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Items: 51

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129932539, LOC129932540
+1148 more
Copy number gain
See cases
GPathogenic
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
BPNT1, C1orf115
+138 more
Copy number loss
See cases
GPathogenic
BPNT1, C1orf115
+138 more
Copy number loss
See cases
GPathogenic
BPNT1, C1orf115
+135 more
Copy number gain
See cases
GPathogenic
BPNT1, C1orf115
+146 more
Deletion
Usher syndrome
GLikely pathogenic
AIDA, BROX
+84 more
Copy number loss
See cases
GPathogenic
MTARC2
(R17Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MTARC2
(A32T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MTARC2
(V33M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MTARC2
(M81V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MTARC2
(G86S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MTARC2
(V112M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MTARC2
(K156N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MTARC2
(G157S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MTARC2
(N162T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MTARC2
(G188A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MTARC2
(L195F)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MTARC2
(P211L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MTARC2
(V241L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MTARC2
(S260T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MTARC2
(T276M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MTARC2
(P301L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MTARC2
(R304K)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
MTARC2
(G328D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MTARC2
(M334L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACBD3, AIDA
+53 more
Copy number loss
not provided
GPathogenic
BPNT1, C1orf115
+20 more
Copy number loss
not provided
GPathogenic
BPNT1, C1orf115
+9 more
Duplication
not provided
GUncertain significance
MTARC2, RAB3GAP2
+11 more
Deletion
Martsolf syndrome
+1 more
GPathogenic
COA6, COG2
+381 more
Copy number gain
See cases
GPathogenic
IARS2, BROX
+27 more
Deletion
Loeys-Dietz syndrome 4
GPathogenic
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
CHML, CHRM3
+250 more
Copy number gain
See cases
GPathogenic
C1orf35, C1orf74
+320 more
Copy number gain
See cases
GPathogenic
CCDC185, NTPCR
+127 more
Copy number gain
not provided
GPathogenic
BROX, HHIPL2
+24 more
Copy number loss
not provided
GPathogenic
BPNT1, C1orf115
+12 more
Copy number gain
not provided
GUncertain significance
C4BPB, CACNA1S
+433 more
Copy number gain
not provided
GPathogenic
MARK1, MTARC1
+2 more
Copy number loss
not provided
GUncertain significance
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
AVPR1B, B3GALNT2
+393 more
Copy number gain
See cases
GPathogenic
ACBD3, ADIPOR1
+242 more
Copy number gain
See cases
GPathogenic
TGFB2, USH2A
+19 more
Deletion
Loeys-Dietz syndrome 4
GPathogenic
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