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Links from MedGen

Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATF6
Single nucleotide variant
(synonymous variant)
Achromatopsia 7
+1 more
GBenign
ATF6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ATF6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ATF6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ATF6
(A226E)
Single nucleotide variant
(missense variant)
Achromatopsia 7
GUncertain significance
ATF6
(K285R)
Single nucleotide variant
(missense variant)
Achromatopsia 7
GLikely pathogenic
ATF6
(M1I)
Single nucleotide variant
(missense variant +1 more)
Achromatopsia 7
GPathogenic
ATF6
(R317Q)
Single nucleotide variant
(missense variant)
Achromatopsia 7
GLikely pathogenic
ATF6
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ATF6
(M397I)
Single nucleotide variant
(missense variant)
Achromatopsia 7
GLikely benign
ATF6
(M397fs)
Insertion
(frameshift variant)
Achromatopsia 7
GUncertain significance
ATF6
(Q237*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
ATF6
(M67V)
Single nucleotide variant
(missense variant)
Achromatopsia 7
+1 more
GBenign
ATF6
(I171fs)
Deletion
(frameshift variant)
Achromatopsia 7
GLikely pathogenic
ATF6
(L595fs)
Deletion
(frameshift variant)
Achromatopsia 7
GLikely pathogenic
ATF6
Duplication
Achromatopsia 7
GPathogenic
ATF6
(V371fs)
Duplication
(frameshift variant)
Achromatopsia 7
GPathogenic
ATF6
Duplication
(frameshift variant)
Achromatopsia 7
GPathogenic
ATF6
Single nucleotide variant
(splice donor variant)
Achromatopsia 7
+1 more
GPathogenic
ATF6
Single nucleotide variant
(intron variant)
Achromatopsia 7
GPathogenic
ATF6
(P118fs)
Deletion
(frameshift variant)
Achromatopsia 7
GPathogenic
ATF6
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic
ATF6
(Y567N)
Single nucleotide variant
(missense variant)
Achromatopsia 7
GPathogenic
ATF6
(R324C)
Single nucleotide variant
(missense variant)
ATF6-related condition
+2 more
GPathogenic
ATF6
Duplication
Achromatopsia 7
GPathogenic
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