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Items: 1 to 100 of 252

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129993633, LOC129993634
+532 more
Copy number loss
See cases
GPathogenic
LOC129993624, LOC129993625
+559 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+553 more
Copy number loss
See cases
GPathogenic
LOC129993692, LOC129993693
+561 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+478 more
Copy number loss
See cases
GPathogenic
ADAMTS12, ADAMTS16
+697 more
Copy number loss
See cases
GPathogenic
ACTBL2, ADAMTS12
+1445 more
Copy number gain
See cases
GPathogenic
LOC126807323, LOC126807324
+530 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+537 more
Copy number loss
See cases
GPathogenic
LOC132090721, LOC132090722
+556 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+542 more
Copy number gain
See cases
GPathogenic
LOC108254683, LOC110120635
+559 more
Copy number gain
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+561 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+559 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+606 more
Copy number loss
See cases
GPathogenic
LOC126807328, LOC126807329
+559 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+642 more
Copy number gain
See cases
GPathogenic
LOC129993561, LOC129993562
+552 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+538 more
Copy number loss
See cases
GPathogenic
LOC129993643, LOC129993644
+521 more
Copy number loss
See cases
GPathogenic
ADAMTS16, ADAMTS16-DT
+574 more
Copy number loss
See cases
GPathogenic
ADAMTS12, ADAMTS16
+953 more
Copy number gain
See cases
GPathogenic
LINC02116, LINC02120
+696 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+952 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+657 more
Copy number loss
See cases
GPathogenic
LOC129993721, LOC129993722
+334 more
Copy number loss
See cases
GPathogenic
ADAMTS12, ADAMTS16
+530 more
Copy number gain
See cases
GPathogenic
LOC126807306, LOC126807307
+304 more
Copy number loss
See cases
GPathogenic
ANKH, ANKRD33B
+156 more
Copy number gain
See cases
GPathogenic
ANKH, BASP1
+123 more
Copy number loss
See cases
GPathogenic
ANKH, BASP1
+142 more
Copy number loss
See cases
GPathogenic
BASP1, BASP1-AS1
+41 more
Copy number loss
See cases
GUncertain significance
MYO10
(Q2054K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(R2049H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(K2031R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(S2024T)
Single nucleotide variant
(missense variant)
not provided
GBenign
MYO10
(D2015N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(T2009M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(D1978N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(K1942Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(M1934I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(R1921Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(S1918Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(S1918F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(R1900W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(R1891Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(T1882K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(R1876Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(K1861R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(Y1855F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(L1851F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(P1850L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(T1843I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYO10
(L1827F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(P1823A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(A1822V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(G1818V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(N1796S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
MYO10
(L1788V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(Y1785F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(T1774I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(V1761I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(T1720A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(I1716V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(T1672A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MYO10
(F1660L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(R1657Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MYO10
(R1603Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MYO10
(D1551Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MYO10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MYO10
(P1531L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(S1520L)
Single nucleotide variant
(missense variant)
not provided
GBenign
MYO10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MYO10
(T1504S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO10
(R1487L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(N1483S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(R1476W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(L1412M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MYO10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MYO10
(T1368M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(A1366V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(S1340C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MYO10
(D1313G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
Copy number gain
See cases
GUncertain significance
MYO10
(S1299G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(R1286T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(D1285N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(I1282N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(T1265M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(R1237H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(L1229P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO10
(G1223A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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