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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FANCM
(Q192L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FANCM
(Q498fs +1 more)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
FANCM
(G484S +1 more)
Single nucleotide variant
(missense variant)
Fanconi anemia
+3 more
GUncertain significance
FANCM
(P623fs +1 more)
Deletion
(frameshift variant)
Spermatogenic failure 28
GPathogenic
FANCM
(S724* +1 more)
Single nucleotide variant
(nonsense)
Fanconi anemia, complementation group M
GUncertain significance
FANCM
(R1004* +1 more)
Single nucleotide variant
(nonsense)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCM
Deletion
(genic downstream transcript variant +1 more)
Fanconi anemia, complementation group M
GUncertain significance
FANCM
Single nucleotide variant
(genic downstream transcript variant +1 more)
Spermatogenic failure 28
GPathogenic
FANCM
(Q1701* +1 more)
Single nucleotide variant
(nonsense)
not provided
+5 more
GPathogenic/Likely pathogenic
FANCM
(R1931* +1 more)
Single nucleotide variant
(nonsense)
Hereditary nonpolyposis colorectal carcinoma
+5 more
GPathogenic/Likely pathogenic
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