ClinVar for MedGen (Select 462568) - ClinVar

Links from MedGen

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065529	NM_021939.4(FKBP10):c.884G>T (p.Gly295Val)	FKBP10 (G295V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 3065462	NM_021939.4(FKBP10):c.583T>C (p.Tyr195His)	FKBP10 (Y195H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 3064485	NM_021939.4(FKBP10):c.392-3C>G	FKBP10	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 2585054	NM_021939.4(FKBP10):c.1034del (p.Pro345fs)	FKBP10 (P345fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 11	GLikely pathogenic
Select item 1806077	NM_021939.4(FKBP10):c.385G>A (p.Gly129Ser)	FKBP10 (G129S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 1683708	NM_021939.4(FKBP10):c.1402C>T (p.Arg468Trp)	FKBP10 (R468W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1360202	NM_021939.4(FKBP10):c.1003A>G (p.Met335Val)	FKBP10 (M335V)	Single nucleotide variant (missense variant)	Bruck syndrome 1 +2 more	GUncertain significance
Select item 1172574	NM_021939.4(FKBP10):c.391+4A>T	FKBP10	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 11	GLikely pathogenic
Select item 1030777	NM_021939.4(FKBP10):c.1029C>G (p.Ile343Met)	FKBP10 (I343M)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 989304	NM_021939.4(FKBP10):c.918-6T>G	FKBP10	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 11	GLikely pathogenic
Select item 892295	NM_021939.4(FKBP10):c.*508G>A	FKBP10	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 892238	NM_021939.4(FKBP10):c.1256+11G>T	FKBP10	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892237	NM_021939.4(FKBP10):c.1256+11G>A	FKBP10	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892177	NM_021939.3(FKBP10):c.-271G>C	FKBP10	Single nucleotide variant	Osteogenesis imperfecta type 11	GUncertain significance
Select item 891081	NM_021939.4(FKBP10):c.*293G>A	FKBP10	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 891080	NM_021939.4(FKBP10):c.*197T>A	FKBP10	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 891079	NM_021939.4(FKBP10):c.*125C>T	FKBP10	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 891078	NM_021939.4(FKBP10):c.1693G>A (p.Asp565Asn)	FKBP10 (D565N)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 891011	NM_021939.4(FKBP10):c.792G>A (p.Pro264=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 891010	NM_021939.4(FKBP10):c.616G>A (p.Gly206Ser)	FKBP10 (G206S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 891009	NM_021939.4(FKBP10):c.591G>A (p.Lys197=)	FKBP10	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 11 +1 more	GConflicting classifications of pathogenicity
Select item 891008	NM_021939.4(FKBP10):c.522C>T (p.Gly174=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 890521	NM_021939.4(FKBP10):c.1454G>A (p.Arg485Gln)	FKBP10 (R485Q)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11 +1 more	GUncertain significance
Select item 890520	NM_021939.4(FKBP10):c.1403G>A (p.Arg468Gln)	FKBP10 (R468Q)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 890519	NM_021939.4(FKBP10):c.1400-6C>T	FKBP10	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 11 +1 more	GConflicting classifications of pathogenicity
Select item 890518	NM_021939.4(FKBP10):c.1382C>T (p.Ala461Val)	FKBP10 (A461V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 890441	NM_021939.4(FKBP10):c.491C>T (p.Pro164Leu)	FKBP10 (P164L)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11 +1 more	GConflicting classifications of pathogenicity
Select item 890440	NM_021939.4(FKBP10):c.408G>A (p.Pro136=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 890439	NM_021939.4(FKBP10):c.393G>A (p.Ala131=)	FKBP10	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 11 +3 more	GConflicting classifications of pathogenicity
