(E652K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
FAM161A
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 28
+2 more
GConflicting classifications of pathogenicity
FAM161A
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
FAM161A
(R523*)
Single nucleotide variant
(nonsense +1 more)
Retinal dystrophy
+3 more
GPathogenic
FAM161A
(C501fs)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa 28
+2 more
GPathogenic/Likely pathogenic
FAM161A
(E481K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FAM161A
(T452fs)
Deletion
(frameshift variant +1 more)
Retinal dystrophy
+2 more
GPathogenic
FAM161A
(R437*)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic
FAM161A
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 28
+4 more
GBenign
FAM161A
(Q385E)
Single nucleotide variant
(missense variant +1 more)
FAM161A-related condition
+2 more
GConflicting classifications of pathogenicity
FAM161A
(L378R)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 28
+4 more
GConflicting classifications of pathogenicity
FAM161A
(R335*)
Single nucleotide variant
(nonsense +1 more)
Retinitis pigmentosa 28
+1 more
GPathogenic
FAM161A
(E263K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FAM161A
(S168C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FAM161A
(Q118H)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa
+1 more
GConflicting classifications of pathogenicity
FAM161A
(T66I)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 28
+3 more
GConflicting classifications of pathogenicity
FAM161A, LOC129933843
(G59E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FAM161A, LOC129933843
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 28
+3 more
GBenign
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