ClinVar for Gene (Select 60506) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381812	NM_001378477.3(NYX):c.22+5G>T	NYX	Single nucleotide variant (intron variant)	Retinal dystrophy	GPathogenic
Select item 3377892	NM_001378477.3(NYX):c.193G>T (p.Asp65Tyr)	NYX (D65Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369338	NM_001378477.3(NYX):c.782T>A (p.Leu261Gln)	NYX (L261Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367202	NM_001378477.3(NYX):c.544G>C (p.Ala182Pro)	NYX (A182P)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1A	GUncertain significance
Select item 3366312	NM_001378477.3(NYX):c.915C>A (p.Asn305Lys)	NYX (N305K)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 3361839	NM_001378477.3(NYX):c.109C>T (p.Arg37Cys)	NYX (R37C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358283	NM_001378477.3(NYX):c.129C>A (p.Cys43Ter)	NYX (C43*)	Single nucleotide variant (nonsense)	NYX-related disorder	GLikely pathogenic
Select item 3351595	NM_001378477.3(NYX):c.-23C>G	NYX	Single nucleotide variant (5 prime UTR variant)	NYX-related disorder	GLikely benign
Select item 3345511	NM_001378477.3(NYX):c.910C>T (p.Leu304Phe)	NYX (L304F)	Single nucleotide variant (missense variant)	NYX-related disorder	GUncertain significance
Select item 3301785	NM_001378477.3(NYX):c.958G>T (p.Gly320Cys)	NYX (G320C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301784	NM_001378477.3(NYX):c.736C>T (p.Arg246Cys)	NYX (R246C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245362	NC_000023.10:g.(?_41193506)_(41646556_?)dup	CASK, DDX3X +3 more	Duplication	Intellectual disability, CASK-related, X-linked	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 3203625	NM_001378477.3(NYX):c.614C>T (p.Ser205Leu)	NYX (S205L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203624	NM_001378477.3(NYX):c.515C>T (p.Ala172Val)	NYX (A172V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203623	NM_001378477.3(NYX):c.331C>A (p.Arg111Ser)	NYX (R111S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3032462	NM_001378477.3(NYX):c.162G>A (p.Glu54=)	NYX	Single nucleotide variant (synonymous variant)	NYX-related disorder	GLikely benign
Select item 3016356	NM_001378477.3(NYX):c.426C>T (p.Leu142=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010304	NM_001378477.3(NYX):c.872G>C (p.Gly291Ala)	NYX (G291A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007651	NM_001378477.3(NYX):c.348C>T (p.Gly116=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001413	NM_001378477.3(NYX):c.209G>A (p.Arg70His)	NYX (R70H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000102	NM_001378477.3(NYX):c.1058C>T (p.Thr353Ile)	NYX (T353I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999603	NM_001378477.3(NYX):c.488A>G (p.Asp163Gly)	NYX (D163G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999392	NM_001378477.3(NYX):c.249G>A (p.Leu83=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999074	NM_001378477.3(NYX):c.1132G>A (p.Asp378Asn)	NYX (D378N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981656	NM_001378477.3(NYX):c.218G>A (p.Gly73Asp)	NYX (G73D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980889	NM_001378477.3(NYX):c.801C>T (p.Ala267=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962119	NM_001378477.3(NYX):c.558C>T (p.Arg186=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898390	NM_001378477.3(NYX):c.594G>A (p.Gln198=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893809	NM_001378477.3(NYX):c.573G>C (p.Ala191=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892666	NM_001378477.3(NYX):c.885C>T (p.Asn295=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880059	NM_001378477.3(NYX):c.187G>C (p.Asp63His)	NYX (D63H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874525	NM_001378477.3(NYX):c.715G>C (p.Glu239Gln)	NYX (E239Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868321	NM_001378477.3(NYX):c.1119C>T (p.Phe373=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863566	NM_001378477.3(NYX):c.34G>A (p.Gly12Ser)	NYX (G12S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858599	NM_001378477.3(NYX):c.1175C>A (p.Ser392Tyr)	NYX (S392Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851261	NM_001378477.3(NYX):c.1283C>T (p.Thr428Ile)	NYX (T428I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834595	NM_001378477.3(NYX):c.1023G>A (p.Trp341Ter)	NYX (W341*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2827013	NM_001378477.3(NYX):c.242C>G (p.Pro81Arg)	NYX (P81R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815240	NM_001378477.3(NYX):c.1080G>T (p.Pro360=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813169	NM_001378477.3(NYX):c.111C>T (p.Arg37=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811599	NM_001378477.3(NYX):c.1083C>T (p.Gly361=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811275	NM_001378477.3(NYX):c.681G>C (p.Leu227=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810123	NM_001378477.3(NYX):c.844C>A (p.Arg282Ser)	NYX (R282S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794994	NM_001378477.3(NYX):c.893G>A (p.Gly298Asp)	NYX (G298D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794771	NM_001378477.3(NYX):c.1213G>A (p.Val405Met)	NYX (V405M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790665	NM_001378477.3(NYX):c.1115C>A (p.Thr372Asn)	NYX (T372N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789184	NM_001378477.3(NYX):c.871G>A (p.Gly291Ser)	NYX (G291S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787995	NM_001378477.3(NYX):c.953A>T (p.Gln318Leu)	NYX (Q318L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781189	NM_001378477.3(NYX):c.445C>T (p.Leu149Phe)	NYX (L149F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779045	NM_001378477.3(NYX):c.873C>T (p.Gly291=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779024	NM_001378477.3(NYX):c.755G>A (p.Arg252His)	NYX (R252H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771394	NM_001378477.3(NYX):c.88T>C (p.Cys30Arg)	NYX (C30R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2762685	NM_001378477.3(NYX):c.451G>A (p.Ala151Thr)	NYX (A151T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759287	NM_001378477.3(NYX):c.491A>T (p.Asn164Ile)	NYX (N164I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2751962	NM_001378477.3(NYX):c.338C>T (p.Ala113Val)	NYX (A113V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2750697	NM_001378477.3(NYX):c.807_819dup (p.Glu274delinsArgTer)	NYX	Duplication (nonsense)	not provided	GPathogenic
