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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DHFR
(M112R +1 more)
Single nucleotide variant
(missense variant)
Constitutional megaloblastic anemia with severe neurologic disease
GUncertain significance
DHFR, MSH3
Microsatellite
(5 prime UTR variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
DHFR, MSH3
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
+3 more
GBenign/Likely benign
DHFR, MSH3
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
+3 more
GBenign/Likely benign
DHFR, MSH3
Deletion
not provided
+3 more
GBenign/Likely benign
DHFR, MSH3
Microsatellite
(5 prime UTR variant +2 more)
not specified
+3 more
GBenign/Likely benign
DHFR, MSH3
(A60P)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
+3 more
GBenign/Likely benign
DHFR, MSH3
(I79V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+3 more
GBenign
MSH3, DHFR
Deletion
(5 prime UTR variant +2 more)
not provided
+3 more
GBenign
DHFR, MSH3
Microsatellite
(5 prime UTR variant +2 more)
Constitutional megaloblastic anemia with severe neurologic disease
+3 more
GConflicting classifications of pathogenicity
DHFR
(D153V +1 more)
Single nucleotide variant
(missense variant +2 more)
Constitutional megaloblastic anemia with severe neurologic disease
GPathogenic
DHFR
(L80F +1 more)
Single nucleotide variant
(missense variant +1 more)
Constitutional megaloblastic anemia with severe neurologic disease
GPathogenic
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