ClinVar for Gene (Select 4675) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370381	GRCh38/hg38 Xq21.32(chrX:93234473-93671220)x3	LOC126863289, NAP1L3	Copy number gain	Intellectual disability	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3298426	NM_004538.6(NAP1L3):c.104G>C (p.Ser35Thr)	NAP1L3 (S35T)	Single nucleotide variant (missense variant)	not specified	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 3174963	NM_004538.6(NAP1L3):c.824C>A (p.Ala275Asp)	NAP1L3 (A275D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174952	NM_004538.6(NAP1L3):c.472A>G (p.Thr158Ala)	NAP1L3 (T158A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174950	NM_004538.6(NAP1L3):c.368C>A (p.Thr123Asn)	NAP1L3 (T123N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174932	NM_004538.6(NAP1L3):c.1309G>A (p.Ala437Thr)	NAP1L3 (A437T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174930	NM_004538.6(NAP1L3):c.1303C>T (p.Pro435Ser)	NAP1L3 (P435S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174924	NM_004538.6(NAP1L3):c.1063A>T (p.Ser355Cys)	NAP1L3 (S355C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067425	NM_004538.6(NAP1L3):c.160AGC[1] (p.Ser55_Ser56del)	NAP1L3	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A4, ERCC6L +488 more	Copy number gain	not provided	GPathogenic
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2685111	GRCh37/hg19 Xq21.32-21.33(chrX:92325423-94161334)x0	FAM133A, NAP1L3	Copy number loss	not provided	GUncertain significance
Select item 2684999	GRCh37/hg19 Xq21.31-21.32(chrX:91590732-92949806)x3	FAM133A, NAP1L3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2661017	NM_004538.6(NAP1L3):c.1407G>A (p.Gly469=)	NAP1L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615571	NM_004538.6(NAP1L3):c.1370G>C (p.Arg457Pro)	NAP1L3 (R457P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613232	NM_004538.6(NAP1L3):c.697G>A (p.Glu233Lys)	NAP1L3 (E233K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568552	NM_004538.6(NAP1L3):c.994T>C (p.Tyr332His)	NAP1L3 (Y332H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559184	NM_004538.6(NAP1L3):c.1348A>G (p.Met450Val)	NAP1L3 (M450V)	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 2496342	NM_004538.6(NAP1L3):c.1378G>T (p.Ala460Ser)	NAP1L3 (A460S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474584	NM_004538.6(NAP1L3):c.1416A>T (p.Leu472Phe)	NAP1L3 (L472F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368714	NM_004538.6(NAP1L3):c.503A>T (p.Asp168Val)	NAP1L3 (D168V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337341	NM_004538.6(NAP1L3):c.527A>G (p.Glu176Gly)	NAP1L3 (E176G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333387	NM_004538.6(NAP1L3):c.1026T>A (p.Asp342Glu)	NAP1L3 (D342E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326497	NM_004538.6(NAP1L3):c.830T>C (p.Val277Ala)	NAP1L3 (V277A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299775	NM_004538.6(NAP1L3):c.52G>T (p.Ala18Ser)	NAP1L3 (A18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287080	NM_004538.6(NAP1L3):c.1517A>G (p.Lys506Arg)	NAP1L3 (K506R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281560	NM_004538.6(NAP1L3):c.294T>A (p.Asp98Glu)	NAP1L3 (D98E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273763	NM_004538.6(NAP1L3):c.1104C>A (p.Phe368Leu)	NAP1L3 (F368L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240830	NM_004538.6(NAP1L3):c.184A>G (p.Ser62Gly)	NAP1L3 (S62G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237581	NM_004538.6(NAP1L3):c.287T>G (p.Phe96Cys)	NAP1L3 (F96C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218679	NM_004538.6(NAP1L3):c.1022C>T (p.Ser341Leu)	NAP1L3 (S341L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809365	GRCh37/hg19 Xq21.32(chrX:92667113-93429578)x2	FAM133A, NAP1L3	Copy number gain	not provided	GUncertain significance
Select item 1808201	GRCh37/hg19 Xq21.31-21.33(chrX:87082472-95826084)x3	CPXCR1, FAM133A +4 more	Copy number gain	not provided	GUncertain significance
Select item 1710513	GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	CAPN6, CENPI +176 more	Copy number gain	not provided	GPathogenic
Select item 1708202	GRCh37/hg19 Xq21.31-22.1(chrX:90868186-99828437)x1	DIAPH2, FAM133A +4 more	Copy number loss	See cases	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 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 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 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	ABCB7, ABCD1 +501 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 1526828	GRCh37/hg19 Xq21.32-22.1(chrX:92879337-100099708)	CSTF2, DIAPH2 +9 more	Copy number loss	not specified	GPathogenic
