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Items: 1 to 100 of 133

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL17RA, LINC01640
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067403, LOC130067404
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067651, LOC130067652
+1004 more
Copy number gain
See cases
GPathogenic
LOC130067596, LOC130067597
+687 more
Copy number gain
See cases
GPathogenic
A4GALT, ACR
+580 more
Copy number loss
See cases
GPathogenic
LOC126863184, LOC126863185
+541 more
Copy number gain
See cases
GPathogenic
LOC130067605, LOC130067606
+303 more
Copy number gain
See cases
GPathogenic
LOC126863187, LOC126863188
+523 more
Copy number gain
See cases
GPathogenic
A4GALT, ACR
+521 more
Copy number loss
See cases
GPathogenic
A4GALT, ALG12
+428 more
Copy number loss
See cases
GPathogenic
A4GALT, ADM2
+502 more
Copy number gain
See cases
GPathogenic
LOC126863187, LOC126863188
+495 more
Copy number gain
See cases
GPathogenic
CIMAP1B, CPT1B
+492 more
Copy number gain
See cases
GPathogenic
LOC130067640, LOC130067641
+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
ACR, ADM2
+451 more
Copy number loss
See cases
GPathogenic
DENND6B, EFCAB6
+443 more
Deletion
Phelan-McDermid syndrome
GPathogenic
ACR, ADM2
+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
ACR, ADM2
+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
LOC130067697, LOC130067698
+396 more
Copy number gain
See cases
GPathogenic
ARHGAP8, ATXN10
+105 more
Copy number gain
See cases
GUncertain significance
ACR, ADM2
+371 more
Copy number loss
See cases
GPathogenic
SMC1B
(R1161H +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SMC1B
(S1228T +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SMC1B
(P1201A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SMC1B
(D1120N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(D1159H)
Single nucleotide variant
(missense variant +1 more)
Myoepithelial tumor
GUncertain significance
SMC1B
(N1110K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SMC1B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMC1B
(S1074P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(F1055L)
Single nucleotide variant
(missense variant)
not provided
GBenign
SMC1B
(E970G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(I950T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(R923Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
Single nucleotide variant
(intron variant)
not provided
GBenign
SMC1B
(R825H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(I803M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(K795T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(R760Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SMC1B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SMC1B
(E733K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(M721L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(K713I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(R678Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(D667N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(L659I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(M622I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(I595T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(L588F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(R540Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(D521H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(R496C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(D447G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(I435M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(H414Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(R413S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(Q400K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(E399D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(A387S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(A346S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(V314A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMC1B
(E288G)
Single nucleotide variant
(missense variant)
Genetic non-acquired premature ovarian failure
GLikely pathogenic
SMC1B
(Q278R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(A265T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SMC1B
(K234N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(R208H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(L201S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(L201I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(K200R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(N185S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(K174T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(E163D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(P148T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(T139I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(A130G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(R114H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(R106H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SMC1B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMC1B
(E90K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(I82T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC1B
(S14L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP8, ATXN10
+24 more
Copy number loss
not specified
GLikely pathogenic
A4GALT, ADM2
+78 more
Copy number loss
not specified
GPathogenic
A4GALT, ACO2
+106 more
Copy number gain
not specified
GPathogenic
ACR, ADM2
+69 more
Copy number loss
not specified
GPathogenic
CELSR1, CERK
+64 more
Copy number loss
not specified
GPathogenic
CELSR1, CERK
+55 more
Copy number loss
not provided
GPathogenic
ACR, ADM2
+54 more
Copy number gain
not provided
GPathogenic
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