"Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine"[submitter - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 2444479	NM_001142966.3(GREB1L):c.575G>A (p.Arg192Gln)	GREB1L, LOC101927521 (R192Q)	Single nucleotide variant (missense variant)	Mayer Rokitansky Kuster Hauser syndrome type 1	GUncertain significance
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 2444481	NM_001142966.3(GREB1L):c.2321T>A (p.Leu774Gln)	GREB1L (L665Q +2 more)	Single nucleotide variant (missense variant)	Scoliosis, isolated, susceptibility to, 1	GUncertain significance
Select item 2444487	NM_001142966.3(GREB1L):c.2722T>C (p.Cys908Arg)	GREB1L (C799R +2 more)	Single nucleotide variant (missense variant)	Mayer Rokitansky Kuster Hauser syndrome type 1	GUncertain significance
Select item 2444480	NM_001142966.3(GREB1L):c.2947G>A (p.Gly983Ser)	GREB1L (G1026S +2 more)	Single nucleotide variant (missense variant)	Scoliosis, isolated, susceptibility to, 1	GUncertain significance
Select item 2444488	NM_001142966.3(GREB1L):c.3068G>A (p.Arg1023Gln)	GREB1L (R1023Q +2 more)	Single nucleotide variant (missense variant)	Mayer Rokitansky Kuster Hauser syndrome type 1	GUncertain significance
Select item 2444477	NM_001142966.3(GREB1L):c.3085G>A (p.Asp1029Asn)	GREB1L (D1029N +2 more)	Single nucleotide variant (missense variant)	Mayer Rokitansky Kuster Hauser syndrome type 1	GUncertain significance
Select item 2444475	NM_001142966.3(GREB1L):c.3146+1G>A	GREB1L	Single nucleotide variant (splice donor variant)	Mayer Rokitansky Kuster Hauser syndrome type 1	GPathogenic
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 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 2444478	NM_001142966.3(GREB1L):c.3353G>A (p.Arg1118Gln)	GREB1L (R1009Q +2 more)	Single nucleotide variant (missense variant)	Mayer Rokitansky Kuster Hauser syndrome type 1	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 1333378	NM_001142966.3(GREB1L):c.4576C>T (p.Arg1526Ter)	GREB1L (R1526*)	Single nucleotide variant (nonsense)	Mayer Rokitansky Kuster Hauser syndrome type 1 +1 more	GPathogenic/Likely pathogenic
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 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 1033328	NM_001142966.3(GREB1L):c.5650C>T (p.Arg1884Cys)	GREB1L (R1884C)	Single nucleotide variant (missense variant)	Mayer Rokitansky Kuster Hauser syndrome type 1 +1 more	GUncertain significance
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