ClinVar for Gene (Select 5475) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309107	NM_001377996.1(PPEF1):c.1876A>G (p.Ile626Val)	PPEF1 (I534V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309106	NM_001377996.1(PPEF1):c.1643G>A (p.Arg548His)	PPEF1 (R483H +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3309105	NM_001377996.1(PPEF1):c.410A>G (p.His137Arg)	PPEF1 (H72R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309104	NM_001377996.1(PPEF1):c.1168A>C (p.Ile390Leu)	PPEF1 (I298L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245767	NC_000023.10:g.(?_14027032)_(19854400_?)del	ASB9, BEND2 +35 more	Deletion	not provided	GPathogenic
Select item 3243867	NC_000023.10:g.(?_17393881)_(20284750_?)del	ADGRG2, BCLAF3 +15 more	Deletion	Coffin-Lowry syndrome +5 more	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3217064	NM_001377996.1(PPEF1):c.473A>G (p.His158Arg)	PPEF1 (H93R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217063	NM_001377996.1(PPEF1):c.222T>A (p.His74Gln)	PPEF1 (H74Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217062	NM_001377996.1(PPEF1):c.1922A>G (p.Tyr641Cys)	PPEF1 (Y549C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062524	GRCh37/hg19 Xp22.13(chrX:18660647-18876579)	CDKL5, PPEF1 +1 more	Copy number gain	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 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 2685737	GRCh37/hg19 Xp22.13(chrX:18455994-18880442)x2	CDKL5, PPEF1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685736	GRCh37/hg19 Xp22.13(chrX:18207863-19188070)x2	ADGRG2, BEND2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	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 2684971	GRCh37/hg19 Xp22.13-22.11(chrX:18411391-22528403)x3	ADGRG2, BCLAF3 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2660109	NM_001377996.1(PPEF1):c.1335T>C (p.Thr445=)	PPEF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660108	NM_001377996.1(PPEF1):c.297C>T (p.Asp99=)	PPEF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2528005	NM_001377996.1(PPEF1):c.499G>T (p.Val167Leu)	PPEF1 (V167L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2426989	NC_000023.10:g.(?_18525053)_(20284750_?)del	ADGRG2, BCLAF3 +10 more	Deletion	not provided	GUncertain significance
Select item 2422912	NC_000023.10:g.(?_18664107)_(19032212_?)dup	ADGRG2, CDKL5 +3 more	Duplication	not provided	GUncertain significance
Select item 2422906	NC_000023.10:g.(?_18593454)_(19086952_?)dup	ADGRG2, CDKL5 +3 more	Duplication	not provided	GUncertain significance
Select item 2289080	NM_001377996.1(PPEF1):c.1388G>A (p.Arg463His)	PPEF1 (R371H +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2207246	NM_001377996.1(PPEF1):c.584C>T (p.Pro195Leu)	PPEF1 (P130L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205217	NM_001377996.1(PPEF1):c.938C>T (p.Thr313Met)	PPEF1 (T313M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809069	GRCh37/hg19 Xp22.13-22.12(chrX:18584687-19322232)x2	ADGRG2, CDKL5 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1808948	GRCh37/hg19 Xp22.13(chrX:17751088-18863732)x3	SCML1, BEND2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1808439	GRCh37/hg19 Xp22.13-22.12(chrX:18714973-19497755)x3	ADGRG2, MAP3K15 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807973	GRCh37/hg19 Xp22.13-22.12(chrX:18583461-19322232)x2	ADGRG2, CDKL5 +3 more	Copy number gain	not provided	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 1526767	GRCh37/hg19 Xp22.13-22.12(chrX:18645361-19678763)	ADGRG2, CDKL5 +6 more	Copy number loss	not specified	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 1041824	NC_000023.10:g.(?_17393881)_(20284750_?)dup	ADGRG2, BCLAF3 +15 more	Duplication	Angelman syndrome-like +1 more	GUncertain significance
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 980283	GRCh37/hg19 Xp22.13-22.12(chrX:18582617-19417295)x3	PHKA2, PPEF1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 833472	NC_000023.10:g.(?_18660114)_(19377781_?)del	ADGRG2, CDKL5 +4 more	Deletion	not provided	GPathogenic
Select item 816622	GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1	FANCB, ARSD-AS1 +125 more	Copy number loss	not provided	GPathogenic
Select item 816314	GRCh37/hg19 Xp22.2-22.12(chrX:16194993-20640014)x2	MAP3K15, SCML1 +21 more	Copy number gain	not provided	GPathogenic
Select item 816281	GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2	FAM9B, AMELX +82 more	Copy number gain	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 816269	GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1	TCEANC, CLTRN +90 more	Copy number loss	not provided	GPathogenic
Select item 714921	NM_001377996.1(PPEF1):c.567C>T (p.Leu189=)	PPEF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713255	NM_001377996.1(PPEF1):c.900A>G (p.Val300=)	PPEF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689077	GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2	ACE2, ADGRG2 +46 more	Copy number gain	not provided	GPathogenic
Select item 689075	GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2	ACE2, ADGRG2 +46 more	Copy number gain	not provided	GPathogenic
Select item 688883	GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3	ACE2, ACOT9 +94 more	Copy number gain	not provided	GPathogenic
Select item 688508	GRCh37/hg19 Xp22.13(chrX:17557444-19260546)x2	ADGRG2, BEND2 +8 more	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 685809	GRCh37/hg19 Xp22.2-22.11(chrX:15330714-21915234)x2	ACE2, ADGRG2 +39 more	Copy number gain	not provided	GPathogenic
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 684963	GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1	ACE2, ACOT9 +139 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 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 625794	GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392)	ACE2, ACOT9 +94 more	Copy number gain	not provided	GPathogenic
Select item 564796	GRCh37/hg19 Xp22.13(chrX:18456527-19119902)x2	ADGRG2, CDKL5 +3 more	Copy number gain	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 564698	GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3	ANOS1, FANCB +82 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 564694	GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1	PRDX4, ADGRG2 +94 more	Copy number loss	not provided	GPathogenic
Select item 545379	Single allele	ACE2, ACE2-DT +399 more	Duplication	Autism	GLikely pathogenic
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 443634	GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1	ACE2, ACOT9 +127 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 442957	GRCh37/hg19 Xp22.13(chrX:18590650-18727244)x2	CDKL5, PPEF1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 442812	GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3	ACE2, ACOT9 +105 more	Copy number gain	See cases	GPathogenic
Select item 442790	GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1	ACE2, ACOT9 +131 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 442354	GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	ABCB7, ACE2 +390 more	Copy number loss	See cases	GPathogenic
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 442024	GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2	ACE2, ACOT9 +65 more	Copy number gain	See cases	GLikely pathogenic
Select item 441995	GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1	ACE2, ACOT9 +121 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

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