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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ESCO1, GREB1L
Copy number loss
Mayer-Rokitansky-Küster-Hauser syndrome type 2
GPathogenic
GREB1L, LOC101927521
(D520N +1 more)
Single nucleotide variant
(missense variant)
Mayer-Rokitansky-Küster-Hauser syndrome type 2
GUncertain significance
GREB1L
(K1799fs)
Deletion
(frameshift variant)
Mayer-Rokitansky-Küster-Hauser syndrome type 2
GPathogenic
GREB1L
(L1069M +2 more)
Single nucleotide variant
(missense variant)
Mayer-Rokitansky-Küster-Hauser syndrome type 2
GUncertain significance
GREB1L
(E1245del +2 more)
Microsatellite
(inframe_deletion +1 more)
Mayer-Rokitansky-Küster-Hauser syndrome type 2
GUncertain significance
GREB1L
(L1056P +2 more)
Single nucleotide variant
(missense variant)
Mayer-Rokitansky-Küster-Hauser syndrome type 2
GUncertain significance
GREB1L
(A1705D +2 more)
Single nucleotide variant
(missense variant)
Mayer-Rokitansky-Küster-Hauser syndrome type 2
GUncertain significance
GREB1L
(Y1664*)
Single nucleotide variant
(nonsense)
Mayer-Rokitansky-Küster-Hauser syndrome type 2
GPathogenic
LOC101927521, GREB1L
(G185S)
Single nucleotide variant
(missense variant)
Mayer-Rokitansky-Küster-Hauser syndrome type 2
GUncertain significance
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