Related gene-specific medical variations for Gene (Select 5479) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3217183	NM_000942.5(PPIB):c.351C>G (p.Ser117Arg)	PPIB, SNX22 (S117R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 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 2691627	NM_000942.5(PPIB):c.528+5G>A	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2185123	NM_000942.5(PPIB):c.624G>A (p.Glu208=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2180199	NM_000942.5(PPIB):c.425A>G (p.Asn142Ser)	PPIB, SNX22 (N142S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2119547	NM_000942.5(PPIB):c.347A>G (p.Lys116Arg)	PPIB, SNX22 (K116R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2048563	NM_000942.5(PPIB):c.465G>A (p.Thr155=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2040342	NM_000942.5(PPIB):c.443A>C (p.Asn148Thr)	PPIB, SNX22 (N148T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2026810	NM_000942.5(PPIB):c.459C>T (p.Phe153=)	SNX22, PPIB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2012622	NM_000942.5(PPIB):c.416G>T (p.Ser139Ile)	PPIB, SNX22 (S139I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1918653	NM_000942.5(PPIB):c.344-18C>T	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1702049	NM_000942.5(PPIB):c.640G>T (p.Ala214Ser)	PPIB, SNX22 (A214S)	Single nucleotide variant (missense variant +2 more)	Osteogenesis imperfecta	GUncertain significance
Select item 1698658	NM_000942.5(PPIB):c.528+1G>C	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +2 more)	Osteogenesis imperfecta	GLikely pathogenic
Select item 1582290	NM_000942.5(PPIB):c.372C>T (p.Pro124=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1530697	NM_000942.5(PPIB):c.351C>T (p.Ser117=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1505005	NM_000942.5(PPIB):c.646G>T (p.Glu216Ter)	PPIB, SNX22 (E216*)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 1445657	NM_000942.5(PPIB):c.416G>A (p.Ser139Asn)	PPIB, SNX22 (S139N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1419647	NM_000942.5(PPIB):c.510C>T (p.Gly170=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1393219	NM_000942.5(PPIB):c.509G>A (p.Gly170Asp)	PPIB, SNX22 (G170D)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1376786	NM_000942.5(PPIB):c.548A>C (p.Glu183Ala)	PPIB, SNX22 (E183A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1344893	NM_000942.5(PPIB):c.434_435del (p.Lys145fs)	PPIB, SNX22 (K145fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 993834	NM_000942.5(PPIB):c.344-1G>T	SNX22, PPIB	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely pathogenic
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 887218	NM_000942.5(PPIB):c.359G>A (p.Gly120Asp)	SNX22, PPIB (G120D)	Single nucleotide variant (missense variant +2 more)	Osteogenesis imperfecta type 9 +2 more	GUncertain significance
Select item 886217	NM_000942.5(PPIB):c.444C>T (p.Asn148=)	SNX22, PPIB	Single nucleotide variant (synonymous variant +2 more)	Osteogenesis imperfecta type 9	GUncertain significance
Select item 886216	NM_000942.5(PPIB):c.528+14G>A	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +2 more)	Osteogenesis imperfecta type 9 +1 more	GConflicting classifications of pathogenicity
Select item 886215	NM_000942.5(PPIB):c.*14C>A	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 9	GUncertain significance
Select item 886214	NM_000942.5(PPIB):c.*21T>A	SNX22, PPIB	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 9	GBenign
Select item 885313	NM_000942.5(PPIB):c.*65G>C	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 9	GUncertain significance
Select item 885312	NM_000942.5(PPIB):c.*80C>T	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 9	GUncertain significance
Select item 885311	NM_000942.5(PPIB):c.*154C>T	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 9	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 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 757737	NM_000942.5(PPIB):c.606C>T (p.Cys202=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 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 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 423387	NM_000942.5(PPIB):c.414_417dup (p.Met140fs)	PPIB, SNX22 (M140fs)	Duplication (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 316703	NM_000942.5(PPIB):c.364C>T (p.Arg122Cys)	PPIB, SNX22 (R122C)	Single nucleotide variant (missense variant +2 more)	Osteogenesis imperfecta type 9 +1 more	GUncertain significance
Select item 316702	NM_000942.5(PPIB):c.426C>T (p.Asn142=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	Osteogenesis imperfecta type 9	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 316700	NM_000942.5(PPIB):c.*12A>G	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 9	GUncertain significance
Select item 316699	NM_000942.5(PPIB):c.*190T>G	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 9	GUncertain significance
Select item 316698	NM_000942.5(PPIB):c.*189dup	PPIB, SNX22	Duplication (3 prime UTR variant +1 more)	Osteogenesis Imperfecta, Recessive	GUncertain significance
Select item 316697	NM_000942.5(PPIB):c.201_202dup	PPIB, SNX22	Duplication (3 prime UTR variant +1 more)	Osteogenesis Imperfecta, Recessive	GUncertain significance
Select item 316696	NM_000942.5(PPIB):c.*202dup	PPIB, SNX22	Duplication (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 316695	NM_000942.5(PPIB):c.*204dup	PPIB, SNX22	Duplication (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 266118	NM_000942.5(PPIB):c.399_401dup (p.Gly134dup)	PPIB, SNX22	Duplication (inframe_insertion +2 more)	Osteogenesis imperfecta	GUncertain significance
Select item 218476	NM_000942.5(PPIB):c.569G>A (p.Arg190Gln)	PPIB, SNX22 (R190Q)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 41422	NM_000942.5(PPIB):c.563_566del (p.Asp188fs)	PPIB, SNX22 (D188fs)	Microsatellite (frameshift variant +2 more)	Osteogenesis imperfecta type 9	GPathogenic
Select item 31848	NM_000942.5(PPIB):c.178G>T (p.Val60Leu)	PPIB (V60L)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 31846	NM_000942.5(PPIB):c.492C>G (p.Gly164=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	not provided	Gnot provided
Select item 31842	NM_000942.5(PPIB):c.414_423del (p.Ser139fs)	PPIB, SNX22 (S139fs)	Deletion (frameshift variant +2 more)	not provided	Gnot provided
Select item 16926	NM_000942.5(PPIB):c.451C>T (p.Gln151Ter)	PPIB, SNX22 (Q151*)	Single nucleotide variant (nonsense +2 more)	Osteogenesis imperfecta type 9	GPathogenic
Select item 16925	NM_000942.5(PPIB):c.556_559del (p.Lys186fs)	PPIB, SNX22 (K186fs)	Deletion (frameshift variant +2 more)	Osteogenesis imperfecta +1 more	GPathogenic

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Links from Gene

Items: 57