ClinVar for Gene (Select 8277) - 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 3326260	NM_012253.4(TKTL1):c.678G>C (p.Glu226Asp)	TKTL1 (E220D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326258	NM_012253.4(TKTL1):c.697G>A (p.Ala233Thr)	TKTL1 (A177T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326257	NM_012253.4(TKTL1):c.214C>G (p.Pro72Ala)	TKTL1 (P72A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326256	NM_012253.4(TKTL1):c.1051G>A (p.Ala351Thr)	TKTL1 (A345T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326255	NM_012253.4(TKTL1):c.1313C>A (p.Ala438Asp)	TKTL1 (A382D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326254	NM_012253.4(TKTL1):c.899C>T (p.Ala300Val)	TKTL1 (A244V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243728	NC_000023.10:g.(?_152954030)_(154005142_?)del	SSR4, TEX28 +40 more	Deletion	Spastic paraplegia +6 more	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3177711	NM_012253.4(TKTL1):c.802C>G (p.Pro268Ala)	TKTL1 (P212A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177710	NM_012253.4(TKTL1):c.574G>A (p.Val192Met)	TKTL1 (V136M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177709	NM_012253.4(TKTL1):c.1777A>G (p.Met593Val)	TKTL1 (M593V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177708	NM_012253.4(TKTL1):c.1697T>C (p.Val566Ala)	TKTL1 (V560A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177707	NM_012253.4(TKTL1):c.1337C>T (p.Thr446Ile)	TKTL1 (T440I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3066030	NC_000023.11:g.153670446_154329698dup	ABCD1, ARHGAP4 +59 more	Duplication	Chromosome Xq28 duplication syndrome	GPathogenic
Select item 3062554	GRCh37/hg19 Xq28(chrX:153200064-153624564)	EMD, FLNA +11 more	Copy number gain	not specified	GPathogenic
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 3062367	NC_000023.11:g.154161393_154377600dup	FLNA, LOC107988032 +14 more	Duplication	Hereditary factor VIII deficiency disease	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 2685778	GRCh37/hg19 Xq28(chrX:153549167-153858492)x2	ATP6AP1, CTAG1A +16 more	Copy number gain	not provided	GPathogenic
Select item 2685775	GRCh37/hg19 Xq28(chrX:152941303-153549189)x2	OPN1LW, OPN1MW +20 more	Copy number gain	not provided	GPathogenic
Select item 2685774	GRCh37/hg19 Xq28(chrX:152916854-154775938)x2	GDI1, H2AB1 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685772	GRCh37/hg19 Xq28(chrX:152707335-153624154)x2	ABCD1, ARHGAP4 +29 more	Copy number gain	not provided	GPathogenic
Select item 2685724	GRCh37/hg19 Xq28(chrX:148598351-154943978)x1	ABCD1, ARHGAP4 +110 more	Copy number loss	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 2589125	NM_012253.4(TKTL1):c.1177G>T (p.Val393Leu)	TKTL1 (V387L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580294	GRCh37/hg19 Xq28(chrX:153217915-153618382)x2	EMD, FLNA +9 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 2561219	NM_012253.4(TKTL1):c.93G>T (p.Leu31Phe)	TKTL1 (L31F)	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 2497748	GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)	ABCD1, AFF2 +140 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 2475775	NM_012253.4(TKTL1):c.51C>G (p.Asp17Glu)	TKTL1 (D17E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459870	NM_012253.4(TKTL1):c.961T>C (p.Phe321Leu)	TKTL1 (F315L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459762	NM_012253.4(TKTL1):c.373A>G (p.Ser125Gly)	TKTL1 (S69G +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2425259	NC_000023.10:g.(?_153195397)_(153642547_?)dup	EMD, DNASE1L1 +14 more	Duplication	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 2424175	NC_000023.10:g.(?_153195397)_(153583460_?)dup	OPN1LW, OPN1MW +10 more	Duplication	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2424169	NC_000023.10:g.(?_153128118)_(153664237_?)dup	DNASE1L1, EMD +18 more	Duplication	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 2423563	NC_000023.10:g.(?_152014869)_(154563736_?)del	CMC4, CTAG1A +68 more	Deletion	Dyskeratosis congenita	GUncertain significance
Select item 2422371	NC_000023.10:g.(?_153357622)_(153664237_?)dup	ATP6AP1, DNASE1L1 +10 more	Duplication	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2422162	NC_000023.10:g.(?_153001546)_(154563736_?)dup	CTAG1A, CTAG1B +50 more	Duplication	Adrenoleukodystrophy	GUncertain significance
Select item 2422157	NC_000023.10:g.(?_152014869)_(155171615_?)del	ABCD1, ARHGAP4 +73 more	Deletion	Heterotopia, periventricular, X-linked dominant +8 more	GPathogenic
