"Institute of Human Genetics, Cologne University"[submitter] AND "LIFR - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 834053	NM_001127671.2(LIFR):c.2444C>G (p.Thr815Arg)	LIFR (T815R)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome	GLikely pathogenic
Select item 996061	NM_001127671.2(LIFR):c.808T>G (p.Cys270Gly)	LIFR (C270G)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome	GUncertain significance