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Items: 1 to 100 of 455

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
ABHD16B, ACOT8
+1024 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADNP
+635 more
Copy number gain
20q13.13qter duplication
GPathogenic
LOC130066385, LOC130066386
+553 more
Copy number gain
See cases
GLikely pathogenic
LOC130066289, LOC130066290
+491 more
Copy number gain
See cases
GPathogenic
LOC130066383, LOC130066384
+464 more
Copy number gain
See cases
GPathogenic
LOC130066362, LOC130066363
+355 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADRM1
+312 more
Copy number gain
See cases
GPathogenic
LOC130066313, LOC130066314
+183 more
Copy number loss
See cases
GPathogenic
ABHD16B, ARFGAP1
+249 more
Copy number loss
See cases
GPathogenic
ABHD16B, ARFGAP1
+248 more
Copy number loss
See cases
GPathogenic
LOC130066412, LOC130066413
+244 more
Copy number loss
See cases
GPathogenic
ARFGAP1, ARFRP1
+165 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
ABHD16B, ARFGAP1
+230 more
Copy number loss
See cases
GPathogenic
RGS19, RTEL1
+181 more
Copy number loss
See cases
GPathogenic
ABHD16B, ARFGAP1
+177 more
Copy number gain
See cases
GPathogenic
ABHD16B, ARFGAP1
+177 more
Copy number loss
See cases
GLikely pathogenic
ABHD16B, ARFRP1
+156 more
Copy number gain
See cases
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(A3S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(A3V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
(E5K)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(G6R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
(P7T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(L9V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
TNFRSF6B, RTEL1-TNFRSF6B
(S10L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
(L11R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
(L12V)
Single nucleotide variant
(non-coding transcript variant +1 more)
TNFRSF6B-related disorder
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
(A17V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
(P19S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(P19L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
(L21P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(L22P)
Single nucleotide variant
(non-coding transcript variant +1 more)
TNFRSF6B-related disorder
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
Microsatellite
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(P23L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
(V24M)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(P25L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
RTEL1-TNFRSF6B, TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
(R28C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
(R28H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(G29R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
RTEL1-TNFRSF6B, TNFRSF6B
(V30A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(P34L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
TNFRSF6B, RTEL1-TNFRSF6B
(R39W)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(R39Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
(A41T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
RTEL1-TNFRSF6B, TNFRSF6B
(A41S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(E42D)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
(E45fs)
Deletion
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(G44R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(G44A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
(R46W)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
TNFRSF6B, RTEL1-TNFRSF6B
(R46L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(V48M)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
RTEL1-TNFRSF6B, TNFRSF6B
(A50T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(G55fs)
Duplication
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(C52Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(P54S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
(T56I)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
+1 more
(F57fs)
Deletion
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
+1 more
GUncertain significance
RTEL1, RTEL1-TNFRSF6B
+1 more
(Q59*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dyskeratosis congenita, autosomal recessive 5
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(R60W)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(R60Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
(P61S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(P61L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(C62fs)
Duplication
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
(C62Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(R63C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(R63H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(R64*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(R64Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
(D65H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(D65fs)
Deletion
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(S66G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(P67S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
TNFRSF6B, RTEL1-TNFRSF6B
(T69M)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
(G71D)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
RTEL1-TNFRSF6B, TNFRSF6B
(P72L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
RTEL1-TNFRSF6B, TNFRSF6B
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
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