FKBP10[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 1266414	NC_000017.11:g.41812449T>G	FKBP10	Single nucleotide variant	not provided	GBenign
Select item 675916	NM_021939.3(FKBP10):c.-412C>G	FKBP10	Single nucleotide variant	not provided	GLikely benign
Select item 1249863	NC_000017.11:g.41812678T>C	FKBP10	Single nucleotide variant	not provided	GBenign
Select item 323176	NM_021939.3(FKBP10):c.-303G>A	FKBP10	Single nucleotide variant	Osteogenesis imperfecta type 11	GUncertain significance
Select item 892177	NM_021939.3(FKBP10):c.-271G>C	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 323178	NM_021939.3(FKBP10):c.-207C>T	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 323180	NM_021939.3(FKBP10):c.-177C>G	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 888741	NM_021939.3(FKBP10):c.-35C>A	FKBP10	Single nucleotide variant	Osteogenesis imperfecta type 11	GUncertain significance
Select item 871073	NM_021939.4(FKBP10):c.-8_78del (p.Met1fs)	FKBP10 (M1fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1496467	NM_021939.4(FKBP10):c.4T>A (p.Phe2Ile)	FKBP10 (F2I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031705	NM_021939.4(FKBP10):c.9del (p.Ala4fs)	FKBP10 (A4fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2806224	NM_021939.4(FKBP10):c.14dup (p.Ser8fs)	FKBP10 (S8fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1457018	NM_021939.4(FKBP10):c.21dup (p.Ser8fs)	FKBP10 (S8fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type 11 +1 more	GPathogenic/Likely pathogenic
Select item 2907756	NM_021939.4(FKBP10):c.15C>T (p.Gly5=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1197422	NM_021939.4(FKBP10):c.15C>A (p.Gly5=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1909597	NM_021939.4(FKBP10):c.16C>G (p.Pro6Ala)	FKBP10 (P6A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2853656	NM_021939.4(FKBP10):c.18C>T (p.Pro6=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870968	NM_021939.4(FKBP10):c.21C>G (p.Pro7=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835164	NM_021939.4(FKBP10):c.21C>A (p.Pro7=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 286621	NM_021939.4(FKBP10):c.21C>T (p.Pro7=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2901476	NM_021939.4(FKBP10):c.30C>T (p.Ser10=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2242492	NM_021939.4(FKBP10):c.34C>T (p.Leu12Phe)	FKBP10 (L12F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2125314	NM_021939.4(FKBP10):c.42C>A (p.Leu14=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1571291	NM_021939.4(FKBP10):c.42C>T (p.Leu14=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 218789	NM_021939.4(FKBP10):c.44C>G (p.Pro15Arg)	FKBP10 (P15R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2999982	NM_021939.4(FKBP10):c.45C>G (p.Pro15=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1562727	NM_021939.4(FKBP10):c.48G>A (p.Leu16=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906074	NM_021939.4(FKBP10):c.61C>T (p.Leu21=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 520941	NM_021939.4(FKBP10):c.77C>T (p.Ala26Val)	FKBP10 (A26V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2785629	NM_021939.4(FKBP10):c.78C>T (p.Ala26=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1330996	NM_021939.4(FKBP10):c.81G>A (p.Val27=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1414626	NM_021939.4(FKBP10):c.83G>A (p.Gly28Glu)	FKBP10 (G28E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1345876	NM_021939.4(FKBP10):c.86G>A (p.Arg29Lys)	FKBP10 (R29K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2108842	NM_021939.4(FKBP10):c.87G>A (p.Arg29=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013216	NM_021939.4(FKBP10):c.90G>T (p.Gly30=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809468	NM_021939.4(FKBP10):c.93G>A (p.Leu31=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2263676	NM_021939.4(FKBP10):c.112G>T (p.Gly38Trp)	FKBP10 (G38W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1365328	NM_021939.4(FKBP10):c.113G>A (p.Gly38Glu)	FKBP10 (G38E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1346941	NM_021939.4(FKBP10):c.115G>A (p.Gly39Ser)	FKBP10 (G39S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3278928	NM_021939.4(FKBP10):c.118C>T (p.Pro40Ser)	FKBP10 (P40S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 30632	NM_021939.4(FKBP10):c.122_156del (p.Leu41fs)	FKBP10 (L41fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 12	GPathogenic
Select item 1687196	NM_021939.4(FKBP10):c.124G>T (p.Glu42Ter)	FKBP10 (E42*)	Single nucleotide variant (nonsense)	Bruck syndrome 1	GPathogenic
Select item 1362068	NM_021939.4(FKBP10):c.131T>C (p.Val44Ala)	FKBP10 (V44A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2876662	NM_021939.4(FKBP10):c.138C>A (p.Ile46=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2572449	NM_021939.4(FKBP10):c.138C>G (p.Ile46Met)	FKBP10 (I46M)	Single nucleotide variant (missense variant)	Bruck syndrome 1	GUncertain significance
Select item 2846887	NM_021939.4(FKBP10):c.151_152insACCCCACA (p.Ile51fs)	FKBP10 (I51fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2968952	NM_021939.4(FKBP10):c.150C>T (p.His50=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998723	NM_021939.4(FKBP10):c.168C>G (p.Pro56=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1517185	NM_021939.4(FKBP10):c.172G>A (p.Glu58Lys)	FKBP10 (E58K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 502436	NM_021939.4(FKBP10):c.174A>G (p.Glu58=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 3095286	NM_021939.4(FKBP10):c.176T>C (p.Val59Ala)	FKBP10 (V59A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1683709	NM_021939.4(FKBP10):c.179A>C (p.Gln60Pro)	FKBP10 (Q60P)	Single nucleotide variant (missense variant)	Bruck syndrome 1	GLikely pathogenic
Select item 2730091	NM_021939.4(FKBP10):c.180G>A (p.Gln60=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858294	NM_021939.4(FKBP10):c.186_187insTG (p.Asp63fs)	FKBP10 (D63fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2835985	NM_021939.4(FKBP10):c.186G>T (p.Gly62=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1661395	NM_021939.4(FKBP10):c.186G>A (p.Gly62=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1448450	NM_021939.4(FKBP10):c.205T>C (p.Tyr69His)	FKBP10 (Y69H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827995	NM_021939.4(FKBP10):c.207C>T (p.Tyr69=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1194857	NM_021939.4(FKBP10):c.209A>G (p.Asn70Ser)	FKBP10 (N70S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723995	NM_021939.4(FKBP10):c.210C>T (p.Asn70=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1505420	NM_021939.4(FKBP10):c.215C>T (p.Thr72Ile)	FKBP10 (T72I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995855	NM_021939.4(FKBP10):c.226G>A (p.Gly76Ser)	FKBP10 (G76S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1573471	NM_021939.4(FKBP10):c.237T>C (p.Phe79=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2428408	NM_021939.4(FKBP10):c.245+8C>T	FKBP10	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2864687	NM_021939.4(FKBP10):c.245+9G>A	FKBP10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 753955	NM_021939.4(FKBP10):c.245+9G>C	FKBP10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848150	NM_021939.4(FKBP10):c.245+12T>G	FKBP10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815297	NM_021939.4(FKBP10):c.245+16C>T	FKBP10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516227	NM_021939.4(FKBP10):c.245+18C>T	FKBP10	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2033425	NM_021939.4(FKBP10):c.245+801_245+802insTGGGTGTGGGGCGCCTCATCACTGGCATGGACCGAGGCCTCATGGGCATGTGTGTCAACGAGCGGCGACGCCTCATTGTGCCTCCCCACCTGGGCTATGGGAGCATCGGCCTGGGTGAGA	FKBP10	Insertion (intron variant)	not provided	GLikely benign
Select item 682701	NM_021939.4(FKBP10):c.246-245A>G	FKBP10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200203	NM_021939.4(FKBP10):c.246-113_246-91del	FKBP10	Deletion (intron variant)	not provided	GLikely benign
Select item 2009825	NM_021939.4(FKBP10):c.246-18C>A	FKBP10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551888	NM_021939.4(FKBP10):c.246-18C>T	FKBP10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832099	NM_021939.4(FKBP10):c.246-15T>C	FKBP10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2129579	NM_021939.4(FKBP10):c.246-12C>T	FKBP10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975908	NM_021939.4(FKBP10):c.246-11T>C	FKBP10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833033	NM_021939.4(FKBP10):c.246-11del	FKBP10	Deletion (intron variant)	not provided	GLikely benign
Select item 1187397	NM_021939.4(FKBP10):c.246-3dup	FKBP10	Duplication (intron variant)	not provided	GBenign/Likely benign
Select item 2717324	NM_021939.4(FKBP10):c.246-10C>T	FKBP10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668483	NM_021939.4(FKBP10):c.246-3del	FKBP10	Deletion (intron variant)	not provided	GBenign/Likely benign
Select item 1661024	NM_021939.4(FKBP10):c.246-8C>A	FKBP10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992788	NM_021939.4(FKBP10):c.246-7C>T	FKBP10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964996	NM_021939.4(FKBP10):c.246-7C>A	FKBP10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976280	NM_021939.4(FKBP10):c.246-6C>A	FKBP10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811661	NM_021939.4(FKBP10):c.246-6C>T	FKBP10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841561	NM_021939.4(FKBP10):c.246-5C>T	FKBP10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906776	NM_021939.4(FKBP10):c.246-5C>A	FKBP10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 195370	NM_021939.4(FKBP10):c.246-5C>G	FKBP10	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2979248	NM_021939.4(FKBP10):c.246-4C>A	FKBP10	Single nucleotide variant (intron variant)	not provided	GLikely benign

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