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Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM10, ALDH1A2
+287 more
Copy number loss
See cases
GPathogenic
RFX7
(S1353G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RFX7
(Q1363H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RFX7
(P1217fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
RFX7
(P1192L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RFX7
(T1187I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RFX7
(K1159E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RFX7
(V1096* +1 more)
Insertion
(nonsense)
not provided
GUncertain significance
RFX7
Single nucleotide variant
(no sequence alteration)
not provided
GBenign
RFX7
(P1028L +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
RFX7
(P1028S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
RFX7
(S879* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
RFX7
(S877N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RFX7
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RFX7
(N811K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RFX7
(V795M +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
RFX7
(L726* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
RFX7
(V723fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
RFX7
(D718A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RFX7
(V707L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RFX7
(K557E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RFX7
(R428T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RFX7
(V419F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RFX7
(S395Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RFX7
(H394D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RFX7
(L392V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RFX7
(P385S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RFX7
(Q258* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
RFX7
(F150L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RFX7
(L137* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
RFX7
(Q134R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RFX7
(E131K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RFX7
Single nucleotide variant
(intron variant)
not provided
GBenign
RFX7
(S101fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
RFX7
Single nucleotide variant
(intron variant)
not provided
GBenign
RFX7
(D62V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
RFX7
(G27W)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
RFX7
(Q18E)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
RFX7
(K171E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RFX7
(E881G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RFX7
(G1003S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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