PPIB[gene] and "single gene"[properties] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 specified +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)	not provided +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 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 provided +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)	not provided +2 more	GUncertain significance
Select item 3001412	NM_000942.5(PPIB):c.204T>C (p.Thr68=)	PPIB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999519	NM_000942.5(PPIB):c.198A>C (p.Gly66=)	PPIB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2223025	NM_000942.5(PPIB):c.170T>C (p.Val57Ala)	PPIB (V57A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2885533	NM_000942.5(PPIB):c.162T>C (p.Asp54=)	PPIB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1466604	NM_000942.5(PPIB):c.135+19C>T	PPIB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1679478	NM_000942.5(PPIB):c.135+14C>T	PPIB	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2261839	NM_000942.5(PPIB):c.134A>G (p.Lys45Arg)	PPIB (K45R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1388005	NM_000942.5(PPIB):c.130G>A (p.Val44Ile)	PPIB (V44I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2164196	NM_000942.5(PPIB):c.124G>A (p.Val42Ile)	PPIB (V42I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077837	NM_000942.5(PPIB):c.121A>G (p.Lys41Glu)	PPIB (K41E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 31843	NM_000942.5(PPIB):c.120del (p.Val42fs)	PPIB (V42fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 9	GPathogenic
Select item 3217181	NM_000942.5(PPIB):c.119C>T (p.Pro40Leu)	PPIB (P40L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1905755	NM_000942.5(PPIB):c.116G>A (p.Gly39Glu)	PPIB (G39E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986235	NM_000942.5(PPIB):c.115G>T (p.Gly39Trp)	PPIB (G39W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2019227	NM_000942.5(PPIB):c.108G>A (p.Lys36=)	PPIB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1400210	NM_000942.5(PPIB):c.108G>T (p.Lys36Asn)	PPIB (K36N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 440189	NM_000942.5(PPIB):c.104A>G (p.Glu35Gly)	PPIB (E35G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 669151	NM_000942.5(PPIB):c.85G>A (p.Gly29Arg)	PPIB (G29R)	Single nucleotide variant (missense variant)	PPIB-related disorder +2 more	GBenign/Likely benign
Select item 750562	NM_000942.5(PPIB):c.81G>C (p.Leu27=)	PPIB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1392035	NM_000942.5(PPIB):c.67TTC[1] (p.Phe24del)	PPIB (F24del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2040641	NM_000942.5(PPIB):c.66C>A (p.Val22=)	PPIB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 31849	NM_000942.5(PPIB):c.63C>A (p.Ser21=)	PPIB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 316705	NM_000942.5(PPIB):c.58G>T (p.Gly20Trp)	PPIB (G20W)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 9	GUncertain significance
Select item 888473	NM_000942.5(PPIB):c.57G>T (p.Ala19=)	PPIB	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 9	GUncertain significance
Select item 3217184	NM_000942.5(PPIB):c.56C>T (p.Ala19Val)	PPIB (A19V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2224993	NM_000942.5(PPIB):c.49C>G (p.Leu17Val)	PPIB (L17V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1433711	NM_000942.5(PPIB):c.43G>A (p.Ala15Thr)	PPIB (A15T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2001937	NM_000942.5(PPIB):c.39T>G (p.Leu13=)	PPIB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786272	NM_000942.5(PPIB):c.33G>C (p.Val11=)	PPIB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 16927	NM_000942.5(PPIB):c.26T>G (p.Met9Arg)	PPIB (M9R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 9	GPathogenic
Select item 1672923	NM_000942.5(PPIB):c.24C>T (p.Asn8=)	PPIB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2093629	NM_000942.5(PPIB):c.23A>G (p.Asn8Ser)	PPIB (N8S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2354586	NM_000942.5(PPIB):c.19C>A (p.Arg7Ser)	PPIB (R7S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 755738	NM_000942.5(PPIB):c.12C>T (p.Leu4=)	PPIB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 762447	NM_000942.5(PPIB):c.9C>T (p.Arg3=)	PPIB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3217185	NM_000942.5(PPIB):c.8G>C (p.Arg3Pro)	PPIB (R3P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042184	NM_000942.5(PPIB):c.-5dup	PPIB	Duplication (5 prime UTR variant)	PPIB-related disorder	GLikely benign
Select item 1218339	NM_000942.5(PPIB):c.-10_-5dup	PPIB	Duplication (5 prime UTR variant)	not provided	GLikely benign
Select item 1702050	NM_000942.5(PPIB):c.-8G>C	PPIB	Single nucleotide variant (5 prime UTR variant)	PPIB-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 888474	NM_000942.5(PPIB):c.-9C>G	PPIB	Single nucleotide variant (5 prime UTR variant)	Osteogenesis imperfecta +1 more	GUncertain significance
Select item 888475	NM_000942.5(PPIB):c.-12C>G	PPIB	Single nucleotide variant (5 prime UTR variant)	Osteogenesis imperfecta type 9	GUncertain significance
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 316706	NM_000942.4(PPIB):c.-56C>A	PPIB	Single nucleotide variant	Osteogenesis imperfecta type 9	GUncertain significance
Select item 316707	NM_000942.4(PPIB):c.-57G>A	PPIB	Single nucleotide variant	Osteogenesis imperfecta type 9	GUncertain significance
Select item 316708	NM_000942.4(PPIB):c.-91A>C	PPIB	Single nucleotide variant	Osteogenesis imperfecta type 9	GUncertain significance
Select item 888477	NM_000942.4(PPIB):c.-92C>G	PPIB	Single nucleotide variant	Osteogenesis imperfecta type 9	GUncertain significance
Select item 888476	NM_000942.4(PPIB):c.-92C>T	PPIB	Single nucleotide variant	Osteogenesis imperfecta type 9	GUncertain significance
Select item 884248	NM_000942.4(PPIB):c.-92C>A	PPIB	Single nucleotide variant	Osteogenesis imperfecta type 9	GUncertain significance
Select item 316709	NM_000942.4(PPIB):c.-94C>G	PPIB	Single nucleotide variant	Osteogenesis imperfecta type 9	GUncertain significance
Select item 316710	NM_000942.4(PPIB):c.-98C>A	PPIB	Single nucleotide variant	Osteogenesis imperfecta type 9	GUncertain significance
Select item 316711	NM_000942.4(PPIB):c.-118A>G	PPIB	Single nucleotide variant	Osteogenesis imperfecta type 9	GUncertain significance
Select item 316712	NM_000942.4(PPIB):c.-136C>T	PPIB	Single nucleotide variant	Osteogenesis imperfecta type 9	GUncertain significance
Select item 316713	NM_000942.4(PPIB):c.-139C>T	PPIB	Single nucleotide variant	Osteogenesis imperfecta type 9	GUncertain significance
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	not provided +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: 99