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Items: 78

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC132089226, LOC132089227
+1167 more
Copy number gain
See cases
GPathogenic
LOC129995440, LOC129995441
+864 more
Copy number gain
See cases
GPathogenic
ADAMTS2, ARL10
+676 more
Copy number gain
See cases
GPathogenic
LOC129995246, LOC129995247
+622 more
Copy number gain
See cases
GPathogenic
LOC129995359, LOC129995360
+386 more
Copy number loss
See cases
GPathogenic
ADAMTS2, B4GALT7
+325 more
Copy number loss
See cases
GPathogenic
ADAMTS2, BTNL3
+207 more
Copy number gain
See cases
GLikely pathogenic
ADAMTS2, BTNL3
+203 more
Copy number gain
See cases
GUncertain significance
BTNL3, BTNL8
+90 more
Copy number gain
See cases
GUncertain significance
LINC01962, LOC123575640
+49 more
Copy number gain
See cases
GUncertain significance
TRIM7, TRIM7-AS2
(V318A +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
TRIM7, TRIM7-AS2
(Q309R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM7, TRIM7-AS2
(V280I +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
TRIM7, TRIM7-AS2
(T303I +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
TRIM7, TRIM7-AS2
(S265F +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
TRIM7, TRIM7-AS2
(V253A +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
TRIM7, TRIM7-AS2
(S246R +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
TRIM7, TRIM7-AS2
(R450G +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
TRIM7, TRIM7-AS2
(L435Q +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
TRIM7, TRIM7-AS2
(R214P +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
TRIM7, TRIM7-AS2
(Q371R +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
TRIM7, TRIM7-AS2
(R161L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
TRIM7, TRIM7-AS2
(R161P +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
TRIM7, TRIM7-AS2
(V156L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
TRIM7
(D149E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM7
(K327N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM7
(F137L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM7
(V103L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM7
(T301I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM7
(E64D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM7
(L71V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM7
(L59Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM7
(L235Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM7
(R233Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM7
(E231K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM7
(F18S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM7
(A211G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM7
(A3E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM7
(E201D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129995496, TRIM7
(H161D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129995496, TRIM7
(R154S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129995496, TRIM7
(C130S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129995496, TRIM7
(A126S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129995496, TRIM7
(E115D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129995496, TRIM7
(P109T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129995496, TRIM7
(T101R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129995496, TRIM7
(T101P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129995496, TRIM7
(N93T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129995496, TRIM7
(P87L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129995496, TRIM7
(R82C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129995496, TRIM7
(P79Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129995496, TRIM7
(P73R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM7
(G66A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM7
(R37L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM7
(E22K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS2, BTNL3
+34 more
Copy number gain
not provided
GUncertain significance
BTNL3, BTNL8
+15 more
Copy number loss
not provided
GUncertain significance
ADAMTS2, ARL10
+117 more
Copy number gain
See cases
GPathogenic
ADAM19, ADAMTS2
+222 more
Copy number gain
Hunter-McAlpine craniosynostosis
GPathogenic
ADAMTS2, ARL10
+115 more
Copy number gain
5q35 microduplication syndrome
GPathogenic
TRIM7, RACK1
+16 more
Copy number gain
not provided
GUncertain significance
OR2V2, TRP-TGG3-1
+8 more
Copy number loss
not provided
GUncertain significance
OR2V2, TRIM7
+22 more
Copy number gain
not provided
GUncertain significance
ADAMTS2, BTNL3
+30 more
Copy number gain
not provided
GUncertain significance
ADAMTS2, B4GALT7
+59 more
Copy number gain
not provided
GPathogenic
ADAMTS2, B4GALT7
+80 more
Duplication
not provided
GLikely pathogenic
ADAMTS2, ARL10
+90 more
Copy number gain
not provided
GPathogenic
ADAMTS2, BTNL3
+43 more
Copy number loss
not provided
GLikely pathogenic
ADAMTS2, BTNL3
+50 more
Copy number loss
not provided
GUncertain significance
ADAMTS2, BTNL3
+48 more
Copy number gain
See cases
GUncertain significance
OR2V1, OR2V2
+9 more
Copy number loss
See cases
GUncertain significance
ADAMTS2, ARL10
+86 more
Copy number loss
See cases
GPathogenic
ADAMTS2, ARL10
+106 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
RACK1, TRIM41
+3 more
Copy number gain
See cases
GUncertain significance
HRH2, HSD17B4
+520 more
Copy number gain
See cases
GPathogenic
BTNL9, C5orf60
+92 more
Copy number loss
See cases
GPathogenic
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