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Items: 51

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001537, LOC130001538
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002976, LOC130002977
+3784 more
Copy number gain
See cases
GPathogenic
LOC130001468, LOC130001469
+3785 more
Copy number gain
See cases
GPathogenic
DNAJB5, DNAJB5-DT
+3785 more
Copy number gain
See cases
GPathogenic
LOC114827838, LOC116186936
+3785 more
Copy number gain
See cases
GPathogenic
LOC124252641, LOC124252642
+3785 more
Copy number gain
See cases
GPathogenic
LOC114022701, LOC114022702
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABHD17B
+1072 more
Copy number gain
See cases
GPathogenic
ABCA1, ABHD17B
+1188 more
Copy number gain
See cases
GPathogenic
LOC130002218, LOC130002219
+994 more
Copy number gain
See cases
GPathogenic
LOC130002205, LOC130002206
+417 more
Copy number loss
See cases
GPathogenic
ABCA1, ABITRAM
+253 more
Copy number loss
See cases
GPathogenic
LOC126860732, LOC126860733
+514 more
Copy number loss
See cases
GPathogenic
ABCA1, ABITRAM
+514 more
Copy number loss
See cases
GPathogenic
CT70, CTNNAL1
+509 more
Copy number loss
See cases
GPathogenic
ABCA1, ACTL7A
+109 more
Copy number loss
Weiss-kruszka syndrome
GPathogenic
ABCA1, ABITRAM
+310 more
Copy number loss
See cases
GPathogenic
ABCA1, CT70
+58 more
Copy number gain
See cases
GUncertain significance
ABCA1, CT70
+56 more
Copy number gain
See cases
GUncertain significance
LOC130002289, TAL2
(W13R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130002289, TAL2
(R26K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAL2
(Q61E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAL2
(I74V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAL2
(T91A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAL2
(E94D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TAL2
(P103A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCA1, ABCA2
+769 more
Copy number gain
not specified
GPathogenic
ABCA1, ALDOB
+34 more
Copy number loss
not specified
GPathogenic
FKTN, TAL2
+1 more
Copy number loss
not provided
GUncertain significance
CARD19, MIR24-1
+106 more
Deletion
not provided
GPathogenic
ABCA1, FKTN
+4 more
Duplication
Walker-Warburg congenital muscular dystrophy
GUncertain significance
FKTN, TAL2
+1 more
Deletion
Walker-Warburg congenital muscular dystrophy
GPathogenic
ANKS6, ANP32B
+596 more
Copy number gain
See cases
GPathogenic
ABCA1, ABHD17B
+417 more
Copy number loss
Distal tetrasomy 15q
GUncertain significance
ABCA1, ABITRAM
+130 more
Copy number loss
not specified
GPathogenic
ABCA1, ABHD17B
+261 more
Copy number gain
not specified
GLikely pathogenic
OR1L4, PTRH1
+768 more
Copy number gain
not specified
GPathogenic
FKTN, TAL2
+1 more
Duplication
not provided
GUncertain significance
FKTN, TAL2
+1 more
Deletion
Walker-Warburg congenital muscular dystrophy
GPathogenic
ABCA1, ALDOB
+34 more
Copy number gain
not provided
GUncertain significance
TSTD2, XPA
+84 more
Copy number loss
See cases
GPathogenic
ABCA1, ABCA2
+552 more
Copy number gain
not provided
GPathogenic
ABCA1, ABCA2
+769 more
Copy number gain
not provided
GPathogenic
TXN, FKTN
+44 more
Copy number loss
not provided
GPathogenic
SEC16A, SEC61B
+553 more
Copy number gain
Hypotonia
+2 more
GLikely pathogenic
ABCA1, ABCA2
+769 more
Copy number gain
See cases
GPathogenic
UBQLN1, UCK1
+771 more
Copy number gain
See cases
GPathogenic
ABCA1, ABITRAM
+48 more
Copy number loss
See cases
GPathogenic
ANGPTL2, ANKRD18A
+771 more
Copy number gain
See cases
GPathogenic
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