NYNRIN[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 154806	GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1	ADCY4, CARMIL3 +122 more	Copy number loss	See cases	GPathogenic
Select item 3301776	NM_025081.3(NYNRIN):c.8T>C (p.Leu3Pro)	NYNRIN (L3P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2700706	NM_025081.3(NYNRIN):c.85C>T (p.Leu29=)	NYNRIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3377788	NM_025081.3(NYNRIN):c.125T>A (p.Phe42Tyr)	NYNRIN (F42Y)	Single nucleotide variant (missense variant)	Wilms tumor predisposition	GUncertain significance
Select item 2299354	NM_025081.3(NYNRIN):c.148T>C (p.Tyr50His)	NYNRIN (Y50H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203598	NM_025081.3(NYNRIN):c.185T>C (p.Met62Thr)	NYNRIN (M62T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2808897	NM_025081.3(NYNRIN):c.199-13C>T	NYNRIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2798126	NM_025081.3(NYNRIN):c.199-11A>G	NYNRIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2713803	NM_025081.3(NYNRIN):c.199-5C>T	NYNRIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2607181	NM_025081.3(NYNRIN):c.203A>G (p.Tyr68Cys)	NYNRIN (Y68C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203604	NM_025081.3(NYNRIN):c.244C>T (p.Arg82Cys)	NYNRIN (R82C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2846466	NM_025081.3(NYNRIN):c.285A>G (p.Gln95=)	NYNRIN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2857056	NM_025081.3(NYNRIN):c.339C>T (p.Gly113=)	NYNRIN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2294979	NM_025081.3(NYNRIN):c.343C>G (p.Pro115Ala)	NYNRIN (P115A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2714679	NM_025081.3(NYNRIN):c.363C>T (p.Gly121=)	NYNRIN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2359703	NM_025081.3(NYNRIN):c.475G>T (p.Val159Leu)	NYNRIN (V159L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3377789	NM_025081.3(NYNRIN):c.551C>T (p.Ala184Val)	NYNRIN (A184V)	Single nucleotide variant (missense variant)	Wilms tumor predisposition	GUncertain significance
Select item 2635407	NM_025081.3(NYNRIN):c.551C>A (p.Ala184Glu)	NYNRIN (A184E)	Single nucleotide variant (missense variant)	NYNRIN-related disorder	GUncertain significance
Select item 3203620	NM_025081.3(NYNRIN):c.592G>A (p.Gly198Ser)	NYNRIN (G198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522771	NM_025081.3(NYNRIN):c.623G>A (p.Arg208His)	NYNRIN (R208H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2281916	NM_025081.3(NYNRIN):c.629G>C (p.Gly210Ala)	NYNRIN (G210A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301766	NM_025081.3(NYNRIN):c.653C>T (p.Pro218Leu)	NYNRIN (P218L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410610	NM_025081.3(NYNRIN):c.671C>T (p.Pro224Leu)	NYNRIN (P224L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301778	NM_025081.3(NYNRIN):c.698C>T (p.Ala233Val)	NYNRIN (A233V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203621	NM_025081.3(NYNRIN):c.733G>A (p.Val245Met)	NYNRIN (V245M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2715330	NM_025081.3(NYNRIN):c.790C>T (p.Leu264=)	NYNRIN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2847366	NM_025081.3(NYNRIN):c.823A>G (p.Ser275Gly)	NYNRIN (S275G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2721462	NM_025081.3(NYNRIN):c.848A>G (p.Gln283Arg)	NYNRIN (Q283R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3203622	NM_025081.3(NYNRIN):c.884T>C (p.Met295Thr)	NYNRIN (M295T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2598501	NM_025081.3(NYNRIN):c.916G>A (p.Ala306Thr)	NYNRIN (A306T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251025	NM_025081.3(NYNRIN):c.932A>G (p.Asp311Gly)	NYNRIN (D311G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372644	NM_025081.3(NYNRIN):c.953C>A (p.Ala318Asp)	NYNRIN (A318D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589948	NM_025081.3(NYNRIN):c.969G>C (p.Arg323Ser)	NYNRIN (R323S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2708434	NM_025081.3(NYNRIN):c.1053C>T (p.Thr351=)	NYNRIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635485	NM_025081.3(NYNRIN):c.1258_1259delinsAT (p.Glu420Met)	NYNRIN (E420M)	Indel (missense variant)	NYNRIN-related disorder	GUncertain significance
Select item 2894417	NM_025081.3(NYNRIN):c.1274C>T (p.Pro425Leu)	NYNRIN (P425L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2221809	NM_025081.3(NYNRIN):c.1288C>A (p.Pro430Thr)	NYNRIN (P430T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234365	NM_025081.3(NYNRIN):c.1297A>C (p.Arg433=)	NYNRIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2476024	NM_025081.3(NYNRIN):c.1306G>C (p.Gly436Arg)	NYNRIN (G436R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2804142	NM_025081.3(NYNRIN):c.1370C>T (p.Thr457Met)	NYNRIN (T457M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2609676	NM_025081.3(NYNRIN):c.1388C>T (p.Pro463Leu)	NYNRIN (P463L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2910740	NM_025081.3(NYNRIN):c.1399G>A (p.Asp467Asn)	NYNRIN (D467N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2495805	NM_025081.3(NYNRIN):c.1471G>C (p.Ala491Pro)	NYNRIN (A491P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537209	NM_025081.3(NYNRIN):c.1484C>T (p.Pro495Leu)	NYNRIN (P495L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2516360	NM_025081.3(NYNRIN):c.1484C>G (p.Pro495Arg)	NYNRIN (P495R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2796450	NM_025081.3(NYNRIN):c.1485G>A (p.Pro495=)	NYNRIN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2378875	