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Links from MedGen

Items: 79

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LHCGR, STON1-GTF2A1L
Duplication
(inframe_insertion +1 more)
not provided
+2 more
GUncertain significance
STON1-GTF2A1L, LHCGR
(Q525*)
Single nucleotide variant
(nonsense +1 more)
Gonadotropin-independent familial sexual precocity
GLikely pathogenic
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
Leydig cell agenesis
+1 more
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(3 prime UTR variant +1 more)
Leydig cell agenesis
+1 more
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(3 prime UTR variant +1 more)
Gonadotropin-independent familial sexual precocity
+1 more
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(3 prime UTR variant +1 more)
Leydig cell agenesis
+1 more
GUncertain significance
STON1-GTF2A1L, LHCGR
Single nucleotide variant
(3 prime UTR variant +1 more)
Leydig cell agenesis
+1 more
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(3 prime UTR variant +1 more)
Leydig cell agenesis
+1 more
GUncertain significance
LHCGR, STON1-GTF2A1L
(V459I)
Single nucleotide variant
(missense variant +1 more)
Leydig cell agenesis
+1 more
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
Gonadotropin-independent familial sexual precocity
+1 more
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(3 prime UTR variant +1 more)
Gonadotropin-independent familial sexual precocity
+1 more
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(intron variant)
Leydig cell agenesis
+1 more
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
(A236V)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
(L691P)
Single nucleotide variant
(missense variant +1 more)
Leydig cell agenesis
+1 more
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(3 prime UTR variant +1 more)
Gonadotropin-independent familial sexual precocity
+1 more
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(3 prime UTR variant +1 more)
Leydig cell agenesis
+1 more
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(3 prime UTR variant +1 more)
Leydig cell agenesis
+1 more
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(5 prime UTR variant +1 more)
Leydig cell agenesis
+1 more
GUncertain significance
STON1-GTF2A1L, LHCGR
Single nucleotide variant
(synonymous variant +1 more)
Leydig cell agenesis
+1 more
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(intron variant)
Gonadotropin-independent familial sexual precocity
+4 more
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
Leydig cell agenesis
+1 more
GUncertain significance
LHCGR, STON1-GTF2A1L
(R124Q)
Single nucleotide variant
(missense variant +1 more)
Leydig cell agenesis
+1 more
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
(C699S)
Single nucleotide variant
(missense variant +1 more)
Leydig cell agenesis
+1 more
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(3 prime UTR variant +1 more)
Leydig cell agenesis
+1 more
GBenign/Likely benign
STON1-GTF2A1L, LHCGR
Single nucleotide variant
(3 prime UTR variant +1 more)
Leydig cell agenesis
+1 more
GUncertain significance
LHCGR, STON1-GTF2A1L
Deletion
(intron variant +1 more)
Gonadotropin-independent familial sexual precocity
+1 more
GConflicting classifications of pathogenicity
STON1-GTF2A1L, LHCGR
(V208I)
Single nucleotide variant
(missense variant +1 more)
Gonadotropin-independent familial sexual precocity
+3 more
GBenign/Likely benign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
Gonadotropin-independent familial sexual precocity
+2 more
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(intron variant)
Gonadotropin-independent familial sexual precocity
+3 more
GBenign
STON1-GTF2A1L, LHCGR
Single nucleotide variant
(synonymous variant +1 more)
LHCGR-related disorder
+3 more
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
Duplication
(inframe_insertion +1 more)
not specified
+4 more
GBenign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
Hypergonadotropic hypogonadism
+2 more
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
(Y113N)
Single nucleotide variant
(missense variant +1 more)
LHCGR-related disorder
+5 more
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
(K126N)
Single nucleotide variant
(missense variant +1 more)
Leydig cell agenesis
+2 more
GLikely benign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(intron variant)
Leydig cell agenesis
+2 more
GUncertain significance
LHCGR, STON1-GTF2A1L
(V144I)
Single nucleotide variant
(missense variant +1 more)
Hypergonadotropic hypogonadism
+3 more
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(intron variant)
Leydig cell agenesis
+4 more
GBenign/Likely benign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
Gonadotropin-independent familial sexual precocity
+3 more
GBenign/Likely benign
LHCGR, STON1-GTF2A1L
(A271T)
Single nucleotide variant
(missense variant +1 more)
Leydig cell agenesis
+2 more
GUncertain significance
LHCGR, STON1-GTF2A1L
