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Items: 1 to 100 of 867

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A4GALT, ACO2
+2088 more
Copy number gain
See cases
GPathogenic
LOC126863153, LOC126863154
+2088 more
Copy number gain
See cases
GPathogenic
LOC112695092, LOC112695093
+1004 more
Copy number gain
See cases
GPathogenic
LOC130067848, LOC130067849
+687 more
Copy number gain
See cases
GPathogenic
LOC130067673, LOC130067674
+580 more
Copy number loss
See cases
GPathogenic
SERHL2, SHANK3
+541 more
Copy number gain
See cases
GPathogenic
LOC130067881, LOC130067882
+523 more
Copy number gain
See cases
GPathogenic
A4GALT, ACR
+521 more
Copy number loss
See cases
GPathogenic
LOC130067875, LOC130067876
+502 more
Copy number gain
See cases
GPathogenic
LOC132090656, LOC132090657
+495 more
Copy number gain
See cases
GPathogenic
LOC130067636, LOC130067637
+492 more
Copy number gain
See cases
GPathogenic
ACR, ADM2
+483 more
Copy number loss
See cases
GPathogenic
ADM2, ALG12
+481 more
Copy number loss
See cases
GPathogenic
CRELD2, DENND6B
+471 more
Deletion
Phelan-McDermid syndrome
GPathogenic
LOC126863178, LOC126863179
+451 more
Copy number loss
See cases
GPathogenic
DENND6B, EFCAB6
+443 more
Deletion
Phelan-McDermid syndrome
GPathogenic
SBF1, SCO2
+441 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+434 more
Copy number loss
See cases
GPathogenic
ADM2, ALG12
+428 more
Copy number gain
See cases
GBenign
LOC121627953, LOC121627954
+411 more
Deletion
Phelan-McDermid syndrome
GPathogenic
CHKB, LOC112695108
+404 more
Copy number loss
Phelan-McDermid syndrome
GPathogenic
LOC130067877, LOC130067878
+401 more
Copy number loss
See cases
GPathogenic
CPT1B, CRELD2
+401 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+396 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+396 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+396 more
Copy number gain
See cases
GPathogenic
ACR, ADM2
+396 more
Copy number gain
See cases
GPathogenic
ACR, ADM2
+371 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+343 more
Copy number loss
See cases
GPathogenic
TRABD, TRABD-AS1
+338 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ADM2, ALG12
+333 more
Deletion
Phelan-McDermid syndrome
GPathogenic
MIRLET7BHG, MLC1
+315 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+295 more
Deletion
Phelan-McDermid syndrome
GPathogenic
LOC130067834, LOC130067835
+288 more
Copy number loss
See cases
GPathogenic
LOC130067779, LOC130067780
+281 more
Deletion
Phelan-McDermid syndrome
GPathogenic
LOC126863185, LOC126863186
+282 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+260 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+240 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+235 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+230 more
Copy number loss
See cases
GPathogenic
LOC126863188, LOC129391286
+228 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+226 more
Deletion
Phelan-McDermid syndrome
GPathogenic
LOC130067774, LOC130067775
+221 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+221 more
Copy number loss
See cases
GPathogenic
LOC130067781, LOC130067782
+221 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+211 more
Copy number loss
See cases
GPathogenic
LOC130067876, LOC130067877
+210 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+206 more
Deletion
Phelan-McDermid syndrome
GPathogenic
LOC126863183, LOC126863184
+207 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+207 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+204 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+204 more
Copy number loss
See cases
GPathogenic
DENND6B, HDAC10
+190 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+186 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+185 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+185 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+185 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+184 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+185 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+178 more
Copy number loss
Phelan-McDermid syndrome
GPathogenic
ACR, LOC130067783
+166 more
Duplication
Chromosome 22q13 duplication syndrome
GPathogenic
LOC130067853, LOC130067854
+117 more
Duplication
not provided
GUncertain significance
ADM2, ARSA
+123 more
Copy number gain
See cases
GUncertain significance
ACR, ADM2
+124 more
Copy number loss
See cases
GPathogenic
ACR, ADM2
+84 more
Copy number gain
See cases
GBenign
ADM2, CHKB
+52 more
Copy number gain
See cases
GUncertain significance
ADM2, CHKB
+52 more
Copy number gain
See cases
GUncertain significance
ACR, ADM2
+55 more
Copy number loss
See cases
GPathogenic
NCAPH2, SCO2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
SCO2, NCAPH2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
NCAPH2, SCO2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
SCO2, NCAPH2
(S266P)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
NCAPH2, SCO2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
NCAPH2, SCO2
(V264I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
NCAPH2, SCO2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
NCAPH2, SCO2
(S263N)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
NCAPH2, SCO2
(S263G)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
NCAPH2, SCO2
(R262H)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
NCAPH2, SCO2
(R262C)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GUncertain significance
NCAPH2, SCO2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
NCAPH2, SCO2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
NCAPH2, SCO2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GLikely benign
NCAPH2, SCO2
+1 more
(A259V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Fatal Infantile Cardioencephalomyopathy
+4 more
GBenign/Likely benign
NCAPH2, SCO2
(A259T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
NCAPH2, SCO2
(M258T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
NCAPH2, SCO2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
SCO2, NCAPH2
(R256Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
NCAPH2, SCO2
(R255L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
NCAPH2, SCO2
(R255Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
NCAPH2, SCO2
(R255W)
Single nucleotide variant
(3 prime UTR variant +1 more)
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
+1 more
GUncertain significance
NCAPH2, SCO2
Single nucleotide variant
(3 prime UTR variant +1 more)
Fatal Infantile Cardioencephalomyopathy
+4 more
GConflicting classifications of pathogenicity
NCAPH2, SCO2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
NCAPH2, SCO2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
NCAPH2, SCO2
(D252fs)
Deletion
(3 prime UTR variant +1 more)
not provided
GUncertain significance
NCAPH2, SCO2
(S253fs)
Duplication
(frameshift variant +1 more)
not provided
GLikely pathogenic
NCAPH2, SCO2
(D252E)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
NCAPH2, SCO2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
NCAPH2, SCO2
(D252fs)
Insertion
(3 prime UTR variant +1 more)
not provided
GUncertain significance
NCAPH2, SCO2
(S251L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GConflicting classifications of pathogenicity
NCAPH2, SCO2
(Q249H)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
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