"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2921248	NM_000942.5(PPIB):c.626A>G (p.Lys209Arg)	PPIB, SNX22 (K209R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 811804	NM_000942.5(PPIB):c.615C>T (p.Ile205=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	Osteogenesis imperfecta type 9	GLikely benign
Select item 2921230	NM_000942.5(PPIB):c.580C>T (p.Leu194=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 993764	NM_000942.5(PPIB):c.445G>A (p.Gly149Ser)	PPIB, SNX22 (G149S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 993834	NM_000942.5(PPIB):c.344-1G>T	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 811590	NM_000942.5(PPIB):c.344-61C>T	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign/Likely benign
Select item 31847	NM_000942.5(PPIB):c.324C>T (p.Thr108=)	PPIB	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 380475	NM_000942.5(PPIB):c.249+19G>T	PPIB	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1679478	NM_000942.5(PPIB):c.135+14C>T	PPIB	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 9 +1 more	GLikely benign
Select item 440189	NM_000942.5(PPIB):c.104A>G (p.Glu35Gly)	PPIB (E35G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance