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Links from MedGen

Items: 1 to 100 of 524

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSPG2
Single nucleotide variant
(splice donor variant)
Lethal Kniest-like syndrome
GLikely pathogenic
HSPG2
(G3964R +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
GUncertain significance
HSPG2
(R2087* +1 more)
Single nucleotide variant
(nonsense)
Lethal Kniest-like syndrome
GLikely pathogenic
HSPG2
(R1725Q +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome type 1
+1 more
GUncertain significance
HSPG2
Single nucleotide variant
(splice acceptor variant)
Lethal Kniest-like syndrome
GLikely pathogenic
HSPG2
Duplication
(inframe_insertion)
Lethal Kniest-like syndrome
+2 more
GUncertain significance
HSPG2, LOC126805655
Single nucleotide variant
(intron variant)
Lethal Kniest-like syndrome
+2 more
GUncertain significance
HSPG2
(K2054R +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+2 more
GUncertain significance
HSPG2
(A2401T +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+3 more
GUncertain significance
HSPG2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
HSPG2
(V635M +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
HSPG2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
HSPG2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
HSPG2
Deletion
(intron variant)
Schwartz-Jampel syndrome type 1
+2 more
GBenign
HSPG2
Single nucleotide variant
(intron variant)
Lethal Kniest-like syndrome
+2 more
GBenign
HSPG2
Single nucleotide variant
(intron variant)
Lethal Kniest-like syndrome
+2 more
GBenign
HSPG2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
HSPG2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
HSPG2
Single nucleotide variant
(intron variant)
Lethal Kniest-like syndrome
+2 more
GBenign
HSPG2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
HSPG2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
HSPG2
Single nucleotide variant
(intron variant)
Lethal Kniest-like syndrome
+2 more
GBenign
HSPG2
(G1173fs +1 more)
Deletion
(frameshift variant)
Lethal Kniest-like syndrome
GPathogenic
HSPG2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
HSPG2
(S71N)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+1 more
GUncertain significance
HSPG2
(P3576fs +1 more)
Duplication
(frameshift variant)
Lethal Kniest-like syndrome
+1 more
GUncertain significance
HSPG2
Single nucleotide variant
(intron variant)
Lethal Kniest-like syndrome
+1 more
GLikely pathogenic
HSPG2
Single nucleotide variant
(synonymous variant)
Schwartz-Jampel syndrome type 1
+2 more
GUncertain significance
HSPG2
(V1658M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
HSPG2, LDLRAD2
Single nucleotide variant
(3 prime UTR variant +1 more)
Lethal Kniest-like syndrome
GPathogenic
HSPG2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HSPG2
(R1785C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HSPG2
(T556S +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
GUncertain significance
HSPG2, LDLRAD2
(G4318S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
HSPG2
(P2592L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HSPG2
(H1347P +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
GUncertain significance
HSPG2
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
HSPG2
(R4028W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HSPG2
(R615H +1 more)
Single nucleotide variant
(missense variant)
HSPG2-related disorder
+3 more
GConflicting classifications of pathogenicity
HSPG2
(G2475R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HSPG2
(G3324R +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GLikely pathogenic
HSPG2
(E4144K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HSPG2
(P2146fs +1 more)
Deletion
(frameshift variant)
Lethal Kniest-like syndrome
GLikely pathogenic
HSPG2
Single nucleotide variant
(intron variant)
Lethal Kniest-like syndrome
GUncertain significance
HSPG2
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
HSPG2
Single nucleotide variant
(synonymous variant)
Schwartz-Jampel syndrome
+1 more
GUncertain significance
HSPG2
(V2821I +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HSPG2
(T200M)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome
+2 more
GUncertain significance
HSPG2
(R2962H +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome
+1 more
GUncertain significance
HSPG2
(A338T)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome
+1 more
GUncertain significance
HSPG2
(D345N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HSPG2
(V3135D +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome
+2 more
GUncertain significance
HSPG2
(R537W +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome
+1 more
GUncertain significance
HSPG2
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
HSPG2
