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Items: 79

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130059125, LOC130059126
+675 more
Copy number gain
See cases
GPathogenic
MIR138-2, MIR140
+1738 more
Copy number gain
See cases
GPathogenic
LOC130059330, LOC130059331
+599 more
Copy number gain
See cases
GPathogenic
LOC130059197, LOC130059198
+575 more
Copy number gain
See cases
GPathogenic
ACD, AGRP
+176 more
Copy number loss
See cases
GPathogenic
AARS1, ACD
+939 more
Copy number gain
See cases
GPathogenic
ACD, AGRP
+217 more
Copy number loss
See cases
GPathogenic
LOC130059829, LOC130059830
+1429 more
Copy number gain
See cases
GPathogenic
LOC108281164, LOC109029536
+1426 more
Copy number gain
See cases
GPathogenic
LOC130059834, LOC130059835
+1424 more
Copy number gain
See cases
GPathogenic
LOC130059420, LOC130059421
+869 more
Copy number gain
See cases
GPathogenic
ATP6V0D1, B3GNT9
+113 more
Copy number loss
See cases
GPathogenic
BEAN1, CDH5
+2 more
Copy number gain
See cases
GLikely benign
BEAN1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
BEAN1
Single nucleotide variant
(intron variant)
not provided
GBenign
BEAN1
Single nucleotide variant
(intron variant)
not provided
GBenign
BEAN1
(H30Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Spinocerebellar ataxia type 31
GBenign
BEAN1
(I43V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
BEAN1
(R60C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
BEAN1
(R63M)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
BEAN1
(R66Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
BEAN1
(R69Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
BEAN1
(R71C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
BEAN1
(R71S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
BEAN1
(R71H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
BEAN1, BEAN1-AS1
Microsatellite
(5 prime UTR variant)
not provided
GBenign
BEAN1
(R73C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
BEAN1, BEAN1-AS1
(R76S)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GBenign
BEAN1, BEAN1-AS1
(R85H)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
BEAN1, BEAN1-AS1
(R87C)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
BEAN1, BEAN1-AS1
(R87H)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
BEAN1, BEAN1-AS1
(R90Q)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
BEAN1, BEAN1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
BEAN1-related disorder
GBenign
BEAN1
(R105H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
BEAN1
(R108H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
BEAN1
(R2C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BEAN1
(E9K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BEAN1
(P123H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BEAN1
(E40K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BEAN1
(A47S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BEAN1
(D55G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BEAN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
BEAN1
(Y169C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BEAN1
(G78S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
BEAN1
(L213P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BEAN1
(P105S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
BEAN1
(P106R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BEAN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
BEAN1
Single nucleotide variant
(synonymous variant +1 more)
BEAN1-related disorder
GLikely benign
BEAN1
(P232T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BEAN1
(P123L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BEAN1
(A250P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BEAN1
(R71H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BEAN1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
BEAN1
Single nucleotide variant
(3 prime UTR variant)
BEAN1-related disorder
GLikely benign
BEAN1
Single nucleotide variant
(3 prime UTR variant)
BEAN1-related disorder
GBenign
BEAN1
Single nucleotide variant
(3 prime UTR variant)
BEAN1-related disorder
GLikely benign
BEAN1
Single nucleotide variant
(3 prime UTR variant)
BEAN1-related disorder
GLikely benign
PRMT7, PRSS54
+195 more
Duplication
Chromosome 16q12 duplication syndrome
GLikely pathogenic
ADGRG1, ADGRG3
+85 more
Copy number loss
not specified
GPathogenic
B3GNT9, BEAN1
+30 more
Copy number gain
not provided
GUncertain significance
B3GNT9, BEAN1
+25 more
Deletion
not provided
GPathogenic
CYB5B, DDX19A
+127 more
Deletion
Dyskeratosis congenita, autosomal dominant 6
GUncertain significance
AARS1, ABCC11
+368 more
Copy number gain
not provided
GPathogenic
AARS1, ACD
+268 more
Copy number gain
not provided
Gnot provided
EXOC3L1, ESRP2
+95 more
Copy number loss
not provided
GPathogenic
CKLF-CMTM1, CMTM4
+10 more
Copy number gain
not provided
GUncertain significance
AARS1, ACD
+194 more
Copy number gain
not provided
GPathogenic
CA7, COG8
+368 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
KCTD19, KIAA0513
+368 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
CBLN1, CCDC102A
+591 more
Copy number gain
See cases
GUncertain significance
AARS1, ABAT
+811 more
Copy number gain
See cases
GPathogenic
CCL22, CCNF
+811 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+292 more
Copy number gain
See cases
GPathogenic
ABCC6, BCL7C
+811 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+174 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
ATXN1L, B3GNT9
+368 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
ADGRG5, CFAP263
+324 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
BEAN1
Insertion
Spinocerebellar ataxia type 31
GPathogenic
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