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Links from MedGen

Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LIFR
(S679fs)
Deletion
(frameshift variant)
Stüve-Wiedemann syndrome 1
GPathogenic
LIFR
(Y379fs)
Microsatellite
(frameshift variant)
Stüve-Wiedemann syndrome 1
GLikely pathogenic
LIFR
(W235fs)
Deletion
(frameshift variant)
Stüve-Wiedemann syndrome 1
GPathogenic
LIFR
(S824fs)
Deletion
(frameshift variant)
Stüve-Wiedemann syndrome 1
GPathogenic
LIFR
Single nucleotide variant
(synonymous variant)
Stüve-Wiedemann syndrome 1
+1 more
GLikely benign
LIFR
Single nucleotide variant
(splice donor variant)
Stüve-Wiedemann syndrome 1
+1 more
GPathogenic/Likely pathogenic
LIFR
(R925H +1 more)
Single nucleotide variant
(missense variant)
Stüve-Wiedemann syndrome 1
GUncertain significance
LIFR
(G1071E +1 more)
Single nucleotide variant
(missense variant)
Stüve-Wiedemann syndrome 1
+1 more
GUncertain significance
LIFR
(E109*)
Single nucleotide variant
(nonsense)
Stüve-Wiedemann syndrome 1
+1 more
GPathogenic
LIFR
(Y369fs)
Duplication
(frameshift variant)
Stüve-Wiedemann syndrome 1
GLikely pathogenic
LIFR
(S71fs)
Deletion
(frameshift variant)
Stüve-Wiedemann syndrome 1
GLikely pathogenic
LIFR
(P972R +1 more)
Single nucleotide variant
(missense variant)
Stüve-Wiedemann syndrome 1
+1 more
GUncertain significance
LIFR
Microsatellite
(intron variant)
Stüve-Wiedemann syndrome 1
+2 more
GBenign
LIFR
(S490*)
Single nucleotide variant
(nonsense)
Stüve-Wiedemann syndrome 1
+1 more
GPathogenic
LIFR
Single nucleotide variant
(synonymous variant)
Stüve-Wiedemann syndrome 1
GUncertain significance
LIFR
Deletion
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
LIFR
(R86S)
Single nucleotide variant
(missense variant)
Stuve-Wiedemann syndrome
+1 more
GUncertain significance
LIFR
(K253*)
Duplication
(nonsense)
Stüve-Wiedemann syndrome 1
+2 more
GPathogenic
LIFR
(P136A)
Single nucleotide variant
(missense variant)
Stuve-Wiedemann syndrome
+2 more
GUncertain significance
LIFR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
LIFR
(R160fs)
Deletion
(frameshift variant)
Stüve-Wiedemann syndrome 1
+1 more
GPathogenic/Likely pathogenic
LIFR
(S664L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
LIFR
(S151C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LIFR
Single nucleotide variant
(intron variant)
Stüve-Wiedemann syndrome 1
+1 more
GBenign/Likely benign
LIFR
Microsatellite
(intron variant)
Stuve-Wiedemann syndrome
+2 more
GConflicting classifications of pathogenicity
LIFR
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign/Likely benign
LIFR
(N1096K +1 more)
Single nucleotide variant
(missense variant)
Stuve-Wiedemann syndrome
+4 more
GConflicting classifications of pathogenicity
LIFR
(E219fs)
Duplication
(frameshift variant)
not provided
GPathogenic
LIFR
(N85fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
LIFR
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
LIFR
(I633M)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+4 more
GBenign
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