Related gene-specific medical variations for Gene (Select 7102) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062501	GRCh37/hg19 Xp11.4(chrX:38480090-38634614)	TSPAN7	Copy number gain	not specified	GUncertain significance
Select item 3062500	GRCh37/hg19 Xp11.4(chrX:38480079-38634614)	TSPAN7	Copy number gain	not specified	GUncertain significance
Select item 1679100	GRCh37/hg19 Xp11.4(chrX:38486922-38615759)x2	TSPAN7	Copy number gain	Non-syndromic X-linked intellectual disability	Gnot provided
Select item 1340757	GRCh37/hg19 Xp11.4(chrX:38486799-38634614)x2	TSPAN7	Copy number gain	not provided	GUncertain significance
Select item 1327408	GRCh37/hg19 Xp11.4(chrX:38480090-38634614)x3	TSPAN7	Copy number gain	Intellectual disability, X-linked 58	Gnot provided
Select item 979782	GRCh37/hg19 Xp11.4(chrX:38283785-38540836)x0	TSPAN7	Copy number loss	not provided	GUncertain significance
Select item 975629	NM_004615.4(TSPAN7):c.516del (p.Ser173fs)	TSPAN7 (S173fs)	Deletion (frameshift variant)	Intellectual disability	GUncertain significance
Select item 689257	GRCh37/hg19 Xp11.4(chrX:38486618-38629433)x3	TSPAN7	Copy number gain	not provided	GUncertain significance
Select item 688550	GRCh37/hg19 Xp11.4(chrX:38438500-38619112)x0	TSPAN7	Copy number loss	not provided	GPathogenic
Select item 688444	GRCh37/hg19 Xp11.4(chrX:38486618-38629433)x2	TSPAN7	Copy number gain	not provided	GUncertain significance
Select item 688283	GRCh37/hg19 Xp11.4(chrX:38486618-38629433)x2	TSPAN7	Copy number gain	not provided	GUncertain significance
Select item 687700	GRCh37/hg19 Xp11.4(chrX:38486618-38629433)x3	TSPAN7	Copy number gain	not provided	GUncertain significance
Select item 687022	GRCh37/hg19 Xp11.4(chrX:38486618-38629433)x2	TSPAN7	Copy number gain	not provided	GUncertain significance
Select item 686918	GRCh37/hg19 Xp11.4(chrX:38486618-38629433)x2	TSPAN7	Copy number gain	not provided	GUncertain significance
Select item 686624	GRCh37/hg19 Xp11.4(chrX:38486618-38629433)x3	TSPAN7	Copy number gain	not provided	GUncertain significance
Select item 686516	GRCh37/hg19 Xp11.4(chrX:38476857-38629433)x3	TSPAN7	Copy number gain	not provided	GUncertain significance
Select item 686289	GRCh37/hg19 Xp11.4(chrX:38486618-38629433)x2	TSPAN7	Copy number gain	not provided	GUncertain significance
Select item 685996	GRCh37/hg19 Xp11.4(chrX:38486618-38629433)x2	TSPAN7	Copy number gain	not provided	GUncertain significance
Select item 685958	GRCh37/hg19 Xp11.4(chrX:38486618-38628467)x3	TSPAN7	Copy number gain	not provided	GUncertain significance
Select item 493596	GRCh37/hg19 Xp11.4(chrX:38491539-38628756)x2	TSPAN7	Copy number gain	not provided	GLikely benign
Select item 443994	GRCh37/hg19 Xp11.4(chrX:38480079-38634614)x2	TSPAN7	Copy number gain	See cases	GUncertain significance
Select item 443976	GRCh37/hg19 Xp11.4(chrX:38486799-38628556)x3	TSPAN7	Copy number gain	See cases	GUncertain significance
Select item 443952	GRCh37/hg19 Xp11.4(chrX:38486618-38634614)x2	TSPAN7	Copy number gain	See cases	GUncertain significance
Select item 443951	GRCh37/hg19 Xp11.4(chrX:38486618-38634614)x3	TSPAN7	Copy number gain	See cases	GUncertain significance
Select item 443828	GRCh37/hg19 Xp11.4(chrX:38480090-38639494)x3	TSPAN7	Copy number gain	See cases	GLikely benign
Select item 443041	GRCh37/hg19 Xp11.4(chrX:38486799-38634705)x3	TSPAN7	Copy number gain	See cases	GUncertain significance
Select item 442831	GRCh37/hg19 Xp11.4(chrX:38480090-38628557)x2	TSPAN7	Copy number gain	See cases	GUncertain significance
Select item 442683	GRCh37/hg19 Xp11.4(chrX:38486799-38634614)x2	TSPAN7	Copy number gain	See cases	GUncertain significance
Select item 442682	GRCh37/hg19 Xp11.4(chrX:38486799-38634614)x3	TSPAN7	Copy number gain	See cases	Gconflicting data from submitters
Select item 442599	GRCh37/hg19 Xp11.4(chrX:38480079-38634706)x3	TSPAN7	Copy number gain	See cases	GUncertain significance
Select item 442420	GRCh37/hg19 Xp11.4(chrX:38486799-38634706)x3	TSPAN7	Copy number gain	See cases	GUncertain significance
Select item 442196	GRCh37/hg19 Xp11.4(chrX:38486619-38628557)x3	TSPAN7	Copy number gain	See cases	GLikely benign
Select item 441753	GRCh37/hg19 Xp11.4(chrX:38480090-38634614)x3	TSPAN7	Copy number gain	See cases	GLikely benign
Select item 441625	GRCh37/hg19 Xp11.4(chrX:38486799-38629433)x2	TSPAN7	Copy number gain	See cases	GUncertain significance
Select item 221899	GRCh37/hg19 Xp11.4(chrX:38490844-38624791)x3	TSPAN7	Copy number gain	Premature ovarian failure	GBenign
Select item 202216	GRCh37/hg19 Xp11.4(chrX:38485991-38626762)x3	TSPAN7	Copy number gain	See cases	GUncertain significance

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Items: 36