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Links from MedGen

Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FIGLA
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
FIGLA
(A4E)
Single nucleotide variant
(missense variant)
Premature ovarian failure 6
GUncertain significance
FIGLA
Single nucleotide variant
(synonymous variant)
Premature ovarian failure 6
GUncertain significance
FIGLA
(P10S)
Single nucleotide variant
(missense variant)
Premature ovarian failure 6
+1 more
GUncertain significance
FIGLA
(P10H)
Single nucleotide variant
(missense variant)
Premature ovarian failure 6
+1 more
GUncertain significance
FIGLA
(V25M)
Single nucleotide variant
(missense variant)
Premature ovarian failure 6
GUncertain significance
FIGLA
Single nucleotide variant
(intron variant)
Premature ovarian failure 6
GBenign
FIGLA
(R83C)
Single nucleotide variant
(missense variant)
Premature ovarian failure 6
GUncertain significance
FIGLA
(P93T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
FIGLA
Single nucleotide variant
(synonymous variant)
Premature ovarian failure 6
GLikely benign
FIGLA
(V209I)
Single nucleotide variant
(missense variant)
Premature ovarian failure 6
GBenign
FIGLA
(M1T)
Single nucleotide variant
(missense variant +1 more)
Premature ovarian failure 6
GPathogenic
FIGLA
(D28E)
Single nucleotide variant
(missense variant)
Premature ovarian failure 6
GBenign
FIGLA
(G52S)
Single nucleotide variant
(missense variant)
Premature ovarian failure 6
GUncertain significance
FIGLA
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
FIGLA
(R83H)
Single nucleotide variant
(missense variant)
Premature ovarian failure 6
GLikely benign
FIGLA
Single nucleotide variant
(intron variant)
Premature ovarian failure 6
GUncertain significance
FIGLA
(S141T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
FIGLA
(S148L)
Single nucleotide variant
(missense variant)
Premature ovarian failure 6
GLikely benign
FIGLA
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
FIGLA
(S189N)
Single nucleotide variant
(missense variant)
Premature ovarian failure 6
GUncertain significance
FIGLA
Single nucleotide variant
(3 prime UTR variant)
Premature ovarian failure 6
GBenign
FIGLA
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GBenign
FIGLA
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GBenign
FIGLA
(N140del)
Microsatellite
(inframe_deletion)
Premature ovarian failure 6
GPathogenic
FIGLA
(G6fs)
Deletion
(frameshift variant)
Premature ovarian failure 6
GPathogenic
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