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Links from MedGen

Items: 1 to 100 of 134

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP19A1, MIR4713HG
+1 more
(N411S)
Single nucleotide variant
(missense variant)
Aromatase deficiency
GPathogenic
PIRC66, MIR4713HG
+1 more
Single nucleotide variant
(intron variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
(R115*)
Single nucleotide variant
(nonsense)
Aromatase deficiency
+1 more
GPathogenic
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC110386951, PIRC66
+2 more
(T14I)
Single nucleotide variant
(missense variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PIRC66, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
(G156D)
Single nucleotide variant
(missense variant)
Aromatase deficiency
GUncertain significance
PIRC66, MIR4713HG
+1 more
(A165T)
Single nucleotide variant
(missense variant)
Aromatase deficiency
GUncertain significance
MIR4713HG, PIRC66
+1 more
(D209N)
Single nucleotide variant
(missense variant)
Aromatase deficiency
GUncertain significance
CYP19A1, PIRC66
+1 more
(I213V)
Single nucleotide variant
(missense variant)
Aromatase deficiency
GUncertain significance
MIR4713HG, CYP19A1
+1 more
(C275R)
Single nucleotide variant
(missense variant)
Aromatase deficiency
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
(M303V)
Single nucleotide variant
(missense variant)
Aromatase deficiency
GUncertain significance
MIR4713HG, CYP19A1
+1 more
(L378S)
Single nucleotide variant
(missense variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
(R457Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
(Y81C)
Single nucleotide variant
(missense variant)
Aromatase deficiency
+1 more
GConflicting classifications of pathogenicity
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP19A1, MIR4713HG
+1 more
(K119N)
Single nucleotide variant
(missense variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
(H128R)
Single nucleotide variant
(missense variant)
Premature ovarian failure
+1 more
GConflicting classifications of pathogenicity
CYP19A1, MIR4713HG
+1 more
(Y241N)
Single nucleotide variant
(missense variant)
Aromatase deficiency
+1 more
GConflicting classifications of pathogenicity
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GBenign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GBenign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GBenign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
Aromatase deficiency
+1 more
GConflicting classifications of pathogenicity
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, LOC110386947
Single nucleotide variant
(5 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1
Single nucleotide variant
(5 prime UTR variant +1 more)
Aromatase deficiency
GUncertain significance
CYP19A1
Single nucleotide variant
(5 prime UTR variant +1 more)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(splice acceptor variant)
Aromatase excess syndrome
+2 more
GLikely pathogenic
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP19A1, LOC110386951
+2 more
Single nucleotide variant
(synonymous variant)
Aromatase deficiency
+1 more
GConflicting classifications of pathogenicity
CYP19A1, MIR4713HG
+1 more
(R159C)
Single nucleotide variant
(missense variant)
not provided
GBenign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
CYP19A1, MIR4713HG
+1 more
(L353fs)
Duplication
(frameshift variant)
not provided
GPathogenic/Likely pathogenic
CYP19A1
Single nucleotide variant
(splice donor variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
Aromatase deficiency
+2 more
GBenign/Likely benign
CYP19A1, LOC110386951
+2 more
Single nucleotide variant
(synonymous variant)
Aromatase deficiency
+2 more
GBenign
CYP19A1
Single nucleotide variant
(5 prime UTR variant +1 more)
Aromatase deficiency
GUncertain significance
CYP19A1
Deletion
(5 prime UTR variant +1 more)
Aromatase deficiency
GUncertain significance
CYP19A1
Single nucleotide variant
(5 prime UTR variant +1 more)
Aromatase deficiency
GBenign
CYP19A1, MIR4713HG
+1 more
(V17M)
Single nucleotide variant
(missense variant)
Aromatase deficiency
+2 more
GConflicting classifications of pathogenicity
CYP19A1, MIR4713HG
+1 more
(W39R)
Single nucleotide variant
(missense variant)
Aromatase deficiency
+1 more
GBenign/Likely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
Aromatase deficiency
+2 more
GBenign
PIRC66, CYP19A1
+1 more
Single nucleotide variant
(synonymous variant)
Aromatase excess syndrome
+2 more
GBenign
CYP19A1, MIR4713HG
+1 more
(T201M)
Single nucleotide variant
(missense variant)
Aromatase deficiency
+1 more
GBenign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(intron variant)
Aromatase deficiency
+1 more
GConflicting classifications of pathogenicity
CYP19A1, MIR4713HG
+1 more
Duplication
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP19A1, MIR4713HG
+1 more
(M318T)
Single nucleotide variant
(missense variant)
Aromatase deficiency
+1 more
GUncertain significance
CYP19A1, MIR4713HG
+1 more
(P326S)
Single nucleotide variant
(missense variant)
Aromatase deficiency
+2 more
GLikely benign
CYP19A1, MIR4713HG
+1 more
(V460M)
Single nucleotide variant
(missense variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GBenign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
+1 more
GBenign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Deletion
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GBenign
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