9255[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
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 316697	NM_000942.5(PPIB):c.201_202dup	SNX22, PPIB	Duplication (3 prime UTR variant +1 more)	Osteogenesis Imperfecta, Recessive +1 more	GUncertain significance
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 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 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 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 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 886214	NM_000942.5(PPIB):c.*21T>A	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +1 more)	Osteogenesis imperfecta type 9	GBenign
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 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 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 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 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 2185123	NM_000942.5(PPIB):c.624G>A (p.Glu208=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3309168	NM_000942.5(PPIB):c.616G>A (p.Glu206Lys)	PPIB, SNX22 (E206K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 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 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 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 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 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 16925	NM_000942.5(PPIB):c.556_559del (p.Lys186fs)	PPIB, SNX22 (K186fs)	Deletion (frameshift variant +2 more)	Osteogenesis imperfecta +1 more	GPathogenic
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 3350549	NM_000942.5(PPIB):c.539G>A (p.Arg180Gln)	PPIB, SNX22 (R180Q)	Single nucleotide variant (missense variant +2 more)	PPIB-related disorder	GUncertain significance
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 886216	NM_000942.5(PPIB):c.528+14G>A	PPIB, SNX22	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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)	Osteogenesis imperfecta +1 more	GConflicting classifications of pathogenicity
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 3309169	NM_000942.5(PPIB):c.473A>G (p.Lys158Arg)	PPIB, SNX22 (K158R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 2026810	NM_000942.5(PPIB):c.459C>T (p.Phe153=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 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 886217	NM_000942.5(PPIB):c.444C>T (p.Asn148=)	PPIB, SNX22	Single nucleotide variant (synonymous variant +2 more)	Osteogenesis imperfecta type 9	GUncertain significance
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 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 3346349	NM_000942.5(PPIB):c.426C>A (p.Asn142Lys)	PPIB, SNX22 (N142K)	Single nucleotide variant (missense variant +2 more)	PPIB-related disorder	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 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 31842	NM_000942.5(PPIB):c.414_423del (p.Ser139fs)	PPIB, SNX22 (S139fs)	Deletion (frameshift variant +2 more)	not provided	Gnot provided
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 2012622	NM_000942.5(PPIB):c.416G>T (p.Ser139Ile)	SNX22, PPIB (S139I)	Single nucleotide variant (missense variant +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 specified +1 more	GUncertain significance
Select item 266118	NM_000942.5(PPIB):c.399_401dup (p.Gly134_Pro135insGly)	PPIB, SNX22	Duplication (inframe_indel +3 more)	Osteogenesis imperfecta	GUncertain significance
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 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 887218	NM_000942.5(PPIB):c.359G>A (p.Gly120Asp)	PPIB, SNX22 (G120D)	Single nucleotide variant (missense variant +2 more)	Osteogenesis imperfecta type 9 +2 more	GUncertain significance
Select item 3217183	NM_000942.5(PPIB):c.351C>G (p.Ser117Arg)	PPIB, SNX22 (S117R)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 3004564	NM_000942.5(PPIB):c.339A>T (p.Thr113=)	PPIB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3046326	NM_000942.5(PPIB):c.336C>T (p.Gly112=)	PPIB	Single nucleotide variant (synonymous variant)	PPIB-related disorder	GLikely 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 1369179	NM_000942.5(PPIB):c.314G>A (p.Gly105Glu)	PPIB (G105E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910582	NM_000942.5(PPIB):c.313G>C (p.Gly105Arg)	PPIB (G105R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 31844	NM_000942.5(PPIB):c.313G>A (p.Gly105Arg)	PPIB (G105R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GPathogenic/Likely pathogenic
Select item 2908404	NM_000942.5(PPIB):c.312C>T (p.Gly104=)	PPIB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974303	NM_000942.5(PPIB):c.306C>T (p.Ile102=)	PPIB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 887219	NM_000942.5(PPIB):c.300C>A (p.Phe100Leu)	PPIB (F100L)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GUncertain significance
Select item 2681498	NM_000942.5(PPIB):c.297C>T (p.Asp99=)	PPIB	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 1664961	NM_000942.5(PPIB):c.294G>A (p.Lys98=)	PPIB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1702048	NM_000942.5(PPIB):c.284G>A (p.Arg95His)	PPIB (R95H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GUncertain significance
Select item 3217182	NM_000942.5(PPIB):c.283C>A (p.Arg95Ser)	PPIB (R95S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 316704	NM_000942.5(PPIB):c.279C>T (p.Phe93=)	PPIB	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 9	GUncertain significance
Select item 2184891	NM_000942.5(PPIB):c.275A>G (p.Lys92Arg)	PPIB (K92R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2299990	NM_000942.5(PPIB):c.266A>T (p.Lys89Ile)	PPIB (K89I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2870885	NM_000942.5(PPIB):c.255A>G (p.Gly85=)	PPIB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 632241	NM_000942.5(PPIB):c.250-1G>A	PPIB	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type 9	GUncertain significance
Select item 2979040	NM_000942.5(PPIB):c.250-15C>T	PPIB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788788	NM_000942.5(PPIB):c.250-20C>T	PPIB	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2709398	NM_000942.5(PPIB):c.249+16A>C	PPIB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 887220	NM_000942.5(PPIB):c.249+12G>A	PPIB	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 9 +1 more	GConflicting classifications of pathogenicity
Select item 3052587	NM_000942.5(PPIB):c.249+9C>T	PPIB	Single nucleotide variant (intron variant)	PPIB-related disorder	GLikely benign
Select item 2835451	NM_000942.5(PPIB):c.249+1G>A	PPIB	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1926377	NM_000942.5(PPIB):c.247G>C (p.Glu83Gln)	PPIB (E83Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300581	NM_000942.5(PPIB):c.243_244delinsC (p.Gly82fs)	PPIB (G82fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1580866	NM_000942.5(PPIB):c.240T>A (p.Ala80=)	PPIB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1499048	NM_000942.5(PPIB):c.233C>A (p.Ala78Asp)	PPIB (A78D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1343507	NM_000942.5(PPIB):c.224A>G (p.Asn75Ser)	PPIB (N75S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

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