ClinVar for MedGen (Select 376720) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 888475	NM_000942.5(PPIB):c.-12C>G	PPIB	Single nucleotide variant (5 prime UTR variant)	Osteogenesis imperfecta type 9	GUncertain significance
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 888473	NM_000942.5(PPIB):c.57G>T (p.Ala19=)	PPIB	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 9	GUncertain significance
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 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 887218	NM_000942.5(PPIB):c.359G>A (p.Gly120Asp)	SNX22, PPIB (G120D)	Single nucleotide variant (missense variant +2 more)	not provided +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 884248	NM_000942.4(PPIB):c.-92C>A	PPIB	Single nucleotide variant	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 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 669151	NM_000942.5(PPIB):c.85G>A (p.Gly29Arg)	PPIB (G29R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely 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 380475	NM_000942.5(PPIB):c.249+19G>T	PPIB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 316713	NM_000942.4(PPIB):c.-139C>T	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 316711	NM_000942.4(PPIB):c.-118A>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 316709	NM_000942.4(PPIB):c.-94C>G	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 316707	NM_000942.4(PPIB):c.-57G>A	PPIB	Single nucleotide variant	Osteogenesis imperfecta type 9	GUncertain significance
Select item 316706	NM_000942.4(PPIB):c.-56C>A	PPIB	Single nucleotide variant	Osteogenesis imperfecta type 9	GUncertain significance
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 316704	NM_000942.5(PPIB):c.279C>T (p.Phe93=)	PPIB	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 9	GUncertain significance
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)	not provided +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 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 31849	NM_000942.5(PPIB):c.63C>A (p.Ser21=)	PPIB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 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 31843	NM_000942.5(PPIB):c.120del (p.Val42fs)	PPIB (V42fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 9	GPathogenic
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 46