(G3538R +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+3 more
GConflicting classifications of pathogenicity
HSPG2
(R3693W +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+3 more
GUncertain significance
HSPG2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HSPG2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HSPG2
(V3868M +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+2 more
GUncertain significance
HSPG2
(S1283R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
HSPG2
(R4038L +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+2 more
GConflicting classifications of pathogenicity
HSPG2
(L4048P +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HSPG2
Single nucleotide variant
(synonymous variant)
Schwartz-Jampel syndrome
+1 more
GUncertain significance
HSPG2
Single nucleotide variant
(synonymous variant)
Lethal Kniest-like syndrome
+1 more
GUncertain significance
HSPG2, LDLRAD2
Single nucleotide variant
(synonymous variant +1 more)
Lethal Kniest-like syndrome
+1 more
GUncertain significance
HSPG2
(T1896P +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome
+1 more
GUncertain significance
HSPG2
Single nucleotide variant
(intron variant)
Lethal Kniest-like syndrome
+2 more
GConflicting classifications of pathogenicity
HSPG2, LDLRAD2
Single nucleotide variant
(3 prime UTR variant)
Lethal Kniest-like syndrome
+1 more
GUncertain significance
HSPG2, LDLRAD2
Single nucleotide variant
(3 prime UTR variant)
Lethal Kniest-like syndrome
+1 more
GLikely benign
HSPG2, LDLRAD2
Single nucleotide variant
(3 prime UTR variant)
Lethal Kniest-like syndrome
+1 more
GUncertain significance
HSPG2
(L2024H +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
HSPG2, LDLRAD2
Single nucleotide variant
(3 prime UTR variant)
Lethal Kniest-like syndrome
+1 more
GUncertain significance
HSPG2, LOC126805655
Single nucleotide variant
(synonymous variant)
Lethal Kniest-like syndrome
+3 more
GConflicting classifications of pathogenicity
HSPG2, LOC126805655
(P2211L +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+2 more
GUncertain significance
HSPG2
(R2037Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
HSPG2, LDLRAD2
Single nucleotide variant
(3 prime UTR variant)
Lethal Kniest-like syndrome
+1 more
GLikely benign
HSPG2, LOC126805655
(G2214S +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+1 more
GUncertain significance
HSPG2
(R2377H +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+2 more
GUncertain significance
HSPG2
(S2381R +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+2 more
GUncertain significance
HSPG2
(I2520T +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+1 more
GUncertain significance
HSPG2
(P2716S +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+1 more
GUncertain significance
HSPG2
Single nucleotide variant
(synonymous variant)
Schwartz-Jampel syndrome
+2 more
GConflicting classifications of pathogenicity
HSPG2
Single nucleotide variant
(synonymous variant)
Lethal Kniest-like syndrome
+2 more
GUncertain significance
HSPG2
(A2722T +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+2 more
GConflicting classifications of pathogenicity
HSPG2
Single nucleotide variant
(synonymous variant)
Lethal Kniest-like syndrome
+1 more
GUncertain significance
HSPG2
(C2991G +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+1 more
GUncertain significance
HSPG2
(A559G +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+2 more
GUncertain significance
HSPG2
Single nucleotide variant
(synonymous variant)
Schwartz-Jampel syndrome
+1 more
GUncertain significance
HSPG2
(R625C +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome
+1 more
GUncertain significance
HSPG2
(A3302V +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+2 more
GUncertain significance
HSPG2
(V717A +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome
+1 more
GUncertain significance
HSPG2
Single nucleotide variant
(intron variant)
Schwartz-Jampel syndrome
+1 more
GUncertain significance
HSPG2
(R751W +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome
+2 more
GUncertain significance
HSPG2
(P3442L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
HSPG2
(R878H +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome
+2 more
GUncertain significance
HSPG2
(E881K +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome
+1 more
GUncertain significance
HSPG2
(P1052S +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome
+2 more
GConflicting classifications of pathogenicity
HSPG2
(R1067W +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome
+2 more
GUncertain significance
HSPG2
Single nucleotide variant
(synonymous variant)
Schwartz-Jampel syndrome
+2 more
GConflicting classifications of pathogenicity
HSPG2
(L3755P +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome
+2 more
GUncertain significance
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