C0796176[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 618196	NM_001127671.2(LIFR):c.2447A>G (p.Asp816Gly)	LIFR (D816G)	Single nucleotide variant (missense variant)	Stüve-Wiedemann syndrome 1 +3 more	GBenign/Likely benign
Select item 353617	NM_001127671.2(LIFR):c.2353G>A (p.Val785Ile)	LIFR (V785I)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome +1 more	GBenign
Select item 1185224	NM_001127671.2(LIFR):c.2167+21T>C	LIFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185225	NM_001127671.2(LIFR):c.1292-80T>A	LIFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185226	NM_001127671.2(LIFR):c.561+216A>G	LIFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185227	NM_001127671.2(LIFR):c.397+29A>C	LIFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 353631	NM_001127671.2(LIFR):c.346C>T (p.His116Tyr)	LIFR (H116Y)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GBenign
Select item 1185228	NM_001127671.2(LIFR):c.143-39C>G	LIFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 810891	NM_001127671.2(LIFR):c.143-60A>G	LIFR	Single nucleotide variant (intron variant)	Stuve-Wiedemann syndrome +1 more	GBenign

ClinVar