ClinVar for Gene (Select 8270) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244008	NC_000023.10:g.(?_153592370)_(153775961_?)dup	ATP6AP1, DNASE1L1 +13 more	Duplication	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 3243728	NC_000023.10:g.(?_152954030)_(154005142_?)del	GAB3, GDI1 +40 more	Deletion	Adrenoleukodystrophy +6 more	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 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 3117348	NM_006014.5(LAGE3):c.26G>A (p.Gly9Asp)	LAGE3, LOC130068876 (G9D)	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 3058093	NM_006014.5(LAGE3):c.52C>A (p.Arg18=)	LAGE3, LOC130068876	Single nucleotide variant (synonymous variant)	LAGE3-related disorder	GLikely benign
Select item 3058085	NM_006014.5(LAGE3):c.54G>C (p.Arg18=)	LAGE3, LOC130068876	Single nucleotide variant (synonymous variant)	LAGE3-related disorder	GLikely benign
Select item 3026944	NM_006014.5(LAGE3):c.-5C>T	LAGE3	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3025706	NM_006014.5(LAGE3):c.32G>T (p.Gly11Val)	LAGE3, LOC130068876 (G11V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	GPC4, TAF9B +488 more	Copy number gain	not provided	GPathogenic
Select item 3004473	NM_006014.5(LAGE3):c.156G>A (p.Ala52=)	LAGE3, LOC130068876	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982368	NM_006014.5(LAGE3):c.317T>C (p.Val106Ala)	LAGE3 (V106A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2862312	NM_006014.5(LAGE3):c.78C>G (p.Gly26=)	LAGE3, LOC130068876	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862136	NM_006014.5(LAGE3):c.131G>T (p.Gly44Val)	LAGE3, LOC130068876 (G44V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851403	NM_006014.5(LAGE3):c.181C>T (p.His61Tyr)	LAGE3, LOC130068876 (H61Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795118	NM_006014.5(LAGE3):c.162G>A (p.Arg54=)	LAGE3, LOC130068876	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2756657	NM_006014.5(LAGE3):c.12G>T (p.Ala4=)	LAGE3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2692800	NM_006014.5(LAGE3):c.62A>G (p.His21Arg)	LAGE3, LOC130068876 (H21R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685779	GRCh37/hg19 Xq28(chrX:153606456-153828848)x2	ATP6AP1, CTAG1A +13 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 2685774	GRCh37/hg19 Xq28(chrX:152916854-154775938)x2	GDI1, H2AB1 +58 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 2685025	GRCh37/hg19 Xq28(chrX:153613883-153862775)x3	CTAG1B, DNASE1L1 +13 more	Copy number gain	not provided	GPathogenic
Select item 2665070	NM_006014.5(LAGE3):c.184A>G (p.Ile62Val)	LAGE3, LOC130068876 (I62V)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 2, X-linked	GUncertain significance
Select item 2662112	NM_006014.5(LAGE3):c.305G>A (p.Arg102Lys)	LAGE3 (R102K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637333	NM_006014.5(LAGE3):c.95C>T (p.Ala32Val)	LAGE3, LOC130068876 (A32V)	Single nucleotide variant (missense variant)	LAGE3-related disorder	GUncertain significance
Select item 2637107	NM_006014.5(LAGE3):c.169C>T (p.Arg57Ter)	LAGE3, LOC130068876 (R57*)	Single nucleotide variant (nonsense)	LAGE3-related disorder	GUncertain significance
Select item 2629511	NM_006014.5(LAGE3):c.109G>A (p.Ala37Thr)	LAGE3, LOC130068876 (A37T)	Single nucleotide variant (missense variant)	LAGE3-related disorder	GUncertain significance
Select item 2628818	NM_006014.5(LAGE3):c.375C>G (p.Asp125Glu)	LAGE3 (D125E)	Single nucleotide variant (missense variant)	LAGE3-related disorder	GUncertain significance
Select item 2627534	NM_006014.5(LAGE3):c.262C>T (p.Pro88Ser)	LAGE3 (P88S)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 2, X-linked	GUncertain significance
Select item 2574042	NM_006014.5(LAGE3):c.2T>G (p.Met1Arg)	LAGE3 (M1R)	Single nucleotide variant (missense variant +1 more)	Galloway-Mowat syndrome 2, X-linked	GUncertain significance
Select item 2573023	NM_006014.5(LAGE3):c.189-2A>G	LAGE3	Single nucleotide variant (splice acceptor variant)	Galloway-Mowat syndrome 2, X-linked	GUncertain significance
Select item 2572018	GRCh37/hg19 Xq28(chrX:153566798-153748208)x4	ATP6AP1, DNASE1L1 +11 more	Copy number gain	Chromosome Xq28 duplication syndrome	Gnot provided
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 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 2490387	NM_006014.5(LAGE3):c.139A>G (p.Arg47Gly)	LAGE3, LOC130068876 (R47G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2486329	NM_006014.5(LAGE3):c.85A>G (p.Thr29Ala)	LAGE3, LOC130068876 (T29A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429571	NM_006014.5(LAGE3):c.116dup (p.Ala40fs)	LAGE3, LOC130068876 (A40fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2424174	NC_000023.10:g.(?_153585782)_(153775961_?)dup	PLXNA3, RPL10 +13 more	Duplication	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2423563	NC_000023.10:g.(?_152014869)_(154563736_?)del	ABCD1, ARHGAP4 +68 more	Deletion	Dyskeratosis congenita	GUncertain significance
Select item 2422368	NC_000023.10:g.(?_153640181)_(153775961_?)dup	ATP6AP1, DNASE1L1 +10 more	Duplication	not provided	GUncertain significance
