ClinVar for Gene (Select 2747) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370387	GRCh38/hg38 Xq24-25(chrX:119043046-123885987)x2	AKAP14, ATP1B4 +108 more	Copy number gain	Intellectual disability	GPathogenic
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3281672	NM_012084.4(GLUD2):c.116C>T (p.Ala39Val)	GLUD2 (A39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281671	NM_012084.4(GLUD2):c.8G>C (p.Arg3Pro)	GLUD2 (R3P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281670	NM_012084.4(GLUD2):c.145G>A (p.Ala49Thr)	GLUD2 (A49T)	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 3100398	NM_012084.4(GLUD2):c.910T>G (p.Phe304Val)	GLUD2 (F304V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100397	NM_012084.4(GLUD2):c.802C>T (p.Arg268Cys)	GLUD2 (R268C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100396	NM_012084.4(GLUD2):c.376G>T (p.Asp126Tyr)	GLUD2 (D126Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100395	NM_012084.4(GLUD2):c.373G>T (p.Asp125Tyr)	GLUD2 (D125Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100394	NM_012084.4(GLUD2):c.295C>T (p.Arg99Trp)	GLUD2 (R99W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100393	NM_012084.4(GLUD2):c.193A>G (p.Asn65Asp)	GLUD2 (N65D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100392	NM_012084.4(GLUD2):c.1592G>A (p.Gly531Glu)	GLUD2 (G531E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100391	NM_012084.4(GLUD2):c.145G>T (p.Ala49Ser)	GLUD2 (A49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100389	NM_012084.4(GLUD2):c.1108A>G (p.Ser370Gly)	GLUD2 (S370G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
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	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 2690949	NM_012084.4(GLUD2):c.412C>T (p.Gln138Ter)	GLUD2 (Q138*)	Single nucleotide variant (nonsense)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2685761	GRCh37/hg19 Xq23-25(chrX:110921170-124327177)x2	AGTR2, AKAP14 +66 more	Copy number gain	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	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 2664884	NM_012084.4(GLUD2):c.256G>A (p.Val86Met)	GLUD2 (V86M)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GUncertain significance
Select item 2661343	NM_012084.4(GLUD2):c.1495G>A (p.Gly499Ser)	GLUD2 (G499S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661342	NM_012084.4(GLUD2):c.1063C>T (p.His355Tyr)	GLUD2 (H355Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661341	NM_012084.4(GLUD2):c.786A>G (p.Gln262=)	GLUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661340	NM_012084.4(GLUD2):c.257T>G (p.Val86Gly)	GLUD2 (V86G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2615455	NM_012084.4(GLUD2):c.542G>A (p.Gly181Asp)	GLUD2 (G181D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614410	NM_012084.4(GLUD2):c.1612G>A (p.Ala538Thr)	GLUD2 (A538T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593534	NM_012084.4(GLUD2):c.38G>T (p.Arg13Leu)	GLUD2 (R13L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2589564	NM_012084.4(GLUD2):c.148C>T (p.Arg50Trp)	GLUD2 (R50W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554196	NM_012084.4(GLUD2):c.1651A>G (p.Ser551Gly)	GLUD2 (S551G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538144	NM_012084.4(GLUD2):c.569C>T (p.Pro190Leu)	GLUD2 (P190L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526225	NM_012084.4(GLUD2):c.172G>T (p.Ala58Ser)	GLUD2 (A58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522284	NM_012084.4(GLUD2):c.259A>G (p.Lys87Glu)	GLUD2 (K87E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519943	NM_012084.4(GLUD2):c.715A>G (p.Thr239Ala)	GLUD2 (T239A)	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 2491793	NM_012084.4(GLUD2):c.1083C>A (p.Phe361Leu)	GLUD2 (F361L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485485	NM_012084.4(GLUD2):c.451C>T (p.Arg151Cys)	GLUD2 (R151C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483678	NM_012084.4(GLUD2):c.797A>G (p.His266Arg)	GLUD2 (H266R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345495	NM_012084.4(GLUD2):c.554G>C (p.Gly185Ala)	GLUD2 (G185A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310484	NM_012084.4(GLUD2):c.1348A>G (p.Ser450Gly)	GLUD2 (S450G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306894	NM_012084.4(GLUD2):c.539G>T (p.Gly180Val)	GLUD2 (G180V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293698	NM_012084.4(GLUD2):c.1088A>G (p.Lys363Arg)	GLUD2 (K363R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245798	NM_012084.4(GLUD2):c.677T>C (p.Met226Thr)	GLUD2 (M226T)	Single nucleotide variant (missense variant)	not specified	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 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 1341314	GRCh37/hg19 Xq24-25(chrX:119173583-126584360)x2	ATP1B4, C1GALT1C1 +31 more	Copy number gain	not provided	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 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 980319	GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3	C1GALT1C1, CT47A1 +69 more	Copy number gain	not provided	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 816382	GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2	ACTRT1, AIFM1 +69 more	Copy number gain	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 786710	NM_012084.4(GLUD2):c.1241A>G (p.Asp414Gly)	GLUD2 (D414G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777827	NM_012084.4(GLUD2):c.94C>A (p.Arg32=)	GLUD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 748704	NM_012084.4(GLUD2):c.372C>A (p.Arg124=)	GLUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741661	NM_012084.4(GLUD2):c.534G>A (p.Pro178=)	GLUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
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 687132	GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	ABCD1, ACTRT1 +262 more	Copy number loss	not provided	GPathogenic
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	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 564888	GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3	ACTRT1, ADGRG4 +122 more	Copy number gain	not provided	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	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 443630	GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1	LRCH2, LUZP4 +277 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 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 442262	GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1	ABCD1, ACTRT1 +266 more	Copy number loss	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 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

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