U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 120

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129390180, LOC129390181
+1008 more
Copy number gain
See cases
GPathogenic
ADIRF, ADIRF-AS1
+174 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+178 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+166 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+178 more
Copy number loss
See cases
GPathogenic
FAM25A, GHITM
+168 more
Copy number loss
See cases
GPathogenic
SHLD2, SNCG
+168 more
Copy number gain
See cases
GPathogenic
ADIRF, ADIRF-AS1
+163 more
Copy number loss
See cases
GPathogenic
LOC130004227, LOC130004228
+168 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+175 more
Copy number loss
See cases
GPathogenic
ANXA11, BMPR1A
+150 more
Copy number loss
See cases
GPathogenic
LINC00857, LINC00858
+147 more
Copy number loss
See cases
GPathogenic
LOC126860983, LOC129390210
+2 more
Copy number gain
See cases
GLikely benign
NRG3
(T25S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NRG3
(A29E)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NRG3
(P49S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NRG3
(E51V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NRG3
(V59M)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NRG3
(K95R)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NRG3
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
NRG3
(D104G)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NRG3
(M108R)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NRG3
(T131S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NRG3
(I175M)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NRG3
(A177G)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NRG3
(A184V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NRG3
(R185G)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NRG3
(P210S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NRG3
(V212L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NRG3
(G214E)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NRG3
(M221V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NRG3
(A230S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NRG3
(T231A)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NRG3
(Y234F)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NRG3
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
NRG3
(P240A)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NRG3
(H17Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRG3
(T20R)
Single nucleotide variant
(missense variant +2 more)
Aganglionic megacolon
GUncertain significance
LINC02650, LOC105378396
+5 more
Copy number gain
See cases
GUncertain significance
LINC02650, LOC105378396
+5 more
Copy number gain
See cases
GUncertain significance
NRG3
Deletion
Preeclampsia
+1 more
Gnot provided
NRG3
Copy number loss
See cases
GLikely benign
NRG3
Copy number loss
See cases
GUncertain significance
NRG3
(T56A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRG3
(S280F +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRG3
(G113A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRG3
(E87K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRG3
Copy number loss
See cases
GBenign
LOC105378396, LOC121366067
+2 more
Copy number gain
See cases
GUncertain significance
NRG3
(S119L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
NRG3
Copy number loss
See cases
GLikely benign
CCSER2, CDHR1
+30 more
Copy number gain
See cases
GUncertain significance
NRG3
Copy number gain
See cases
GUncertain significance
NRG3
(R359K +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRG3
(I150T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRG3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NRG3
(Q170E +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
NRG3
(R213K +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRG3
(S283R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
NRG3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
NRG3
(P497S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRG3
(R278L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRG3
(R498Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRG3
(Q290L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRG3
(E293K +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRG3
(S370L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRG3
(L385S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRG3
Single nucleotide variant
(synonymous variant +1 more)
Aganglionic megacolon
GUncertain significance
NRG3
(V420I +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
NRG3
(Q625K +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRG3
(E651K +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
NRG3
(V655I +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRG3
(T681A +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRG3
Single nucleotide variant
(synonymous variant +1 more)
Aganglionic megacolon
GUncertain significance
NRG3
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
NRG3
(R677Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NRG3
Copy number loss
not provided
GUncertain significance
NRG3
Copy number gain
not provided
GUncertain significance
RRP12, RTKN2
+332 more
Copy number gain
not provided
GPathogenic
ADIRF, ADIRF-AS1
+33 more
Copy number gain
See cases
GPathogenic
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ACTA2, ADIRF
+56 more
Copy number loss
not provided
GPathogenic
ACTA2, ADIRF
+50 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+32 more
Copy number loss
Chromosome 10q23 deletion syndrome
GPathogenic
NRG3
Copy number gain
not provided
GUncertain significance
NRG3
Copy number loss
not provided
GLikely benign
NRG3
Copy number loss
not provided
GUncertain significance
NRG3
Copy number gain
not provided
GLikely benign
ANXA11, DYDC1
+9 more
Copy number loss
not provided
GUncertain significance
BMPR1A, CCSER2
+33 more
Deletion
not provided
GPathogenic
NRG3
Copy number loss
not provided
GUncertain significance
NRG3
Copy number loss
not provided
GUncertain significance
DYDC1, DYDC2
+34 more
Copy number loss
not provided
GPathogenic
ADIRF, ADIRF-AS1
+33 more
Copy number loss
not provided
GPathogenic
NRG3
Copy number gain
not provided
GUncertain significance
ADIRF, ADIRF-AS1
+32 more
Copy number loss
not provided
GPathogenic
NRG3
Copy number gain
not provided
GUncertain significance
NRG3
Copy number gain
not provided
GUncertain significance
NRG3
Copy number loss
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination