ClinVar for MedGen (Select 419332) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333457	NM_001025295.3(IFITM5):c.143A>G (p.Asn48Ser)	IFITM5 (N48S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 5 +1 more	GUncertain significance
Select item 768407	NM_001025295.3(IFITM5):c.91C>A (p.Pro31Thr)	IFITM5 (P31T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 743647	NM_001025295.3(IFITM5):c.190C>T (p.Arg64Ter)	IFITM5, LOC130005046 (R64*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 689498	NM_001025295.3(IFITM5):c.119C>G (p.Ser40Trp)	IFITM5 (S40W)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 5 +1 more	GPathogenic/Likely pathogenic
Select item 506680	NM_001025295.3(IFITM5):c.278C>T (p.Thr93Met)	IFITM5 (T93M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 290777	NM_001025295.3(IFITM5):c.100C>T (p.Arg34Ter)	IFITM5 (R34*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 5 +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 193131	NM_001025295.3(IFITM5):c.80G>C (p.Gly27Ala)	IFITM5 (G27A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 183677	NM_001025295.3(IFITM5):c.119C>T (p.Ser40Leu)	IFITM5 (S40L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 37143	NM_001025295.3(IFITM5):c.-14C>T	IFITM5, PGGHG	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GPathogenic