ClinVar for Gene (Select 6758) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322910	NM_175723.2(SSX5):c.143A>G (p.Tyr48Cys)	SSX5 (Y89C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322909	NM_175723.2(SSX5):c.128C>T (p.Ser43Leu)	SSX5 (S43L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322908	NM_175723.2(SSX5):c.287A>G (p.His96Arg)	SSX5 (H137R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3322907	NM_175723.2(SSX5):c.537G>T (p.Glu179Asp)	SSX5 (E179D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244684	NC_000023.10:g.(?_46466387)_(51241672_?)dup	AKAP4, ARAF +91 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3170578	NM_175723.2(SSX5):c.401A>C (p.Asn134Thr)	SSX5 (N134T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170577	NM_175723.2(SSX5):c.347C>T (p.Pro116Leu)	SSX5 (P157L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170576	NM_175723.2(SSX5):c.40G>T (p.Gly14Cys)	SSX5 (G14C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170574	NM_175723.2(SSX5):c.239A>G (p.Gln80Arg)	SSX5 (Q80R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170573	NM_175723.2(SSX5):c.162G>C (p.Lys54Asn)	SSX5 (K54N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 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 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 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 2685077	GRCh37/hg19 Xp11.23(chrX:48039327-48202397)x0	SSX1, SSX5	Copy number loss	not provided	GUncertain significance
Select item 2684979	GRCh37/hg19 Xp11.3-11.23(chrX:44663115-48237646)x3	ARAF, CDK16 +33 more	Copy number gain	not provided	GUncertain significance
Select item 2660444	NM_175723.2(SSX5):c.75C>T (p.Phe25=)	SSX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660443	NM_175723.2(SSX5):c.281-68A>G	SSX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660442	NM_175723.2(SSX5):c.281-65T>A	SSX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2551913	NM_175723.2(SSX5):c.442T>C (p.Ser148Pro)	SSX5 (S189P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549286	NM_175723.2(SSX5):c.562G>C (p.Glu188Gln)	SSX5 (E229Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533255	NM_175723.2(SSX5):c.69+212C>T	SSX5 (P41S)	Single nucleotide variant (missense variant +1 more)	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 2461895	NM_175723.2(SSX5):c.259G>A (p.Asp87Asn)	SSX5 (D87N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	AKAP4, ARAF +91 more	Deletion	not provided	GPathogenic
Select item 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	GAGE12E, GAGE12F +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2423581	NC_000023.10:g.(?_47001716)_(50659607_?)dup	AKAP4, ARAF +85 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +2 more	GUncertain significance
Select item 2422978	NC_000023.10:g.(?_46618120)_(48549553_?)del	ARAF, CDK16 +35 more	Deletion	not provided	GPathogenic
Select item 2397341	NM_175723.2(SSX5):c.419G>A (p.Arg140His)	SSX5 (R140H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392976	NM_175723.2(SSX5):c.69+213C>G	SSX5 (P41R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359247	NM_175723.2(SSX5):c.506G>A (p.Arg169His)	SSX5 (R210H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325413	NM_175723.2(SSX5):c.268C>A (p.Arg90Ser)	SSX5 (R90S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314542	NM_175723.2(SSX5):c.311T>C (p.Leu104Pro)	SSX5 (L104P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312697	NM_175723.2(SSX5):c.478G>A (p.Gly160Arg)	SSX5 (G160R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257719	NM_175723.2(SSX5):c.224G>A (p.Arg75Gln)	SSX5 (R116Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2228049	NM_175723.2(SSX5):c.70-196C>A	SSX5 (A50D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215947	NM_175723.2(SSX5):c.205C>T (p.Pro69Ser)	SSX5 (P110S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207502	NM_175723.2(SSX5):c.316G>A (p.Gly106Arg)	SSX5 (G147R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2207501	NM_175723.2(SSX5):c.315G>T (p.Gln105His)	SSX5 (Q105H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808658	GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	AKAP4, ARAF +126 more	Copy number gain	not provided	GPathogenic
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 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 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1180517	GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2	FAM156B, FOXP3 +109 more	Copy number gain	not provided	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 816347	GRCh37/hg19 Xp11.23(chrX:47903121-48228350)x2	SSX1, SSX5 +3 more	Copy number gain	not provided	GUncertain significance
Select item 816346	GRCh37/hg19 Xp11.23(chrX:47686106-48283388)x3	SSX1, SPACA5 +8 more	Copy number gain	not provided	GUncertain significance
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 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +268 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 686352	GRCh37/hg19 Xp11.23(chrX:47633270-48271336)x2	SPACA5, SPACA5B +8 more	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 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ABCB7, AKAP4 +281 more	Copy number loss	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 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 625640	GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622)	ARAF, CCDC120 +64 more	Copy number gain	not provided	GPathogenic
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 545551	NC_000023.10:g.36649710_136649711del100000002insG	AMER1, AMMECR1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	EIF1AX, EIF2S3 +539 more	Copy number loss	See cases	GPathogenic
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 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 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	AP1S2, APEX2 +731 more	Copy number loss	See cases	GPathogenic
Select item 442436	GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2	ARAF, CDK16 +49 more	Copy number gain	See cases	GLikely pathogenic
Select item 442354	GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	ABCB7, ACE2 +390 more	Copy number loss	See cases	GPathogenic
Select item 442202	GRCh37/hg19 Xp11.23(chrX:47768271-48053241)x3	SPACA5, SPACA5B +4 more	Copy number gain	See cases	GUncertain significance
Select item 442162	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	AP1S2, APEX2 +300 more	Copy number loss	See cases	GPathogenic
Select item 442067	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	ARSF, XAGE2 +312 more	Copy number loss	See cases	GPathogenic
Select item 441968	GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	AP1S2, APEX2 +312 more	Copy number loss	See cases	GPathogenic
Select item 441856	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	WDR45, WNK3 +313 more	Copy number loss	See cases	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	BEX4, BEX5 +566 more	Copy number gain	not provided	GUncertain significance
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	TMLHE, TMSB15A +819 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	BEX1, BEX2 +819 more	Copy number gain	See cases	GPathogenic
Select item 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 394672	GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	ABCB7, ADGRG2 +818 more	Copy number loss	See cases	GPathogenic
Select item 394013	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic

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