ClinVar for Gene (Select 10100) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329650	NM_005725.6(TSPAN2):c.434T>C (p.Phe145Ser)	TSPAN2 (F120S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183820	NM_005725.6(TSPAN2):c.599C>T (p.Thr200Met)	TSPAN2 (T175M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2602968	NM_005725.6(TSPAN2):c.638C>T (p.Ala213Val)	TSPAN2 (A188V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590238	NM_005725.6(TSPAN2):c.109C>T (p.Arg37Trp)	TSPAN2 (R37W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460687	NM_005725.6(TSPAN2):c.593G>T (p.Gly198Val)	TSPAN2 (G173V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424476	NC_000001.10:g.(?_113456513)_(116311162_?)dup	AMPD1, AP4B1 +23 more	Duplication	RASopathy	GUncertain significance
Select item 2372490	NM_005725.6(TSPAN2):c.222C>A (p.Phe74Leu)	TSPAN2 (F74L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338025	NM_005725.6(TSPAN2):c.427A>G (p.Ile143Val)	TSPAN2 (I118V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327565	NM_005725.6(TSPAN2):c.103T>C (p.Trp35Arg)	TSPAN2 (W35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220739	NM_005725.6(TSPAN2):c.254A>C (p.Gln85Pro)	TSPAN2 (Q85P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214885	NM_005725.6(TSPAN2):c.619A>T (p.Ser207Cys)	TSPAN2 (S207C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 814118	GRCh37/hg19 1p13.2-13.1(chr1:114024461-116189135)x1	VANGL1, TSHB +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 791110	NM_005725.6(TSPAN2):c.353G>T (p.Arg118Leu)	TSPAN2 (R118L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769241	NM_005725.6(TSPAN2):c.271-9C>T	TSPAN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 22