ClinVar for Gene (Select 827) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246938	NC_000023.10:g.(?_109919459)_(110653626_?)del	CAPN6, CHRDL1 +2 more	Deletion	not provided	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	MIR1468, MIR1587 +2598 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3137172	NM_014289.4(CAPN6):c.344A>C (p.Glu115Ala)	CAPN6 (E115A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137171	NM_014289.4(CAPN6):c.298A>G (p.Thr100Ala)	CAPN6 (T100A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137170	NM_014289.4(CAPN6):c.1352T>C (p.Ile451Thr)	CAPN6 (I451T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	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 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	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 2661203	NM_014289.4(CAPN6):c.1542G>A (p.Pro514=)	CAPN6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579273	GRCh38/hg38 Xq23(chrX:111250820-111333251)x1	CAPN6, DCX	Copy number loss	Lissencephaly type 1 due to doublecortin gene mutation	GPathogenic
Select item 2540667	NM_014289.4(CAPN6):c.1377C>G (p.Ser459Arg)	CAPN6 (S459R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535064	NM_014289.4(CAPN6):c.1299A>C (p.Lys433Asn)	CAPN6 (K433N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525454	NM_014289.4(CAPN6):c.638A>T (p.Lys213Met)	CAPN6 (K213M)	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 2483731	NM_014289.4(CAPN6):c.1022G>A (p.Arg341His)	CAPN6 (R341H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474702	NM_014289.4(CAPN6):c.340A>G (p.Thr114Ala)	CAPN6 (T114A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472188	NM_014289.4(CAPN6):c.547A>T (p.Thr183Ser)	CAPN6 (T183S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423699	NC_000023.10:g.(?_109919459)_(111003227_?)del	ALG13, CAPN6 +3 more	Deletion	Developmental and epileptic encephalopathy, 36	GUncertain significance
Select item 2410734	NM_014289.4(CAPN6):c.1439G>C (p.Ser480Thr)	CAPN6 (S480T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323337	NM_014289.4(CAPN6):c.1845G>C (p.Lys615Asn)	CAPN6, LOC126863302 (K615N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315650	NM_014289.4(CAPN6):c.1340C>T (p.Thr447Ile)	CAPN6 (T447I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305047	NM_014289.4(CAPN6):c.1555C>G (p.Gln519Glu)	CAPN6 (Q519E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300018	NM_014289.4(CAPN6):c.1256A>G (p.Tyr419Cys)	CAPN6 (Y419C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809431	GRCh37/hg19 Xq23(chrX:108922296-111549785)x1	ACSL4, ALG13 +10 more	Copy number loss	not provided	GPathogenic
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	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 1526844	GRCh37/hg19 Xq23(chrX:110511914-110789961)	CAPN6, DCX	Copy number gain	not specified	GUncertain significance
Select item 1526838	GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)	ACSL4, ALG13 +45 more	Copy number gain	not specified	GPathogenic
Select item 1526834	GRCh37/hg19 Xq22.1-24(chrX:101982475-116885339)	ACSL4, AGTR2 +77 more	Copy number gain	not specified	GPathogenic
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 1328107	GRCh37/hg19 Xq22.3-23(chrX:104782507-112949573)x2	ACSL4, ALG13 +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 1288617	NM_014289.4(CAPN6):c.829G>C (p.Val277Leu)	CAPN6 (V277L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1280648	NM_014289.4(CAPN6):c.297+86C>T	CAPN6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265568	NM_014289.4(CAPN6):c.699+25C>T	CAPN6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258216	NM_014289.4(CAPN6):c.351C>T (p.Tyr117=)	CAPN6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1250758	NM_014289.4(CAPN6):c.894-28dup	CAPN6	Duplication (intron variant)	not provided	GBenign
Select item 1233680	NM_014289.4(CAPN6):c.166-237G>C	CAPN6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225678	NM_014289.4(CAPN6):c.1158+128A>T	CAPN6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224813	NM_014289.4(CAPN6):c.1743+254C>T	CAPN6, LOC126863302	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224551	NM_014289.4(CAPN6):c.700-159T>C	CAPN6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221767	NM_014289.4(CAPN6):c.894-15del	CAPN6	Deletion (intron variant)	not provided	GBenign
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	MAMLD1, MAOA +818 more	Copy number loss	not provided	GPathogenic
Select item 1179669	NM_014289.4(CAPN6):c.1743+105G>A	CAPN6, LOC126863302	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 816378	GRCh37/hg19 Xq22.3-23(chrX:105973323-110619655)x1	ACSL4, AMMECR1 +28 more	Copy number loss	not provided	GLikely pathogenic
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 777822	NM_014289.4(CAPN6):c.1416C>T (p.Thr472=)	CAPN6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688591	GRCh37/hg19 Xq23(chrX:110472421-110789961)x2	CAPN6, DCX	Copy number gain	not provided	GUncertain significance
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 686250	GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	ABCD1, ACSL4 +320 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 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	PAGE2B, PAGE3 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 564884	GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1	FMR1-AS1, FMR1NB +297 more	Copy number loss	not provided	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	ADGRG4, ACTRT1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 545380	Single allele	ALG13, AMMECR1 +54 more	Duplication	Schizophrenia	GLikely pathogenic
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 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	HDAC8, HDX +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	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 395246	GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1	ABCD1, ACSL4 +387 more	Copy number loss	See cases	GPathogenic
Select item 395066	GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1	ABCD1, ACSL4 +314 more	Copy number loss	See cases	GPathogenic
Select item 394846	GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3	ACSL4, ACTRT1 +180 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 394085	GRCh37/hg19 Xq22.3-23(chrX:107370001-110989043)x1	ACSL4, ALG13 +14 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

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