Select item 890438	NM_021939.4(FKBP10):c.268G>A (p.Ala90Thr)	FKBP10 (A90T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 888896	NM_021939.4(FKBP10):c.*760G>A	FKBP10	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 888895	NM_021939.4(FKBP10):c.*747C>T	FKBP10	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 888821	NM_021939.4(FKBP10):c.1367T>C (p.Val456Ala)	FKBP10 (V456A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 888820	NM_021939.4(FKBP10):c.1366G>A (p.Val456Met)	FKBP10 (V456M)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 888819	NM_021939.4(FKBP10):c.1323G>A (p.Thr441=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 888818	NM_021939.4(FKBP10):c.1308C>T (p.Ile436=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 888817	NM_021939.4(FKBP10):c.1286C>T (p.Thr429Ile)	FKBP10 (T429I)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 888741	NM_021939.3(FKBP10):c.-35C>A	FKBP10	Single nucleotide variant	Osteogenesis imperfecta type 11	GUncertain significance
Select item 888740	NM_021939.3(FKBP10):c.-89G>A	FKBP10	Single nucleotide variant	Osteogenesis imperfecta type 11	GUncertain significance
Select item 812015	NM_021939.4(FKBP10):c.942T>C (p.Asn314=)	FKBP10	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 11 +3 more	GConflicting classifications of pathogenicity
Select item 733387	NM_021939.4(FKBP10):c.1290C>T (p.Leu430=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 720059	NM_021939.4(FKBP10):c.1546G>A (p.Glu516Lys)	FKBP10 (E516K)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11 +2 more	GBenign/Likely benign
Select item 694418	NM_021939.4(FKBP10):c.1399+51del	FKBP10	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 684403	NM_021939.4(FKBP10):c.1522G>A (p.Asp508Asn)	FKBP10 (D508N)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 684402	NM_021939.4(FKBP10):c.1014C>T (p.Arg338=)	FKBP10	Single nucleotide variant (synonymous variant)	FKBP10-related condition +2 more	GBenign/Likely benign
Select item 684401	NM_021939.4(FKBP10):c.906C>A (p.Leu302=)	FKBP10	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 11	GBenign
Select item 684400	NM_021939.4(FKBP10):c.492G>A (p.Pro164=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 684399	NM_021939.4(FKBP10):c.363C>T (p.Pro121=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 684398	NM_021939.4(FKBP10):c.100G>A (p.Ala34Thr)	FKBP10 (A34T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 684397	NM_021939.4(FKBP10):c.99C>A (p.Arg33=)	FKBP10	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 11	GBenign
Select item 684396	NM_021939.4(FKBP10):c.370G>T (p.Gly124Cys)	FKBP10 (G124C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11	GLikely pathogenic
Select item 684395	NM_021939.4(FKBP10):c.134T>A (p.Val45Asp)	FKBP10 (V45D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11	GLikely pathogenic
Select item 684394	NM_021939.4(FKBP10):c.106C>A (p.Pro36Thr)	FKBP10 (P36T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11	GLikely pathogenic
Select item 631496	NM_021939.4(FKBP10):c.890_897dup (p.Gly300Ter)	FKBP10 (G300*)	Duplication (nonsense)	Bruck syndrome 1	GPathogenic
Select item 618655	NM_021939.4(FKBP10):c.1556C>T (p.Pro519Leu)	FKBP10 (P519L)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11 +1 more	GUncertain significance
Select item 618130	NM_021939.4(FKBP10):c.850G>A (p.Gly284Arg)	FKBP10 (G284R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 618129	NM_021939.4(FKBP10):c.1363A>G (p.Ile455Val)	FKBP10 (I455V)	Single nucleotide variant (missense variant)	FKBP10-related condition +2 more	GConflicting classifications of pathogenicity
Select item 503914	NM_021939.4(FKBP10):c.831del (p.Gly278fs)	FKBP10 (G278fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 438659	NM_021939.4(FKBP10):c.831dup (p.Gly278fs)	FKBP10 (G278fs)	Duplication (frameshift variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 323204	NM_021939.4(FKBP10):c.*693G>T	FKBP10	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 323202	NM_021939.4(FKBP10):c.*589T>C	FKBP10	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 323201	NM_021939.4(FKBP10):c.*549G>A	FKBP10	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 323200	NM_021939.4(FKBP10):c.*422C>G	FKBP10	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 11	GBenign
Select item 323198	NM_021939.4(FKBP10):c.*421C>G	FKBP10	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 11	GBenign
Select item 323197	NM_021939.4(FKBP10):c.*402T>A	FKBP10	Single nucleotide variant (3 prime UTR variant)	Osteogenesis imperfecta type 11	GBenign
