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Links from MedGen

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NSDHL
(Y337C)
Single nucleotide variant
(missense variant)
CK syndrome
GUncertain significance
NSDHL
(G152D)
Single nucleotide variant
(missense variant)
CK syndrome
Gnot provided
NSDHL
(I129fs)
Deletion
(frameshift variant)
Child syndrome
+1 more
GLikely pathogenic
NSDHL
(R15W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NSDHL
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
NSDHL
Duplication
(intron variant)
not provided
+2 more
GBenign/Likely benign
NSDHL
(K344R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NSDHL
(N187S)
Single nucleotide variant
(missense variant)
CK syndrome
+2 more
GUncertain significance
NSDHL
(R15Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NSDHL
(Q89E)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NSDHL
(R88Q)
Single nucleotide variant
(missense variant)
CK syndrome
+2 more
GUncertain significance
NSDHL
(P316R)
Single nucleotide variant
(missense variant)
Child syndrome
+1 more
GUncertain significance
NSDHL
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
NSDHL
Single nucleotide variant
(synonymous variant)
CK syndrome
+2 more
GBenign/Likely benign
NSDHL
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+3 more
GBenign/Likely benign
NSDHL
(W298L)
Single nucleotide variant
(missense variant)
CK syndrome
+2 more
GLikely benign
NSDHL
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
NSDHL
Single nucleotide variant
(synonymous variant)
Child syndrome
+2 more
GBenign/Likely benign
NSDHL
(L352V)
Single nucleotide variant
(missense variant)
Child syndrome
+1 more
GUncertain significance
NSDHL
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
NSDHL
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
NSDHL
(K232del)
Microsatellite
(inframe_deletion)
CK syndrome
GPathogenic
NSDHL
(R367fs)
Duplication
(frameshift variant)
CK syndrome
GPathogenic
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