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Links from Gene

Items: 1 to 100 of 237

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LHCGR, STON1-GTF2A1L
(K310T)
Single nucleotide variant
(missense variant +1 more)
LHCGR-related disorder
GUncertain significance
LHCGR, STON1-GTF2A1L
(E27Q)
Single nucleotide variant
(missense variant +1 more)
LHCGR-related disorder
GUncertain significance
LHCGR, STON1-GTF2A1L
(A7V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(G46S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(Q675P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(R695H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(R23G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(E148V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(I78V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(F667L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(N507S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(T469I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
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
(T197P)
Single nucleotide variant
(missense variant +1 more)
Leydig cell agenesis
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
LHCGR-related disorder
GLikely benign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(5 prime UTR variant +1 more)
STON1-GTF2A1L-related disorder
GLikely benign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(intron variant)
LHCGR-related disorder
GLikely benign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(intron variant)
not provided
GBenign
LHCGR, STON1-GTF2A1L
Microsatellite
(inframe_insertion +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
(S6L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
Duplication
(inframe_insertion +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
(M509T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LHCGR, STON1-GTF2A1L
(L401P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LHCGR, STON1-GTF2A1L
(H278Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
(D157N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
LHCGR, STON1-GTF2A1L
(H209Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
Microsatellite
(intron variant)
not provided
GLikely benign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LHCGR, STON1-GTF2A1L
(L11P)
Single nucleotide variant
(missense variant +1 more)
LHCGR-related disorder
GLikely pathogenic
LHCGR, STON1-GTF2A1L
(L10P)
Single nucleotide variant
(missense variant +1 more)
LHCGR-related disorder
GLikely pathogenic
LHCGR, STON1-GTF2A1L
(L607V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
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
(L97F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(G40C)
Single nucleotide variant
(missense variant +1 more)
Leydig cell agenesis
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely pathogenic
LHCGR, STON1-GTF2A1L
(Y331*)
Single nucleotide variant
(nonsense +1 more)
Leydig cell agenesis
GLikely pathogenic
LHCGR, STON1-GTF2A1L
(L622M)
Single nucleotide variant
(missense variant +1 more)
Leydig cell agenesis
GUncertain significance
LHCGR, STON1-GTF2A1L
(S253P)
Single nucleotide variant
(missense variant +1 more)
46,XY disorder of sex development
GUncertain significance
LHCGR, STON1-GTF2A1L
(S66P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(I249T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LHCGR, STON1-GTF2A1L
(R395C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(T197M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(L242V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(G489V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(R342Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
LHCGR, STON1-GTF2A1L
(A689T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(V380A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LHCGR, STON1-GTF2A1L
(E188*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
LHCGR, STON1-GTF2A1L
(R479*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
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)
not provided
GBenign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LHCGR, STON1-GTF2A1L
(R646C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LHCGR, STON1-GTF2A1L
(I164T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
(I83M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
(T602I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
(V393G)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LHCGR, STON1-GTF2A1L
(A344D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LHCGR, STON1-GTF2A1L
(M408I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
LHCGR, STON1-GTF2A1L
(L16Q)
Single nucleotide variant
(missense variant +1 more)
See cases
GUncertain significance
LHCGR, STON1-GTF2A1L
(P224L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LHCGR, STON1-GTF2A1L
(Y623S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
STON1-GTF2A1L, LHCGR
(D564V)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
LHCGR, STON1-GTF2A1L
(A449T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
Duplication
(inframe_insertion +1 more)
not provided
+2 more
GUncertain significance
LHCGR, STON1-GTF2A1L
(M571I)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
LHCGR, STON1-GTF2A1L
(I366T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
(G504S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
(A118V)
Single nucleotide variant
(missense variant +1 more)
Leydig cell agenesis
GUncertain significance
LHCGR, STON1-GTF2A1L
(K12fs)
Insertion
(frameshift variant +1 more)
not provided
GPathogenic
STON1-GTF2A1L, LHCGR
(V596G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LHCGR, STON1-GTF2A1L
(L384I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
(E289G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(intron variant)
not provided
GBenign
STON1-GTF2A1L, LHCGR
Single nucleotide variant
(intron variant)
not provided
GBenign
STON1-GTF2A1L, LHCGR
Single nucleotide variant
(intron variant)
not provided
GBenign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(intron variant)
not provided
GBenign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(intron variant)
not provided
GBenign
LHCGR, STON1-GTF2A1L
Deletion
(intron variant)
not provided
GBenign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(intron variant)
not provided
GBenign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(intron variant)
not provided
GBenign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(intron variant)
not provided
GBenign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(intron variant)
not provided
GBenign
LHCGR, STON1-GTF2A1L
Single nucleotide variant
(intron variant)
not provided
GBenign
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