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Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129388734, LOC129388735
+723 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1428 more
Copy number gain
See cases
GPathogenic
LOC126806029, LOC129932471
+720 more
Copy number loss
Orofacial cleft 2
Gassociation
LOC120908923, LOC120947224
+1352 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1326 more
Copy number gain
See cases
GPathogenic
LOC129932855, LOC129932856
+1168 more
Copy number gain
See cases
GPathogenic
ACBD3, ACBD3-AS1
+287 more
Copy number loss
See cases
GPathogenic
TARBP1, TBCE
+968 more
Copy number gain
See cases
GPathogenic
CAPN2, CNIH3
+40 more
Copy number loss
See cases
GUncertain significance
LINC02765, LINC02768
+955 more
Copy number gain
See cases
GPathogenic
LOC440742, LYPD8
+955 more
Copy number gain
See cases
GPathogenic
CNIH3, CNIH3-AS1
+43 more
Copy number loss
See cases
GUncertain significance
ABCB10, ACBD3
+953 more
Copy number gain
See cases
GPathogenic
LOC129932825, LOC129932826
+952 more
Copy number gain
See cases
GPathogenic
LOC129932658, LOC129932659
+950 more
Copy number gain
See cases
GPathogenic
CNIH3, CNIH4
+12 more
Copy number loss
Skraban-Deardorff syndrome
GPathogenic
LOC129932589, LOC129932590
+10 more
Complex
Skraban-Deardorff syndrome
GPathogenic
CNIH4
(A3G)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CNIH4
(V7L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CNIH4
(S20L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CNIH4
(M64I +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CNIH4
(L134V +2 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
CNIH4
(D139Y +2 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
ACBD3, AIDA
+53 more
Copy number loss
not provided
GPathogenic
ABCB10, ACBD3
+113 more
Copy number gain
not provided
Gnot provided
ABCB10, ACBD3
+185 more
Copy number gain
not provided
GPathogenic
AIDA, BROX
+21 more
Copy number loss
not provided
GUncertain significance
COA6, COG2
+381 more
Copy number gain
See cases
GPathogenic
CNIH3, CNIH4
+3 more
Copy number loss
Chromosome 1q41-q42 deletion syndrome
GPathogenic
ACBD3, AIDA
+38 more
Copy number gain
not specified
GPathogenic
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
CCDC185, CNIH4
+7 more
Copy number loss
Global developmental delay
GPathogenic
CNIH4, WDR26
+1 more
Copy number loss
not provided
GPathogenic
TLR5, DEGS1
+16 more
Copy number loss
not provided
GPathogenic
CHML, CHRM3
+250 more
Copy number gain
See cases
GPathogenic
C1orf35, C1orf74
+320 more
Copy number gain
See cases
GPathogenic
FBXO28, ACBD3
+83 more
Copy number loss
not provided
GPathogenic
PSEN2, FBXO28
+42 more
Copy number loss
not provided
GPathogenic
CCDC185, NTPCR
+127 more
Copy number gain
not provided
GPathogenic
C4BPB, CACNA1S
+433 more
Copy number gain
not provided
GPathogenic
CNIH3, CNIH4
+3 more
Copy number gain
not provided
GUncertain significance
CNIH3, CNIH4
+5 more
Copy number loss
not provided
GPathogenic
H2BC26, H3-3A
+213 more
Copy number gain
not provided
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+184 more
Copy number gain
See cases
GPathogenic
AVPR1B, B3GALNT2
+393 more
Copy number gain
See cases
GPathogenic
ACBD3, ADIPOR1
+242 more
Copy number gain
See cases
GPathogenic
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