U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 89

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057927, LOC130057928
+1764 more
Copy number gain
See cases
GPathogenic
ACSBG1, ADPGK
+487 more
Copy number loss
See cases
GPathogenic
LOC116268473, LOC116268474
+1244 more
Copy number gain
See cases
GPathogenic
ADPGK, ADPGK-AS1
+204 more
Copy number gain
See cases
GPathogenic
LOC130057525, LOC130057526
+205 more
Duplication
Schizophrenia
GLikely pathogenic
LOC130057584, LOC130057585
+202 more
Copy number loss
See cases
GPathogenic
ADPGK, ADPGK-AS1
+195 more
Copy number loss
See cases
GLikely pathogenic
ADPGK, ADPGK-AS1
+236 more
Copy number loss
See cases
GPathogenic
LOC130057567, LOC130057568
+243 more
Copy number loss
See cases
GPathogenic
MIR6882, MPI
+258 more
Duplication
Schizophrenia
GLikely pathogenic
ULK3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ULK3
(S473L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(R333H +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ULK3
(M329V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(K445E +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ULK3
(R434Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(P429S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(E417D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(H288D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(A282V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(S244F +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(L239R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(N235H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(E342K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(R351W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(D310Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(A169V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ULK3
(G282E +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(H157N +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(Q262R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(R140C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(R255Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(R119G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(V230I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(E223D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(S230L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ULK3
(R76H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(R204C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(A192T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(R199W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
(L178V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ULK3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ULK3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MIR6882, ULK3
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
ULK3
(R115C +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ULK3
(A125V +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ULK3
(R101H)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
ULK3
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ULK3
(N97S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ULK3
(S95N +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ULK3
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ULK3
(T27M)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ULK3
(A26T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ULK3
(P8L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ULK3
(P8S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ULK3
(G7D)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ADPGK, ARID3B
+29 more
Deletion
Brugada syndrome 8
GUncertain significance
ARID3B, C15orf39
+47 more
Deletion
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
GUncertain significance
ARID3B, CLK3
+14 more
Copy number gain
not specified
GUncertain significance
ADPGK, ARID3B
+48 more
Copy number loss
Chromosome 15q24 deletion syndrome
GPathogenic
AAGAB, ABHD17C
+209 more
Copy number gain
not provided
GPathogenic
ADPGK, ARID3B
+29 more
Duplication
Bardet-Biedl syndrome
GUncertain significance
ARID3B, C15orf39
+48 more
Copy number loss
not provided
GPathogenic
ARID3B, C15orf39
+34 more
Copy number loss
Hearing impairment
GPathogenic
ADPGK, ARID3B
+41 more
Deletion
not provided
GPathogenic
CGNL1, MAPDA
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
ARID3B, C15orf39
+34 more
Copy number loss
not provided
GPathogenic
CPLX3, COX5A
+8 more
Copy number loss
not provided
GUncertain significance
ADPGK, ARID3B
+37 more
Copy number loss
not provided
GPathogenic
ADPGK, ARID3B
+36 more
Copy number loss
not provided
GPathogenic
ADPGK, ARID3B
+47 more
Copy number gain
not provided
GPathogenic
ADPGK, ARID3B
+36 more
Copy number loss
not provided
GPathogenic
SCAMP2, ULK3
+17 more
Copy number loss
not provided
GPathogenic
ADPGK, ARID3B
+48 more
Copy number loss
not provided
GPathogenic
ABHD17C, ABHD2
+215 more
Copy number gain
not provided
GPathogenic
ADPGK, ARID3B
+37 more
Deletion
not provided
GPathogenic
PDIA3, PEAK1
+521 more
Duplication
not provided
GPathogenic
ADPGK, ARID3B
+37 more
Copy number loss
See cases
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
NOX5, NPAP1
+559 more
Copy number gain
See cases
GPathogenic
ADPGK, STOML1
+48 more
Copy number loss
not provided
Gnot provided
CHRFAM7A, CHRM5
+566 more
Copy number gain
See cases
GPathogenic
ALDH1A2, ALDH1A3
+444 more
Copy number gain
See cases
GPathogenic
WHAMM, CCNB2
+308 more
Copy number gain
not provided
GLikely pathogenic
ARID3B, C15orf39
+49 more
Copy number gain
See cases
GUncertain significance
ADPGK, ARID3B
+47 more
Copy number gain
See cases
GPathogenic
ADPGK, ARID3B
+37 more
Copy number loss
See cases
GPathogenic
AAGAB, ABHD17C
+278 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination