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Links from MedGen

Items: 1 to 100 of 218

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SH3PXD2B
(R94G)
Single nucleotide variant
(missense variant)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(splice donor variant)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
(P151L)
Single nucleotide variant
(missense variant)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
(W189*)
Single nucleotide variant
(nonsense)
Frank-Ter Haar syndrome
GLikely pathogenic
SH3PXD2B
Single nucleotide variant
(intron variant)
Frank-Ter Haar syndrome
+1 more
GBenign
SH3PXD2B
(R539W)
Single nucleotide variant
(missense variant +1 more)
Frank-Ter Haar syndrome
+1 more
GUncertain significance
SH3PXD2B
(D864E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SH3PXD2B
Single nucleotide variant
(5 prime UTR variant)
Frank-Ter Haar syndrome
+1 more
GConflicting classifications of pathogenicity
SH3PXD2B
Single nucleotide variant
(5 prime UTR variant)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(5 prime UTR variant)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SH3PXD2B
(R343G)
Single nucleotide variant
(missense variant)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
(P792S)
Single nucleotide variant
(missense variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(synonymous variant +1 more)
SH3PXD2B-related disorder
+2 more
GConflicting classifications of pathogenicity
SH3PXD2B
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(intron variant)
Frank-Ter Haar syndrome
+1 more
GConflicting classifications of pathogenicity
SH3PXD2B
(V92I)
Single nucleotide variant
(missense variant)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(intron variant)
Frank-Ter Haar syndrome
+1 more
GConflicting classifications of pathogenicity
SH3PXD2B
(P363L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SH3PXD2B
Single nucleotide variant
(synonymous variant +1 more)
SH3PXD2B-related disorder
+2 more
GConflicting classifications of pathogenicity
SH3PXD2B
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GLikely benign
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GLikely benign
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GBenign
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(synonymous variant)
Frank-Ter Haar syndrome
+2 more
GConflicting classifications of pathogenicity
SH3PXD2B
(A498T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SH3PXD2B
Single nucleotide variant
(synonymous variant +1 more)
Frank-Ter Haar syndrome
+1 more
GConflicting classifications of pathogenicity
SH3PXD2B
(L537R)
Single nucleotide variant
(missense variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
(R539Q)
Single nucleotide variant
(missense variant +1 more)
Frank-Ter Haar syndrome
+1 more
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GLikely benign
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GLikely benign
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GLikely benign
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GLikely benign
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
(L300S)
Single nucleotide variant
(missense variant)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
(R305W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SH3PXD2B
(A309V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SH3PXD2B
Single nucleotide variant
(synonymous variant)
Frank-Ter Haar syndrome
+1 more
GConflicting classifications of pathogenicity
SH3PXD2B
(P329L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
SH3PXD2B
Single nucleotide variant
(synonymous variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
(G558S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
SH3PXD2B
(D662N)
Single nucleotide variant
(missense variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
(D693E)
Single nucleotide variant
(missense variant +1 more)
Frank-Ter Haar syndrome
+1 more
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GBenign
SH3PXD2B
Single nucleotide variant
(3 prime UTR variant +1 more)
Frank-Ter Haar syndrome
GBenign
SH3PXD2B
(I560F)
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
SH3PXD2B
(T445A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GBenign/Likely benign
SH3PXD2B
(F876fs)
Deletion
(frameshift variant +1 more)
Frank-Ter Haar syndrome
+1 more
GConflicting classifications of pathogenicity
SH3PXD2B
Single nucleotide variant
(synonymous variant +1 more)
Frank-Ter Haar syndrome
+1 more
GConflicting classifications of pathogenicity
SH3PXD2B
(R468Q)
Single nucleotide variant
(missense variant +1 more)
Frank-Ter Haar syndrome
+1 more
GUncertain significance
SH3PXD2B
(P730L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
SH3PXD2B
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SH3PXD2B
(R698Q)
Single nucleotide variant
(missense variant +1 more)
Frank-Ter Haar syndrome
+1 more
GUncertain significance
SH3PXD2B
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
SH3PXD2B
Single nucleotide variant
(5 prime UTR variant)
Frank-Ter Haar syndrome
+1 more
GBenign
SH3PXD2B
Single nucleotide variant
(5 prime UTR variant)
Frank-Ter Haar syndrome
+1 more
GBenign
SH3PXD2B
Single nucleotide variant
(5 prime UTR variant)
Frank-Ter Haar syndrome
GUncertain significance
SH3PXD2B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SH3PXD2B
Single nucleotide variant
(intron variant)
Frank-Ter Haar syndrome
+1 more
GConflicting classifications of pathogenicity
SH3PXD2B
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
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