ClinVar for MedGen (Select 140915) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 997061	GRCh37/hg19 1q21.1-21.2(chr1:145818702-147824207)	ACP6, GPR89B +9 more	Copy number gain	Mayer-Rokitansky-Kuster-Hauser syndrome	GPathogenic
Select item 917910	NM_001142966.3(GREB1L):c.277G>A (p.Glu93Lys)	GREB1L, LOC101927521 (E93K)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Kuster-Hauser syndrome +2 more	GConflicting classifications of pathogenicity
Select item 917909	NM_001142966.3(GREB1L):c.3492G>T (p.Gly1164=)	GREB1L	Single nucleotide variant (synonymous variant)	Mayer-Rokitansky-Kuster-Hauser syndrome +1 more	GUncertain significance
Select item 917908	NM_001142966.3(GREB1L):c.1936T>C (p.Cys646Arg)	GREB1L (C646R)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Kuster-Hauser syndrome +1 more	GUncertain significance
Select item 917907	NM_001142966.3(GREB1L):c.3983G>A (p.Gly1328Asp)	GREB1L (G1328D)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Kuster-Hauser syndrome +1 more	GUncertain significance
Select item 917906	NM_001142966.3(GREB1L):c.1852G>A (p.Asp618Asn)	GREB1L (D618N)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Kuster-Hauser syndrome +1 more	GUncertain significance
Select item 917905	NM_001142966.3(GREB1L):c.2312C>T (p.Pro771Leu)	GREB1L (P771L)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Kuster-Hauser syndrome +1 more	GUncertain significance
Select item 917904	NM_001142966.3(GREB1L):c.3970-20A>G	GREB1L	Single nucleotide variant (intron variant)	Mayer-Rokitansky-Kuster-Hauser syndrome +1 more	GLikely pathogenic
Select item 917903	NM_001142966.3(GREB1L):c.5198A>G (p.Asn1733Ser)	GREB1L (N1733S)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Kuster-Hauser syndrome +1 more	GUncertain significance
Select item 917902	NM_001142966.3(GREB1L):c.2227del (p.Gln743fs)	GREB1L (Q743fs)	Deletion (frameshift variant)	Mayer-Rokitansky-Kuster-Hauser syndrome +1 more	GPathogenic
Select item 917901	NM_001142966.3(GREB1L):c.2787_2788del (p.Asp930fs)	GREB1L (D930fs)	Microsatellite (frameshift variant)	Mayer-Rokitansky-Kuster-Hauser syndrome +1 more	GPathogenic
Select item 587509	NM_030761.5(WNT4):c.944T>G (p.Phe315Cys)	WNT4 (F315C)	Single nucleotide variant (missense variant)	Mullerian aplasia and hyperandrogenism +2 more	GUncertain significance
Select item 547869	NM_001013631.3(HNRNPCL1):c.764del (p.Asp255fs)	HNRNPCL1 (D255fs)	Deletion (frameshift variant)	Mayer-Rokitansky-Kuster-Hauser syndrome	GUncertain significance