TSPAN8[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	LOC130008261, LOC130008262 +142 more	Copy number loss	See cases	GLikely pathogenic
Select item 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +126 more	Copy number loss	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +164 more	Copy number loss	See cases	GPathogenic
Select item 2346715	NM_004616.3(TSPAN8):c.703G>A (p.Gly235Arg)	TSPAN8 (G235R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779949	NM_004616.3(TSPAN8):c.661-6C>T	TSPAN8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2607865	NM_004616.3(TSPAN8):c.608C>A (p.Ala203Glu)	TSPAN8 (A203E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217457	NM_004616.3(TSPAN8):c.536G>C (p.Arg179Thr)	TSPAN8 (R179T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 221306	NM_004616.3(TSPAN8):c.528T>A (p.Asp176Glu)	TSPAN8 (D176E)	Single nucleotide variant (missense variant)	Breast ductal adenocarcinoma	GUncertain significance
Select item 3329660	NM_004616.3(TSPAN8):c.487A>G (p.Asn163Asp)	TSPAN8 (N163D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274298	NM_004616.3(TSPAN8):c.457G>A (p.Gly153Ser)	TSPAN8 (G153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183851	NM_004616.3(TSPAN8):c.420A>C (p.Glu140Asp)	TSPAN8 (E140D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303146	NM_004616.3(TSPAN8):c.346A>G (p.Ile116Val)	TSPAN8 (I116V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328175	NM_004616.3(TSPAN8):c.269T>C (p.Ile90Thr)	TSPAN8 (I90T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779950	NM_004616.3(TSPAN8):c.258G>A (p.Leu86=)	TSPAN8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2465091	NM_004616.3(TSPAN8):c.245G>A (p.Arg82His)	TSPAN8 (R82H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395312	NM_004616.3(TSPAN8):c.226G>A (p.Gly76Ser)	TSPAN8 (G76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779951	NM_004616.3(TSPAN8):c.171C>T (p.Asp57=)	TSPAN8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710174	NM_004616.3(TSPAN8):c.160G>A (p.Val54Ile)	TSPAN8 (V54I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710022	NM_004616.3(TSPAN8):c.103G>A (p.Val35Ile)	TSPAN8 (V35I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2305007	NM_004616.3(TSPAN8):c.96G>T (p.Trp32Cys)	TSPAN8 (W32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288786	NM_004616.3(TSPAN8):c.91A>G (p.Ile31Val)	TSPAN8 (I31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242697	NM_004616.3(TSPAN8):c.10G>C (p.Val4Leu)	TSPAN8 (V4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063262	GRCh37/hg19 12q15-21.1(chr12:69498859-74073631)x1	BEST3, CCT2 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340527	GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1	TBC1D15, THAP2 +25 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 688046	GRCh37/hg19 12q15-21.1(chr12:71081550-73526446)x1	LGR5, PTPRR +8 more	Copy number loss	not provided	GUncertain significance
Select item 443535	GRCh37/hg19 12q15-21.1(chr12:70575476-73344659)x1	CNOT2, KCNMB4 +11 more	Copy number loss	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 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 31