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Items: 1 to 100 of 164

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP8A2, ATXN8OS
+2049 more
Copy number loss
See cases
GPathogenic
LOC130009892, LOC130009893
+2050 more
Copy number gain
See cases
GPathogenic
LOC130009819, LOC130009820
+2048 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2045 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2046 more
Copy number gain
See cases
GPathogenic
LOC130009309, LOC130009310
+2041 more
Copy number gain
See cases
GPathogenic
LOC130009607, LOC130009608
+2029 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2025 more
Copy number gain
See cases
GPathogenic
LOC130009383, LOC130009384
+2022 more
Copy number gain
See cases
GPathogenic
LOC126861859, LOC126861860
+2025 more
Copy number gain
See cases
GPathogenic
LOC112163664, LOC112163665
+2025 more
Copy number gain
See cases
GPathogenic
LOC130009687, LOC130009688
+1557 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+1404 more
Copy number loss
See cases
GPathogenic
LOC130009917, LOC130009918
+1288 more
Copy number gain
See cases
GPathogenic
ARHGEF7-AS1, ARHGEF7-AS2
+1268 more
Copy number gain
See cases
GPathogenic
LOC124946344, LOC124946345
+706 more
Copy number gain
See cases
GPathogenic
LOC130010101, LOC130010102
+705 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+663 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+650 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+638 more
Copy number gain
See cases
GPathogenic
DOCK9-DT, EFNB2
+544 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+421 more
Copy number gain
See cases
GPathogenic
LOC132090158, LOC132090159
+395 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+369 more
Copy number loss
See cases
GPathogenic
LOC130010172, LOC130010173
+367 more
Copy number gain
See cases
GPathogenic
ABHD13, ADPRHL1
+360 more
Copy number gain
See cases
GPathogenic
GAS6-AS1, GAS6-DT
+363 more
Copy number loss
See cases
GPathogenic
LOC121468007, LOC121838584
+339 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+331 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+331 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+332 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+325 more
Copy number gain
See cases
GUncertain significance
LOC116268457, LOC121468007
+321 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+318 more
Copy number loss
See cases
GPathogenic
LOC130010165, LOC130010166
+312 more
Copy number loss
Chromosome 13q33-q34 deletion syndrome
GPathogenic
ABHD13, ADPRHL1
+302 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+286 more
Copy number loss
See cases
GPathogenic
ABHD13, ADPRHL1
+286 more
Copy number loss
See cases
GPathogenic
ADPRHL1, ANKRD10
+271 more
Copy number loss
See cases
GPathogenic
LOC130010213, LOC130010214
+261 more
Deletion
Factor VII deficiency
+1 more
GPathogenic
ADPRHL1, ANKRD10
+179 more
Copy number loss
See cases
GPathogenic
MCF2L, MCF2L-AS1
+158 more
Copy number gain
See cases
GLikely pathogenic
ADPRHL1, ARHGEF7
+149 more
Copy number loss
See cases
GPathogenic
ADPRHL1, ATP11A
+143 more
Copy number loss
See cases
GPathogenic
ADPRHL1, ATP11A
+141 more
Copy number gain
See cases
GPathogenic
ADPRHL1, ATP11A
+83 more
Copy number loss
See cases
GPathogenic
ADPRHL1, ATP11A
+68 more
Copy number gain
See cases
GPathogenic
PCID2, PROZ
(E179D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCID2, PROZ
(R203H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCID2, PROZ
Single nucleotide variant
(synonymous variant)
PROZ-related disorder
GLikely benign
PCID2, PROZ
(P189L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCID2, PROZ
(E198K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCID2, PROZ
(G199R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCID2, PROZ
(R231W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROZ, PCID2
(T216I +1 more)
Single nucleotide variant
(missense variant)
Abnormal bleeding
+1 more
GUncertain significance
PCID2, PROZ
(N225fs +1 more)
Deletion
(frameshift variant)
not provided
GLikely benign
PCID2, PROZ
(R234K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCID2, PROZ
(T235M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCID2, PROZ
(V269I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCID2, PROZ
(M273T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCID2, PROZ
(R274W +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PCID2, PROZ
(A255V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCID2, PROZ
(A279T +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PCID2, PROZ
(E259V +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PCID2, PROZ
(A276V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROZ, PCID2
(P283fs +1 more)
Deletion
(frameshift variant)
Protein Z deficiency
GUncertain significance
PCID2, PROZ
(A288T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCID2, PROZ
(L291F +1 more)
Single nucleotide variant
(missense variant)
PROZ-related disorder
+1 more
GBenign
PCID2, PROZ
(R295H +1 more)
Single nucleotide variant
(missense variant)
PROZ-related disorder
GLikely benign
PCID2, PROZ
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PCID2, PROZ
(G302S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PROZ, PCID2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PCID2, PROZ
(G328A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCID2, PROZ
(S366G +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PCID2, PROZ
(V368M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCID2, PROZ
(D353E +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PCID2, PROZ
(G354A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCID2, PROZ
(S355G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCID2, PROZ
(T408I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCID2
(T355M +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCID2
Single nucleotide variant
(intron variant)
not provided
GBenign
PCID2
(H293N +4 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PCID2
(V119M +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCID2
(M250V +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCID2
(S241C +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCID2
(Y190D +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCID2
(D183N +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCID2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
PCID2
(A94T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCID2
(R147Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCID2
(C41Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PCID2
(E13K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABHD13, ADPRHL1
+66 more
Copy number gain
not provided
GPathogenic
ADPRHL1, ATP11A
+23 more
Copy number gain
not provided
GUncertain significance
ABCC4, ABHD13
+97 more
Copy number loss
not specified
GPathogenic
ABHD13, ADPRHL1
+54 more
Copy number loss
not specified
GPathogenic
ABHD13, ADPRHL1
+39 more
Copy number gain
not specified
GUncertain significance
ABHD13, ADPRHL1
+53 more
Copy number loss
not specified
GPathogenic
ABCC4, ABHD13
+98 more
Copy number gain
not specified
GPathogenic
ABHD13, ADPRHL1
+44 more
Copy number loss
not specified
GPathogenic
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