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Links from MedGen

Items: 1 to 100 of 834

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
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
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
(synonymous variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
Duplication
(frameshift variant +1 more)
Smith-Lemli-Opitz syndrome
GPathogenic
DHCR7
(Y137* +4 more)
Single nucleotide variant
(nonsense)
Smith-Lemli-Opitz syndrome
GPathogenic
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
(P51L)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
GLikely pathogenic
DHCR7
(S395F +1 more)
Single nucleotide variant
(synonymous variant +1 more)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
(G277D +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
(Q63fs)
Deletion
(frameshift variant)
Smith-Lemli-Opitz syndrome
GPathogenic
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
(F282V +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 +1 more)
Smith-Lemli-Opitz syndrome
GPathogenic
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
(G432V +1 more)
Single nucleotide variant
(synonymous variant +1 more)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
(A225G +5 more)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
GPathogenic
DHCR7
(C463F +5 more)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
GLikely pathogenic
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
(G271R +5 more)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
GPathogenic
DHCR7
Single nucleotide variant
(synonymous variant +1 more)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
(T421R +7 more)
Single nucleotide variant
(nonsense +1 more)
Smith-Lemli-Opitz syndrome
GPathogenic
DHCR7
(P409S +5 more)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
GLikely pathogenic
DHCR7
(L250fs)
Deletion
(frameshift variant)
Smith-Lemli-Opitz syndrome
GPathogenic
DHCR7
Single nucleotide variant
(synonymous variant)
Smith-Lemli-Opitz syndrome
GLikely benign
DHCR7
(W37*)
Single nucleotide variant
(nonsense)
Smith-Lemli-Opitz syndrome
GPathogenic
DHCR7
(V273I +5 more)
Single nucleotide variant
(missense variant)
Smith-Lemli-Opitz syndrome
GLikely pathogenic
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
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