ClinVar for Gene (Select 56062) - 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	MIR1468, MIR1587 +2598 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3115751	NM_019117.5(KLHL4):c.1810T>A (p.Ser604Thr)	KLHL4 (S604T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115750	NM_019117.5(KLHL4):c.1709A>G (p.Asn570Ser)	KLHL4 (N570S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115749	NM_019117.5(KLHL4):c.1501A>G (p.Lys501Glu)	KLHL4 (K501E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115748	NM_019117.5(KLHL4):c.1222C>A (p.Leu408Ile)	KLHL4 (L408I)	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	GPC4, TAF9B +488 more	Copy number gain	not provided	GPathogenic
Select item 2685713	GRCh37/hg19 Xq21.31(chrX:86642342-86968629)x1	KLHL4	Copy number loss	not provided	GUncertain significance
Select item 2685712	GRCh37/hg19 Xq21.2-21.31(chrX:84765926-87074707)x1	CHM, DACH2 +1 more	Copy number loss	not provided	GPathogenic
Select item 2685711	GRCh37/hg19 Xq13.2-21.31(chrX:73620711-90395211)x1	ABCB7, APOOL +39 more	Copy number loss	not provided	GPathogenic
Select item 2685099	GRCh37/hg19 Xq21.31(chrX:86765633-86863433)x0	KLHL4	Copy number loss	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 2661012	NM_019117.5(KLHL4):c.1671A>T (p.Ser557=)	KLHL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661011	NM_019117.5(KLHL4):c.1341A>G (p.Glu447=)	KLHL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2549625	NM_019117.5(KLHL4):c.343T>G (p.Leu115Val)	KLHL4 (L115V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524196	NM_019117.5(KLHL4):c.1604G>C (p.Ser535Thr)	KLHL4 (S535T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2470338	NM_019117.5(KLHL4):c.662A>T (p.Glu221Val)	KLHL4 (E221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386480	NM_019117.5(KLHL4):c.1723A>G (p.Ile575Val)	KLHL4 (I575V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377161	NM_019117.5(KLHL4):c.122A>G (p.Tyr41Cys)	KLHL4 (Y41C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375325	NM_019117.5(KLHL4):c.211C>A (p.His71Asn)	KLHL4 (H71N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338290	NM_019117.5(KLHL4):c.1532C>T (p.Thr511Ile)	KLHL4 (T511I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318809	NM_019117.5(KLHL4):c.1540C>T (p.His514Tyr)	KLHL4 (H514Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304548	NM_019117.5(KLHL4):c.305C>G (p.Ala102Gly)	KLHL4 (A102G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303455	NM_019117.5(KLHL4):c.1079G>A (p.Arg360Lys)	KLHL4 (R360K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297934	NM_019117.5(KLHL4):c.335A>T (p.Glu112Val)	KLHL4 (E112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284190	NM_019117.5(KLHL4):c.439T>G (p.Ser147Ala)	KLHL4 (S147A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279876	NM_019117.5(KLHL4):c.367C>G (p.Arg123Gly)	KLHL4 (R123G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279348	NM_019117.5(KLHL4):c.869T>C (p.Phe290Ser)	KLHL4 (F290S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212237	NM_019117.5(KLHL4):c.479A>G (p.His160Arg)	KLHL4 (H160R)	Single nucleotide variant (missense variant)	not specified	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 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 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	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	H2AB3, H2BW1 +502 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1526815	GRCh37/hg19 Xq13.2-21.31(chrX:72095006-88455505)	HMGN5, ITM2A +49 more	Copy number gain	not specified	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	MAMLD1, MAOA +818 more	Copy number loss	not provided	GPathogenic
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	ABCB7, ABCD1 +510 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ABCB7, ABCD1 +514 more	Copy number gain	See cases	GPathogenic
Select item 979832	GRCh37/hg19 Xq21.2-21.31(chrX:86182760-86849469)x3	KLHL4	Copy number gain	not provided	GLikely benign
Select item 979829	GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1	ACSL4, ACTRT1 +201 more	Copy number loss	not provided	GPathogenic
Select item 833505	NC_000023.10:g.(?_82763333)_(86890775_?)del	APOOL, CHM +9 more	Deletion	not provided	GPathogenic
Select item 833482	NC_000023.10:g.(?_83372068)_(86924394_?)del	APOOL, CHM +7 more	Deletion	not provided	GPathogenic
Select item 833457	NC_000023.10:g.(?_82763333)_(86924394_?)del	APOOL, CHM +9 more	Deletion	not provided	GPathogenic
Select item 832734	NC_000023.10:g.(?_83576897)_(86924394_?)del	APOOL, CHM +6 more	Deletion	not provided	GPathogenic
Select item 832217	NC_000023.10:g.(?_83372068)_(86890775_?)del	APOOL, SATL1 +7 more	Deletion	not provided	GPathogenic
Select item 831865	NC_000023.10:g.(?_83126460)_(86924394_?)del	APOOL, CHM +8 more	Deletion	not provided	GPathogenic
Select item 831838	NC_000023.10:g.(?_85090756)_(86924394_?)del	CHM, DACH2 +1 more	Deletion	not provided	GPathogenic
Select item 816369	GRCh37/hg19 Xq21.31(chrX:86531702-87111001)x3	KLHL4	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 708854	NM_019117.5(KLHL4):c.492C>T (p.His164=)	KLHL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	RBMX2, RBMXL3 +525 more	Copy number loss	not provided	GUncertain significance
Select item 686630	GRCh37/hg19 Xq13.3-21.31(chrX:74667077-90312981)x1	APOOL, ATP7A +34 more	Copy number loss	not provided	GPathogenic
Select item 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AMOT, APLN +503 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	ZNF275, ZNF280C +821 more	Copy number gain	not provided	GPathogenic
Select item 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ITGB1BP2, RGN +281 more	Copy number loss	not provided	GPathogenic
Select item 626291	Single allele	PAGE2B, PAGE3 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
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 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	ABCB7, ACE2 +415 more	Copy number gain	not provided	GPathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	ADGRG4, ACTRT1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 488014	Single allele	LOC130068573, LOC130068624 +2631 more	Duplication	Schizophrenia +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	TBL1X, TBX22 +818 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	ABCB7, ACE2 +539 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	ABCB7, ABCD1 +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	RBMX2, RBMXL3 +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	PPP1R3F, RGN +300 more	Copy number loss	See cases	GPathogenic
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	HDAC8, HDX +731 more	Copy number loss	See cases	GPathogenic
Select item 442646	GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	LHFPL1, LONRF3 +505 more	Copy number gain	See cases	GPathogenic
Select item 442531	GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	MECP2, MED12 +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	ABCB7, ABCD1 +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	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	FAM133A, FAM156A +819 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	FOXO4, FOXP3 +819 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	TMSB4X, TNMD +819 more	Copy number gain	See cases	GPathogenic
Select item 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	GPKOW, PIN4 +819 more	Copy number gain	See cases	GPathogenic
Select item 394672	GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	CT47A11, CT47A12 +818 more	Copy number loss	See cases	GPathogenic
Select item 394066	GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4	CT47A2, CT47A3 +299 more	Copy number gain	See cases	GPathogenic
Select item 394013	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	CT45A2, PIN4 +819 more	Copy number loss	See cases	GPathogenic
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	GAGE12F, GAGE12G +822 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +504 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	FOXP3, FOXR2 +786 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	MCTS1, MECP2 +821 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +504 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	ABCB7, ABCD1 +821 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	EOLA2, ERAS +822 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	RENBP, REPS2 +821 more	Copy number gain	See cases	GPathogenic

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