"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 713913	NM_018112.3(TMEM38B):c.113-7A>G	TMEM38B	Single nucleotide variant (intron variant)	Osteogenesis imperfecta +2 more	GBenign/Likely benign
Select item 1327299	NM_018112.3(TMEM38B):c.300A>G (p.Leu100=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1702068	NM_018112.3(TMEM38B):c.341C>T (p.Ala114Val)	TMEM38B (A114V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1702069	NM_018112.3(TMEM38B):c.390C>A (p.Val130=)	TMEM38B	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta	GUncertain significance
Select item 1702070	NM_018112.3(TMEM38B):c.526T>C (p.Trp176Arg)	TMEM38B (W176R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GUncertain significance
Select item 1299480	NM_018112.3(TMEM38B):c.662T>C (p.Ile221Thr)	TMEM38B (I221T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 14 +2 more	GConflicting classifications of pathogenicity
Select item 716663	NM_018112.3(TMEM38B):c.748C>T (p.Pro250Ser)	TMEM38B (P250S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 516239	NM_018112.3(TMEM38B):c.761G>C (p.Cys254Ser)	TMEM38B (C254S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +2 more	GBenign