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Items: 1 to 100 of 115

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057927, LOC130057928
+1764 more
Copy number gain
See cases
GPathogenic
LOC116268473, LOC116268474
+1244 more
Copy number gain
See cases
GPathogenic
LOC130057943, LOC130057944
+664 more
Copy number gain
See cases
GPathogenic
LOC130057907, LOC130057908
+630 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+611 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+552 more
Copy number gain
See cases
GPathogenic
MIR11181, MIR1179
+517 more
Copy number gain
See cases
GPathogenic
LOC130057997, LOC130057998
+500 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+422 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+228 more
Copy number gain
See cases
GPathogenic
LYSMD4, MCTP2
+224 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+205 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+218 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+202 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+203 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+201 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+195 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+184 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+185 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+184 more
Copy number gain
See cases
GLikely pathogenic
ADAMTS17, ALDH1A3
+179 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+174 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+171 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+165 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+159 more
Copy number loss
See cases
GPathogenic
LOC130058070, LOC130058071
+148 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+127 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+121 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+69 more
Copy number gain
See cases
GUncertain significance
ADAMTS17, ALDH1A3
+84 more
Copy number loss
See cases
GPathogenic
CHSY1, LOC100507472
+29 more
Copy number gain
See cases
GLikely benign
CHSY1, LOC100507472
+20 more
Copy number gain
See cases
GBenign
CHSY1, LOC100507472
+17 more
Copy number gain
See cases
GBenign
PCSK6, SNRPA1-DT
(T890M +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PCSK6
(A867V +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PCSK6
(G779R +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PCSK6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PCSK6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PCSK6
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
PCSK6
Single nucleotide variant
(intron variant)
not provided
GBenign
PCSK6
(V503A)
Single nucleotide variant
(missense variant +1 more)
not specified
GBenign
PCSK6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
PCSK6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LINC02348, LOC121847966
+15 more
Copy number gain
See cases
GLikely benign
PCSK6
Copy number loss
See cases
GBenign
PCSK6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PCSK6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LINC02348, LOC126862256
+3 more
Copy number gain
See cases
GLikely benign
LINC02348, LOC126862257
+7 more
Copy number gain
See cases
GBenign
PCSK6
(P64fs)
Microsatellite
(frameshift variant)
not provided
GBenign
PCSK6
Microsatellite
(inframe_insertion)
not provided
GLikely benign
PCSK6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PCSK6
(P3L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAMTS17, ALDH1A3
+19 more
Copy number loss
not provided
GPathogenic
ADAMTS17, ALDH1A3
+23 more
Copy number gain
not specified
GPathogenic
ADAMTS17, ALDH1A3
+19 more
Copy number loss
not specified
GPathogenic
OR4F15, OR4F6
+3 more
Copy number loss
not provided
GUncertain significance
ADAMTS17, ALDH1A3
+19 more
Deletion
not provided
GPathogenic
ABHD17C, ABHD2
+174 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+86 more
Copy number gain
not provided
GPathogenic
ABHD17C, ABHD2
+139 more
Copy number gain
not provided
GPathogenic
ADAMTS17, ALDH1A3
+19 more
Copy number loss
not specified
GPathogenic
ADAMTS17, ALDH1A3
+21 more
Copy number loss
not specified
GPathogenic
ADAMTS17, ALDH1A3
+21 more
Copy number loss
not specified
GPathogenic
PCSK6, SNRPA1
Copy number loss
not provided
GUncertain significance
CHSY1, OR4F15
+6 more
Copy number gain
not provided
GUncertain significance
CHSY1, OR4F15
+6 more
Copy number gain
not provided
GLikely benign
PCSK6, TARS3
+1 more
Copy number gain
not provided
GLikely benign
ADAMTS17, ALDH1A3
+29 more
Copy number loss
not provided
GPathogenic
ABHD2, ACAN
+77 more
Copy number loss
See cases
GPathogenic
ASB7, CERS3
+12 more
Copy number loss
not provided
GUncertain significance
TARS3, PCSK6
+4 more
Copy number gain
not provided
GLikely benign
TM2D3, PCSK6
Copy number gain
not provided
GLikely benign
ALDH1A3, SYNM
+19 more
Copy number loss
not provided
GPathogenic
PCSK6, SNRPA1
Copy number loss
not provided
GLikely benign
OR4F15, PGPEP1L
+19 more
Copy number loss
not provided
GPathogenic
SYNM, CHSY1
+19 more
Copy number loss
not provided
GPathogenic
ABHD2, ACAN
+76 more
Copy number loss
not provided
GPathogenic
OR4F6, PCSK6
+22 more
Copy number loss
Chromosome 15q26-qter deletion syndrome
GPathogenic
CHSY1, PCSK6
+2 more
Copy number gain
not provided
GUncertain significance
CHSY1, PCSK6
+4 more
Copy number gain
not provided
GUncertain significance
ADAMTS17, ALDH1A3
+54 more
Copy number gain
not provided
GPathogenic
ADAMTS17, ALDH1A3
+22 more
Copy number loss
not provided
GPathogenic
PCSK6, TARS3
+1 more
Copy number loss
not provided
GLikely benign
SNRPA1, TM2D3
+6 more
Copy number gain
not provided
GLikely benign
LRRK1, SNRPA1
+3 more
Copy number gain
not provided
GLikely benign
SELENOS, TM2D3
+12 more
Copy number loss
not provided
GUncertain significance
OR4F6, MEF2A
+14 more
Copy number gain
not provided
GLikely pathogenic
ABHD2, ADAMTS17
+66 more
Copy number gain
not provided
GPathogenic
ABHD17C, ABHD2
+143 more
Copy number gain
not provided
GPathogenic
ABHD17C, ABHD2
+215 more
Copy number gain
not provided
GPathogenic
PDIA3, PEAK1
+521 more
Duplication
not provided
GPathogenic
ADAMTS17, ALDH1A3
+26 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+19 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+21 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+18 more
Copy number loss
See cases
GPathogenic
CHSY1, LRRK1
+5 more
Copy number gain
See cases
GUncertain significance
ABHD17C, ABHD2
+153 more
Copy number gain
See cases
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
NOX5, NPAP1
+559 more
Copy number gain
See cases
GPathogenic
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