ClinVar for Gene (Select 54476) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379740	NM_207111.4(RNF216):c.868C>G (p.Pro290Ala)	RNF216 (P233A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364427	NM_207111.4(RNF216):c.17A>G (p.Asn6Ser)	RNF216 (N6S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351961	NM_207111.4(RNF216):c.480G>A (p.Pro160=)	RNF216	Single nucleotide variant (synonymous variant)	RNF216-related disorder	GLikely benign
Select item 3343198	NM_207111.4(RNF216):c.451C>A (p.Gln151Lys)	RNF216 (Q151K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341367	NM_207111.4(RNF216):c.1904C>T (p.Pro635Leu)	RNF216 (P578L +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 3314860	NM_207111.4(RNF216):c.362C>T (p.Ser121Phe)	RNF216 (S121F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3314858	NM_207111.4(RNF216):c.1727A>G (p.Tyr576Cys)	RNF216 (Y576C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3314857	NM_207111.4(RNF216):c.949A>G (p.Met317Val)	RNF216 (M260V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3314856	NM_207111.4(RNF216):c.2537C>T (p.Pro846Leu)	RNF216 (P846L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3314855	NM_207111.4(RNF216):c.1277G>A (p.Arg426His)	RNF216 (R426H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3314854	NM_207111.4(RNF216):c.2715G>A (p.Met905Ile)	RNF216 (M848I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245944	NC_000007.13:g.(?_5756327)_(5792630_?)dup	RNF216	Duplication	not provided	GLikely pathogenic
Select item 3245749	NC_000007.13:g.(?_4815347)_(5792630_?)del	ACTB, AP5Z1 +11 more	Deletion	Baraitser-Winter syndrome 1	GUncertain significance
Select item 3155326	NM_207111.4(RNF216):c.92C>G (p.Pro31Arg)	RNF216 (P31R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155325	NM_207111.4(RNF216):c.727C>T (p.Arg243Cys)	RNF216 (R186C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155324	NM_207111.4(RNF216):c.664C>G (p.Gln222Glu)	RNF216 (Q165E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155323	NM_207111.4(RNF216):c.56A>G (p.His19Arg)	RNF216 (H19R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155322	NM_207111.4(RNF216):c.496G>A (p.Ala166Thr)	RNF216 (A109T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155321	NM_207111.4(RNF216):c.479C>T (p.Pro160Leu)	RNF216 (P103L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155320	NM_207111.4(RNF216):c.377A>G (p.Asp126Gly)	RNF216 (D69G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155318	NM_207111.4(RNF216):c.2605G>A (p.Val869Met)	RNF216 (V812M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155317	NM_207111.4(RNF216):c.2592C>G (p.Phe864Leu)	RNF216 (F807L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155316	NM_207111.4(RNF216):c.2518G>A (p.Ala840Thr)	RNF216 (A840T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155315	NM_207111.4(RNF216):c.211C>A (p.Pro71Thr)	RNF216 (P71T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3155314	NM_207111.4(RNF216):c.1765G>A (p.Asp589Asn)	RNF216 (D532N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155313	NM_207111.4(RNF216):c.1659G>T (p.Leu553Phe)	RNF216 (L496F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155311	NM_207111.4(RNF216):c.1177A>G (p.Ile393Val)	RNF216 (I336V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155310	NM_207111.4(RNF216):c.1171A>G (p.Arg391Gly)	RNF216 (R391G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155308	NM_207111.4(RNF216):c.1129A>G (p.Asn377Asp)	RNF216 (N377D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062987	GRCh37/hg19 7p22.1(chr7:5376510-5934779)x3	ACTB, FBXL18 +4 more	Copy number gain	not specified	GLikely pathogenic
Select item 3057613	NM_207111.4(RNF216):c.2580G>A (p.Ala860=)	RNF216	Single nucleotide variant (synonymous variant)	RNF216-related disorder	GLikely benign
Select item 3055215	NM_207111.4(RNF216):c.990G>A (p.Gly330=)	RNF216	Single nucleotide variant (synonymous variant)	RNF216-related disorder	GLikely benign
Select item 3020279	NM_207111.4(RNF216):c.1045-7T>A	RNF216	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988243	NM_207111.4(RNF216):c.975G>A (p.Leu325=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984394	NM_207111.4(RNF216):c.2085A>T (p.Gly695=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980188	NM_207111.4(RNF216):c.138G>C (p.Leu46=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976055	NM_207111.4(RNF216):c.2061+8G>A	RNF216	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973078	NM_207111.4(RNF216):c.1389+15C>G	RNF216	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972467	NM_207111.4(RNF216):c.1284C>T (p.Phe428=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969119	NM_207111.4(RNF216):c.1371C>T (p.His457=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968206	NM_207111.4(RNF216):c.1965C>T (p.Tyr655=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904205	NM_207111.4(RNF216):c.1866G>A (p.Thr622=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874484	NM_207111.4(RNF216):c.1834-20G>T	RNF216	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836118	NM_207111.4(RNF216):c.2673G>A (p.Leu891=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809771	NM_207111.4(RNF216):c.2731C>T (p.Leu911=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801611	NM_207111.4(RNF216):c.2453-8C>T	RNF216	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2721883	NM_207111.4(RNF216):c.1549C>T (p.Arg517Ter)	RNF216 (R460* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2684470	GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3	RNF216, SDK1 +48 more	Copy number gain	not provided	GPathogenic
