Related gene-specific medical variations for Gene (Select 10857) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2661290	Single allele	PGRMC1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 2661289	Single allele	PGRMC1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1256018	NM_006667.5(PGRMC1):c.272T>C (p.Met91Thr)	PGRMC1 (M91T)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256016	NM_006667.5(PGRMC1):c.418G>C (p.Asp140His)	PGRMC1 (D140H)	Single nucleotide variant (missense variant +1 more)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 687922	GRCh37/hg19 Xq24(chrX:118333509-118383212)x3	PGRMC1	Copy number gain	not provided	GUncertain significance

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