Select item 2365516	NM_012253.4(TKTL1):c.1253C>T (p.Thr418Met)	TKTL1 (T412M +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2351958	NM_012253.4(TKTL1):c.89G>A (p.Arg30His)	TKTL1 (R30H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312109	NM_012253.4(TKTL1):c.1310A>G (p.Asn437Ser)	TKTL1 (N437S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305282	NM_012253.4(TKTL1):c.1088T>G (p.Phe363Cys)	TKTL1 (F363C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281354	NM_012253.4(TKTL1):c.1156A>G (p.Ile386Val)	TKTL1 (I330V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280825	NM_012253.4(TKTL1):c.1069A>G (p.Ile357Val)	TKTL1 (I357V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278578	NM_012253.4(TKTL1):c.488C>T (p.Ala163Val)	TKTL1 (A107V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276917	NM_012253.4(TKTL1):c.1379G>A (p.Arg460His)	TKTL1 (R404H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269154	NM_012253.4(TKTL1):c.1523T>C (p.Leu508Pro)	TKTL1 (L508P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249367	NM_012253.4(TKTL1):c.1605T>A (p.Asp535Glu)	TKTL1 (D479E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239441	NM_012253.4(TKTL1):c.125C>T (p.Thr42Met)	TKTL1 (T42M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232642	NM_012253.4(TKTL1):c.110G>T (p.Arg37Met)	TKTL1 (R37M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210800	NM_012253.4(TKTL1):c.292C>G (p.Gln98Glu)	TKTL1 (Q42E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808722	GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	ABCD1, ACTRT1 +216 more	Copy number loss	not provided	GPathogenic
Select item 1808582	GRCh37/hg19 Xq28(chrX:153421785-153624604)x2	EMD, FLNA +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808427	GRCh37/hg19 Xq28(chrX:153282944-153681801)x3	ATP6AP1, DNASE1L1 +13 more	Copy number gain	not provided	GPathogenic
Select item 1710916	GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1	ABCD1, BCAP31 +129 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 1703577	GRCh37/hg19 Xq28(chrX:152815772-153624215)	ABCD1, ARHGAP4 +26 more	Copy number gain	Global developmental delay	GPathogenic
Select item 1703536	GRCh37/hg19 Xq28(chrX:152372767-155233731)	CLIC2, CMC4 +68 more	Copy number gain	Chromosome Xq28 duplication syndrome +1 more	GPathogenic
Select item 1695898	GRCh37/hg19 Xq28(chrX:153529891-155114697)x3	SMIM9, TAFAZZIN +36 more	Copy number gain	not provided	Gnot provided
Select item 1684654	Single allele	HCFC1-AS1, IDH3G +200 more	Deletion	Ectodermal dysplasia and immunodeficiency 1 +5 more	GPathogenic
Select item 1526877	GRCh37/hg19 Xq28(chrX:153135263-153594168)	ARHGAP4, AVPR2 +13 more	Copy number gain	not specified	GPathogenic
Select item 1526876	GRCh37/hg19 Xq28(chrX:153113943-153624020)	ARHGAP4, AVPR2 +14 more	Copy number gain	not specified	GPathogenic
Select item 1526872	GRCh37/hg19 Xq28(chrX:152970475-153524157)	ABCD1, ARHGAP4 +19 more	Copy number gain	not specified	GPathogenic
Select item 1471983	NC_000023.10:g.(?_152986307)_(153593345_?)dup	IRAK1, OPN1MW2 +20 more	Duplication	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 1342311	Single allele	ABCD1, AFF2 +337 more	Duplication	Syndromic X-linked intellectual disability Lubs type	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 1341085	GRCh37/hg19 Xq28(chrX:153093501-153792322)x2	ARHGAP4, ATP6AP1 +28 more	Copy number gain	not provided	GPathogenic
Select item 1205968	NM_012253.4(TKTL1):c.1283C>T (p.Thr428Met)	TKTL1 (T372M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1065195	GRCh38/hg38 Xq28(chrX:153858452-154332213)x2	ARHGAP4, AVPR2 +41 more	Copy number gain	Chromosome Xq28 duplication syndrome	GPathogenic
Select item 1013587	GRCh37/hg19 Xq28(chrX:153263517-155260560)x2	H2AB3, IKBKG +43 more	Copy number gain	Intellectual disability	GPathogenic
Select item 1013586	GRCh37/hg19 Xq28(chrX:153194251-153623000)x2	OPN1LW, OPN1MW +11 more	Copy number gain	Intellectual disability	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 980883	GRCh37/hg19 Xq28(chrX:153135257-153594096)x3	ARHGAP4, AVPR2 +13 more	Copy number gain	not provided	GPathogenic
Select item 980882	GRCh37/hg19 Xq28(chrX:153113943-153624215)x2	ARHGAP4, AVPR2 +14 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 916135	GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	APLN, ABCD1 +221 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 831241	NC_000023.10:g.(?_152990712)_(153650075_?)dup	ARHGAP4, ABCD1 +23 more	Duplication	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 816414	GRCh37/hg19 Xq28(chrX:153029046-153567369)x3	PLXNB3, L1CAM +17 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 779002	NM_012253.4(TKTL1):c.23C>T (p.Ala8Val)	TKTL1 (A8V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688406	GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	ABCD1, ACTRT1 +220 more	Copy number loss	not provided	GPathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 687826	GRCh37/hg19 Xq28(chrX:153437215-153594094)x3	FLNA, OPN1MW +3 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 687132	GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	ABCD1, ACTRT1 +262 more	Copy number loss	not provided	GPathogenic

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