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Items: 60

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
LINC02811, LITATS1
+1147 more
Copy number gain
See cases
GPathogenic
LOC133206433, RHD
+1 more
Deletion
RHD DEL
GPathogenic
LOC122056798, LOC129388471
+12 more
Copy number loss
See cases
GUncertain significance
LOC133206433, LOC133206434
+5 more
Deletion
RHD-NEGATIVE POLYMORPHISM
GBenign
LOC133206434, RHD
+1 more
Deletion
Normal pregnancy
+1 more
Gnot provided
RHD, RSRP1
Copy number loss
See cases
GBenign
RHD, RSRP1
(L62F)
Single nucleotide variant
(missense variant +2 more)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
RHD, RSRP1
(A85V)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
RHD, RSRP1
(W90C)
Single nucleotide variant
(missense variant +2 more)
Weakened expression of D antigen
GAffects
RHD, RSRP1
(L93G)
Indel
(missense variant +2 more)
weakened D expression by serology
GAffects
RSRP1, RHD
(L110P)
Single nucleotide variant
(missense variant +2 more)
RhD category D-VII
GPathogenic
RHD, RSRP1
(R114P)
Single nucleotide variant
(missense variant +2 more)
weakened D expression by serology
GAffects
RHD, RSRP1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
RHD, RSRP1
(A137V)
Single nucleotide variant
(missense variant +2 more)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
RSRP1, RHD
(G151D)
Single nucleotide variant
(missense variant +2 more)
Blood group antigen abnormality
GAffects
RHD, RSRP1
(N152T)
Single nucleotide variant
(missense variant +2 more)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
RSRP1, RHD
Single nucleotide variant
(intron variant)
not provided
GBenign
RHD, RSRP1
(M170T +1 more)
Single nucleotide variant
(missense variant +1 more)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
RHD, RSRP1
(L15V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RHD, RSRP1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
RHD, RSRP1
(D31A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RHD, RSRP1
(T201R +1 more)
Single nucleotide variant
(missense variant +1 more)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
RHD, RSRP1
(A202T +1 more)
Single nucleotide variant
(missense variant +1 more)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
RHD, RSRP1
(T203M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RHD, RSRP1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
RHD, RSRP1
(I204K +1 more)
Single nucleotide variant
(missense variant +1 more)
serologic weak D phenotype
GAffects
RHD, RSRP1
(F223V +5 more)
Single nucleotide variant
(missense variant +2 more)
Partial RhD
Gnot provided
RHD, RSRP1
(F223V +4 more)
Single nucleotide variant
(missense variant +2 more)
Partial RhD
Gnot provided
RHD, RSRP1
(F223V +1 more)
Single nucleotide variant
(missense variant +1 more)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
RHD, RSRP1
(N224T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RHD, RSRP1
(E233Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
RHD, RSRP1
(A237T +1 more)
Single nucleotide variant
(missense variant +1 more)
weakened D expression by serology
GAffects
RHD, RSRP1
(V245L +8 more)
Single nucleotide variant
(missense variant +2 more)
altered RHD phenotype
GAffects
RHD, RSRP1
(V245L +1 more)
Single nucleotide variant
(missense variant +1 more)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
RHD, RSRP1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
RHD, RSRP1
(Q262R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
RHD, RSRP1
(I99M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RHD, RSRP1
(V270G +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Rhd, weak d, type I
GPathogenic
RHD, RSRP1
(G116D +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely benign
RHD, RSRP1
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely benign
RHD, RSRP1
(I156S +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
RHD, RSRP1
(I342T +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
RHD, RSRP1
(D184H +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GBenign
RHD, RSRP1
(G355S +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Anti-D isoimmunization affecting pregnancy
+1 more
Grisk factor
RHD, RSRP1
(G355S +7 more)
Single nucleotide variant
(non-coding transcript variant +3 more)
Weak RhD expression
Gnot provided
LDLRAP1, LOC122056798
+30 more
Duplication
9q34 microduplication syndrome
GLikely benign
RHD, RSRP1
(A233T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
RHD, RSRP1
(K243E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
LOC133206434, RHD
+1 more
Deletion
(intron variant)
RhD negative
GPathogenic
RSRP1, LOC133206434
+1 more
Deletion
RHD DEL
GPathogenic
RHCE, RHD
(A373T +2 more)
Single nucleotide variant
(missense variant +1 more)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
RHCE, RHD
+1 more
(A373T +10 more)
Single nucleotide variant
(missense variant +2 more)
Weak RhD expression
Gnot provided
AUNIP, LDLRAP1
+11 more
Copy number loss
not provided
GUncertain significance
RHCE, RHD
+3 more
Copy number gain
not provided
GUncertain significance
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
RHD, TMEM50A
+2 more
Copy number gain
not provided
GLikely benign
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
RHCE, RHD
+1 more
Copy number gain
See cases
GBenign
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