"Eurofins Ntd Llc (ga)"[submitter] AND "LIFR"[gene] - ClinVar - NCBI

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Items: 16

	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 specified +3 more	GBenign/Likely benign
Select item 593625	NM_001127671.2(LIFR):c.2937G>A (p.Ser979=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 353614	NM_001127671.2(LIFR):c.2498-7G>A	LIFR	Single nucleotide variant (intron variant)	Stuve-Wiedemann syndrome +4 more	GBenign/Likely benign
Select item 194624	NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly)	LIFR (R768G)	Single nucleotide variant (missense variant)	Stüve-Wiedemann syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 291235	NM_001127671.2(LIFR):c.2280G>A (p.Leu760=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 235543	NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn)	LIFR (T646N)	Single nucleotide variant (missense variant)	Stüve-Wiedemann syndrome 1 +4 more	GBenign/Likely benign
Select item 194373	NM_001127671.2(LIFR):c.1899A>G (p.Ile633Met)	LIFR (I633M)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome +4 more	GBenign
Select item 500051	NM_001127671.2(LIFR):c.1485T>C (p.Ala495=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 282262	NM_001127671.2(LIFR):c.1357T>C (p.Trp453Arg)	LIFR (W453R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594167	NM_001127671.2(LIFR):c.1182ATT[2] (p.Leu396del)	LIFR (L396del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 281191	NM_001127671.2(LIFR):c.954C>T (p.Thr318=)	LIFR	Single nucleotide variant (synonymous variant)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 281444	NM_001127671.2(LIFR):c.653dup (p.Glu219fs)	LIFR (E219fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 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 196339	NM_001127671.2(LIFR):c.143-37GT[15]	LIFR	Microsatellite (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 353636	NM_001127671.2(LIFR):c.143-37GT[11]	LIFR	Microsatellite (intron variant)	Stuve-Wiedemann syndrome +3 more	GConflicting classifications of pathogenicity