ClinVar for MedGen (Select 931237) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2445432	GRCh37/hg19 18q11.1-11.2(chr18:18856932-19159898)x1	ESCO1, GREB1L	Copy number loss	Mayer-Rokitansky-Küster-Hauser syndrome type 2	GPathogenic
Select item 2444486	NM_001142966.3(GREB1L):c.1558G>A (p.Asp520Asn)	GREB1L, LOC101927521 (D520N +1 more)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Küster-Hauser syndrome type 2	GUncertain significance
Select item 2444485	NM_001142966.3(GREB1L):c.5396_5397del (p.Lys1799fs)	GREB1L (K1799fs)	Deletion (frameshift variant)	Mayer-Rokitansky-Küster-Hauser syndrome type 2	GPathogenic
Select item 2444484	NM_001142966.3(GREB1L):c.3205T>A (p.Leu1069Met)	GREB1L (L1069M +2 more)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Küster-Hauser syndrome type 2	GUncertain significance
Select item 2444483	NM_001142966.3(GREB1L):c.4054GAG[2] (p.Glu1354del)	GREB1L (E1245del +2 more)	Microsatellite (inframe_deletion +1 more)	Mayer-Rokitansky-Küster-Hauser syndrome type 2	GUncertain significance
Select item 2444482	NM_001142966.3(GREB1L):c.3167T>C (p.Leu1056Pro)	GREB1L (L1056P +2 more)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Küster-Hauser syndrome type 2	GUncertain significance
Select item 2444476	NM_001142966.3(GREB1L):c.5441C>A (p.Ala1814Asp)	GREB1L (A1705D +2 more)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Küster-Hauser syndrome type 2	GUncertain significance
Select item 1684664	NM_001142966.3(GREB1L):c.4992T>A (p.Tyr1664Ter)	GREB1L (Y1664*)	Single nucleotide variant (nonsense)	Mayer-Rokitansky-Küster-Hauser syndrome type 2	GPathogenic
Select item 1328379	NM_001142966.3(GREB1L):c.553G>A (p.Gly185Ser)	LOC101927521, GREB1L (G185S)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Küster-Hauser syndrome type 2	GUncertain significance