NM_025081.3(NYNRIN):c.1495G>A (p.Gly499Arg)	NYNRIN (G499R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301781	NM_025081.3(NYNRIN):c.1506G>C (p.Gln502His)	NYNRIN (Q502H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455295	NM_025081.3(NYNRIN):c.1519G>A (p.Gly507Arg)	NYNRIN (G507R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301771	NM_025081.3(NYNRIN):c.1531G>A (p.Gly511Arg)	NYNRIN (G511R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394100	NM_025081.3(NYNRIN):c.1552A>G (p.Thr518Ala)	NYNRIN (T518A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2857667	NM_025081.3(NYNRIN):c.1569C>T (p.Pro523=)	NYNRIN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3203596	NM_025081.3(NYNRIN):c.1673C>G (p.Pro558Arg)	NYNRIN (P558R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301770	NM_025081.3(NYNRIN):c.1790C>G (p.Ala597Gly)	NYNRIN (A597G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203597	NM_025081.3(NYNRIN):c.1827T>G (p.Asn609Lys)	NYNRIN (N609K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050909	NM_025081.3(NYNRIN):c.1899A>G (p.Ala633=)	NYNRIN	Single nucleotide variant (synonymous variant)	NYNRIN-related disorder	GLikely benign
Select item 2211576	NM_025081.3(NYNRIN):c.1916G>C (p.Gly639Ala)	NYNRIN (G639A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779270	NM_025081.3(NYNRIN):c.1921A>C (p.Lys641Gln)	NYNRIN (K641Q)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2734767	NM_025081.3(NYNRIN):c.1958_1975dup (p.Ala658_Ala659insValSerLysAlaProAla)	NYNRIN	Duplication (inframe_insertion)	not provided	GBenign
Select item 2217370	NM_025081.3(NYNRIN):c.1965A>T (p.Lys655Asn)	NYNRIN (K655N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2701422	NM_025081.3(NYNRIN):c.1968A>G (p.Ala656=)	NYNRIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3203599	NM_025081.3(NYNRIN):c.2005C>T (p.Pro669Ser)	NYNRIN (P669S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214881	NM_025081.3(NYNRIN):c.2041C>T (p.Pro681Ser)	NYNRIN (P681S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489649	NM_025081.3(NYNRIN):c.2060C>T (p.Pro687Leu)	NYNRIN (P687L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203600	NM_025081.3(NYNRIN):c.2107G>C (p.Val703Leu)	NYNRIN (V703L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301775	NM_025081.3(NYNRIN):c.2134T>G (p.Ser712Ala)	NYNRIN (S712A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203601	NM_025081.3(NYNRIN):c.2135C>T (p.Ser712Phe)	NYNRIN (S712F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2742085	NM_025081.3(NYNRIN):c.2148C>T (p.Gly716=)	NYNRIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720479	NM_025081.3(NYNRIN):c.2161G>C (p.Gly721Arg)	NYNRIN (G721R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3301780	NM_025081.3(NYNRIN):c.2202C>G (p.Ser734Arg)	NYNRIN (S734R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2705978	NM_025081.3(NYNRIN):c.2233C>T (p.Leu745=)	NYNRIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711617	NM_025081.3(NYNRIN):c.2247G>A (p.Glu749=)	NYNRIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3203602	NM_025081.3(NYNRIN):c.2261A>G (p.Gln754Arg)	NYNRIN (Q754R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286300	NM_025081.3(NYNRIN):c.2263C>A (p.Pro755Thr)	NYNRIN (P755T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2628874	NM_025081.3(NYNRIN):c.2333C>T (p.Pro778Leu)	NYNRIN (P778L)	Single nucleotide variant (missense variant)	NYNRIN-related disorder	GUncertain significance
Select item 3203603	NM_025081.3(NYNRIN):c.2356G>A (p.Glu786Lys)	NYNRIN (E786K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599812	NM_025081.3(NYNRIN):c.2359C>A (p.Pro787Thr)	NYNRIN (P787T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2702361	NM_025081.3(NYNRIN):c.2377C>T (p.Arg793Trp)	NYNRIN (R793W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2480851	NM_025081.3(NYNRIN):c.2378G>A (p.Arg793Gln)	NYNRIN (R793Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2808742	NM_025081.3(NYNRIN):c.2391C>T (p.Ile797=)	NYNRIN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2701379	NM_025081.3(NYNRIN):c.2414+12C>T	NYNRIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806194	NM_025081.3(NYNRIN):c.2414+16C>T	NYNRIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2710132	NM_025081.3(NYNRIN):c.2546-3C>T	NYNRIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3203605	NM_025081.3(NYNRIN):c.2573C>T (p.Ser858Leu)	NYNRIN (S858L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2883663	NM_025081.3(NYNRIN):c.2574G>A (p.Ser858=)	NYNRIN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3349575	NM_025081.3(NYNRIN):c.2597C>T (p.Pro866Leu)	NYNRIN (P866L)	Single nucleotide variant (missense variant)	NYNRIN-related disorder	GUncertain significance
Select item 2612373	NM_025081.3(NYNRIN):c.2643G>A (p.Arg881=)	NYNRIN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1684971	NM_025081.3(NYNRIN):c.2650G>A (p.Val884Ile)	NYNRIN (V884I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2715093	NM_025081.3(NYNRIN):c.2729T>C (p.Leu910Pro)	NYNRIN (L910P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796451	NM_025081.3(NYNRIN):c.2744+8G>C	NYNRIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2620889	NM_025081.3(NYNRIN):c.2909G>A (p.Ser970Asn)	NYNRIN (S970N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244981	NM_025081.3(NYNRIN):c.2911G>A (p.Val971Ile)	NYNRIN (V971I)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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