TSPAN5[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 151714	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	LOC129992850, LOC129992851 +123 more	Copy number loss	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 57375	GRCh38/hg38 4q22.3-23(chr4:97580187-98539015)x3	LOC121053189, LOC123477791 +8 more	Copy number gain	See cases	GUncertain significance
Select item 57892	GRCh38/hg38 4q23(chr4:97972342-100038125)x3	ADH1A, ADH1B +59 more	Copy number gain	See cases	GUncertain significance
Select item 710954	NM_005723.4(TSPAN5):c.742-10C>T	TSPAN5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3183846	NM_005723.4(TSPAN5):c.610G>A (p.Ala204Thr)	TSPAN5 (A204T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786042	NM_005723.4(TSPAN5):c.555C>T (p.Ser185=)	TSPAN5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2412331	NM_005723.4(TSPAN5):c.325G>A (p.Gly109Arg)	TSPAN5 (G109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311135	NM_005723.4(TSPAN5):c.320C>T (p.Thr107Ile)	TSPAN5 (T107I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366231	NM_005723.4(TSPAN5):c.286G>A (p.Val96Met)	TSPAN5 (V96M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161639	NM_005723.4(TSPAN5):c.268C>A (p.Leu90Ile)	TSPAN5 (L90I)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2221717	NM_005723.4(TSPAN5):c.125A>G (p.Asn42Ser)	TSPAN5 (N42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062757	GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1	ADH1A, ADH1B +39 more	Copy number loss	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 1808916	GRCh37/hg19 4q23(chr4:98801255-99413684)x1	RAP1GDS1, STPG2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1340302	GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3	ADH1A, ADH1B +55 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 980109	GRCh37/hg19 4q22.2-24(chr4:94692345-101308220)x1	RAP1GDS1, UNC5C +26 more	Copy number loss	not provided	GLikely pathogenic
Select item 687329	GRCh37/hg19 4q23(chr4:99513451-99603864)x3	TSPAN5	Copy number gain	not provided	GUncertain significance
Select item 686424	GRCh37/hg19 4q23(chr4:99521332-99600079)x3	TSPAN5	Copy number gain	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 443286	GRCh37/hg19 4q22.1-24(chr4:92201567-103043808)x1	ADH1A, ADH1B +30 more	Copy number loss	See cases	GPathogenic
Select item 442315	GRCh37/hg19 4q22.3-23(chr4:97419923-99923880)x3	EIF4E, METAP1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 441914	GRCh37/hg19 4q23(chr4:99288284-99846320)x3	EIF4E, RAP1GDS1 +1 more	Copy number gain	See cases	GLikely benign
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic

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Items: 29