TSPAN11[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +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 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 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 2478805	NM_001370302.1(TSPAN11):c.80T>C (p.Phe27Ser)	TSPAN11 (F27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183800	NM_001370302.1(TSPAN11):c.187A>T (p.Ile63Phe)	TSPAN11 (I53F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183801	NM_001370302.1(TSPAN11):c.200C>T (p.Ala67Val)	TSPAN11 (A57V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496102	NM_001370302.1(TSPAN11):c.256C>T (p.Arg86Trp)	TSPAN11 (R76W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545938	NM_001370302.1(TSPAN11):c.257G>A (p.Arg86Gln)	TSPAN11 (R86Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2482659	NM_001370302.1(TSPAN11):c.312G>C (p.Glu104Asp)	TSPAN11 (E104D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329641	NM_001370302.1(TSPAN11):c.332C>T (p.Ala111Val)	TSPAN11 (A111V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391404	NM_001370302.1(TSPAN11):c.412G>A (p.Gly138Arg)	TSPAN11 (G128R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3329642	NM_001370302.1(TSPAN11):c.416C>G (p.Ala139Gly)	TSPAN11 (A129G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642815	NM_001370302.1(TSPAN11):c.457-7C>A	TSPAN11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2284802	NM_001370302.1(TSPAN11):c.469G>A (p.Gly157Arg)	TSPAN11 (G147R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468589	NM_001370302.1(TSPAN11):c.518G>A (p.Arg173Gln)	TSPAN11 (R163Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2368395	NM_001370302.1(TSPAN11):c.523G>A (p.Ala175Thr)	TSPAN11 (A175T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240476	NM_001370302.1(TSPAN11):c.556A>G (p.Lys186Glu)	TSPAN11 (K186E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462952	NM_001370302.1(TSPAN11):c.652G>A (p.Asp218Asn)	TSPAN11 (D208N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	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 979336	GRCh37/hg19 12p11.21(chr12:30931389-31247803)x3	DDX11, TSPAN11	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 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 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 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 443854	GRCh37/hg19 12p11.22-11.1(chr12:29579030-34835837)x3	ALG10, AMN1 +17 more	Copy number gain	See cases	GLikely pathogenic
Select item 443519	GRCh37/hg19 12p11.22-q12(chr12:29123400-40956186)x3	ABCD2, ALG10 +27 more	Copy number gain	See cases	GLikely pathogenic
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 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 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	GALNT8, H2AJ +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 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: 44