TSPAN9[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 152732	GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)x1	ADIPOR2, B4GALNT3 +142 more	Copy number loss	See cases	GPathogenic
Select item 152450	GRCh38/hg38 12p13.33-13.32(chr12:54427-4004912)x1	ADIPOR2, B4GALNT3 +147 more	Copy number loss	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 149561	GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1	ADIPOR2, B4GALNT3 +170 more	Copy number loss	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 57044	GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1	ADIPOR2, B4GALNT3 +146 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 147690	GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1	ADIPOR2, AKAP3 +218 more	Copy number loss	See cases	GPathogenic
Select item 59798	GRCh38/hg38 12p13.33-13.32(chr12:199896-3284963)x3	ADIPOR2, B4GALNT3 +126 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 155290	GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3	ADIPOR2, AKAP3 +223 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 153115	GRCh38/hg38 12p13.33-13.32(chr12:2188620-3361190)x3	CACNA1C, CACNA1C-AS1 +42 more	Copy number gain	See cases	GUncertain significance
Select item 58983	GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1	AKAP3, CACNA1C +91 more	Copy number loss	See cases	GPathogenic
Select item 153100	GRCh38/hg38 12p13.33-13.32(chr12:2619985-3489688)x3	CACNA1C, CACNA1C-AS1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 3183854	NM_006675.5(TSPAN9):c.22T>C (p.Cys8Arg)	TSPAN9 (C8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528201	NM_006675.5(TSPAN9):c.60C>G (p.Phe20Leu)	TSPAN9 (F20L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226409	NM_006675.5(TSPAN9):c.94A>G (p.Ile32Val)	TSPAN9 (I32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532998	NM_006675.5(TSPAN9):c.164A>C (p.Asn55Thr)	TSPAN9 (N55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546291	NM_006675.5(TSPAN9):c.165C>A (p.Asn55Lys)	TSPAN9 (N55K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379261	NM_006675.5(TSPAN9):c.166C>A (p.Leu56Met)	TSPAN9 (L56M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183852	NM_006675.5(TSPAN9):c.175G>A (p.Ala59Thr)	TSPAN9 (A59T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183853	NM_006675.5(TSPAN9):c.179T>C (p.Ile60Thr)	TSPAN9 (I60T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551020	NM_006675.5(TSPAN9):c.245T>G (p.Leu82Arg)	TSPAN9 (L82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183855	NM_006675.5(TSPAN9):c.260T>G (p.Phe87Cys)	TSPAN9 (F87C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462232	NM_006675.5(TSPAN9):c.437G>A (p.Arg146Gln)	TSPAN9 (R146Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183856	NM_006675.5(TSPAN9):c.541G>A (p.Ala181Thr)	TSPAN9 (A181T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2263256	NM_006675.5(TSPAN9):c.617G>T (p.Gly206Val)	TSPAN9 (G206V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183857	NM_006675.5(TSPAN9):c.630G>A (p.Met210Ile)	TSPAN9 (M210I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379939	NM_006675.5(TSPAN9):c.641T>C (p.Ile214Thr)	TSPAN9 (I214T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455720	NM_006675.5(TSPAN9):c.661G>A (p.Ala221Thr)	TSPAN9 (A221T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063259	GRCh37/hg19 12p13.33-13.31(chr12:2246103-5406692)x1	AKAP3, CACNA1C +23 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2685429	GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1	ADIPOR2, AKAP3 +40 more	Copy number loss	not provided	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1809180	GRCh37/hg19 12p13.33-13.32(chr12:3112503-3318440)x3	TEAD4, TSPAN9	Copy number gain	not provided	GUncertain significance
Select item 1807885	GRCh37/hg19 12p13.33-13.32(chr12:3282099-3845523)x3	CRACR2A, PRMT8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527677	GRCh37/hg19 12p13.33-13.32(chr12:2790077-5325700)	AKAP3, C12orf4 +23 more	Copy number loss	not specified	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	ACRBP, ACSM4 +106 more	Copy number gain	Small hand +6 more	GPathogenic
Select item 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	not provided	GPathogenic
Select item 979959	GRCh37/hg19 12p13.33-13.32(chr12:3282098-3845523)x3	CRACR2A, TSPAN9 +1 more	Copy number gain	not provided	GUncertain significance
Select item 979958	GRCh37/hg19 12p13.33-13.32(chr12:191242-4683495)x1	ADIPOR2, B4GALNT3 +33 more	Copy number loss	not provided	GPathogenic
Select item 815501	GRCh37/hg19 12p13.33-13.32(chr12:3112502-3318440)x3	TEAD4, TSPAN9	Copy number gain	not provided	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 687115	GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1	ADIPOR2, AKAP3 +44 more	Copy number loss	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563988	GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	ACRBP, ACSM4 +101 more	Copy number gain	not provided	GPathogenic
Select item 563987	GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1	ADIPOR2, AKAP3 +43 more	Copy number loss	not provided	GPathogenic
Select item 563986	GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1	ADIPOR2, AKAP3 +42 more	Copy number loss	not provided	GPathogenic
Select item 563985	GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1	ADIPOR2, AKAP3 +42 more	Copy number loss	not provided	GPathogenic
Select item 563982	GRCh37/hg19 12p13.33-13.32(chr12:173786-4105910)x1	ADIPOR2, B4GALNT3 +27 more	Copy number loss	not provided	GPathogenic
Select item 563952	GRCh37/hg19 12p13.33-13.32(chr12:3206887-3735847)x3	TSPAN9, PRMT8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 563931	GRCh37/hg19 12p13.33(chr12:2989329-3299002)x3	RHNO1, TULP3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 523246	GRCh37/hg19 12p13.33-13.32(chr12:3288857-4004582)	PARP11, CRACR2A +2 more	Copy number loss	Global developmental delay +1 more	GUncertain significance
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 442073	GRCh37/hg19 12p13.33-13.32(chr12:3256714-4980727)x1	AKAP3, CCND2 +13 more	Copy number loss	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 441847	GRCh37/hg19 12p13.33-13.32(chr12:2245848-3614555)x3	CACNA1C, FKBP4 +8 more	Copy number gain	See cases	GUncertain significance
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253551	GRCh37/hg19 12p13.33-13.32(chr12:222888-3931052)x1	ADIPOR2, B4GALNT3 +27 more	Copy number loss	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 85