U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TPTEP2-CSNK1E, CSNK1E
(R178C)
Single nucleotide variant
(missense variant)
Intellectual disability, moderate
+11 more
GUncertain significance
RNPC3
Single nucleotide variant
(splice donor variant)
Decreased response to growth hormone stimulation test
GPathogenic
RNPC3
(R205*)
Single nucleotide variant
(nonsense)
Decreased response to growth hormone stimulation test
+1 more
GPathogenic
GH-LCR, GH1
(Q110E +2 more)
Single nucleotide variant
(missense variant)
Decreased response to growth hormone stimulation test
GUncertain significance
GH-LCR, GH1
(Q102R +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GH-LCR, GH1
(F118L +2 more)
Single nucleotide variant
(missense variant)
Decreased response to growth hormone stimulation test
GUncertain significance
GH-LCR, GH1
Single nucleotide variant
(synonymous variant)
Decreased response to growth hormone stimulation test
GUncertain significance
GH-LCR, GH1
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GLikely benign
GH-LCR, GH1
Single nucleotide variant
(5 prime UTR variant)
Decreased response to growth hormone stimulation test
GUncertain significance
GH-LCR, GH1
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
GH-LCR, GH1
(R113G +2 more)
Single nucleotide variant
(missense variant)
Decreased response to growth hormone stimulation test
GUncertain significance
GH-LCR, GH1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GH-LCR, GH1
(G142D +2 more)
Single nucleotide variant
(missense variant)
Decreased response to growth hormone stimulation test
GUncertain significance
GH-LCR, GH1
(D139H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GH-LCR, GH1
(G172R +2 more)
Single nucleotide variant
(missense variant)
Decreased response to growth hormone stimulation test
GUncertain significance
GH-LCR, GH1
Single nucleotide variant
(synonymous variant)
Decreased response to growth hormone stimulation test
GUncertain significance
GH-LCR, GH1
(P19S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GH-LCR, GH1
Single nucleotide variant
(synonymous variant)
Decreased response to growth hormone stimulation test
GUncertain significance
GH-LCR, GH1
(A39T)
Single nucleotide variant
(missense variant)
Decreased response to growth hormone stimulation test
GUncertain significance
GH-LCR, GH1
(R42C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GH-LCR, GH1
Single nucleotide variant
(synonymous variant)
Decreased response to growth hormone stimulation test
GUncertain significance
GH-LCR, GH1
(Q55R)
Single nucleotide variant
(missense variant)
Decreased response to growth hormone stimulation test
GUncertain significance
GH-LCR, GH1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GH-LCR, GH1
(E67D +1 more)
Single nucleotide variant
(missense variant +1 more)
Isolated growth hormone deficiency type IB
+1 more
GUncertain significance
GH-LCR, GH1
Single nucleotide variant
(intron variant)
Decreased response to growth hormone stimulation test
GUncertain significance
NSMCE2
(D155E)
Single nucleotide variant
(missense variant +1 more)
Dysmorphic features
+4 more
GUncertain significance
GH-LCR, GH1
Single nucleotide variant
(synonymous variant)
Decreased response to growth hormone stimulation test
+1 more
GConflicting classifications of pathogenicity
GH-LCR, GH1
Single nucleotide variant
(synonymous variant)
Decreased response to growth hormone stimulation test
+1 more
GBenign/Likely benign
GH-LCR, GH1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GH-LCR, GH1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RNPC3
(P474T)
Single nucleotide variant
(missense variant)
Isolated growth hormone deficiency, type 5
+1 more
GPathogenic
CEP85L, PLN
Duplication
Ebstein anomaly
+2 more
GUncertain significance
GH-LCR, GH1
Single nucleotide variant
(5 prime UTR variant)
Decreased response to growth hormone stimulation test
+1 more
GBenign
GH-LCR, GH1
Single nucleotide variant
(5 prime UTR variant)
Decreased response to growth hormone stimulation test
GUncertain significance
GH-LCR, GH1
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant isolated somatotropin deficiency
+5 more
GBenign/Likely benign
GH-LCR, GH1
Single nucleotide variant
(synonymous variant)
Decreased response to growth hormone stimulation test
+2 more
GConflicting classifications of pathogenicity
GH-LCR, GH1
Single nucleotide variant
(synonymous variant)
Decreased response to growth hormone stimulation test
GUncertain significance
GH-LCR, GH1
(A43T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GH-LCR, GH1
(R45H)
Single nucleotide variant
(missense variant)
Decreased response to growth hormone stimulation test
GUncertain significance
GH-LCR, GH1
Single nucleotide variant
(intron variant)
Decreased response to growth hormone stimulation test
GUncertain significance
GH1, GH-LCR
Single nucleotide variant
(intron variant)
Decreased response to growth hormone stimulation test
GUncertain significance
GH-LCR, GH1
Single nucleotide variant
(intron variant)
Decreased response to growth hormone stimulation test
+1 more
GConflicting classifications of pathogenicity
GH-LCR, GH1
(R160W +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GH-LCR, GH1
(L188P +2 more)
Single nucleotide variant
(missense variant)
Decreased response to growth hormone stimulation test
GUncertain significance
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)
Decreased response to growth hormone stimulation test
+6 more
GBenign/Likely benign
ADNP
(R730*)
Single nucleotide variant
(nonsense)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
+2 more
GPathogenic/Likely pathogenic
Translocation
Acute pancreatitis
+12 more
GUncertain significance
GH-LCR, GH1
(V136I +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
GH-LCR, GH1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GH-LCR, GH1
(F51Y)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
GH-LCR, GH1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination