RNF216[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	PSMG3, PSMG3-AS1 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	LOC129997989, LOC129997990 +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	LOC123924897, LOC123924898 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	LOC110120728, LOC110120749 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 148915	GRCh38/hg38 7p22.1(chr7:4849987-5760088)x3	ACTB, FBXL18 +75 more	Copy number gain	See cases	GLikely pathogenic
Select item 59565	GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3	ACTB, AIMP2 +119 more	Copy number gain	See cases	GUncertain significance
Select item 58505	GRCh38/hg38 7p22.1(chr7:5062000-5825183)x1	ACTB, FBXL18 +71 more	Copy number loss	See cases	GPathogenic
Select item 58498	GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1	ACTB, AIMP2 +137 more	Copy number loss	See cases	GPathogenic
Select item 58507	GRCh38/hg38 7p22.1(chr7:5117519-5880375)x1	ACTB, FBXL18 +69 more	Copy number loss	See cases	GPathogenic
Select item 151554	GRCh38/hg38 7p22.1(chr7:5171797-5635439)x3	ACTB, FBXL18 +52 more	Copy number gain	See cases	GUncertain significance
Select item 150142	GRCh38/hg38 7p22.1(chr7:5331115-6751518)x3	ACTB, AIMP2 +120 more	Copy number gain	See cases	GLikely pathogenic
Select item 149767	GRCh38/hg38 7p22.1(chr7:5331115-6340621)x3	RNF216-IT1, RSPH10B +78 more	Copy number gain	See cases	GUncertain significance
Select item 58509	GRCh38/hg38 7p22.1(chr7:5331115-6031221)x1	ACTB, AIMP2 +63 more	Copy number loss	See cases	GPathogenic
Select item 150143	GRCh38/hg38 7p22.1(chr7:5378314-5849934)x4	ACTB, FBXL18 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 146565	GRCh38/hg38 7p22.1(chr7:5448387-6276950)x1	ACTB, AIMP2 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 146321	GRCh38/hg38 7p22.1(chr7:5578185-5775451)x1	FSCN1, LOC110121162 +20 more	Copy number loss	See cases	GLikely pathogenic
Select item 1414189	NM_207111.4(RNF216):c.2759G>A (p.Arg920Gln)	RNF216 (R920Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 740477	NM_207111.4(RNF216):c.2757G>A (p.Pro919=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1408904	NM_207111.4(RNF216):c.2756C>T (p.Pro919Leu)	RNF216 (P862L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1563341	NM_207111.4(RNF216):c.2736C>G (p.Pro912=)	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 786895	NM_207111.4(RNF216):c.2730C>T (p.Asn910=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1595954	NM_207111.4(RNF216):c.2719C>G (p.Leu907Val)	RNF216 (L850V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 802289	NM_207111.4(RNF216):c.2686G>T (p.Val896Phe)	RNF216 (V839F +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 732371	NM_207111.4(RNF216):c.2686G>A (p.Val896Ile)	RNF216 (V839I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1481696	NM_207111.4(RNF216):c.2684G>A (p.Arg895Gln)	RNF216 (R838Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1475197	NM_207111.4(RNF216):c.2683C>T (p.Arg895Trp)	RNF216 (R838W +1 more)	Single nucleotide variant (missense variant)	not provided	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 2836118	NM_207111.4(RNF216):c.2673G>A (p.Leu891=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069695	NM_207111.4(RNF216):c.2667C>G (p.Pro889=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 800990	NM_207111.4(RNF216):c.2663T>A (p.Val888Glu)	RNF216 (V831E +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 1345630	NM_207111.4(RNF216):c.2662G>A (p.Val888Met)	RNF216 (V831M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 755972	NM_207111.4(RNF216):c.2661C>T (p.Tyr887=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735721	NM_207111.4(RNF216):c.2643G>A (p.Gly881=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747038	NM_207111.4(RNF216):c.2631A>G (p.Pro877=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 792804	NM_207111.4(RNF216):c.2614G>A (p.Val872Met)	RNF216 (V872M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 1598947	NM_207111.4(RNF216):c.2592C>T (p.Phe864=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3057613	NM_207111.4(RNF216):c.2580G>A (p.Ala860=)	RNF216	Single nucleotide variant (synonymous variant)	RNF216-related condition	GLikely benign
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 1506979	NM_207111.4(RNF216):c.2579C>G (p.Ala860Gly)	RNF216 (A803G +1 more)	Single nucleotide variant (missense variant)	not provided	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 1590662	NM_207111.4(RNF216):c.2545C>T (p.Leu849=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1328002	NM_207111.4(RNF216):c.2544C>T (p.Asn848=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788419	NM_207111.4(RNF216):c.2538G>A (p.Pro846=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1450357	NM_207111.4(RNF216):c.2533G>A (p.Val845Ile)	RNF216 (V845I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2148292	NM_207111.4(RNF216):c.2532C>T (p.Pro844=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 810066	NM_207111.4(RNF216):c.2525C>T (p.Pro842Leu)	RNF216 (P785L +1 more)	Single nucleotide variant (missense variant)	not provided	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 1968486	NM_207111.4(RNF216):c.2507A>T (p.Gln836Leu)	RNF216 (Q779L +1 more)	Single nucleotide variant (missense variant)	not provided	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 2081561	NM_207111.4(RNF216):c.2481G>A (p.Pro827=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 424631	NM_207111.4(RNF216):c.2468G>A (p.Arg823His)	RNF216 (R766H +1 more)	Single nucleotide variant (missense variant)	Rosette-forming glioneuronal tumor	GUncertain significance
Select item 1303223	NM_207111.4(RNF216):c.2467C>T (p.Arg823Cys)	RNF216 (R766C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801611	NM_207111.4(RNF216):c.2453-8C>T	RNF216	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1565734	NM_207111.4(RNF216):c.2453-9C>A	RNF216	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1653402	NM_207111.4(RNF216):c.2452+20C>A	RNF216	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2657290	NM_207111.4(RNF216):c.2400T>G (p.Leu800=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1668591	NM_207111.4(RNF216):c.2383-7G>A	RNF216	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 152011	GRCh38/hg38 7p22.1(chr7:5635439-5883795)x3	LOC110121162, LOC123924897 +15 more	Copy number gain	See cases	GLikely benign
Select item 2131954	NM_207111.4(RNF216):c.2379C>T (p.Pro793=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1696861	NM_207111.4(RNF216):c.2375A>C (p.Asp792Ala)	RNF216 (D735A +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 1397588	NM_207111.4(RNF216):c.2374G>A (p.Asp792Asn)	RNF216 (D792N +1 more)	Single nucleotide variant (missense variant)	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 2419863	NM_207111.4(RNF216):c.2316A>G (p.Gln772=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1904724	NM_207111.4(RNF216):c.2282G>A (p.Arg761Gln)	RNF216 (R761Q +1 more)	Single nucleotide variant (missense variant)	not provided	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 1562652	NM_207111.4(RNF216):c.2253C>T (p.Arg751=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1398969	NM_207111.4(RNF216):c.2252G>A (p.Arg751His)	RNF216 (R694H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 50912	NM_207111.4(RNF216):c.2251C>T (p.Arg751Cys)	RNF216 (R751C +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GPathogenic
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 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 1476579	NM_207111.4(RNF216):c.2182C>T (p.Arg728Cys)	RNF216 (R671C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1579584	NM_207111.4(RNF216):c.2160-7A>G	RNF216	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1343797	NM_207111.4(RNF216):c.2149C>T (p.Arg717Cys)	RNF216 (R660C +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GPathogenic
Select item 2984394	NM_207111.4(RNF216):c.2085A>T (p.Gly695=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1346051	NM_207111.4(RNF216):c.2084G>A (p.Gly695Glu)	RNF216 (G695E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1528595	NM_207111.4(RNF216):c.2076G>A (p.Lys692=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2100631	NM_207111.4(RNF216):c.2075A>C (p.Lys692Thr)	RNF216 (K635T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927742	NM_207111.4(RNF216):c.2067C>G (p.Thr689=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1643541	NM_207111.4(RNF216):c.2062-18T>C	RNF216	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	LOC129997985, LOC129997986 +560 more	Copy number gain	See cases	GPathogenic
Select item 2976055	NM_207111.4(RNF216):c.2061+8G>A	RNF216	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1027514	NM_207111.4(RNF216):c.2061+3A>G	RNF216	Single nucleotide variant (intron variant)	Cerebellar ataxia-hypogonadism syndrome	GLikely pathogenic
Select item 183356	NM_207111.4(RNF216):c.2061G>A (p.Lys687=)	RNF216	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GLikely pathogenic
Select item 1372228	NM_207111.4(RNF216):c.2057G>A (p.Arg686Gln)	RNF216 (R686Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 791586	NM_207111.4(RNF216):c.2055C>T (p.Cys685=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1578867	NM_207111.4(RNF216):c.2052C>T (p.His684=)	RNF216	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1347442	NM_207111.4(RNF216):c.2047C>T (p.Pro683Ser)	RNF216 (P683S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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