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 2682870	NM_207111.4(RNF216):c.345_351del (p.Asn116fs)	RNF216 (N116fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2663322	NM_207111.4(RNF216):c.607G>C (p.Asp203His)	RNF216 (D146H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2657292	NM_207111.4(RNF216):c.352T>C (p.Leu118=)	RNF216	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657291	NM_207111.4(RNF216):c.1110T>C (p.Tyr370=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657290	NM_207111.4(RNF216):c.2400T>G (p.Leu800=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631310	NM_207111.4(RNF216):c.725C>T (p.Pro242Leu)	RNF216 (P185L +1 more)	Single nucleotide variant (missense variant)	RNF216-related disorder	GUncertain significance
Select item 2611335	NM_207111.4(RNF216):c.2492C>T (p.Pro831Leu)	RNF216 (P774L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595739	NM_207111.4(RNF216):c.2690A>G (p.Asn897Ser)	RNF216 (N897S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2571304	GRCh37/hg19 7p22.1(chr7:5770346-5770448)x3	RNF216	Copy number gain	not provided	GLikely benign
Select item 2550511	NM_207111.4(RNF216):c.1309G>T (p.Ala437Ser)	RNF216 (A437S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550510	NM_207111.4(RNF216):c.1267C>T (p.Leu423Phe)	RNF216 (L423F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538311	NM_207111.4(RNF216):c.1306A>C (p.Met436Leu)	RNF216 (M379L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501625	NM_207111.4(RNF216):c.1779C>G (p.Phe593Leu)	RNF216 (F536L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2501423	NM_207111.4(RNF216):c.2279G>A (p.Cys760Tyr)	RNF216 (C703Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499035	NM_207111.4(RNF216):c.1020C>T (p.Leu340=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2486179	NM_207111.4(RNF216):c.545A>T (p.Glu182Val)	RNF216 (E125V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483721	NM_207111.4(RNF216):c.1491C>G (p.Phe497Leu)	RNF216 (F440L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479109	NM_207111.4(RNF216):c.1153T>G (p.Tyr385Asp)	RNF216 (Y385D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470801	NM_207111.4(RNF216):c.817G>A (p.Ala273Thr)	RNF216 (A273T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466877	NM_207111.4(RNF216):c.2240G>T (p.Arg747Leu)	RNF216 (R690L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444427	NM_207111.4(RNF216):c.986G>A (p.Trp329Ter)	RNF216 (W272* +1 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia-hypogonadism syndrome	GPathogenic
Select item 2435451	NM_207111.4(RNF216):c.1644G>C (p.Glu548Asp)	RNF216 (E491D +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 2435450	NM_207111.4(RNF216):c.1del (p.Met1fs)	RNF216 (M1fs)	Deletion (frameshift variant +1 more)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 2435449	NM_207111.4(RNF216):c.54C>G (p.Cys18Trp)	RNF216 (C18W)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 2427774	NC_000007.13:g.(?_5769043)_(5769247_?)del	RNF216	Deletion	not provided	GUncertain significance
Select item 2419863	NM_207111.4(RNF216):c.2316A>G (p.Gln772=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2418394	NM_207111.4(RNF216):c.728G>A (p.Arg243His)	RNF216 (R186H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414265	NM_207111.4(RNF216):c.206A>G (p.Asn69Ser)	RNF216 (N69S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2391855	NM_207111.4(RNF216):c.2353T>C (p.Ser785Pro)	RNF216 (S728P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389872	NM_207111.4(RNF216):c.2570A>G (p.Tyr857Cys)	RNF216 (Y800C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364122	NM_207111.4(RNF216):c.1621C>G (p.Gln541Glu)	RNF216 (Q484E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362981	NM_207111.4(RNF216):c.391T>C (p.Tyr131His)	RNF216 (Y74H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321267	NM_207111.4(RNF216):c.2243T>C (p.Met748Thr)	RNF216 (M748T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321200	NM_207111.4(RNF216):c.233T>C (p.Leu78Pro)	RNF216 (L78P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316771	NM_207111.4(RNF216):c.1826C>T (p.Ser609Phe)	RNF216 (S552F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313298	NM_207111.4(RNF216):c.482G>C (p.Ser161Thr)	RNF216 (S104T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292512	NM_207111.4(RNF216):c.2402T>C (p.Ile801Thr)	RNF216 (I801T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291963	NM_207111.4(RNF216):c.953A>G (p.Gln318Arg)	RNF216 (Q261R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287248	NM_207111.4(RNF216):c.1272C>G (p.Asp424Glu)	RNF216 (D367E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277054	NM_207111.4(RNF216):c.692A>G (p.Asp231Gly)	RNF216 (D231G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272337	NM_207111.4(RNF216):c.2000T>G (p.Phe667Cys)	RNF216 (F610C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269373	NM_207111.4(RNF216):c.2579C>T (p.Ala860Val)	RNF216 (A860V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2251606	NM_207111.4(RNF216):c.940G>C (p.Ala314Pro)	RNF216 (A257P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239416	NM_207111.4(RNF216):c.1100A>G (p.Lys367Arg)	RNF216 (K367R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231921	NM_207111.4(RNF216):c.1262C>T (p.Thr421Ile)	RNF216 (T364I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231811	NM_207111.4(RNF216):c.748G>A (p.Val250Ile)	RNF216 (V193I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217376	NM_207111.4(RNF216):c.2680G>C (p.Val894Leu)	RNF216 (V837L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2192082	NM_207111.4(RNF216):c.2158A>G (p.Ile720Val)	RNF216 (I663V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188921	NM_207111.4(RNF216):c.1762G>A (p.Ala588Thr)	RNF216 (A588T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2177824	NM_207111.4(RNF216):c.2043T>C (p.Pro681=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176493	NM_207111.4(RNF216):c.1646A>G (p.His549Arg)	RNF216 (H549R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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