TSPAN18[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 154372	GRCh38/hg38 11p12-11.2(chr11:39684826-44845260)x1	ACCS, ACCSL +72 more	Copy number loss	See cases	GPathogenic
Select item 144293	GRCh38/hg38 11p12-11.2(chr11:40688674-44913409)x3	ACCS, ACCSL +74 more	Copy number gain	See cases	GUncertain significance
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 154181	GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1	LOC132089937, LOC132089938 +112 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 1707462	Single allele	ACCS, ACCSL +64 more	Duplication	not specified	GUncertain significance
Select item 58891	GRCh38/hg38 11p11.2(chr11:44136593-46121139)x1	ALX4, CD82 +79 more	Copy number loss	See cases	GPathogenic
Select item 2303231	NM_130783.5(TSPAN18):c.14G>A (p.Cys5Tyr)	TSPAN18 (C5Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388078	NM_130783.5(TSPAN18):c.88A>T (p.Ile30Phe)	TSPAN18 (I30F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183815	NM_130783.5(TSPAN18):c.104T>C (p.Met35Thr)	TSPAN18 (M35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713410	NM_130783.5(TSPAN18):c.116C>T (p.Thr39Ile)	TSPAN18 (T39I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3048045	NM_130783.5(TSPAN18):c.117C>T (p.Thr39=)	TSPAN18	Single nucleotide variant (synonymous variant)	TSPAN18-related disorder	GLikely benign
Select item 2235935	NM_130783.5(TSPAN18):c.118G>A (p.Gly40Ser)	TSPAN18 (G40S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380378	NM_130783.5(TSPAN18):c.133G>A (p.Val45Met)	TSPAN18 (V45M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398569	NM_130783.5(TSPAN18):c.187G>T (p.Gly63Cys)	TSPAN18 (G63C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033762	NM_130783.5(TSPAN18):c.228C>T (p.Ala76=)	TSPAN18	Single nucleotide variant (synonymous variant)	TSPAN18-related disorder	GLikely benign
Select item 2324903	NM_130783.5(TSPAN18):c.232C>T (p.Arg78Cys)	TSPAN18 (R78C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520099	NM_130783.5(TSPAN18):c.262T>G (p.Phe88Val)	TSPAN18 (F88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045096	NM_130783.5(TSPAN18):c.276G>T (p.Leu92=)	TSPAN18	Single nucleotide variant (synonymous variant)	TSPAN18-related disorder	GLikely benign
Select item 2340826	NM_130783.5(TSPAN18):c.328G>A (p.Glu110Lys)	TSPAN18 (E110K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059513	NM_130783.5(TSPAN18):c.397G>A (p.Val133Ile)	TSPAN18 (V133I)	Single nucleotide variant (missense variant)	TSPAN18-related disorder	GBenign
Select item 3329647	NM_130783.5(TSPAN18):c.419C>T (p.Ser140Leu)	TSPAN18 (S140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057047	NM_130783.5(TSPAN18):c.432+10G>A	TSPAN18	Single nucleotide variant (intron variant)	TSPAN18-related disorder	GBenign
Select item 2238177	NM_130783.5(TSPAN18):c.460G>A (p.Glu154Lys)	TSPAN18 (E154K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224919	NM_130783.5(TSPAN18):c.556G>A (p.Gly186Arg)	TSPAN18 (G186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594744	NM_130783.5(TSPAN18):c.571C>T (p.Arg191Trp)	TSPAN18 (R191W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270012	NM_130783.5(TSPAN18):c.575A>C (p.Glu192Ala)	TSPAN18 (E192A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400414	NM_130783.5(TSPAN18):c.583C>T (p.Leu195Phe)	TSPAN18 (L195F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035169	NM_130783.5(TSPAN18):c.585C>T (p.Leu195=)	TSPAN18	Single nucleotide variant (synonymous variant)	TSPAN18-related disorder	GBenign
Select item 2588556	NM_130783.5(TSPAN18):c.626C>T (p.Thr209Met)	TSPAN18 (T209M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768442	NM_130783.5(TSPAN18):c.654C>T (p.Tyr218=)	TSPAN18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3183817	NM_130783.5(TSPAN18):c.692C>T (p.Ala231Val)	TSPAN18 (A231V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329648	NM_130783.5(TSPAN18):c.697G>A (p.Glu233Lys)	TSPAN18 (E233K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521886	NM_130783.5(TSPAN18):c.733C>T (p.Arg245Trp)	TSPAN18 (R245W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703555	GRCh37/hg19 11p11.2(chr11:43769957-44952669)	ACCS, ACCSL +7 more	Copy number loss	Potocki-Shaffer syndrome	GPathogenic
Select item 1340048	GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1	ACCS, ACCSL +33 more	Copy number loss	not provided	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979916	GRCh37/hg19 11p11.2(chr11:44266593-46123796)x4	ALX4, CD82 +13 more	Copy number gain	not provided	GUncertain significance
Select item 815432	GRCh37/hg19 11p11.2(chr11:44568649-44842619)x3	CD82, TSPAN18	Copy number gain	not provided	GUncertain significance
Select item 815431	GRCh37/hg19 11p11.2(chr11:44502129-44788186)x3	CD82, TSPAN18	Copy number gain	not provided	GUncertain significance
Select item 815429	GRCh37/hg19 11p11.2(chr11:43664817-44889240)x3	CD82, C11orf96 +7 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 47