"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LIFR"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 195484	NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=)	LIFR	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1416697	NM_001127671.2(LIFR):c.3245G>A (p.Gly1082Glu)	LIFR (G1071E +1 more)	Single nucleotide variant (missense variant)	Stüve-Wiedemann syndrome 1 +1 more	GUncertain significance
Select item 1191489	NM_001127671.2(LIFR):c.2948C>G (p.Pro983Arg)	LIFR (P972R +1 more)	Single nucleotide variant (missense variant)	Stüve-Wiedemann syndrome 1 +1 more	GUncertain significance
Select item 763240	NM_001127671.2(LIFR):c.1722G>A (p.Ser574=)	LIFR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 656451	NM_001127671.2(LIFR):c.478_479del (p.Arg160fs)	LIFR (R160fs)	Deletion (frameshift variant)	Stüve-Wiedemann syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 501917	NM_001127671.2(LIFR):c.452C>G (p.Ser151Cys)	LIFR (S151C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 811716	NM_001127671.2(LIFR):c.406C>G (p.Pro136Ala)	LIFR (P136A)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome +2 more	GUncertain significance
Select item 283380	NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala)	LIFR (T122A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1372780	NM_001127671.2(LIFR):c.325G>T (p.Glu109Ter)	LIFR (E109*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 990386	NM_001127671.2(LIFR):c.231T>C (p.Thr77=)	LIFR	Single nucleotide variant (synonymous variant)	Stüve-Wiedemann syndrome 1	GUncertain significance
Select item 1164570	NM_001127671.2(LIFR):c.143-37GT[16]	LIFR	Microsatellite (intron variant)	Stüve-Wiedemann syndrome 1 +3 more	GBenign