Select item 1526827	GRCh37/hg19 Xq21.32(chrX:92453752-92979462)	FAM133A, NAP1L3	Copy number gain	not specified	GUncertain significance
Select item 1526826	GRCh37/hg19 Xq21.32(chrX:92421530-93081307)	NAP1L3, FAM133A	Copy number gain	not specified	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 1330214	Single allele	DIAPH2, FAM133A +6 more	Deletion	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 1209858	GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1	BEX3, BEX4 +110 more	Copy number loss	Xq21.32q23 deletion	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 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	CPXCR1, GABRE +509 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ARMCX4, CXorf51B +513 more	Copy number gain	See cases	GPathogenic
Select item 979829	GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1	ACSL4, ACTRT1 +201 more	Copy number loss	not provided	GPathogenic
Select item 816368	GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	ABCD1, ACSL4 +398 more	Copy number loss	not provided	GPathogenic
Select item 816364	GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	not provided	GPathogenic
Select item 791488	NM_004538.6(NAP1L3):c.169_189del (p.Gly57_Ser63del)	NAP1L3	Deletion (inframe_deletion)	not provided	GBenign
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 687900	GRCh37/hg19 Xq21.32(chrX:92457417-92981796)x2	FAM133A, NAP1L3	Copy number gain	not provided	GUncertain significance
Select item 687612	GRCh37/hg19 Xq21.32(chrX:92457417-92981796)x3	FAM133A, NAP1L3	Copy number gain	not provided	GUncertain significance
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	AWAT1, AWAT2 +524 more	Copy number loss	not provided	GUncertain significance
Select item 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AWAT2, BCAP31 +502 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 684964	GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	AIFM1, CXorf51A +389 more	Copy number loss	not provided	GPathogenic
Select item 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 564868	GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1	ABCD1, ACSL4 +390 more	Copy number loss	not provided	GPathogenic
Select item 564867	GRCh37/hg19 Xq21.31-21.33(chrX:91023672-97733935)x1	RPA4, NAP1L3 +3 more	Copy number loss	not provided	GUncertain significance
Select item 564866	GRCh37/hg19 Xq21.31-21.33(chrX:86794810-96275443)x1	NAP1L3, DIAPH2 +7 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 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 443106	GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1	ACSL4, ALG13 +115 more	Copy number loss	See cases	GPathogenic
Select item 443017	GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	NAA10, NALF2 +509 more	Copy number gain	See cases	GPathogenic
Select item 442945	GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1	ABCD1, ACSL4 +410 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 442646	GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	OR13H1, OTUD6A +505 more	Copy number gain	See cases	GPathogenic
Select item 442531	GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	ABCB7, ABCD1 +523 more	Copy number gain	See cases	GPathogenic
Select item 442422	GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1	ATP11C, ATP1B4 +393 more	Copy number loss	See cases	GPathogenic
Select item 442321	GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	YIPF6, ZBTB33 +505 more	Copy number gain	See cases	GPathogenic
Select item 442001	GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1	ABCD1, ACSL4 +406 more	Copy number loss	See cases	GPathogenic
Select item 441843	GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286)	PLP1, PLS3 +158 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 394066	GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4	TCEAL8, TCEAL9 +299 more	Copy number gain	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 254022	GRCh37/hg19 Xq21.31-21.32(chrX:91125433-93074880)x0	NAP1L3, PCDH11X +1 more	Copy number loss	See cases	GUncertain significance
Select item 253871	GRCh37/hg19 Xq21.31-21.33(chrX:91038450-96024832)x0	DIAPH2, FAM133A +2 more	Copy number loss	See cases	GUncertain significance
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 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic

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