"GeneDx"[submitter] AND "PPIB"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 316695	NM_000942.5(PPIB):c.*204dup	PPIB, SNX22	Duplication (3 prime UTR variant +1 more)	Osteogenesis Imperfecta, Recessive +1 more	GBenign/Likely benign
Select item 316696	NM_000942.5(PPIB):c.*202dup	PPIB, SNX22	Duplication (3 prime UTR variant +1 more)	Osteogenesis Imperfecta, Recessive +1 more	GBenign
Select item 426916	NM_000942.5(PPIB):c.602A>G (p.Asp201Gly)	PPIB, SNX22 (D201G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 316701	NM_000942.5(PPIB):c.597C>T (p.Ile199=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	Osteogenesis imperfecta type 9 +1 more	GConflicting classifications of pathogenicity
Select item 218476	NM_000942.5(PPIB):c.569G>A (p.Arg190Gln)	PPIB, SNX22 (R190Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 674934	NM_000942.5(PPIB):c.529-21G>A	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +2 more)	Osteogenesis imperfecta type 9 +1 more	GBenign
Select item 675189	NM_000942.5(PPIB):c.529-116T>A	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1204758	NM_000942.5(PPIB):c.529-180G>A	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 423387	NM_000942.5(PPIB):c.414_417dup (p.Met140fs)	SNX22, PPIB (M140fs)	Duplication (frameshift 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 1187036	NM_000942.5(PPIB):c.343+238G>A	PPIB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196801	NM_000942.5(PPIB):c.343+143C>T	PPIB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 31845	NM_000942.5(PPIB):c.343+1G>A	PPIB	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
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 1253665	NM_000942.5(PPIB):c.250-207G>A	PPIB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179395	NM_000942.5(PPIB):c.249+338G>T	PPIB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267517	NM_000942.5(PPIB):c.249+316G>C	PPIB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202889	NM_000942.5(PPIB):c.249+301_249+302dup	PPIB	Duplication (intron variant)	not provided	GLikely benign
Select item 1215214	NM_000942.5(PPIB):c.249+315del	PPIB	Deletion (intron variant)	not provided	GLikely benign
Select item 1186050	NM_000942.5(PPIB):c.249+163A>G	PPIB	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1300581	NM_000942.5(PPIB):c.243_244delinsC (p.Gly82fs)	PPIB (G82fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1201444	NM_000942.5(PPIB):c.136-245T>C	PPIB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210944	NM_000942.5(PPIB):c.136-291T>A	PPIB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669151	NM_000942.5(PPIB):c.85G>A (p.Gly29Arg)	PPIB (G29R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 31849	NM_000942.5(PPIB):c.63C>A (p.Ser21=)	PPIB	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 9 +2 more	GBenign
Select item 1218339	NM_000942.5(PPIB):c.-10_-5dup	PPIB	Duplication (5 prime UTR variant)	not provided	GLikely benign
Select item 515095	NM_000942.5(PPIB):c.-20G>A	PPIB	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 515889	NM_000942.5(PPIB):c.-25G>A	PPIB	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 386236	NM_000942.5(PPIB):c.-25G>C	PPIB	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 369094	NM_000942.4(PPIB):c.-171C>T	PPIB	Single nucleotide variant	not specified +2 more	GBenign/Likely benign
Select item 369095	NM_000942.4(PPIB):c.-181G>A	PPIB	Single nucleotide variant	Osteogenesis Imperfecta, Recessive +1 more	GBenign/Likely benign
Select item 1201341	NC_000015.10:g.64163212G>A	PPIB	Single nucleotide variant	not provided	GLikely benign

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Items: 33