Select item 2739537	NM_001378477.3(NYX):c.1133A>C (p.Asp378Ala)	NYX (D378A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2737209	NM_001378477.3(NYX):c.905T>C (p.Leu302Pro)	NYX (L302P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2737208	NM_001378477.3(NYX):c.605_613dup (p.Arg204_Ser205insCysLeuArg)	NYX	Duplication (inframe_insertion)	not provided	GConflicting classifications of pathogenicity
Select item 2737207	NM_001378477.3(NYX):c.335T>C (p.Leu112Pro)	NYX (L112P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706784	NM_001378477.3(NYX):c.1411T>A (p.Phe471Ile)	NYX (F471I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705038	NM_001378477.3(NYX):c.594G>C (p.Gln198His)	NYX (Q198H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705037	NM_001378477.3(NYX):c.575T>C (p.Val192Ala)	NYX (V192A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704401	NM_001378477.3(NYX):c.1088T>A (p.Val363Glu)	NYX (V363E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704354	NM_001378477.3(NYX):c.329T>C (p.Leu110Pro)	NYX (L110P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2701952	NM_001378477.3(NYX):c.1003T>C (p.Cys335Arg)	NYX (C335R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685740	GRCh37/hg19 Xp11.4(chrX:40805341-41459720)x2	CASK, DDX3X +2 more	Copy number gain	not provided	GUncertain significance
Select item 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685701	GRCh37/hg19 Xp22.11-11.3(chrX:24633854-44236178)x1	XK, ARX +51 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684977	GRCh37/hg19 Xp11.4(chrX:41133882-41368270)x3	DDX3X, NYX	Copy number gain	not provided	GUncertain significance
Select item 2633757	NM_001378477.3(NYX):c.1234C>T (p.Leu412Phe)	NYX (L412F)	Single nucleotide variant (missense variant)	NYX-related disorder	GUncertain significance
Select item 2615521	NM_001378477.3(NYX):c.1032C>G (p.Asp344Glu)	NYX (D344E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596148	NM_001378477.3(NYX):c.38T>G (p.Leu13Arg)	NYX (L13R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579274	GRCh38/hg38 Xp11.4(chrX:41333187-42099271)x1	CASK, CASK-AS1 +20 more	Copy number loss	Syndromic X-linked intellectual disability Najm type +1 more	GPathogenic
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2482428	NM_001378477.3(NYX):c.715G>A (p.Glu239Lys)	NYX (E239K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426767	NC_000023.10:g.(?_41307143)_(41307199_?)dup	NYX	Duplication	not provided	GUncertain significance
Select item 2423950	NC_000023.10:g.(?_39911362)_(41782241_?)del	ATP6AP2, BCOR +9 more	Deletion	Syndromic X-linked intellectual disability Hedera type	GUncertain significance
Select item 2423949	NC_000023.10:g.(?_39911362)_(41782241_?)dup	ATP6AP2, BCOR +9 more	Duplication	not provided	GUncertain significance
Select item 2423545	NC_000023.10:g.(?_40440318)_(41782241_?)dup	ATP6AP2, CASK +8 more	Duplication	not provided	GUncertain significance
Select item 2418178	NM_001378477.3(NYX):c.369G>T (p.Ala123=)	NYX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2337811	NM_001378477.3(NYX):c.589C>G (p.Leu197Val)	NYX (L197V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330968	NM_001378477.3(NYX):c.901G>T (p.Ala301Ser)	NYX (A301S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321453	NM_001378477.3(NYX):c.1381C>T (p.Leu461Phe)	NYX (L461F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317913	NM_001378477.3(NYX):c.596G>A (p.Gly199Asp)	NYX (G199D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267422	NM_001378477.3(NYX):c.145C>G (p.Leu49Val)	NYX (L49V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2189441	NM_001378477.3(NYX):c.1280A>G (p.Asn427Ser)	NYX (N427S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182751	NM_001378477.3(NYX):c.1187C>G (p.Pro396Arg)	NYX (P396R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178993	NM_001378477.3(NYX):c.380C>G (p.Ala127Gly)	NYX (A127G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2144756	NM_001378477.3(NYX):c.1330C>T (p.Arg444Cys)	NYX (R444C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138553	NM_001378477.3(NYX):c.804G>A (p.Trp268Ter)	NYX (W268*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2138552	NM_001378477.3(NYX):c.767T>C (p.Leu256Pro)	NYX (L256P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138551	NM_001378477.3(NYX):c.320T>C (p.Leu107Pro)	NYX (L107P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138550	NM_001378477.3(NYX):c.201C>G (p.Asn67Lys)	NYX (N67K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136225	NM_001378477.3(NYX):c.1076C>T (p.Ser359Phe)	NYX (S359F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133670	NM_001378477.3(NYX):c.100_101insTAGCA (p.Thr34fs)	NYX (T34fs)	Insertion (frameshift variant)	not provided	GPathogenic

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