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 694

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARSD1, AATF
+2032 more
Copy number gain
See cases
GPathogenic
LOC126862582, LOC126862583
+1753 more
Copy number gain
See cases
GPathogenic
ARL5C, CACNB1
+50 more
Copy number gain
See cases
GLikely benign
LOC130060786, LOC130060787
+633 more
Copy number gain
See cases
GPathogenic
ERBB2
(P8T)
Single nucleotide variant
(missense variant +1 more)
not specified
Gnot provided
ERBB2
(L3V)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
ERBB2
(A4S)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
ERBB2
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
ERBB2
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
ERBB2
(A14V)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
ERBB2
(L15F)
Single nucleotide variant
(missense variant +3 more)
not provided
GLikely benign
ERBB2
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
ERBB2
Single nucleotide variant
(synonymous variant +3 more)
not provided
GBenign
ERBB2
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
ERBB2
(A20V)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
ERBB2
(A21G)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
ERBB2
(S22N)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
ERBB2
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
ERBB2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ERBB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBB2
Deletion
(intron variant)
not provided
GBenign
ERBB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBB2
(V10A +1 more)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
ERBB2
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
ERBB2
(T27P +1 more)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
ERBB2
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GLikely benign
ERBB2
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GLikely benign
ERBB2
(M16V +2 more)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
ERBB2
(M1L +2 more)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
ERBB2
(M1I +2 more)
Single nucleotide variant
(missense variant +3 more)
not provided
GLikely benign
ERBB2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
ERBB2
(R19W +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ERBB2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ERBB2
(S23G +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ERBB2
(E40K +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
(T11I +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
(D29V +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
(M15V +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
Gnot provided
ERBB2
(R17H +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
ERBB2
(Q21R +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
(Q42R +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ERBB2
(L50M +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
(T37A +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ERBB2
(N38D +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
(N38S +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
(A54G +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
(Q45* +2 more)
Single nucleotide variant
(nonsense +2 more)
not provided
GUncertain significance
ERBB2
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ERBB2
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ERBB2
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ERBB2
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ERBB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBB2
(Q78R +2 more)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
ERBB2
(E49A +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
ERBB2
(V84M +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ERBB2
(Q90K +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
(V88L +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ERBB2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ERBB2
(R100W +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
(R100Q +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
(R103* +3 more)
Single nucleotide variant
(nonsense +2 more)
Inborn genetic diseases
GUncertain significance
ERBB2
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely benign
ERBB2
(N108S +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ERBB2
(A100T +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
ERBB2
(P107L +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ERBB2
(N124Y +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
ERBB2
(P98A +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
(P113fs +3 more)
Deletion
(frameshift variant +2 more)
not provided
GUncertain significance
ERBB2
(P128R +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ERBB2
(P104S +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ERBB2
(R113Q +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign/Likely benign
ERBB2
(L115F +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
ERBB2
Single nucleotide variant
(splice donor variant +1 more)
not provided
GUncertain significance
ERBB2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ERBB2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBB2
Single nucleotide variant
(intron variant)
not provided
GBenign
ERBB2
(A168V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ERBB2
(H169Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ERBB2
(G177A +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
(V138L +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
(L139F +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ERBB2
(R127W +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination