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Links from Gene

Items: 64

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELMOD2
(V249I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELMOD2
(V293L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELMOD2
(K292E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELMOD2
(S221T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELMOD2
(K81N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELMOD2
(H45Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAT1, FAT4
+197 more
Copy number gain
not specified
GPathogenic
AADAT, ABCE1
+286 more
Copy number gain
not specified
GPathogenic
CLGN, ELMOD2
+4 more
Copy number gain
not specified
GUncertain significance
ELMOD2
(S221N)
Single nucleotide variant
(missense variant)
ELMOD2-related disorder
GLikely benign
ELMOD2
Single nucleotide variant
(synonymous variant)
ELMOD2-related disorder
GLikely benign
HPGDS, SCRG1
+537 more
Copy number gain
not provided
GPathogenic
SPOCK3, SPRY1
+153 more
Copy number gain
not provided
GPathogenic
ELMOD2
(G234D)
Single nucleotide variant
(missense variant)
ELMOD2-related disorder
GUncertain significance
ELMOD2
(N183I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELMOD2
(P119Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELMOD2
(D161N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELMOD2
(E222G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELMOD2
(N210S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELMOD2
(S217G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELMOD2
(G27E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELMOD2
(H227P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELMOD2
(M265T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELMOD2
(E239D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELMOD2
(V115E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLGN, ELF2
+23 more
Copy number gain
not specified
GUncertain significance
ABHD18, ADAD1
+123 more
Copy number gain
not specified
GPathogenic
ANAPC10, CLGN
+28 more
Copy number loss
not provided
GPathogenic
CLGN, ELF2
+15 more
Copy number loss
not provided
GPathogenic
AASDH, ABCG2
+359 more
Copy number gain
not provided
GPathogenic
ELMOD2
Single nucleotide variant
(intron variant)
not provided
GBenign
ELMOD2
Single nucleotide variant
(intron variant)
not provided
GBenign
ELMOD2
Single nucleotide variant
(intron variant)
not provided
GBenign
ELMOD2
Single nucleotide variant
(intron variant)
not provided
GBenign
ELMOD2
Single nucleotide variant
(intron variant)
not provided
GBenign
ELMOD2
Single nucleotide variant
(intron variant)
not provided
GBenign
ETFDH, FAM218A
+108 more
Copy number gain
not provided
GPathogenic
FREM3, HHIP
+28 more
Copy number loss
not provided
GPathogenic
MGAT4D, SETD7
+14 more
Copy number loss
not provided
GPathogenic
AADAT, ABCE1
+163 more
Copy number gain
not provided
GPathogenic
ABCE1, ANAPC10
+21 more
Copy number loss
not provided
GUncertain significance
CLGN, ELF2
+20 more
Copy number loss
not provided
GUncertain significance
CLGN, ELMOD2
+5 more
Copy number gain
not provided
GUncertain significance
UCP1, MAML3
+4 more
Copy number gain
not provided
GUncertain significance
ELMOD2
Single nucleotide variant
(intron variant)
not specified
GBenign
ELMOD2
(V39G)
Single nucleotide variant
(missense variant)
not specified
+1 more
GLikely benign
AADAT, ABCE1
+314 more
Copy number gain
See cases
GPathogenic
CFAP97, CFI
+255 more
Copy number gain
See cases
GPathogenic
AADAT, AASDH
+745 more
Copy number gain
See cases
GPathogenic
MRPL1, MSANTD1
+745 more
Copy number gain
See cases
GPathogenic
H2AZ1, HADH
+744 more
Copy number gain
See cases
GPathogenic
SCOC, SCRG1
+218 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+142 more
Copy number gain
See cases
GPathogenic
ELMOD2
(K143T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
ELMOD2
Single nucleotide variant
(3 prime UTR variant)
not specified
GBenign
ELMOD2
(K225R)
Single nucleotide variant
(missense variant)
Long QT syndrome
GLikely benign
LOC132090717, LOC132090718
+1051 more
Copy number gain
See cases
GPathogenic
QKILA, RAB33B
+1102 more
Copy number gain
See cases
GPathogenic
LOC129993091, LOC129993092
+1068 more
Copy number gain
See cases
GPathogenic
LOC129993335, LOC129993336
+1026 more
Copy number gain
See cases
GPathogenic
LOC129993132, LOC129993133
+420 more
Copy number loss
See cases
GPathogenic
AADAT, ABCE1
+1245 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+1310 more
Copy number gain
See cases
GPathogenic
LINC02479, LINC02485
+185 more
Copy number loss
See cases
GPathogenic
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