ClinVar for Gene (Select 94121) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3324109	NM_001370165.1(SYTL4):c.205A>G (p.Ser69Gly)	SYTL4 (S69G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324108	NM_001370165.1(SYTL4):c.1477C>T (p.Pro493Ser)	SYTL4 (P493S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324107	NM_001370165.1(SYTL4):c.579T>A (p.Ser193Arg)	SYTL4 (S193R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324106	NM_001370165.1(SYTL4):c.133G>A (p.Glu45Lys)	SYTL4 (E45K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324105	NM_001370165.1(SYTL4):c.1715A>G (p.Lys572Arg)	SYTL4 (K572R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324104	NM_001370165.1(SYTL4):c.1693C>T (p.Arg565Cys)	SYTL4 (R565C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246518	NC_000023.10:g.(?_99551275)_(100515610_?)dup	ARL13A, CENPI +11 more	Duplication	not provided	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 3173117	NM_001370165.1(SYTL4):c.889G>A (p.Val297Ile)	SYTL4 (V297I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173116	NM_001370165.1(SYTL4):c.266G>A (p.Arg89Gln)	SYTL4 (R89Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2685000	GRCh37/hg19 Xq21.33-22.3(chrX:96349060-106950847)x3	ARL13A, ARMCX1 +80 more	Copy number gain	not provided	GPathogenic
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2661040	NM_001370165.1(SYTL4):c.436+4C>G	SYTL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2661039	NM_001370165.1(SYTL4):c.1288-4A>G	SYTL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2661038	NM_001370165.1(SYTL4):c.1570G>A (p.Glu524Lys)	SYTL4 (E524K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661037	NM_001370165.1(SYTL4):c.1965A>G (p.Glu655=)	SYTL4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2610874	NM_001370165.1(SYTL4):c.151G>A (p.Ala51Thr)	SYTL4 (A51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598127	NM_001370165.1(SYTL4):c.1466C>T (p.Pro489Leu)	SYTL4 (P489L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2569225	NM_001370165.1(SYTL4):c.1615A>T (p.Thr539Ser)	SYTL4 (T539S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558638	NM_001370165.1(SYTL4):c.694G>T (p.Ala232Ser)	SYTL4 (A232S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558056	NM_001370165.1(SYTL4):c.1459G>A (p.Glu487Lys)	SYTL4 (E487K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521596	NM_001370165.1(SYTL4):c.1616C>T (p.Thr539Met)	SYTL4 (T539M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518858	NM_001370165.1(SYTL4):c.85C>T (p.Arg29Trp)	SYTL4 (R29W)	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 2485061	NM_001370165.1(SYTL4):c.1219C>T (p.Arg407Cys)	SYTL4 (R407C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2479752	NM_001370165.1(SYTL4):c.475C>G (p.Gln159Glu)	SYTL4 (Q159E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466747	NM_001370165.1(SYTL4):c.215G>A (p.Arg72His)	SYTL4 (R72H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464671	NM_001370165.1(SYTL4):c.1976A>C (p.Gln659Pro)	SYTL4 (Q659P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425021	NC_000023.10:g.(?_99551275)_(101097764_?)del	RPL36A, RPL36A-HNRNPH2 +25 more	Deletion	not provided	GPathogenic
Select item 2423943	NC_000023.10:g.(?_99551275)_(100099087_?)del	CSTF2, NOX1 +5 more	Deletion	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 2422282	NC_000023.10:g.(?_99551275)_(101097764_?)dup	ARL13A, ARMCX1 +25 more	Duplication	Developmental and epileptic encephalopathy, 9 +1 more	GUncertain significance
Select item 2394046	NM_001370165.1(SYTL4):c.836G>A (p.Arg279His)	SYTL4 (R279H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391038	NM_001370165.1(SYTL4):c.596G>A (p.Ser199Asn)	SYTL4 (S199N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263857	NM_001370165.1(SYTL4):c.997T>C (p.Ser333Pro)	SYTL4 (S333P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221254	NM_001370165.1(SYTL4):c.430C>T (p.Pro144Ser)	SYTL4 (P144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219117	NM_001370165.1(SYTL4):c.1351C>T (p.Arg451Cys)	SYTL4 (R451C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217022	NM_001370165.1(SYTL4):c.1999C>A (p.Gln667Lys)	SYTL4 (Q667K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808673	GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1	ACSL4, AGTR2 +133 more	Copy number loss	not provided	GPathogenic
Select item 1710513	GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	CAPN6, CENPI +176 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 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 1526831	GRCh37/hg19 Xq22.1(chrX:99842716-100570618)	ARL13A, CENPI +11 more	Copy number gain	not specified	GUncertain significance
Select item 1526828	GRCh37/hg19 Xq21.32-22.1(chrX:92879337-100099708)	CSTF2, DIAPH2 +9 more	Copy number loss	not specified	GPathogenic
Select item 1375651	NC_000023.10:g.(?_99917153)_(100662891_?)dup	SYTL4, TAF7L +14 more	Duplication	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	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 1340489	GRCh37/hg19 Xq22.1(chrX:99589130-102138180)x3	NXF2B, SYTL4 +38 more	Copy number gain	not provided	GUncertain significance
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 980311	GRCh37/hg19 Xq22.1(chrX:99581496-100047228)x2	SRPX2, SYTL4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 980310	GRCh37/hg19 Xq22.1(chrX:99858343-100348232)x3	TRMT2B, SYTL4 +7 more	Copy number gain	not provided	GUncertain significance
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	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 816373	GRCh37/hg19 Xq22.1(chrX:99910467-100704219)x2	ARL13A, ARMCX4 +16 more	Copy number gain	not provided	GUncertain significance
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 689047	GRCh37/hg19 Xq22.1(chrX:99943376-100476729)x2	ARL13A, CENPI +7 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 688035	GRCh37/hg19 Xq22.1(chrX:98987165-100421459)x2	ARL13A, CENPI +10 more	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 685705	GRCh37/hg19 Xq22.1(chrX:99858358-100772721)x2	ARL13A, ARMCX4 +17 more	Copy number gain	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 685130	GRCh37/hg19 Xq22.1(chrX:99430457-100047314)x1	PCDH19, SRPX2 +3 more	Copy number loss	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 564874	GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1	ABCD1, ACSL4 +385 more	Copy number loss	not provided	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 545551	NC_000023.10:g.36649710_136649711del100000002insG	AMER1, AMMECR1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 493606	GRCh37/hg19 Xq22.1(chrX:99742359-100759773)x3	CENPI, CSTF2 +18 more	Copy number gain	not provided	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 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	PNMA5, PNMA6A +695 more	Copy number loss	See cases	GPathogenic
Select item 443410	GRCh37/hg19 Xq21.33-22.1(chrX:97026936-99973825)x3	PCDH19, SRPX2 +3 more	Copy number gain	See cases	GLikely benign
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 442821	GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3	ACSL4, ACTRT1 +303 more	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 442712	GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1	ABCD1, ACSL4 +384 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 395717	GRCh37/hg19 Xq22.1-22.2(chrX:99611312-103506684)	ARMCX2, BEX1 +63 more	Copy number gain	See cases	GPathogenic

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