ClinVar for MedGen (Select 140915) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444488	NM_001142966.3(GREB1L):c.3068G>A (p.Arg1023Gln)	GREB1L (R1023Q +2 more)	Single nucleotide variant (missense variant)	Rokitansky sequence	GUncertain significance
Select item 2444487	NM_001142966.3(GREB1L):c.2722T>C (p.Cys908Arg)	GREB1L (C799R +2 more)	Single nucleotide variant (missense variant)	Rokitansky sequence	GUncertain significance
Select item 2444479	NM_001142966.3(GREB1L):c.575G>A (p.Arg192Gln)	GREB1L, LOC101927521 (R192Q)	Single nucleotide variant (missense variant)	Rokitansky sequence	GUncertain significance
Select item 2444478	NM_001142966.3(GREB1L):c.3353G>A (p.Arg1118Gln)	GREB1L (R1009Q +2 more)	Single nucleotide variant (missense variant)	Rokitansky sequence	GUncertain significance
Select item 2444477	NM_001142966.3(GREB1L):c.3085G>A (p.Asp1029Asn)	GREB1L (D1029N +2 more)	Single nucleotide variant (missense variant)	Rokitansky sequence	GUncertain significance
Select item 2444475	NM_001142966.3(GREB1L):c.3146+1G>A	GREB1L	Single nucleotide variant (splice donor variant)	Rokitansky sequence	GPathogenic
Select item 1703541	GRCh37/hg19 16p11.2(chr16:29567295-30177916)	MVP, PAGR1 +24 more	Copy number loss	Rokitansky sequence	GPathogenic
Select item 1333378	NM_001142966.3(GREB1L):c.4576C>T (p.Arg1526Ter)	GREB1L (R1526*)	Single nucleotide variant (nonsense)	Hearing loss, autosomal dominant 80 +1 more	GPathogenic/Likely pathogenic
Select item 1033328	NM_001142966.3(GREB1L):c.5650C>T (p.Arg1884Cys)	GREB1L (R1884C)	Single nucleotide variant (missense variant)	Rokitansky sequence +1 more	GUncertain significance