TSPAN7[gene] and "single gene"[properties] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95155	NM_004615.3(TSPAN7):c.-33_-31CCG[6]	TSPAN7	Microsatellite	not specified +1 more	GBenign
Select item 2660299	NM_004615.4(TSPAN7):c.-1T>C	TSPAN7	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 437072	NM_004615.4(TSPAN7):c.78C>T (p.Phe26=)	TSPAN7	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1676155	NM_004615.4(TSPAN7):c.157G>T (p.Glu53Ter)	TSPAN7 (E53*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 437073	NM_004615.4(TSPAN7):c.190G>A (p.Gly64Arg)	TSPAN7 (G64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1310755	NM_004615.4(TSPAN7):c.226G>T (p.Gly76Ter)	TSPAN7 (G76*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 130644	NM_004615.4(TSPAN7):c.237T>C (p.Ala79=)	TSPAN7	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 58 +2 more	GBenign/Likely benign
Select item 2553869	NM_004615.4(TSPAN7):c.245G>A (p.Arg82His)	TSPAN7 (R82H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1683623	NM_004615.4(TSPAN7):c.248G>C (p.Gly83Ala)	TSPAN7 (G83A)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 58	GUncertain significance
Select item 212456	NM_004615.4(TSPAN7):c.270+7A>G	TSPAN7	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3345929	NM_004615.4(TSPAN7):c.272A>G (p.Tyr91Cys)	TSPAN7 (Y91C)	Single nucleotide variant (missense variant)	TSPAN7-related disorder	GUncertain significance
Select item 437074	NM_004615.4(TSPAN7):c.274G>T (p.Ala92Ser)	TSPAN7 (A92S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1164055	NM_004615.4(TSPAN7):c.289del (p.Leu97fs)	TSPAN7 (L97fs)	Deletion (frameshift variant)	Intellectual disability, X-linked 58	GPathogenic
Select item 624399	NM_004615.4(TSPAN7):c.310G>A (p.Val104Ile)	TSPAN7 (V104I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3042930	NM_004615.4(TSPAN7):c.378C>T (p.Asp126=)	TSPAN7	Single nucleotide variant (synonymous variant)	TSPAN7-related disorder	GLikely benign
Select item 2273277	NM_004615.4(TSPAN7):c.408G>C (p.Glu136Asp)	TSPAN7 (E136D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183850	NM_004615.4(TSPAN7):c.415C>T (p.Arg139Trp)	TSPAN7 (R139W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 437075	NM_004615.4(TSPAN7):c.416G>A (p.Arg139Gln)	TSPAN7 (R139Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1312134	NM_004615.4(TSPAN7):c.440G>A (p.Ser147Asn)	TSPAN7 (S147N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 130645	NM_004615.4(TSPAN7):c.441C>T (p.Ser147=)	TSPAN7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1328719	NM_004615.4(TSPAN7):c.462G>C (p.Gln154His)	TSPAN7 (Q154H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637721	NM_004615.4(TSPAN7):c.473A>G (p.Asn158Ser)	TSPAN7 (N158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 975629	NM_004615.4(TSPAN7):c.516del (p.Ser173fs)	TSPAN7 (S173fs)	Deletion (frameshift variant)	Intellectual disability	GUncertain significance
Select item 11630	NM_004615.4(TSPAN7):c.515C>A (p.Pro172His)	TSPAN7 (P172H)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder +2 more	GConflicting classifications of pathogenicity
Select item 731385	NM_004615.4(TSPAN7):c.516C>A (p.Pro172=)	TSPAN7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1746872	NM_004615.4(TSPAN7):c.532G>A (p.Glu178Lys)	TSPAN7 (E178K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 11631	NM_004615.4(TSPAN7):c.572_573del (p.Val191fs)	TSPAN7 (V191fs)	Microsatellite (frameshift variant)	Intellectual disability, X-linked 58	GPathogenic
Select item 810569	NM_004615.4(TSPAN7):c.598-8C>T	TSPAN7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 11629	NM_004615.4(TSPAN7):c.652G>T (p.Gly218Ter)	TSPAN7 (G218*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 58	GPathogenic
Select item 2660300	NM_004615.4(TSPAN7):c.669C>T (p.Ile223=)	TSPAN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1308786	NM_004615.4(TSPAN7):c.706T>C (p.Cys236Arg)	TSPAN7 (C236R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3069031	NC_000023.10:g.(38420881_38525374)_(38548173_?)dup	TSPAN7	Duplication	not specified	GUncertain significance
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 2425185	NC_000023.10:g.(?_38525355)_(38546921_?)dup	TSPAN7	Duplication	not provided	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 833469	NC_000023.10:g.(?_38505491)_(38546921_?)dup	TSPAN7	Duplication	not provided	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: 69