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Links from MedGen

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GH-LCR, GH1
Deletion
(inframe_deletion)
Ateleiotic dwarfism
GUncertain significance
GH1
Deletion
Ateleiotic dwarfism
GPathogenic
GH1, CSHL1
+1 more
Single nucleotide variant
(intron variant)
Ateleiotic dwarfism
+1 more
GConflicting classifications of pathogenicity
GH-LCR, GH1
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign/Likely benign
GH-LCR, GH1
(P63L)
Indel
(missense variant +1 more)
Ateleiotic dwarfism
GUncertain significance
GH-LCR, GH1
(M156I +2 more)
Single nucleotide variant
(missense variant)
Ateleiotic dwarfism
GUncertain significance
GH-LCR, GH1
(T128S +2 more)
Single nucleotide variant
(missense variant)
Ateleiotic dwarfism
+1 more
GUncertain significance
GH-LCR, GH1
(N73D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GH-LCR, GH1
Single nucleotide variant
(5 prime UTR variant)
GH1-related disorder
+6 more
GBenign/Likely benign
GH-LCR, GH1
(T3A)
Single nucleotide variant
(missense variant)
not specified
+6 more
GBenign/Likely benign
GH-LCR, GH1
(A39V)
Single nucleotide variant
(missense variant)
GH1-related disorder
+7 more
GBenign/Likely benign
DNA2
Deletion
(intron variant)
Seckel syndrome 8
+1 more
GPathogenic/Likely pathogenic
CRIPT
(F47fs)
Deletion
(frameshift variant)
Short stature with microcephaly and distinctive facies
+1 more
GPathogenic
CRIPT
(A45fs)
Insertion
(frameshift variant)
Short stature with microcephaly and distinctive facies
+1 more
GPathogenic
XRCC4
(W43R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
BRCA2
(P3051fs)
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
POC1A
(R81* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
GH-LCR, GH1
Single nucleotide variant
(intron variant +1 more)
Short stature due to growth hormone qualitative anomaly
+4 more
GPathogenic
GH-LCR, GH1
Single nucleotide variant
(splice donor variant)
Ateleiotic dwarfism
GUncertain significance
GH-LCR, GH1
(L18fs)
Deletion
(frameshift variant)
Ateleiotic dwarfism
GPathogenic
GH1
Deletion
Ateleiotic dwarfism
GPathogenic
GH-LCR, GH1
(W20*)
Single nucleotide variant
(nonsense)
Ateleiotic dwarfism
GPathogenic
GH-LCR, GH1
(E67fs +1 more)
Microsatellite
(frameshift variant +1 more)
Ateleiotic dwarfism
GPathogenic
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