"Human Developmental Genetics, Institut Pasteur"[submitter] AND "OFD1" - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1064514	NM_003611.3(OFD1):c.950A>G (p.Gln317Arg)	OFD1 (Q177R +1 more)	Single nucleotide variant (missense variant +1 more)	Peripheral precocious puberty	GUncertain significance
Select item 1064506	NM_003611.3(OFD1):c.951G>T (p.Gln317His)	OFD1 (Q177H +1 more)	Single nucleotide variant (missense variant +1 more)	Peripheral precocious puberty	GUncertain significance