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Links from MedGen

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ESR1
Single nucleotide variant
(synonymous variant +2 more)
Migraine with or without aura, susceptibility to, 1
+5 more
GBenign/Likely benign
ESR1
Single nucleotide variant
(synonymous variant)
Estrogen resistance syndrome
+4 more
GBenign
TMEM59
Single nucleotide variant
(3 prime UTR variant)
Estrogen resistance syndrome
Grisk factor
ESR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Estrogen resistance syndrome
Grisk factor
ESR1
(R394H +3 more)
Single nucleotide variant
(missense variant)
Estrogen resistance syndrome
GPathogenic/Likely pathogenic
CCDC170
Single nucleotide variant
Estrogen resistance syndrome
GUncertain significance
CCDC170
Single nucleotide variant
not specified
GBenign
CCDC170
Single nucleotide variant
Estrogen resistance syndrome
GUncertain significance
CCDC170
Single nucleotide variant
(3 prime UTR variant)
Estrogen resistance syndrome
GUncertain significance
CCDC170
Single nucleotide variant
(3 prime UTR variant)
Estrogen resistance syndrome
GUncertain significance
CCDC170
(V604I)
Single nucleotide variant
(missense variant)
not specified
GBenign
CCDC170
Single nucleotide variant
(intron variant)
Estrogen resistance syndrome
GUncertain significance
ESR1
(Q375H +3 more)
Single nucleotide variant
(missense variant)
Estrogen resistance syndrome
GPathogenic
ESR1
(V364E +3 more)
Single nucleotide variant
(missense variant)
Estrogen resistance syndrome
GUncertain significance
ESR1
(R157*)
Single nucleotide variant
(nonsense +1 more)
Estrogen resistance syndrome
GPathogenic
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