(L337S)
Single nucleotide variant
(missense variant +1 more)
Hypergonadotropic hypogonadism
+3 more
GBenign/Likely benign
LHCGR, STON1-GTF2A1L
(V454I)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
(E557K)
Single nucleotide variant
(missense variant +1 more)
Leydig cell agenesis
+3 more
GBenign/Likely benign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
Gonadotropin-independent familial sexual precocity
+3 more
GBenign/Likely benign
LHCGR, STON1-GTF2A1L
(T668P)
Single nucleotide variant
(missense variant +1 more)
Gonadotropin-independent familial sexual precocity
+2 more
GConflicting classifications of pathogenicity
STON1-GTF2A1L, LHCGR
Single nucleotide variant
(3 prime UTR variant +1 more)
Gonadotropin-independent familial sexual precocity
+2 more
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(3 prime UTR variant +1 more)
Gonadotropin-independent familial sexual precocity
+3 more
GBenign/Likely benign
STON1-GTF2A1L, LHCGR
Single nucleotide variant
(3 prime UTR variant +1 more)
Gonadotropin-independent familial sexual precocity
+3 more
GBenign
STON1-GTF2A1L, LHCGR
Single nucleotide variant
(3 prime UTR variant +1 more)
Gonadotropin-independent familial sexual precocity
+3 more
GBenign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(3 prime UTR variant +1 more)
Leydig cell agenesis
+2 more
GUncertain significance
LHCGR, STON1-GTF2A1L
Deletion
(3 prime UTR variant +1 more)
Leydig cell agenesis
+2 more
GLikely benign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(3 prime UTR variant +1 more)
Leydig cell agenesis
+2 more
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(3 prime UTR variant +1 more)
Gonadotropin-independent familial sexual precocity
+3 more
GBenign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(3 prime UTR variant +1 more)
Leydig cell agenesis
+2 more
GUncertain significance
STON1-GTF2A1L, LHCGR
Single nucleotide variant
(3 prime UTR variant +1 more)
Gonadotropin-independent familial sexual precocity
+3 more
GBenign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(3 prime UTR variant +1 more)
Gonadotropin-independent familial sexual precocity
+2 more
GBenign/Likely benign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(3 prime UTR variant +1 more)
Gonadotropin-independent familial sexual precocity
+2 more
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(3 prime UTR variant +1 more)
Leydig cell agenesis
+2 more
GUncertain significance
LHCGR, STON1-GTF2A1L
(N312S)
Single nucleotide variant
(missense variant +1 more)
Leydig cell agenesis
+4 more
GBenign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(intron variant)
Gonadotropin-independent familial sexual precocity
+4 more
GBenign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
Gonadotropin-independent familial sexual precocity
+4 more
GBenign
LHCGR, STON1-GTF2A1L
(N291S)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GBenign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
Gonadotropin-independent familial sexual precocity
+2 more
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
Deletion
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
STON1-GTF2A1L, LHCGR
Single nucleotide variant
(intron variant)
Hypergonadotropic hypogonadism
+3 more
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
(D578Y)
Single nucleotide variant
(missense variant +1 more)
Gonadotropin-independent familial sexual precocity
GLikely pathogenic
LHCGR, STON1-GTF2A1L
(D564G)
Single nucleotide variant
(missense variant +1 more)
Gonadotropin-independent familial sexual precocity
+1 more
GPathogenic
LHCGR, STON1-GTF2A1L
(L457R)
Single nucleotide variant
(missense variant +1 more)
Gonadotropin-independent familial sexual precocity
GPathogenic
LHCGR, STON1-GTF2A1L
(A568V)
Single nucleotide variant
(missense variant +1 more)
Gonadotropin-independent familial sexual precocity
GPathogenic
LHCGR, STON1-GTF2A1L
(L368P)
Single nucleotide variant
(missense variant +1 more)
Gonadotropin-independent familial sexual precocity
GPathogenic
LHCGR, STON1-GTF2A1L
(I542L)
Single nucleotide variant
(missense variant +1 more)
LHCGR-related disorder
+1 more
GPathogenic
LHCGR, STON1-GTF2A1L
(A373V)
Single nucleotide variant
(missense variant +1 more)
Gonadotropin-independent familial sexual precocity
GPathogenic
LHCGR, STON1-GTF2A1L
(M398T)
Single nucleotide variant
(missense variant +1 more)
Precocious puberty in males
+1 more
GPathogenic/Likely pathogenic
LHCGR, STON1-GTF2A1L
(C545*)
Single nucleotide variant
(nonsense +1 more)
Leydig cell agenesis
+2 more
GPathogenic/Likely pathogenic
LHCGR, STON1-GTF2A1L
(A572V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
(T577I)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
LHCGR, STON1-GTF2A1L
(M571I)
Single nucleotide variant
(missense variant +1 more)
Gonadotropin-independent familial sexual precocity
GPathogenic
LHCGR, STON1-GTF2A1L
(D578G)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
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