Select item 323195	NM_021939.4(FKBP10):c.1723G>A (p.Glu575Lys)	FKBP10 (E575K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 323194	NM_021939.4(FKBP10):c.1613T>C (p.Met538Thr)	FKBP10 (M538T)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11 +1 more	GUncertain significance
Select item 323193	NM_021939.4(FKBP10):c.1374G>A (p.Pro458=)	FKBP10	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 11 +2 more	GBenign
Select item 323192	NM_021939.4(FKBP10):c.1256+14G>C	FKBP10	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 323191	NM_021939.4(FKBP10):c.1256+17dup	FKBP10	Duplication (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 323190	NM_021939.4(FKBP10):c.1098C>T (p.Phe366=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 323188	NM_021939.4(FKBP10):c.984G>A (p.Gln328=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 323187	NM_021939.4(FKBP10):c.825C>A (p.Leu275=)	FKBP10	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 11 +1 more	GConflicting classifications of pathogenicity
Select item 323186	NM_021939.4(FKBP10):c.732A>G (p.Thr244=)	FKBP10	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 11 +1 more	GBenign
Select item 323185	NM_021939.4(FKBP10):c.587G>A (p.Ser196Asn)	FKBP10 (S196N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 323184	NM_021939.4(FKBP10):c.573C>T (p.Phe191=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 323183	NM_021939.4(FKBP10):c.520G>A (p.Gly174Ser)	FKBP10 (G174S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11 +2 more	GUncertain significance
Select item 323182	NM_021939.4(FKBP10):c.505C>G (p.Arg169Gly)	FKBP10 (R169G)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11	GUncertain significance
Select item 323181	NM_021939.4(FKBP10):c.473T>C (p.Val158Ala)	FKBP10 (V158A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 323180	NM_021939.3(FKBP10):c.-177C>G	FKBP10	Single nucleotide variant	Osteogenesis imperfecta type 11	GUncertain significance
Select item 323179	NM_021939.3(FKBP10):c.-183C>G	FKBP10	Single nucleotide variant	Osteogenesis imperfecta type 11	GUncertain significance
Select item 323178	NM_021939.3(FKBP10):c.-207C>T	FKBP10	Single nucleotide variant	Osteogenesis imperfecta type 11	GUncertain significance
Select item 323177	NM_021939.3(FKBP10):c.-267G>A	FKBP10	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 323176	NM_021939.3(FKBP10):c.-303G>A	FKBP10	Single nucleotide variant	Osteogenesis imperfecta type 11	GUncertain significance
Select item 286621	NM_021939.4(FKBP10):c.21C>T (p.Pro7=)	FKBP10	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 11 +1 more	GConflicting classifications of pathogenicity
Select item 261438	NM_021939.4(FKBP10):c.590A>G (p.Lys197Arg)	FKBP10 (K197R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 261437	NM_021939.4(FKBP10):c.1400-4C>G	FKBP10	Single nucleotide variant (intron variant)	Osteogenesis imperfecta +3 more	GBenign/Likely benign
Select item 222952	NM_021939.4(FKBP10):c.976del (p.Met326fs)	FKBP10 (M326fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 198900	NM_021939.4(FKBP10):c.1307T>C (p.Ile436Thr)	FKBP10 (I436T)	Single nucleotide variant (missense variant)	FKBP10-related condition +4 more	GBenign/Likely benign
Select item 196508	NM_021939.4(FKBP10):c.504C>T (p.Pro168=)	FKBP10	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 195370	NM_021939.4(FKBP10):c.246-5C>G	FKBP10	Single nucleotide variant (intron variant)	FKBP10-related condition +4 more	GConflicting classifications of pathogenicity
Select item 193735	NM_021939.4(FKBP10):c.1667G>A (p.Arg556His)	FKBP10 (R556H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 191077	NM_021939.4(FKBP10):c.917+53G>T	FKBP10	Single nucleotide variant (intron variant)	FKBP10-related condition +2 more	GConflicting classifications of pathogenicity
Select item 41473	NM_021939.4(FKBP10):c.337G>A (p.Glu113Lys)	FKBP10 (E113K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 30635	NM_021939.4(FKBP10):c.743dup (p.Gln249fs)	FKBP10 (Q249fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type 11	GPathogenic
Select item 30633	NM_021939.4(FKBP10):c.1276dup (p.Gln426fs)	FKBP10 (Q426fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic

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Items: 96