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Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABR, ABR-AS1
+962 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+463 more
Copy number loss
See cases
GPathogenic
LOC130059883, LOC130059884
+922 more
Copy number gain
See cases
GPathogenic
TRARG1, TRPV1
+651 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+498 more
Copy number loss
See cases
GPathogenic
SAT2, SCARF1
+911 more
Copy number gain
Chromosome 17p13.3 duplication syndrome
GPathogenic
LOC121848004, LOC121848005
+457 more
Copy number loss
See cases
GPathogenic
LOC130059937, LOC130059938
+604 more
Copy number gain
See cases
GPathogenic
CAMKK1, CAMTA2
+303 more
Copy number loss
See cases
GPathogenic
AIPL1, ALOX12
+290 more
Copy number loss
See cases
GPathogenic
ALOX15, ANKFY1
+166 more
Copy number loss
See cases
GLikely pathogenic
ALOX15, ANKFY1
+141 more
Copy number gain
See cases
GLikely benign
ALOX15, ANKFY1
+70 more
Copy number gain
See cases
GUncertain significance
C17orf107, C17orf114
+68 more
Duplication
7p22.1 microduplication syndrome
GUncertain significance
VMO1
(L197I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
VMO1
(A195V)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GLikely benign
VMO1
(D194Y)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
VMO1
(A191E)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
VMO1
(F162L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
VMO1
(G160R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
VMO1
(G154E)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
VMO1
(S147A)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
VMO1
(V142M)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
VMO1
(T137R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
VMO1
(V121A)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
VMO1
(G117R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
VMO1
(L112P)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
VMO1
(P111Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
VMO1
(R83S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VMO1
(D75Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
VMO1
(P73L)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
VMO1
(F57V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VMO1
(D46G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VMO1
(I36V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VMO1
(A5V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO39, FGF11
+209 more
Duplication
not provided
GUncertain significance
ABR, ACADVL
+329 more
Copy number gain
not specified
GPathogenic
ABR, ALOX15
+116 more
Copy number loss
not specified
GPathogenic
C17orf107, CAMTA2
+22 more
Copy number gain
not provided
GUncertain significance
ALOX15, ANKFY1
+31 more
Copy number loss
not specified
GUncertain significance
ABR, ALOX15
+115 more
Copy number loss
See cases
GPathogenic
ALOX15, ANKFY1
+48 more
Copy number loss
not provided
GUncertain significance
ABR, ALOX15
+115 more
Copy number gain
Chromosome 17P13.3, telomeric, duplication syndrome
GPathogenic
INCA1, SLC25A11
+18 more
Copy number gain
not provided
GUncertain significance
ARRB2, MINK1
+20 more
Copy number gain
not provided
GUncertain significance
CXCL16, SLC52A1
+36 more
Copy number gain
not provided
GUncertain significance
ABR, ACADVL
+240 more
Copy number gain
not provided
GPathogenic
ABR, ACADVL
+250 more
Copy number gain
See cases
GPathogenic
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
C17orf107, CHRNE
+14 more
Copy number loss
See cases
GUncertain significance
AIPL1, ALOX15
+115 more
Copy number gain
See cases
GPathogenic
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