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Items: 1 to 100 of 446

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ALDH9A1
+371 more
Copy number loss
See cases
GPathogenic
ADCY10, ALDH9A1
+406 more
Copy number loss
See cases
GPathogenic
ATF6
(M1I)
Single nucleotide variant
(missense variant +1 more)
Achromatopsia 7
GPathogenic
ATF6
(G2R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
(E3*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ATF6
(A5T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATF6
(G6A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
(G6V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ATF6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATF6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATF6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATF6
(M11I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
(P14S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
(S16*)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
ATF6
(P14L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
(P14H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
(S16I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
ATF6
(F20S)
Single nucleotide variant
(missense variant)
not provided
GBenign
ATF6
(H21Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATF6
(H21R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATF6
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ATF6
(D26G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
ATF6
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ATF6
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic
ATF6
Single nucleotide variant
(intron variant)
not provided
GBenign
ATF6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATF6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATF6
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
ATF6
(A30T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATF6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ATF6
(G36S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATF6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATF6
(L46S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATF6
(N50S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
(T52M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATF6
(Y53C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
Deletion
(intron variant)
not provided
GUncertain significance
ATF6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATF6
Single nucleotide variant
(intron variant)
not provided
GBenign
ATF6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATF6
Indel
(intron variant)
not provided
GLikely benign
ATF6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATF6
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ATF6
Duplication
Achromatopsia
GPathogenic
ATF6
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
ATF6
(M67L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
(M67V)
Single nucleotide variant
(missense variant)
Achromatopsia 7
+1 more
GBenign
ATF6
(W69*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ATF6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATF6
(W74*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ATF6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATF6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATF6
(T82I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ATF6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATF6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATF6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATF6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATF6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATF6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATF6
Single nucleotide variant
(intron variant)
ATF6-related disorder
+1 more
GLikely benign
ATF6
(I86T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
(P90H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ATF6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATF6
(S94C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
(S97P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATF6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATF6
(S103L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ATF6
(R106W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
(R106P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATF6
(D109G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATF6
(H116R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATF6
(P118fs)
Deletion
(frameshift variant)
Achromatopsia 7
GPathogenic
ATF6
Deletion
(intron variant)
not provided
GLikely benign
ATF6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATF6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATF6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATF6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATF6
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ATF6
Duplication
Achromatopsia 7
GPathogenic
ATF6
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
ATF6
(D122N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
(D122Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
(L123V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATF6
(S126G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ATF6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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