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Items: 53

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABAT, ABCC1
+852 more
Copy number gain
See cases
GPathogenic
LOC125146428, LOC125146429
+400 more
Copy number gain
See cases
GPathogenic
ARL6IP1, CLEC19A
+24 more
Copy number gain
See cases
GUncertain significance
ITPRIPL2
(R37P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIPL2
(A41S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIPL2
(G47S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIPL2
(P49L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIPL2
(G77V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(A85P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(G96D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(R169P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(A213G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(G223D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(C237F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(H245L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(T249I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(R253S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(Q256R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(Q256H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(R267L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(P286S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(A323S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(P326L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(P326R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(S331C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(A343G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ITPRIPL2
(R353C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(R383C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(R388H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(T396I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(A420S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(G422V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(V438M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(F440V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(V455I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(V455D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ITPRIPL2
(G529A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCP110, CLEC19A
+9 more
Copy number gain
not provided
GUncertain significance
ABAT, ABCC1
+226 more
Copy number gain
not provided
GPathogenic
ABAT, ABCC1
+252 more
Copy number gain
See cases
GPathogenic
ABAT, ABCC1
+250 more
Copy number gain
Microcephaly
GPathogenic
ACSM1, ACSM2A
+128 more
Copy number gain
See cases
GPathogenic
ABAT, ABCA3
+295 more
Copy number gain
See cases
GPathogenic
CBLN1, CCDC102A
+591 more
Copy number gain
See cases
GUncertain significance
AARS1, ABAT
+811 more
Copy number gain
See cases
GPathogenic
CCL22, CCNF
+811 more
Copy number gain
See cases
GPathogenic
PRSS27, PRSS33
+263 more
Copy number gain
See cases
GPathogenic
ABCC6, BCL7C
+811 more
Copy number gain
See cases
GPathogenic
ALG1, BICDL2
+388 more
Complex
Hemimegalencephaly
GPathogenic
CCP110, CLEC19A
+6 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
ABAT, ABCA3
+384 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
ABAT, ABCA3
+330 more
Copy number gain
See cases
GPathogenic
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