U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 64

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSPG2
(K1407R +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome type 1
GUncertain significance
HSPG2
(C344R)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome type 1
GLikely pathogenic
HSPG2, LDLRAD2
Single nucleotide variant
(3 prime UTR variant +1 more)
Schwartz-Jampel syndrome type 1
GLikely pathogenic
HSPG2
(P1378S +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome type 1
GUncertain significance
HSPG2
Single nucleotide variant
(intron variant)
Schwartz-Jampel syndrome type 1
GUncertain significance
HSPG2
(A1766T +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome type 1
GLikely pathogenic
HSPG2, LDLRAD2
(P4388fs +1 more)
Deletion
(frameshift variant +1 more)
Schwartz-Jampel syndrome type 1
GLikely pathogenic
HSPG2
(Y3276H +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome type 1
GUncertain significance
HSPG2
(Q407fs)
Deletion
(frameshift variant)
Schwartz-Jampel syndrome type 1
GLikely pathogenic
HSPG2
(R1725Q +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome type 1
+1 more
GUncertain significance
HSPG2
(R588C +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome type 1
GUncertain significance
HSPG2, LDLRAD2
Single nucleotide variant
(3 prime UTR variant +1 more)
Schwartz-Jampel syndrome type 1
GUncertain significance
HSPG2, LDLRAD2
Single nucleotide variant
(3 prime UTR variant +1 more)
Schwartz-Jampel syndrome type 1
GUncertain significance
HSPG2
Single nucleotide variant
(splice donor variant)
Schwartz-Jampel syndrome type 1
GLikely pathogenic
HSPG2
(N3095S +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome type 1
+1 more
GUncertain significance
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
(R1758Q +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome type 1
+1 more
GConflicting classifications of pathogenicity
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
(G306R)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome type 1
+2 more
GUncertain significance
HSPG2
Single nucleotide variant
(intron variant)
Schwartz-Jampel syndrome type 1
+2 more
GBenign/Likely benign
HSPG2
(V635M +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
HSPG2
Deletion
(intron variant)
Schwartz-Jampel syndrome type 1
+2 more
GBenign
HSPG2
Single nucleotide variant
(synonymous variant)
Schwartz-Jampel syndrome type 1
+2 more
GUncertain significance
HSPG2
(V1658M +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome type 1
+3 more
GUncertain significance
HSPG2
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
HSPG2
(R615H +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
HSPG2
(G3324R +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome type 1
+3 more
GLikely pathogenic
HSPG2
(R3693W +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome type 1
+3 more
GUncertain significance
HSPG2, LOC126805655
(R2281H +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome type 1
+3 more
GUncertain significance
HSPG2
(R917Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HSPG2
(E3734K +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HSPG2
Single nucleotide variant
(synonymous variant)
Schwartz-Jampel syndrome
+5 more
GBenign/Likely benign
HSPG2
(R3342K +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome type 1
+1 more
GConflicting classifications of pathogenicity
HSPG2
Single nucleotide variant
(synonymous variant)
Lethal Kniest-like syndrome
+3 more
GConflicting classifications of pathogenicity
HSPG2
(V3955L +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
HSPG2
(V529M +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome type 1
+2 more
GUncertain significance
HSPG2
Single nucleotide variant
(intron variant)
Schwartz-Jampel syndrome
+2 more
GConflicting classifications of pathogenicity
HSPG2
(R1464Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
HSPG2
(S253C)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+4 more
GUncertain significance
HSPG2
Single nucleotide variant
(synonymous variant)
Schwartz-Jampel syndrome type 1
+3 more
GBenign
HSPG2
(R675W +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+4 more
GUncertain significance
HSPG2
Single nucleotide variant
(synonymous variant)
Schwartz-Jampel syndrome type 1
+3 more
GBenign
HSPG2
(G1230S +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome type 1
+3 more
GBenign
HSPG2
Single nucleotide variant
(synonymous variant)
Lethal Kniest-like syndrome
+5 more
GBenign/Likely benign
HSPG2
(G1635R +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+3 more
GUncertain significance
HSPG2
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+4 more
GBenign/Likely benign
HSPG2
(R2682W +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+5 more
GBenign/Likely benign
HSPG2
(R3159Q +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+4 more
GUncertain significance
HSPG2
(R3354H +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome type 1
+3 more
GUncertain significance
HSPG2
(V3640I +1 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+4 more
GBenign
HSPG2
(T4118M +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome
+2 more
GUncertain significance
HSPG2
Single nucleotide variant
(splice donor variant)
Lethal Kniest-like syndrome
+2 more
GPathogenic/Likely pathogenic
HSPG2
(N957H +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign
HSPG2
(V3500M +1 more)
Single nucleotide variant
(missense variant)
HSPG2-related condition
+6 more
GBenign/Likely benign
HSPG2
(R1919C +1 more)
Single nucleotide variant
(missense variant)
HSPG2-related condition
+6 more
GBenign/Likely benign
HSPG2, LDLRAD2
Deletion
(splice acceptor variant +1 more)
Schwartz-Jampel syndrome type 1
GPathogenic
HSPG2
Deletion
(splice acceptor variant)
Schwartz-Jampel syndrome type 1
GPathogenic
HSPG2
(A2822T +1 more)
Single nucleotide variant
Schwartz-Jampel syndrome type 1
GPathogenic
HSPG2
Variation
Schwartz-Jampel syndrome type 1
GPathogenic
HSPG2
Single nucleotide variant
(intron variant)
Schwartz-Jampel syndrome type 1
GPathogenic
HSPG2
(C1532Y +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome type 1
GPathogenic
HSPG2
Single nucleotide variant
(intron variant)
Schwartz-Jampel syndrome type 1
GPathogenic
Format
Items per page
Sort by
Choose Destination