"Eurofins Ntd Llc (ga)"[submitter] AND "IFITM5"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 593541	NM_001025295.3(IFITM5):c.233T>C (p.Phe78Ser)	IFITM5 (F78S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 498868	NM_001025295.3(IFITM5):c.120G>A (p.Ser40=)	IFITM5	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +1 more	GConflicting classifications of pathogenicity
Select item 193132	NM_001025295.3(IFITM5):c.120G>T (p.Ser40=)	IFITM5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 284954	NM_001025295.3(IFITM5):c.117G>C (p.Trp39Cys)	IFITM5 (W39C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 290777	NM_001025295.3(IFITM5):c.100C>T (p.Arg34Ter)	IFITM5 (R34*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 193131	NM_001025295.3(IFITM5):c.80G>C (p.Gly27Ala)	IFITM5 (G27A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 5 +2 more	GBenign
Select item 516297	NM_001025295.3(IFITM5):c.41C>T (p.Thr14Met)	IFITM5 (T14M)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 594163	NM_001025295.3(IFITM5):c.31C>T (p.Arg11Trp)	IFITM5 (R11W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500127	NM_001025295.3(IFITM5):c.8C>T (p.Thr3Met)	IFITM5 (T3M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 193130	NM_001025295.3(IFITM5):c.-10G>A	IFITM5	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance