"GeneDx"[submitter] AND "FKBP10"[gene] - ClinVar

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

Search results

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 323177	NM_021939.3(FKBP10):c.-267G>A	FKBP10	Single nucleotide variant	not provided +1 more	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 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 502436	NM_021939.4(FKBP10):c.174A>G (p.Glu58=)	FKBP10	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 516227	NM_021939.4(FKBP10):c.245+18C>T	FKBP10	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 1187397	NM_021939.4(FKBP10):c.246-3dup	FKBP10	Duplication (intron variant)	not provided	GBenign/Likely benign
Select item 668483	NM_021939.4(FKBP10):c.246-3del	FKBP10	Deletion (intron variant)	not provided	GBenign/Likely benign
Select item 195370	NM_021939.4(FKBP10):c.246-5C>G	FKBP10	Single nucleotide variant (intron variant)	Osteogenesis imperfecta +3 more	GConflicting classifications of pathogenicity
Select item 870118	NM_021939.4(FKBP10):c.391+1G>A	FKBP10	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 669647	NM_021939.4(FKBP10):c.391+181T>C	FKBP10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204100	NM_021939.4(FKBP10):c.392-138dup	FKBP10	Duplication (intron variant)	not provided	GLikely benign
Select item 504221	NM_021939.4(FKBP10):c.392-2A>G	FKBP10	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic/Likely pathogenic
Select item 890440	NM_021939.4(FKBP10):c.408G>A (p.Pro136=)	FKBP10	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 11 +1 more	GUncertain significance
Select item 196508	NM_021939.4(FKBP10):c.504C>T (p.Pro168=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 423179	NM_021939.4(FKBP10):c.506G>C (p.Arg169Pro)	FKBP10 (R169P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 323183	NM_021939.4(FKBP10):c.520G>A (p.Gly174Ser)	FKBP10 (G174S)	Single nucleotide variant (missense variant)	Bruck syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 514256	NM_021939.4(FKBP10):c.537C>T (p.Tyr179=)	FKBP10	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 680922	NM_021939.4(FKBP10):c.582-11A>G	FKBP10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 261438	NM_021939.4(FKBP10):c.590A>G (p.Lys197Arg)	FKBP10 (K197R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11 +2 more	GConflicting classifications of pathogenicity
Select item 808265	NM_021939.4(FKBP10):c.595G>A (p.Gly199Ser)	FKBP10 (G199S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2197723	NM_021939.4(FKBP10):c.613G>A (p.Val205Ile)	FKBP10 (V205I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1286055	NM_021939.4(FKBP10):c.727+296_727+297insC	FKBP10	Insertion (intron variant)	not provided	GBenign
Select item 682703	NM_021939.4(FKBP10):c.728-298C>T	FKBP10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671517	NM_021939.4(FKBP10):c.728-276T>C	FKBP10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283416	NM_021939.4(FKBP10):c.728-237_728-236dup	FKBP10	Duplication (intron variant)	not provided	GBenign
Select item 1186278	NM_021939.4(FKBP10):c.728-255C>A	FKBP10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183130	NM_021939.4(FKBP10):c.728-236dup	FKBP10	Duplication (intron variant)	not provided	GBenign
Select item 1248842	NM_021939.4(FKBP10):c.728-159T>C	FKBP10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2502712	NM_021939.4(FKBP10):c.731C>T (p.Thr244Ile)	FKBP10 (T244I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 438659	NM_021939.4(FKBP10):c.831dup (p.Gly278fs)	FKBP10 (G278fs)	Duplication (frameshift variant)	Osteogenesis imperfecta type 11 +6 more	GPathogenic
Select item 503914	NM_021939.4(FKBP10):c.831del (p.Gly278fs)	FKBP10 (G278fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 514241	NM_021939.4(FKBP10):c.828C>G (p.Pro276=)	FKBP10	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2060326	NM_021939.4(FKBP10):c.829C>A (p.Pro277Thr)	FKBP10 (P277T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618130	NM_021939.4(FKBP10):c.850G>A (p.Gly284Arg)	FKBP10 (G284R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11 +3 more	GConflicting classifications of pathogenicity
Select item 208427	NM_021939.4(FKBP10):c.877_879del (p.Tyr293del)	FKBP10 (Y293del)	Deletion (inframe_deletion)	not provided +1 more	GPathogenic
Select item 2506777	NM_021939.4(FKBP10):c.902C>A (p.Thr301Asn)	FKBP10 (T301N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699881	NM_021939.4(FKBP10):c.958G>T (p.Gly320Cys)	FKBP10 (G320C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310874	NM_021939.4(FKBP10):c.1004T>C (p.Met335Thr)	FKBP10 (M335T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313398	NM_021939.4(FKBP10):c.1015C>T (p.Arg339Trp)	FKBP10 (R339W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2505593	NM_021939.4(FKBP10):c.1049G>C (p.Gly350Ala)	FKBP10 (G350A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 674878	NM_021939.4(FKBP10):c.1063+97G>A	FKBP10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183804	NM_021939.4(FKBP10):c.1064-250G>A	FKBP10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 810921	NM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu)	FKBP10 (S419L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 323191	NM_021939.4(FKBP10):c.1256+17dup	FKBP10	Duplication (intron variant)	Bruck syndrome 1 +4 more	GBenign/Likely benign
Select item 323192	NM_021939.4(FKBP10):c.1256+14G>C	FKBP10	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 11 +2 more	GBenign/Likely benign
Select item 670006	NM_021939.4(FKBP10):c.1256+164G>A	FKBP10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230229	NM_021939.4(FKBP10):c.1257-130G>A	FKBP10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 733387	NM_021939.4(FKBP10):c.1290C>T (p.Leu430=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 198900	NM_021939.4(FKBP10):c.1307T>C (p.Ile436Thr)	FKBP10 (I436T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 618129	NM_021939.4(FKBP10):c.1363A>G (p.Ile455Val)	FKBP10 (I455V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11 +1 more	GConflicting classifications of pathogenicity
Select item 323193	NM_021939.4(FKBP10):c.1374G>A (p.Pro458=)	FKBP10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1294294	NM_021939.4(FKBP10):c.1399+50_1399+51del	FKBP10	Deletion (intron variant)	not provided	GBenign
Select item 1275413	NM_021939.4(FKBP10):c.1399+48_1399+51del	FKBP10	Deletion (intron variant)	not provided	GBenign
Select item 1251834	NM_021939.4(FKBP10):c.1399+49_1399+51del	FKBP10	Deletion (intron variant)	not provided	GBenign
Select item 694418	NM_021939.4(FKBP10):c.1399+51del	FKBP10	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1197629	NM_021939.4(FKBP10):c.1399+84A>C	FKBP10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682715	NM_021939.4(FKBP10):c.1400-172A>G	FKBP10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674879	NM_021939.4(FKBP10):c.1400-44C>T	FKBP10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261437	NM_021939.4(FKBP10):c.1400-4C>G	FKBP10	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 11 +3 more	GBenign/Likely benign
Select item 720059	NM_021939.4(FKBP10):c.1546G>A (p.Glu516Lys)	FKBP10 (E516K)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1490007	NM_021939.4(FKBP10):c.1621C>T (p.Gln541Ter)	FKBP10 (Q541*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 193735	NM_021939.4(FKBP10):c.1667G>A (p.Arg556His)	FKBP10 (R556H)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 11 +3 more	GUncertain significance
Select item 1437696	NM_021939.4(FKBP10):c.1730G>A (p.Arg577Gln)	FKBP10 (R577Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 515443	NM_021939.4(FKBP10):c.1734C>T (p.Val578=)	FKBP10	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +1 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 72