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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AATBC, ABCG1
+1159 more
Copy number gain
See cases
GPathogenic
CHAF1B, CLDN14
+99 more
Copy number gain
See cases
GPathogenic
DSCR10, DSCR4
+31 more
Copy number loss
See cases
GPathogenic
KCNJ6, KCNJ6-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
KCNJ6, KCNJ6-AS1
(A377K)
Indel
(missense variant)
not provided
GUncertain significance
KCNJ6-AS1, KCNJ6
(E369K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNJ6, KCNJ6-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
KCNJ6, KCNJ6-AS1
(Y325*)
Duplication
(nonsense)
not provided
GUncertain significance
KCNJ6, KCNJ6-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNJ6, KCNJ6-AS1
(E234fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
KCNJ6, KCNJ6-AS1
(Q195P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
KCNJ6, KCNJ6-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
KCNJ6, KCNJ6-AS1
(C164F)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
KCNJ6, KCNJ6-AS1
(T152I)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
KCNJ6, KCNJ6-AS1
(G119V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KCNJ6, KCNJ6-AS1
(G119*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
KCNJ6-AS1, KCNJ6
(Y116F)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
KCNJ6, KCNJ6-AS1
(Y116C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
KCNJ6, KCNJ6-AS1
(T101fs)
Microsatellite
(non-coding transcript variant +1 more)
not provided
GUncertain significance
KCNJ6, KCNJ6-AS1
Duplication
(non-coding transcript variant +1 more)
not provided
GUncertain significance
KCNJ6, KCNJ6-AS1
(G61*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
KCNJ6, KCNJ6-AS1
(D47N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNJ6, KCNJ6-AS1
(A26S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNJ6, KCNJ6-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNJ6, KCNJ6-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KCNJ6
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNJ6
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNJ6
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNJ6
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCG1, ADAMTS1
+216 more
Copy number loss
See cases
GPathogenic
ABCG1, ADAMTS1
+216 more
Copy number gain
See cases
GPathogenic
KCNJ6
(T397P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNJ6
(R158W)
Single nucleotide variant
not provided
GUncertain significance
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