C5676888[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2437222	NM_001127671.2(LIFR):c.2472_2476del (p.Ser824fs)	LIFR (S824fs)	Deletion (frameshift variant)	Stüve-Wiedemann syndrome 1	GPathogenic
Select item 2690057	NM_001127671.2(LIFR):c.2034del (p.Ser679fs)	LIFR (S679fs)	Deletion (frameshift variant)	Stüve-Wiedemann syndrome 1	GPathogenic
Select item 1070966	NM_001127671.2(LIFR):c.1469C>G (p.Ser490Ter)	LIFR (S490*)	Single nucleotide variant (nonsense)	Stüve-Wiedemann syndrome 1 +1 more	GPathogenic
Select item 906502	NM_001127671.2(LIFR):c.258G>T (p.Arg86Ser)	LIFR (R86S)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome +1 more	GUncertain significance
Select item 1324664	NM_001127671.2(LIFR):c.210del (p.Ser71fs)	LIFR (S71fs)	Deletion (frameshift variant)	Stüve-Wiedemann syndrome 1	GLikely pathogenic
Select item 936674	NM_001127671.2(LIFR):c.23del (p.Cys7_Leu8insTer)	LIFR	Deletion (nonsense)	Stüve-Wiedemann syndrome 1 +1 more	GPathogenic/Likely pathogenic

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