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Items: 1 to 100 of 257

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCG5, ABCG8
+1631 more
Copy number gain
See cases
GPathogenic
LOC126806252, LOC126806253
+2457 more
Copy number gain
See cases
GBenign
ABCG5, ABCG8
+443 more
Copy number gain
See cases
GPathogenic
BCYRN1, CALM2
+94 more
Copy number loss
See cases
GPathogenic
FSHR, GTF2A1L
+10 more
Copy number gain
See cases
GUncertain significance
FSHR, GTF2A1L
+10 more
Copy number gain
See cases
GLikely benign
GTF2A1L, LHCGR
+3 more
Copy number loss
See cases
GPathogenic
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
+2 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
+2 more
GConflicting classifications of pathogenicity
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)
Gonadotropin-independent familial sexual precocity
+2 more
GBenign/Likely benign
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
+1 more
GConflicting classifications of pathogenicity
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
+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
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
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
+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)
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
+3 more
GBenign/Likely benign
LHCGR, STON1-GTF2A1L
Duplication
(3 prime UTR variant +1 more)
not provided
GLikely benign
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)
Gonadotropin-independent familial sexual precocity
+2 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
(synonymous variant +1 more)
Gonadotropin-independent familial sexual precocity
+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
(A689T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(T668P)
Single nucleotide variant
(missense variant +1 more)
Gonadotropin-independent familial sexual precocity
+2 more
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
(F667L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
(R646C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
(S639N)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
Gonadotropin-independent familial sexual precocity
+3 more
GBenign/Likely benign
LHCGR, STON1-GTF2A1L
(I625K)
Single nucleotide variant
(missense variant +1 more)
Leydig cell hypoplasia, type II
GPathogenic
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
LHCGR, STON1-GTF2A1L
(Y623*)
Single nucleotide variant
(nonsense +1 more)
Leydig cell agenesis
GPathogenic
LHCGR, STON1-GTF2A1L
(Y623S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
(L622M)
Single nucleotide variant
(missense variant +1 more)
Leydig cell agenesis
GUncertain significance
LHCGR, STON1-GTF2A1L
(S616Y)
Single nucleotide variant
(missense variant +1 more)
Leydig cell agenesis
+1 more
GPathogenic/Likely pathogenic
STON1-GTF2A1L, LHCGR
Deletion
(inframe_deletion +1 more)
Leydig cell agenesis
+1 more
GPathogenic
LHCGR, STON1-GTF2A1L
(L607V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(T602I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
(V596G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LHCGR, STON1-GTF2A1L
(A593P)
Single nucleotide variant
(missense variant +1 more)
Luteinizing hormone resistance, female
+1 more
GPathogenic
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
Gonadotropin-independent familial sexual precocity
+1 more
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
(D578A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LHCGR, STON1-GTF2A1L
(D578G)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
LHCGR, STON1-GTF2A1L
(D578Y)
Single nucleotide variant
(missense variant +1 more)
Gonadotropin-independent familial sexual precocity
GLikely pathogenic
LHCGR, STON1-GTF2A1L
(D578H)
Single nucleotide variant
(missense variant +1 more)
Leydig cell adenoma, somatic, with male-limited precocious puberty
GPathogenic
LHCGR, STON1-GTF2A1L
(T577I)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
LHCGR, STON1-GTF2A1L
(I575L)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
LHCGR, STON1-GTF2A1L
(A572V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
(M571I)
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
(A568V)
Single nucleotide variant
(missense variant +1 more)
Gonadotropin-independent familial sexual precocity
GPathogenic
LHCGR, STON1-GTF2A1L
(D564V)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
LHCGR, STON1-GTF2A1L
(D564G)
Single nucleotide variant
(missense variant +1 more)
Gonadotropin-independent familial sexual precocity
+1 more
GPathogenic
LHCGR, STON1-GTF2A1L
(E557K)
Single nucleotide variant
(missense variant +1 more)
Leydig cell agenesis
+3 more
GBenign/Likely benign
STON1-GTF2A1L, LHCGR
(R554*)
Single nucleotide variant
(nonsense +1 more)
not provided
+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
(C543R)
Single nucleotide variant
(missense variant +1 more)
Leydig cell agenesis
GPathogenic
LHCGR, STON1-GTF2A1L
(I542L)
Single nucleotide variant
(missense variant +1 more)
LHCGR-related disorder
+1 more
GPathogenic
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
STON1-GTF2A1L, LHCGR
(Q525*)
Single nucleotide variant
(nonsense +1 more)
Gonadotropin-independent familial sexual precocity
GLikely pathogenic
LHCGR, STON1-GTF2A1L
(M509T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
(N507S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(G504S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
(L502P)
Single nucleotide variant
(missense variant +1 more)
Leydig cell agenesis
GPathogenic
LHCGR, STON1-GTF2A1L
(W491R)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
LHCGR, STON1-GTF2A1L
(G489V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(R479*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
LHCGR, STON1-GTF2A1L
(T469I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
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)
not provided
GLikely benign
LHCGR, STON1-GTF2A1L
(L457R)
Single nucleotide variant
(missense variant +1 more)
Gonadotropin-independent familial sexual precocity
GPathogenic
LHCGR, STON1-GTF2A1L
(V454I)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
(A449T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
(A442T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(T441I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
Leydig cell agenesis
+1 more
GUncertain significance
LHCGR, STON1-GTF2A1L
(Q421H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(S420F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(M408I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LHCGR, STON1-GTF2A1L
(L401P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
(M398T)
Single nucleotide variant
(missense variant +1 more)
Precocious puberty in males
+1 more
GPathogenic/Likely pathogenic
LHCGR, STON1-GTF2A1L
(R395C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(V393G)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
LHCGR, STON1-GTF2A1L
(K390R)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
LHCGR, STON1-GTF2A1L
(L384I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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