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Items: 72

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
LOC121967050, LOC121967051
+520 more
Copy number loss
See cases
GPathogenic
LOC129929262, LOC129929263
+458 more
Copy number loss
See cases
GPathogenic
CEP104, CFAP74
+449 more
Copy number loss
See cases
GPathogenic
PUSL1, RER1
+470 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+806 more
Copy number loss
See cases
GPathogenic
LOC129929192, LOC129929193
+490 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+441 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+519 more
Copy number loss
See cases
GPathogenic
LOC129929075, LOC129929076
+464 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+578 more
Copy number loss
See cases
GPathogenic
LRRC47, MEGF6
+564 more
Copy number loss
See cases
GPathogenic
LOC129929302, LOC129929303
+577 more
Copy number loss
See cases
GPathogenic
ACOT7, ACTRT2
+226 more
Copy number loss
See cases
GPathogenic
LOC112577578, LOC112577579
+199 more
Copy number loss
See cases
GPathogenic
LINC02783, LINC03126
+804 more
Copy number loss
See cases
GPathogenic
ACOT7, AJAP1
+193 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+500 more
Copy number loss
See cases
GPathogenic
LOC129929435, LOC129929436
+505 more
Copy number loss
See cases
GPathogenic
PLOD1, PRAMEF1
+730 more
Copy number loss
See cases
GPathogenic
LOC129929327, LOC129929328
+557 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+563 more
Copy number gain
See cases
GPathogenic
THAP3
(A6T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THAP3
(R8W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THAP3
(Y14H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129929263, THAP3
(R17L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129929263, THAP3
(Q20R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THAP3
(P27L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THAP3
(R70C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THAP3
(D86N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
THAP3
(R149W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
THAP3
(P159L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THAP3
(A164E +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THAP3
(T194I +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
THAP3
(K204R +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
THAP3
(R212C +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
THAP3
(S217I +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
THAP3
(R221C +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DNAJC11, DRAXIN
+76 more
Deletion
not provided
GUncertain significance
AADACL3, AADACL4
+207 more
Copy number loss
not provided
GPathogenic
AADACL3, AADACL4
+80 more
Copy number loss
not specified
GPathogenic
ACOT7, AJAP1
+23 more
Copy number loss
not specified
GPathogenic
RNF207, RNF223
+108 more
Copy number loss
not specified
GPathogenic
PLEKHG5, TNFRSF25
+9 more
Copy number gain
not provided
GUncertain significance
ACAP3, ACOT7
+116 more
Copy number loss
not provided
GPathogenic
NOL9, TNFRSF1B
+184 more
Deletion
Chromosome 1p36 deletion syndrome
GPathogenic
ACAP3, ACOT7
+159 more
Copy number loss
not provided
GPathogenic
ACOT7, CAMTA1
+19 more
Copy number loss
not provided
GPathogenic
GPR157, H6PD
+124 more
Copy number loss
Chromosome 1p36 deletion syndrome, proximal
GPathogenic
ICMT, KLHL21
+19 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
ACOT7, CAMTA1
+13 more
Copy number gain
not specified
GUncertain significance
DNAJC11, DVL1
+101 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
AJAP1, KAZN
+228 more
Copy number loss
not provided
GPathogenic
SMIM1, ZBTB48
+47 more
Copy number loss
Chromosome 1p36 deletion syndrome
Gnot provided
PUSL1, RER1
+98 more
Copy number loss
Harel-Yoon syndrome
GLikely pathogenic
ACAP3, ACOT7
+98 more
Copy number loss
not provided
GPathogenic
ACAP3, ACOT7
+148 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+100 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+119 more
Deletion
Neurodevelopmental disorder
GPathogenic
ANKRD65, ARHGEF16
+97 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
ACAP3, ACOT7
+98 more
Copy number loss
not provided
GPathogenic
ACAP3, ACOT7
+106 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+98 more
Copy number loss
See cases
GPathogenic
ACOT7, ACTRT2
+34 more
Copy number loss
See cases
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
AADACL3, AADACL4
+96 more
Copy number loss
See cases
GPathogenic
ACTRT2, AJAP1
+35 more
Copy number gain
See cases
GBenign
CCNL2, CDK11A
+188 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+162 more
Copy number loss
See cases
GPathogenic
RER1, RERE
+212 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
IGSF21, IL22RA1
+314 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
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