ClinVar for MedGen (Select 1677775) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065761	NM_152513.4(MEI1):c.567C>A (p.Tyr189Ter)	MEI1 (Y189*)	Single nucleotide variant (nonsense)	Hydatidiform mole, recurrent, 3	GUncertain significance
Select item 2442306	NM_152513.4(MEI1):c.3772G>T (p.Asp1258Tyr)	MEI1 (D1258Y)	Single nucleotide variant (missense variant)	MEI1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2442305	NM_152513.4(MEI1):c.868CTC[1] (p.Leu291del)	MEI1 (L291del)	Microsatellite (inframe_deletion)	Hydatidiform mole, recurrent, 3	GLikely benign
Select item 627578	NM_152513.4(MEI1):c.2206del (p.Val736fs)	MEI1 (V736fs)	Deletion (frameshift variant)	Hydatidiform mole, recurrent, 3	GPathogenic
Select item 627577	NM_152513.4(MEI1):c.1196+1G>A	MEI1	Single nucleotide variant (splice donor variant)	Hydatidiform mole, recurrent, 3	GPathogenic
Select item 627576	NM_152513.4(MEI1):c.3452G>A (p.Trp1151Ter)	MEI1 (W1151*)	Single nucleotide variant (nonsense)	Hydatidiform mole, recurrent, 3	GLikely pathogenic

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