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Items: 48

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
ACSM1, ACSM2A
+6 more
Copy number loss
See cases
GUncertain significance
ACSM1, ACSM2A
+35 more
Copy number loss
See cases
GUncertain significance
ACSM2B
(D440E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSM2B
(V493E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSM2B
(A408D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSM2B
(R461Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSM2B
(R461W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSM2B
(K371T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSM2B
(T354I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSM2B
(P337R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSM2B
(I395T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSM2B
(V394D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSM2B
(T306M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSM2B
(M376V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSM2B
(S373F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSM2B
(E339A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSM2B
(S245C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSM2B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ACSM2B
(I305V)
Single nucleotide variant
(missense variant)
not provided
GBenign
ACSM2B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ACSM2B
(M165V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSM2B
(S137T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSM2B
(N120K +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ACSM2B
(M72I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSM2B
(Q60K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSM2B
(Q91R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSM2B
(H53L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSM2B
(P41L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSM2B
(R5Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABAT, ABCC1
+226 more
Copy number gain
not provided
GPathogenic
ERI2, GP2
+15 more
Copy number gain
not specified
GUncertain significance
ABAT, ABCC1
+252 more
Copy number gain
See cases
GPathogenic
ACSM2B, ACSM2A
+2 more
Copy number gain
not provided
GLikely benign
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
ACSM1, ACSM2B
Copy number loss
See cases
GUncertain significance
ACSM1, ACSM2A
+119 more
Copy number gain
See cases
GPathogenic
ABCC6, BCL7C
+811 more
Copy number gain
See cases
GPathogenic
ALG1, BICDL2
+388 more
Complex
Hemimegalencephaly
GPathogenic
ACSM1, ACSM2A
+95 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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