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Items: 1 to 100 of 197

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063041, LOC130063042
+687 more
Copy number gain
See cases
GPathogenic
LOC130062978, LOC130062979
+903 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+429 more
Copy number gain
See cases
GPathogenic
ABCA7, ABHD17A
+453 more
Copy number gain
See cases
GLikely pathogenic
ABHD17A, ADAMTSL5
+219 more
Copy number gain
See cases
GUncertain significance
ABHD17A, ADAT3
+387 more
Copy number loss
See cases
GPathogenic
ABHD17A, ADAT3
+362 more
Copy number gain
See cases
GPathogenic
ABHD17A, ADAT3
+108 more
Copy number loss
See cases
GPathogenic
LOC130063254, LOC130063255
+810 more
Copy number gain
See cases
GPathogenic
AMH, LOC108783649
Single nucleotide variant
not provided
GBenign
AMH, LOC108783649
Single nucleotide variant
not provided
GBenign
AMH, LOC108783649
Single nucleotide variant
(5 prime UTR variant)
AMH-related disorder
GLikely benign
AMH, LOC108783649
(R2Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AMH, LOC108783649
(S8T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AMH, LOC108783649
(L9M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMH, LOC108783649
(V12G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AMH, LOC108783649
(A18T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMH, LOC108783649
(A18V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
AMH
(R26G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AMH
(A31S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMH
(L43S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AMH
(P46A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AMH
(P46H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AMH
(S49I)
Single nucleotide variant
(missense variant)
Persistent Mullerian duct syndrome
+1 more
GBenign
AMH
(Q51fs)
Deletion
(frameshift variant)
Persistent Mullerian duct syndrome
GPathogenic
AMH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AMH
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
AMH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AMH
(L70fs)
Duplication
(frameshift variant)
not provided
GPathogenic
AMH
(L76P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AMH
(A78T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AMH
(L84P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMH
(L84Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AMH
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AMH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AMH
(P94S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMH
(P94L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMH
(T99S)
Single nucleotide variant
(missense variant)
Persistent Mullerian duct syndrome
+1 more
GUncertain significance
AMH
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AMH
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AMH
(V102I)
Single nucleotide variant
(missense variant)
not provided
GBenign
AMH
(G106S)
Single nucleotide variant
(missense variant)
not provided
GBenign
AMH
(S114P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMH
(R116W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMH
(R117W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AMH
(R117Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
AMH
(R123Q)
Single nucleotide variant
(missense variant)
not provided
GBenign
AMH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AMH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AMH
Single nucleotide variant
(intron variant)
not provided
GBenign
AMH
(T143I)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
AMH
(P144A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AMH
(P158fs)
Deletion
(frameshift variant)
Persistent mullerian duct syndrome, type I
GPathogenic
AMH
(A156T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AMH
(G157D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
AMH
(E160Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AMH
(Y167C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
AMH
(P168S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMH
(P168T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMH
(P182T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMH
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AMH
(Q185E)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
AMH
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
AMH
Single nucleotide variant
(intron variant)
not provided
GBenign
AMH, LOC130063038
+1 more
(C188Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
Persistent Mullerian duct syndrome
GPathogenic
MIR4321, AMH
+1 more
(R191*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Persistent mullerian duct syndrome, type I
GPathogenic
AMH, LOC130063038
+1 more
(D192G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
AMH, LOC130063038
+1 more
(R194C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
AMH, LOC130063038
+1 more
(R202C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
AMH, LOC130063038
+1 more
(P203S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
AMH, MIR4321
(A206P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
AMH, MIR4321
(A206V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
AMH
(T215A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMH
(Q217*)
Single nucleotide variant
(nonsense)
Persistent Mullerian duct syndrome
GPathogenic
AMH
(R219H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AMH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AMH
Single nucleotide variant
(intron variant)
not provided
GBenign
AMH
Duplication
(intron variant)
not provided
GBenign
AMH
Single nucleotide variant
(intron variant)
AMH-related disorder
GLikely benign
AMH
(S223F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AMH
(A228S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMH
(G236R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMH
(D238H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMH
(D238A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMH
(E256K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMH
(E256Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AMH
(P261L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AMH
(T268A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
AMH
(T268I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AMH
(P270S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
AMH
Single nucleotide variant
(intron variant)
not specified
GLikely benign
AMH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AMH
Single nucleotide variant
(intron variant)
not provided
GBenign
AMH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AMH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AMH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AMH
Single nucleotide variant
(synonymous variant)
not provided
GBenign
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