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Items: 1 to 100 of 158

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129993918, MAP3K1
Microsatellite
(inframe_insertion +1 more)
46,XY sex reversal 6
GUncertain significance
LOC129993918, MAP3K1
Microsatellite
(inframe_insertion +1 more)
not specified
+1 more
GBenign
LOC129993918, MAP3K1
(A5P)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GUncertain significance
LOC129993918, MAP3K1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
LOC129993918, MAP3K1
(P15R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
LOC129993918, MAP3K1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 6
GBenign
LOC129993918, MAP3K1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 6
GBenign
LOC129993918, MAP3K1
(G29E)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GUncertain significance
LOC129993918, MAP3K1
(A30D)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GLikely benign
LOC129993918, MAP3K1
(E46D)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GUncertain significance
LOC129993918, MAP3K1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 6
GLikely benign
LOC129993918, MAP3K1
(R54Q)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GUncertain significance
LOC129993918, MAP3K1
(A55T)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GUncertain significance
LOC129993918, MAP3K1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 6
GBenign
LOC129993918, MAP3K1
Microsatellite
(inframe_insertion)
46,XY sex reversal 6
GUncertain significance
LOC129993918, MAP3K1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 6
GLikely benign
LOC129993918, MAP3K1
(Q76H)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GBenign
LOC129993918, MAP3K1
(L78P)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
LOC129993918, MAP3K1
(L78P)
Indel
(missense variant)
46,XY sex reversal 6
+1 more
GBenign
LOC129993918, MAP3K1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
LOC129993918, MAP3K1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 6
GLikely benign
LOC129993918, MAP3K1
(A98G)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GBenign
LOC129993918, MAP3K1
(G102R)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
+1 more
GBenign
LOC129993918, MAP3K1
(G104D)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GUncertain significance
LOC129993918, MAP3K1
(P111S)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GUncertain significance
LOC129993918, MAP3K1
(A116V)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GLikely benign
LOC129993918, MAP3K1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 6
GBenign
LOC129993918, MAP3K1
(G121S)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GUncertain significance
LOC129993918, MAP3K1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 6
GBenign
LOC129993918, MAP3K1
(D132H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
LOC129993918, MAP3K1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 6
GLikely benign
LOC129993918, MAP3K1
(P153L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MAP3K1
(P159L)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GBenign
MAP3K1
Single nucleotide variant
(intron variant)
46,XY sex reversal 6
GBenign
MAP3K1
Single nucleotide variant
(intron variant)
46,XY sex reversal 6
GBenign
MAP3K1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MAP3K1
(K167E)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GUncertain significance
MAP3K1
(R179H)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GUncertain significance
MAP3K1
(R183Q)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GLikely benign
MAP3K1
(R186G)
Single nucleotide variant
(missense variant)
See cases
+1 more
GLikely pathogenic
MAP3K1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 6
GLikely benign
MAP3K1
(R205K)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GUncertain significance
MAP3K1
Single nucleotide variant
(intron variant)
46,XY sex reversal 6
GBenign
MAP3K1
(Q237R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
MAP3K1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 6
GBenign
MAP3K1
(R248Q)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GLikely benign
MAP3K1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 6
+1 more
GBenign/Likely benign
MAP3K1
(N255S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
MAP3K1
(P257L)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
+1 more
GConflicting classifications of pathogenicity
MAP3K1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 6
GLikely benign
MAP3K1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
MAP3K1
Duplication
(intron variant)
46,XY sex reversal 6
GBenign/Likely benign
MAP3K1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAP3K1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 6
GBenign
MAP3K1
(R306C)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GLikely benign
MAP3K1
(R306H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
MAP3K1
(M312L)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
+1 more
GConflicting classifications of pathogenicity
MAP3K1
(Q320R)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
+1 more
GConflicting classifications of pathogenicity
MAP3K1
(R339W)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GLikely benign
MAP3K1
(R339Q)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GPathogenic
MAP3K1
Single nucleotide variant
(intron variant)
46,XY sex reversal 6
GLikely benign
MAP3K1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 6
GBenign
MAP3K1
(T379I)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GUncertain significance
MAP3K1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MAP3K1
(M450V)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GPathogenic
MAP3K1
(E504K)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GUncertain significance
MAP3K1
(Q520E)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GUncertain significance
MAP3K1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 6
+1 more
GBenign
MAP3K1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 6
GLikely benign
MAP3K1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 6
GLikely benign
MAP3K1
(N538S)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GLikely benign
MAP3K1
(Y544F)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GUncertain significance
MAP3K1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 6
GBenign
MAP3K1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MAP3K1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 6
GLikely benign
MAP3K1
(E601K)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GLikely benign
MAP3K1
(G616R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
MAP3K1
(V638G)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GUncertain significance
MAP3K1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 6
GBenign
MAP3K1
(M641V)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GLikely benign
MAP3K1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 6
GLikely benign
MAP3K1
(T657R)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GUncertain significance
MAP3K1
(L662P)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GUncertain significance
MAP3K1
(A671V)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GLikely benign
MAP3K1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 6
GBenign
MAP3K1
(I674M)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GUncertain significance
MAP3K1
(C691Y)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GUncertain significance
MAP3K1
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 6
GLikely benign
MAP3K1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
MAP3K1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP3K1
Single nucleotide variant
(intron variant)
46,XY sex reversal 6
GLikely benign
MAP3K1
(D806N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
MAP3K1
(N807S)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GUncertain significance
MAP3K1
(M811V)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
+1 more
GLikely benign
MAP3K1
(V827I)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GLikely benign
MAP3K1
(T847A)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GUncertain significance
MAP3K1
(M857I)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GLikely benign
MAP3K1
(V863A)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
MAP3K1
Single nucleotide variant
(synonymous variant)
MAP3K1-related condition
+2 more
GLikely benign
MAP3K1
(V873I)
Single nucleotide variant
(missense variant)
46,XY sex reversal 6
GLikely benign
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