"Baylor Genetics"[submitter] AND "LIFR"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 561051	NM_001127671.2(LIFR):c.2443A>G (p.Thr815Ala)	LIFR (T815A)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 1029587	NM_001127671.2(LIFR):c.737G>T (p.Trp246Leu)	LIFR (W246L)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 561052	NM_001127671.2(LIFR):c.503C>G (p.Ser168Ter)	LIFR (S168*)	Single nucleotide variant (nonsense)	Stuve-Wiedemann syndrome	GPathogenic

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