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Links from MedGen

Items: 1 to 100 of 877

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DHCR7
(K13R)
Single nucleotide variant
(missense variant +1 more)
Smith-Lemli-Opitz syndrome
GUncertain significance
DHCR7
Single nucleotide variant
(splice donor variant)
Smith-Lemli-Opitz syndrome
GLikely pathogenic
DHCR7
(F52L)
Single nucleotide variant
(missense variant +2 more)
Smith-Lemli-Opitz syndrome
GUncertain significance
DHCR7
(V40M +2 more)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
GUncertain significance
DHCR7
(L44F +2 more)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
GUncertain significance
DHCR7
(V46F +2 more)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
GUncertain significance
DHCR7
(T105N +2 more)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
GUncertain significance
DHCR7
(V108L +4 more)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
GUncertain significance
DHCR7
Deletion
Smith-Lemli-Opitz syndrome
GLikely pathogenic
DHCR7
(T112M +4 more)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
GUncertain significance
DHCR7
(D117H +4 more)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
GLikely pathogenic
DHCR7
(G230fs +5 more)
Deletion
(frameshift variant)
Smith-Lemli-Opitz syndrome
GLikely pathogenic
DHCR7
(Y159C +5 more)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
GUncertain significance
DHCR7
(D234H +5 more)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
GUncertain significance
DHCR7
(S254P +5 more)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
GUncertain significance
DHCR7
(N268S +5 more)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
GUncertain significance
DHCR7
(M212T +5 more)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
GUncertain significance
DHCR7
(Q245R +5 more)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
GUncertain significance
DHCR7
Single nucleotide variant
(splice donor variant)
Smith-Lemli-Opitz syndrome
GLikely pathogenic
DHCR7
Single nucleotide variant
(intron variant)
Smith-Lemli-Opitz syndrome
GUncertain significance
DHCR7
(H243Q +5 more)
Indel
(missense variant +1 more)
Smith-Lemli-Opitz syndrome
GLikely pathogenic
DHCR7
(H356fs +1 more)
Indel
(frameshift variant +3 more)
Smith-Lemli-Opitz syndrome
GLikely pathogenic
DHCR7
(Y327H +5 more)
Single nucleotide variant
(missense variant +3 more)
Smith-Lemli-Opitz syndrome
GUncertain significance
DHCR7
(P347A +7 more)
Single nucleotide variant
(missense variant +2 more)
Smith-Lemli-Opitz syndrome
GUncertain significance
DHCR7
(D377Y +5 more)
Single nucleotide variant
(missense variant +3 more)
Smith-Lemli-Opitz syndrome
GUncertain significance
DHCR7
(A425Y +7 more)
Indel
(missense variant +2 more)
Smith-Lemli-Opitz syndrome
GLikely pathogenic
DHCR7
(D366fs +7 more)
Deletion
(frameshift variant +2 more)
Smith-Lemli-Opitz syndrome
GLikely pathogenic
DHCR7
(Q330P +5 more)
Single nucleotide variant
(missense variant +3 more)
Smith-Lemli-Opitz syndrome
GUncertain significance
DHCR7
(H358Q +7 more)
Single nucleotide variant
(missense variant +2 more)
Smith-Lemli-Opitz syndrome
GUncertain significance
DHCR7
(T456fs +1 more)
Deletion
(nonsense +3 more)
Smith-Lemli-Opitz syndrome
GLikely pathogenic
DHCR7
(H410Y +5 more)
Single nucleotide variant
(missense variant +2 more)
Smith-Lemli-Opitz syndrome
GUncertain significance
DHCR7
(R392L +5 more)
Single nucleotide variant
(missense variant +2 more)
Smith-Lemli-Opitz syndrome
GPathogenic
DHCR7
(W471R +5 more)
Single nucleotide variant
(missense variant +2 more)
Smith-Lemli-Opitz syndrome
GUncertain significance
DHCR7
Single nucleotide variant
(splice donor variant)
Smith-Lemli-Opitz syndrome
GLikely pathogenic
DHCR7
Deletion
Smith-Lemli-Opitz syndrome
GPathogenic
DHCR7
Single nucleotide variant
(intron variant)
Smith-Lemli-Opitz syndrome
GUncertain significance
TSHR, TSHR-AS1
(R450fs)
Deletion
(frameshift variant)
Hypothyroidism due to TSH receptor mutations
+1 more
GPathogenic
DHCR7
(R385G +5 more)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
GLikely pathogenic
DHCR7
(S323P +5 more)
Single nucleotide variant
(missense variant +1 more)
Smith-Lemli-Opitz syndrome
GUncertain significance
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(intron variant)
Smith-Lemli-Opitz syndrome
GConflicting classifications of pathogenicity
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(intron variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(intron variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Duplication
(frameshift variant +1 more)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
(G114R +1 more)
Single nucleotide variant
(missense variant +1 more)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(intron variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(splice donor variant)
Smith-Lemli-Opitz syndrome
GLikely pathogenic
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
(P367R +1 more)
Single nucleotide variant
(synonymous variant +1 more)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(intron variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(intron variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
(W390S +1 more)
Single nucleotide variant
(synonymous variant +1 more)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
(S392N +1 more)
Single nucleotide variant
(synonymous variant +1 more)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
(T61K +2 more)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
GLikely pathogenic
DHCR7
(G397E +1 more)
Single nucleotide variant
(synonymous variant +1 more)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
(P330R +1 more)
Single nucleotide variant
(missense variant +1 more)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Deletion
(inframe_indel)
Smith-Lemli-Opitz syndrome
GPathogenic
DHCR7
(P342Q +1 more)
Single nucleotide variant
(synonymous variant +1 more)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
(P330A +1 more)
Single nucleotide variant
(missense variant +1 more)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
(K13E)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
GUncertain significance
DHCR7
Single nucleotide variant
(intron variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(intron variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(intron variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
(G400D +1 more)
Single nucleotide variant
(synonymous variant +1 more)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(intron variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(intron variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(synonymous variant +1 more)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(intron variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(intron variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
(Y217* +5 more)
Single nucleotide variant
(nonsense)
Smith-Lemli-Opitz syndrome
GPathogenic
DHCR7
(S329F +1 more)
Single nucleotide variant
(missense variant +1 more)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
(Q26*)
Single nucleotide variant
(nonsense)
Smith-Lemli-Opitz syndrome
GPathogenic/Likely pathogenic
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
(A408V +1 more)
Single nucleotide variant
(synonymous variant +1 more)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(intron variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(intron variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
(Y105* +4 more)
Single nucleotide variant
(nonsense)
Smith-Lemli-Opitz syndrome
GPathogenic
DHCR7
Single nucleotide variant
(intron variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
(Y222D +5 more)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
GLikely pathogenic
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(intron variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(intron variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(intron variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Single nucleotide variant
(intron variant)
Smith-Lemli-Opitz syndrome
GLikely benign
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