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Items: 1 to 100 of 335

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861648, LOC126861649
+4836 more
Copy number gain
See cases
GPathogenic
AGAP2, AGAP2-AS1
+199 more
Copy number loss
See cases
GPathogenic
AGAP2, AGAP2-AS1
+162 more
Copy number loss
See cases
GPathogenic
LRP1
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
LRP1
Single nucleotide variant
(intron variant)
not provided
GBenign
LRP1
(R46Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
(P54S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
(G56R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRP1
Single nucleotide variant
(intron variant)
not provided
GBenign
LRP1
Single nucleotide variant
(intron variant)
not provided
GBenign
LRP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRP1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
LRP1, LRP1-AS
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LRP1, LRP1-AS
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LRP1, LRP1-AS
(T212M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1, LRP1-AS
Single nucleotide variant
(missense variant)
Developmental dysplasia of the hip 3
GPathogenic
LRP1-AS, LRP1
(A238V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1, LRP1-AS
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LRP1-AS, LRP1
(D269N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1-AS, LRP1
(H280Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRP1
(A333S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
(R358C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRP1
(G400S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LRP1
(H412Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
LRP1
(N497S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
(R507H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRP1
(L526V)
Single nucleotide variant
(missense variant)
Tricuspid atresia
+1 more
GUncertain significance
LRP1
(T570P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
(G571S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
(R585H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
(R639C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
(R675Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
(D690G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
(R712H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRP1
Single nucleotide variant
(intron variant)
not provided
GBenign
LRP1
Single nucleotide variant
(intron variant)
not provided
GBenign
LRP1
(Y754F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
LRP1
(R770Q)
Single nucleotide variant
(missense variant)
Malignant tumor of prostate
GUncertain significance
LRP1
(V772I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
LRP1
(A775P)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LRP1
(T780I)
Single nucleotide variant
(missense variant)
not provided
GBenign
LRP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRP1
Single nucleotide variant
(intron variant)
not provided
GBenign
LRP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRP1
Single nucleotide variant
(intron variant)
Developmental dysplasia of the hip 3
GPathogenic
LRP1
(T935P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
(P938S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRP1
(S970L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
Single nucleotide variant
(intron variant)
not provided
GBenign
LRP1
Single nucleotide variant
(intron variant)
not provided
GBenign
LRP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LRP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRP1
(P1029S)
Single nucleotide variant
(missense variant)
LRP1-related condition
GUncertain significance
LRP1
Deletion
(intron variant)
not provided
GBenign
LRP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LRP1
Single nucleotide variant
(intron variant)
not provided
GBenign
LRP1
(N1129S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
LRP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LRP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRP1
(E1141D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
(S1149L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
(N1154S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LRP1
(G1175S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LRP1
Single nucleotide variant
(intron variant)
not provided
GBenign
LRP1
(G1215R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
(G1215E)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LRP1
(K1245R)
Single nucleotide variant
(missense variant)
Keratosis pilaris
GPathogenic
LRP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LRP1
(E1259K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LRP1
Single nucleotide variant
(intron variant)
Keratosis pilaris
+1 more
GBenign
LRP1
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC126861539, LRP1
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC126861539, LRP1
(G1356D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126861539, LRP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LOC126861539, LRP1
(N1437S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126861539, LRP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LRP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRP1
(S1479L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LRP1
(R1559Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
(L1598P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
(L1620I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
(R1625C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
LRP1
(V1653I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP1
Single nucleotide variant
(splice donor variant)
Global developmental delay
GLikely pathogenic
LRP1
(N1685S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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