Select item 2422162	NC_000023.10:g.(?_153001546)_(154563736_?)dup	FAM3A, CMC4 +50 more	Duplication	Adrenoleukodystrophy	GUncertain significance
Select item 2422157	NC_000023.10:g.(?_152014869)_(155171615_?)del	ABCD1, ARHGAP4 +73 more	Deletion	X-linked Emery-Dreifuss muscular dystrophy +8 more	GPathogenic
Select item 2375075	NM_006014.5(LAGE3):c.137G>A (p.Gly46Asp)	LAGE3, LOC130068876 (G46D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272791	NM_006014.5(LAGE3):c.193C>A (p.Leu65Ile)	LAGE3 (L65I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272462	NM_006014.5(LAGE3):c.370C>T (p.Leu124Phe)	LAGE3 (L124F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211547	NM_006014.5(LAGE3):c.119C>A (p.Ala40Glu)	LAGE3, LOC130068876 (A40E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2196205	NM_006014.5(LAGE3):c.7G>C (p.Asp3His)	LAGE3 (D3H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2188639	NM_006014.5(LAGE3):c.274G>A (p.Val92Met)	LAGE3 (V92M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186326	NM_006014.5(LAGE3):c.348C>A (p.Leu116=)	LAGE3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2163912	NM_006014.5(LAGE3):c.231C>T (p.Ile77=)	LAGE3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2153401	NM_006014.5(LAGE3):c.415C>A (p.Pro139Thr)	LAGE3 (P139T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2149886	NM_006014.5(LAGE3):c.122A>C (p.His41Pro)	LAGE3, LOC130068876 (H41P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2144225	NM_006014.5(LAGE3):c.28G>A (p.Gly10Arg)	LAGE3, LOC130068876 (G10R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2093903	NM_006014.5(LAGE3):c.127C>A (p.Pro43Thr)	LAGE3, LOC130068876 (P43T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093305	NM_006014.5(LAGE3):c.431A>G (p.Ter144=)	LAGE3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2056836	NM_006014.5(LAGE3):c.50G>A (p.Gly17Asp)	LAGE3, LOC130068876 (G17D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2018782	NM_006014.5(LAGE3):c.15T>G (p.Asp5Glu)	LAGE3 (D5E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002679	NM_006014.5(LAGE3):c.398C>T (p.Thr133Ile)	LAGE3 (T133I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902816	NM_006014.5(LAGE3):c.306G>T (p.Arg102Ser)	LAGE3 (R102S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1900757	NM_006014.5(LAGE3):c.4C>T (p.Arg2Trp)	LAGE3 (R2W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897349	NM_006014.5(LAGE3):c.175C>T (p.Arg59Trp)	LAGE3, LOC130068876 (R59W)	Single nucleotide variant (missense variant)	not provided	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 1807675	GRCh37/hg19 Xq28(chrX:153613883-155233731)x2	ATP6AP1, BRCC3 +33 more	Copy number gain	not provided	GPathogenic
Select item 1803463	NM_006014.5(LAGE3):c.64dup (p.Ser22fs)	LAGE3, LOC130068876 (S22fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1722764	GRCh37/hg19 Xq28(chrX:153560562-153864851)x3	CTAG1A, CTAG1B +15 more	Copy number gain	Septo-optic dysplasia sequence	GLikely pathogenic
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	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 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	CMC4, CTAG1A +200 more	Deletion	Ectodermal dysplasia and immunodeficiency 1 +5 more	GPathogenic
Select item 1579944	NM_006014.5(LAGE3):c.9C>T (p.Asp3=)	LAGE3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1558003	NM_006014.5(LAGE3):c.188+10C>G	LAGE3, LOC130068876	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1522075	NM_006014.5(LAGE3):c.7G>A (p.Asp3Asn)	LAGE3 (D3N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1422711	NM_006014.5(LAGE3):c.27C>T (p.Gly9=)	LAGE3, LOC130068876	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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	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 1341085	GRCh37/hg19 Xq28(chrX:153093501-153792322)x2	ARHGAP4, ATP6AP1 +28 more	Copy number gain	not provided	GPathogenic
Select item 1325579	NM_006014.5(LAGE3):c.287A>T (p.Asp96Val)	LAGE3 (D96V)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 2, X-linked	GUncertain significance
Select item 1319855	NM_006014.5(LAGE3):c.29G>A (p.Gly10Glu)	LAGE3, LOC130068876 (G10E)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 2, X-linked +1 more	GUncertain significance
Select item 1303794	NM_006014.5(LAGE3):c.250C>A (p.Pro84Thr)	LAGE3 (P84T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1243955	NM_017514.5(PLXNA3):c.5022_5023insG	LAGE3, PLXNA3	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 1235001	NM_006014.5(LAGE3):c.*19G>C	LAGE3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	MAMLD1, MAOA +818 more	Copy number loss	not provided	GPathogenic
Select item 1179842	NM_006014.5(LAGE3):c.189-34G>C	LAGE3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1013587	GRCh37/hg19 Xq28(chrX:153263517-155260560)x2	H2AB3, IKBKG +43 more	Copy number gain	Intellectual disability	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 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic

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