U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 79

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADTRP, ATXN1
+825 more
Copy number gain
See cases
GPathogenic
BPHL, C6orf201
+260 more
Copy number loss
See cases
GPathogenic
LINC02521, LINC02525
+281 more
Copy number gain
See cases
GPathogenic
LOC129995681, LOC129995682
+643 more
Copy number gain
See cases
GPathogenic
BPHL, C6orf201
+314 more
Copy number loss
See cases
GPathogenic
LOC129995664, LOC129995665
+309 more
Copy number loss
See cases
GPathogenic
BPHL, C6orf201
+309 more
Copy number gain
See cases
GLikely pathogenic
BPHL, C6orf201
+289 more
Copy number loss
See cases
GPathogenic
ADTRP, ATXN1
+779 more
Copy number gain
See cases
GPathogenic
ADTRP, BLOC1S5
+612 more
Copy number loss
See cases
GPathogenic
LOC129995778, LOC129995779
+559 more
Copy number gain
See cases
GLikely pathogenic
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
LOC129995586, LOC129995587
+257 more
Copy number gain
See cases
GUncertain significance
LOC123575648, LOC123575649
+257 more
Copy number loss
See cases
GPathogenic
BPHL, C6orf201
+347 more
Copy number loss
See cases
GPathogenic
SLC35B3, SMIM13
+510 more
Copy number gain
See cases
GLikely pathogenic
BPHL, DUSP22
+213 more
Copy number loss
See cases
GPathogenic
BLOC1S5, BLOC1S5-TXNDC5
+437 more
Copy number gain
See cases
GPathogenic
LOC129389433, LOC129995519
+303 more
Copy number loss
See cases
GPathogenic
LOC129995673, LOC129995674
+307 more
Copy number loss
See cases
GPathogenic
LOC129995802, LOC129995803
+573 more
Copy number gain
See cases
GPathogenic
BPHL, C6orf201
+302 more
Copy number loss
See cases
GPathogenic
BPHL, C6orf201
+312 more
Copy number loss
See cases
GPathogenic
LOC123575663, LOC123575664
+433 more
Copy number loss
See cases
GPathogenic
ADTRP, BLOC1S5
+537 more
Copy number gain
See cases
GPathogenic
BPHL, C6orf201
+140 more
Inversion
Anophthalmia-microphthalmia syndrome
GLikely pathogenic
BPHL, GMDS-DT
+76 more
Copy number gain
See cases
GUncertain significance
ADTRP, ATXN1
+617 more
Copy number loss
See cases
GPathogenic
NQO2
(L7P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NQO2
(Y10C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NQO2
(K16R)
Single nucleotide variant
(missense variant)
Ovarian cancer
GBenign
NQO2
(N19I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NQO2
(G20R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NQO2
Single nucleotide variant
(intron variant)
not provided
GBenign
NQO2
(N62D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NQO2
(E74K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NQO2
(K77M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NQO2
(D84Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NQO2
(R93W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NQO2
(D134N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NQO2
(G136S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NQO2
(G102D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NQO2
(V109I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NQO2
(N124D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NQO2
(F130C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NQO2
(S152N +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
NQO2
(W216G +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NQO2
(H226Q +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NQO2
(H190R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NQO2
(G230R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NQO2, RIPK1
+3 more
Duplication
not provided
GUncertain significance
BPHL, C6orf201
+25 more
Copy number loss
not specified
GPathogenic
BPHL, DUSP22
+16 more
Copy number gain
not specified
GPathogenic
ADTRP, BLOC1S5
+73 more
Copy number gain
not provided
GPathogenic
BPHL, EXOC2
+19 more
Copy number loss
not provided
GPathogenic
BPHL, NQO2
+6 more
Deletion
not provided
GUncertain significance
ADTRP, ATXN1
+89 more
Copy number gain
See cases
GPathogenic
BPHL, DUSP22
+19 more
Copy number loss
not provided
GPathogenic
BPHL, EXOC2
+18 more
Copy number loss
Axenfeld-Rieger syndrome type 3
GPathogenic
BPHL, EXOC2
+20 more
Copy number loss
not specified
GPathogenic
BPHL, DUSP22
+21 more
Copy number gain
not provided
GPathogenic
BPHL, NQO2
+6 more
Duplication
not provided
GUncertain significance
TUBB2A, DUSP22
+19 more
Copy number gain
not provided
GPathogenic
ADTRP, ATXN1
+95 more
Copy number gain
not provided
GPathogenic
BLOC1S5, BMP6
+38 more
Copy number gain
not provided
GLikely pathogenic
ADTRP, ATXN1
+93 more
Copy number gain
not provided
GPathogenic
ADTRP, BLOC1S5
+66 more
Copy number gain
not provided
GPathogenic
HUS1B, SERPINB6
+19 more
Copy number loss
not provided
GPathogenic
ADTRP, ATXN1
+95 more
Duplication
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
BPHL, C6orf201
+24 more
Copy number loss
See cases
GPathogenic
BPHL, C6orf201
+33 more
Copy number loss
See cases
GPathogenic
PXDC1, RIPK1
+24 more
Copy number loss
See cases
GPathogenic
GMDS, LINC01600
+6 more
Copy number gain
See cases
GLikely benign
STMND1, SYCP2L
+95 more
Copy number gain
See cases
GPathogenic
BLOC1S5, BMP6
+60 more
Copy number loss
See cases
GPathogenic
PPP1R3G, BPHL
+33 more
Copy number loss
See cases
GPathogenic
GMDS, DUSP22
+16 more
Copy number gain
Brachydactyly type E1
GPathogenic
Format
Items per page
Sort by
Choose Destination