ClinVar for Gene (Select 7102) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
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 3069031	NC_000023.10:g.(38420881_38525374)_(38548173_?)dup	TSPAN7	Duplication	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
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 3062483	GRCh37/hg19 Xp21.1-11.4(chrX:33027159-39840641)	CFAP47, CYBB +17 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
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 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685701	GRCh37/hg19 Xp22.11-11.3(chrX:24633854-44236178)x1	XK, ARX +51 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	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 2660299	NM_004615.4(TSPAN7):c.-1T>C	TSPAN7	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
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 2553869	NM_004615.4(TSPAN7):c.245G>A (p.Arg82His)	TSPAN7 (R82H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2425185	NC_000023.10:g.(?_38525355)_(38546921_?)dup	TSPAN7	Duplication	not provided	GUncertain significance
Select item 2273277	NM_004615.4(TSPAN7):c.408G>C (p.Glu136Asp)	TSPAN7 (E136D)	Single nucleotide variant (missense variant)	TSPAN7-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1809378	GRCh37/hg19 Xp11.4(chrX:37722819-38713056)x3	H2AP, MID1IP1 +5 more	Copy number gain	not provided	GUncertain significance
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 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
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 1679100	GRCh37/hg19 Xp11.4(chrX:38486922-38615759)x2	TSPAN7	Copy number gain	Non-syndromic X-linked intellectual disability	Gnot provided
Select item 1676155	NM_004615.4(TSPAN7):c.157G>T (p.Glu53Ter)	TSPAN7 (E53*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1340757	GRCh37/hg19 Xp11.4(chrX:38486799-38634614)x2	TSPAN7	Copy number gain	not provided	GUncertain significance
Select item 1340598	GRCh37/hg19 Xp11.4(chrX:38117294-38466641)x3	OTC, RPGR +1 more	Copy number gain	not provided	GUncertain significance
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 1327408	GRCh37/hg19 Xp11.4(chrX:38480090-38634614)x3	TSPAN7	Copy number gain	Intellectual disability, X-linked 58	Gnot provided
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 1310755	NM_004615.4(TSPAN7):c.226G>T (p.Gly76Ter)	TSPAN7 (G76*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1164055	NM_004615.4(TSPAN7):c.289del (p.Leu97fs)	TSPAN7 (L97fs)	Deletion (frameshift variant)	Intellectual disability, X-linked 58	GPathogenic
Select item 992647	GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	ACE2, ACOT9 +309 more	Copy number loss	not provided	GPathogenic
Select item 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 979791	GRCh37/hg19 Xp21.1-11.4(chrX:37487291-38568933)x3	OTC, RPGR +8 more	Copy number gain	not provided	GUncertain significance
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 975141	Single allele	CFAP47, CXorf22 +14 more	Deletion	Retinitis pigmentosa 3	GPathogenic
Select item 833473	NC_000023.10:g.(?_30326313)_(41000684_?)del	ATP6AP2, BCOR +30 more	Deletion	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 833469	NC_000023.10:g.(?_38505491)_(38546921_?)dup	TSPAN7	Duplication	not provided	GUncertain significance
Select item 816337	GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1	ATP6AP2, BCOR +32 more	Copy number loss	not provided	GPathogenic
Select item 816270	GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	ACE2, ACOT9 +305 more	Copy number loss	not provided	GPathogenic
Select item 810569	NM_004615.4(TSPAN7):c.598-8C>T	TSPAN7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 731385	NM_004615.4(TSPAN7):c.516C>A (p.Pro172=)	TSPAN7	Single nucleotide variant (synonymous variant)	TSPAN7-related disorder +2 more	GBenign
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +268 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
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 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
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 685565	GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	RBBP7, RBM10 +316 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	BEX1, BEX2 +818 more	Copy number gain	not provided	GPathogenic
Select item 684965	GRCh37/hg19 Xp11.4(chrX:38056276-40565244)x3	ATP6AP2, BCOR +8 more	Copy number gain	not provided	GPathogenic
Select item 638115	GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	ACE2, ACOT9 +257 more	Copy number loss	See cases	GPathogenic
Select item 635934	Single allele	SUPT20HL2, SYAP1 +177 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	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 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	RPS6KA6, UPRT +413 more	Copy number gain	not provided	GPathogenic
Select item 564696	GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1	ACE2, ACOT9 +170 more	Copy number loss	not provided	GPathogenic
Select item 564695	GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1	ACE2, ACOT9 +154 more	Copy number loss	not provided	GPathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	AMER1, AMMECR1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 493596	GRCh37/hg19 Xp11.4(chrX:38491539-38628756)x2	TSPAN7	Copy number gain	not provided	GLikely benign
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
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 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
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 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	EIF1AX, EIF2S3 +539 more	Copy number loss	See cases	GPathogenic
Select item 443828	GRCh37/hg19 Xp11.4(chrX:38480090-38639494)x3	TSPAN7	Copy number gain	See cases	GLikely benign
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	PNMA5, PNMA6A +695 more	Copy number loss	See cases	GPathogenic
Select item 443322	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	ACE2, ACOT9 +314 more	Copy number loss	See cases	GPathogenic
Select item 443208	GRCh37/hg19 Xp21.1-11.4(chrX:37584811-38467647)x2	SRPX, CYBB +7 more	Copy number gain	See cases	GUncertain significance
Select item 443041	GRCh37/hg19 Xp11.4(chrX:38486799-38634705)x3	TSPAN7	Copy number gain	See cases	GUncertain significance
Select item 443028	GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	SYN1, SYP +294 more	Copy number loss	See cases	GPathogenic
Select item 442832	GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	ABCB7, AKAP4 +300 more	Copy number loss	See cases	GPathogenic
Select item 442831	GRCh37/hg19 Xp11.4(chrX:38480090-38628557)x2	TSPAN7	Copy number gain	See cases	GUncertain significance
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	AP1S2, APEX2 +731 more	Copy number loss	See cases	GPathogenic
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

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