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Items: 1 to 100 of 120

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSPG2, LDLRAD2
(P4370R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HSPG2, LDLRAD2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
LDLRAD2, HSPG2
(G4345R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
HSPG2, LDLRAD2
(V4340M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
HSPG2, LDLRAD2
(A4328T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GBenign/Likely benign
HSPG2, LDLRAD2
(E4292K +1 more)
Single nucleotide variant
(missense variant +1 more)
HSPG2-related condition
+3 more
GConflicting classifications of pathogenicity
HSPG2, LDLRAD2
(R4281H +1 more)
Single nucleotide variant
(missense variant +1 more)
HSPG2-related condition
+3 more
GBenign/Likely benign
HSPG2
(D4187N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPG2
(Y4125H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPG2
Single nucleotide variant
(synonymous variant)
Lethal Kniest-like syndrome
+3 more
GConflicting classifications of pathogenicity
HSPG2
(L4002V +1 more)
Single nucleotide variant
(missense variant)
HSPG2-related condition
+4 more
GBenign/Likely benign
HSPG2
(A3961T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HSPG2
(V3955L +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
HSPG2
(C3921del +1 more)
Deletion
(inframe_deletion)
not provided
GUncertain significance
HSPG2
(R3906Q +1 more)
Single nucleotide variant
(missense variant)
HSPG2-related condition
+3 more
GBenign/Likely benign
HSPG2
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+4 more
GConflicting classifications of pathogenicity
HSPG2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
HSPG2
(S3765N +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
HSPG2
Single nucleotide variant
(intron variant)
Schwartz-Jampel syndrome
+2 more
GConflicting classifications of pathogenicity
HSPG2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
HSPG2
(T3691I +1 more)
Single nucleotide variant
(missense variant)
HSPG2-related condition
+4 more
GConflicting classifications of pathogenicity
HSPG2
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
HSPG2
(R3646H +1 more)
Single nucleotide variant
(missense variant)
HSPG2-related condition
+4 more
GBenign/Likely benign
HSPG2
(R3632* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
HSPG2
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+5 more
GBenign/Likely benign
HSPG2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HSPG2
(V3500M +1 more)
Single nucleotide variant
(missense variant)
HSPG2-related condition
+6 more
GBenign/Likely benign
HSPG2
(A3396V +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
HSPG2
(V3382I +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+2 more
GUncertain significance
HSPG2
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+2 more
GBenign/Likely benign
HSPG2
(R3232H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HSPG2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
HSPG2
Single nucleotide variant
(intron variant)
Connective tissue disorder
+2 more
GBenign/Likely benign
HSPG2
(P3111H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPG2
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
HSPG2
(V3092M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPG2
(V3079M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HSPG2
(D3027N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HSPG2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
HSPG2
(V2981I +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
HSPG2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HSPG2
(A2967T +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
HSPG2
(R2870W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPG2
(A2869P +1 more)
Single nucleotide variant
(missense variant)
HSPG2-related condition
+3 more
GConflicting classifications of pathogenicity
HSPG2
(K2862N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPG2
(V2849L +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign/Likely benign
HSPG2
Single nucleotide variant
(synonymous variant)
Lethal Kniest-like syndrome
+2 more
GUncertain significance
HSPG2
(R2779Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
HSPG2
(R2763H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
HSPG2
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
HSPG2
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
HSPG2
(R2682W +1 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+5 more
GBenign/Likely benign
HSPG2
(R2609Q +1 more)
Single nucleotide variant
(missense variant)
HSPG2-related condition
+3 more
GConflicting classifications of pathogenicity
HSPG2
(R2480W +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HSPG2
(S2446L +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
HSPG2
(S2412N +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome
+2 more
GConflicting classifications of pathogenicity
HSPG2
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+4 more
GConflicting classifications of pathogenicity
HSPG2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
HSPG2
(R2312Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HSPG2, LOC126805655
(A2181T +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
HSPG2, LOC126805655
(H2162Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPG2
Single nucleotide variant
(synonymous variant)
Schwartz-Jampel syndrome
+4 more
GBenign
HSPG2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
HSPG2
(A2020T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPG2
(R2004H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPG2
Single nucleotide variant
(synonymous variant)
HSPG2-related condition
+1 more
GConflicting classifications of pathogenicity
HSPG2
(R1919C +1 more)
Single nucleotide variant
(missense variant)
HSPG2-related condition
+6 more
GBenign/Likely benign
HSPG2
(G1904S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPG2
Single nucleotide variant
(intron variant)
Connective tissue disorder
+4 more
GBenign
HSPG2
(A1883V +1 more)
Single nucleotide variant
(missense variant)
HSPG2-related condition
+4 more
GConflicting classifications of pathogenicity
HSPG2
Single nucleotide variant
(synonymous variant)
HSPG2-related condition
+2 more
GBenign/Likely benign
HSPG2
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
HSPG2
(R1779W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HSPG2
(R1716W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPG2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HSPG2
Single nucleotide variant
(synonymous variant)
Schwartz-Jampel syndrome
+4 more
GConflicting classifications of pathogenicity
HSPG2
(P1643H +1 more)
Single nucleotide variant
(missense variant)
HSPG2-related condition
+2 more
GConflicting classifications of pathogenicity
HSPG2
(E1642K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPG2
(T1639M +1 more)
Single nucleotide variant
(missense variant)
HSPG2-related condition
+4 more
GConflicting classifications of pathogenicity
HSPG2
(R1626H +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
HSPG2
Deletion
(intron variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
HSPG2
(P1534R +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+5 more
GConflicting classifications of pathogenicity
HSPG2
(A1503V +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
HSPG2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
HSPG2
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
HSPG2
(I1442V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPG2
(G1412S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPG2
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+4 more
GConflicting classifications of pathogenicity
HSPG2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
HSPG2
(Q1298H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSPG2
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
HSPG2
(A1236E +1 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+4 more
GConflicting classifications of pathogenicity
HSPG2
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
HSPG2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
HSPG2
(R1090Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
HSPG2
(P1019L +1 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+3 more
GBenign/Likely benign
HSPG2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
HSPG2
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
HSPG2
(G909S +1 more)
Single nucleotide variant
(missense variant)
HSPG2-related condition
+5 more
GUncertain significance
HSPG2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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