FKBP9[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 57469	GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3	ADCYAP1R1, AQP1 +85 more	Copy number gain	See cases	GPathogenic
Select item 152941	GRCh38/hg38 7p14.3(chr7:30938370-33400996)x1	ADCYAP1R1, AVL9 +54 more	Copy number loss	See cases	GLikely pathogenic
Select item 151578	GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1	AMPH, ANLN +229 more	Copy number loss	See cases	GPathogenic
Select item 2314213	NM_007270.5(FKBP9):c.29C>A (p.Pro10Gln)	FKBP9, LOC129998218 (P10Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095347	NM_007270.5(FKBP9):c.142C>A (p.Pro48Thr)	FKBP9 (P48T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348944	NM_007270.5(FKBP9):c.212T>G (p.Phe71Cys)	FKBP9 (F71C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278976	NM_007270.5(FKBP9):c.296T>A (p.Val99Asp)	FKBP9 (V152D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278974	NM_007270.5(FKBP9):c.325G>A (p.Val109Met)	FKBP9 (V109M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614859	NM_007270.5(FKBP9):c.427A>G (p.Asn143Asp)	FKBP9 (N143D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095349	NM_007270.5(FKBP9):c.447G>C (p.Gln149His)	FKBP9 (Q149H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278978	NM_007270.5(FKBP9):c.448A>G (p.Ile150Val)	FKBP9 (I150V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312888	NM_007270.5(FKBP9):c.454A>G (p.Thr152Ala)	FKBP9 (T152A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273715	NM_007270.5(FKBP9):c.584C>T (p.Thr195Met)	FKBP9 (T195M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492304	NM_007270.5(FKBP9):c.625G>A (p.Gly209Arg)	FKBP9 (G209R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095350	NM_007270.5(FKBP9):c.651G>C (p.Glu217Asp)	FKBP9 (E270D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485300	NM_007270.5(FKBP9):c.659T>A (p.Ile220Asn)	FKBP9 (I220N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536197	NM_007270.5(FKBP9):c.718G>C (p.Gly240Arg)	FKBP9 (G240R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214936	NM_007270.5(FKBP9):c.718G>A (p.Gly240Ser)	FKBP9 (G240S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095351	NM_007270.5(FKBP9):c.797T>C (p.Val266Ala)	FKBP9 (V319A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095352	NM_007270.5(FKBP9):c.848A>G (p.Tyr283Cys)	FKBP9 (Y336C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278973	NM_007270.5(FKBP9):c.908G>A (p.Arg303His)	FKBP9 (R71H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223206	NM_007270.5(FKBP9):c.911C>T (p.Thr304Met)	FKBP9 (T304M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095353	NM_007270.5(FKBP9):c.946C>T (p.Pro316Ser)	FKBP9 (P84S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471720	NM_007270.5(FKBP9):c.1080T>G (p.His360Gln)	FKBP9 (H128Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552226	NM_007270.5(FKBP9):c.1124C>A (p.Ser375Tyr)	FKBP9 (S375Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281118	NM_007270.5(FKBP9):c.1139C>G (p.Pro380Arg)	FKBP9 (P433R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339408	NM_007270.5(FKBP9):c.1196C>T (p.Ser399Leu)	FKBP9 (S452L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095345	NM_007270.5(FKBP9):c.1325G>A (p.Arg442Gln)	FKBP9 (R442Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095346	NM_007270.5(FKBP9):c.1343C>T (p.Pro448Leu)	FKBP9 (P501L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238000	NM_007270.5(FKBP9):c.1355A>G (p.Tyr452Cys)	FKBP9 (Y220C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263509	NM_007270.5(FKBP9):c.1409A>T (p.Asp470Val)	FKBP9 (D238V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278975	NM_007270.5(FKBP9):c.1455G>A (p.Met485Ile)	FKBP9 (M485I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095348	NM_007270.5(FKBP9):c.1504A>G (p.Lys502Glu)	FKBP9 (K555E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620774	NM_007270.5(FKBP9):c.1534G>A (p.Glu512Lys)	FKBP9 (E512K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278977	NM_007270.5(FKBP9):c.1561G>A (p.Val521Met)	FKBP9 (V289M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535851	NM_007270.5(FKBP9):c.1624T>C (p.Phe542Leu)	FKBP9 (F595L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809379	GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1	ADCYAP1R1, AQP1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703687	GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069)	ADCYAP1R1, AQP1 +55 more	Copy number loss	Cyclical vomiting syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527345	GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	ADCYAP1R1, AMPH +53 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 814947	GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1	FKBP14, HNRNPA2B1 +61 more	Copy number loss	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563420	GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3	PPP1R17, NPSR1-AS1 +51 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395336	GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1	AEBP1, AMPH +54 more	Copy number loss	See cases	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 55