RNPEPL1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	ACKR3, AGAP1 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	RAB17-DT, RAMP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	LOC132090688, LOC132090689 +325 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	HDAC4, HDAC4-AS1 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +314 more	Copy number loss	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	ACKR3, AGAP1 +311 more	Copy number gain	See cases	GPathogenic
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 more	Copy number loss	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
Select item 153183	GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 151026	GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1	LOC122889015, LOC122889016 +287 more	Copy number loss	See cases	GPathogenic
Select item 57420	GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1	ACKR3, AGXT +276 more	Copy number loss	See cases	GPathogenic
Select item 1684635	Single allele	LOC122889013, LOC122889014 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 150710	GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1	AGXT, ANKMY1 +274 more	Copy number loss	See cases	GPathogenic
Select item 146261	GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1	AGXT, ANKMY1 +271 more	Copy number loss	See cases	GPathogenic
Select item 146602	GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1	AGXT, ANKMY1 +270 more	Copy number loss	See cases	GPathogenic
Select item 147368	GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1	AGXT, ANKMY1 +264 more	Copy number loss	See cases	GPathogenic
Select item 58885	GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1	LOC129935970, LOC129935971 +251 more	Copy number loss	See cases	GPathogenic
Select item 57432	GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1	COPS9, CROCC2 +250 more	Copy number loss	See cases	GPathogenic
Select item 151032	GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1	AGXT, ANKMY1 +235 more	Copy number loss	See cases	GPathogenic
Select item 144177	GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3	AGXT, ANKMY1 +171 more	Copy number gain	See cases	GPathogenic
Select item 149058	GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1	AGXT, ANKMY1 +185 more	Copy number loss	See cases	GPathogenic
Select item 204217	NC_000002.12:g.(?_239048168)_(240879119_?)del	PRR21, RNPEPL1 +84 more	Deletion	Primary hyperoxaluria, type I	GPathogenic
Select item 153228	GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1	LOC129936021, LOC129936022 +144 more	Copy number loss	See cases	GPathogenic
Select item 155356	GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1	LOC110121227, LOC110599582 +143 more	Copy number loss	See cases	GLikely pathogenic
Select item 147508	GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1	AGXT, ANKMY1 +145 more	Copy number loss	See cases	GPathogenic
Select item 58910	GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1	FAM240C, FARP2 +143 more	Copy number loss	See cases	GPathogenic
Select item 146578	GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1	AGXT, ANKMY1 +138 more	Copy number loss	See cases	GPathogenic
Select item 149568	GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GLikely pathogenic
Select item 151964	GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GUncertain significance
Select item 58911	GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1	AGXT, ANKMY1 +131 more	Copy number loss	See cases	GPathogenic
Select item 146232	GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1	AGXT, ANKMY1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 2364617	NM_018226.6(RNPEPL1):c.65C>T (p.Pro22Leu)	RNPEPL1 (P22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344621	NM_018226.6(RNPEPL1):c.106G>T (p.Ala36Ser)	LOC129935981, RNPEPL1 (A36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155547	NM_018226.6(RNPEPL1):c.173C>T (p.Ala58Val)	LOC129935981, RNPEPL1 (A58V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314966	NM_018226.6(RNPEPL1):c.205C>T (p.Arg69Trp)	LOC129935981, RNPEPL1 (R69W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343854	NM_018226.6(RNPEPL1):c.209C>A (p.Pro70His)	LOC129935981, RNPEPL1 (P70H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155552	NM_018226.6(RNPEPL1):c.220G>C (p.Ala74Pro)	LOC129935981, RNPEPL1 (A74P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266339	NM_018226.6(RNPEPL1):c.269T>G (p.Phe90Cys)	LOC129935981, RNPEPL1 (F90C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515100	NM_018226.6(RNPEPL1):c.286G>A (p.Ala96Thr)	LOC129935981, RNPEPL1 (A96T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314969	NM_018226.6(RNPEPL1):c.293C>T (p.Ala98Val)	LOC129935981, RNPEPL1 (A98V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543125	NM_018226.6(RNPEPL1):c.320C>G (p.Ser107Cys)	RNPEPL1 (S107C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390520	NM_018226.6(RNPEPL1):c.320C>T (p.Ser107Phe)	RNPEPL1 (S107F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388205	NM_018226.6(RNPEPL1):c.322G>T (p.Ala108Ser)	RNPEPL1 (A108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378053	NM_018226.6(RNPEPL1):c.332C>A (p.Pro111Gln)	RNPEPL1 (P111Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155553	NM_018226.6(RNPEPL1):c.334G>C (p.Gly112Arg)	RNPEPL1 (G112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396986	NM_018226.6(RNPEPL1):c.335G>A (p.Gly112Glu)	RNPEPL1 (G112E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216960	NM_018226.6(RNPEPL1):c.337C>T (p.Pro113Ser)	RNPEPL1 (P113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155554	NM_018226.6(RNPEPL1):c.349C>T (p.Pro117Ser)	RNPEPL1 (P117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222107	NM_018226.6(RNPEPL1):c.367C>T (p.Pro123Ser)	RNPEPL1 (P123S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619884	NM_018226.6(RNPEPL1):c.385G>A (p.Glu129Lys)	RNPEPL1 (E129K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614886	NM_018226.6(RNPEPL1):c.406G>T (p.Ala136Ser)	RNPEPL1 (A136S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558390	NM_018226.6(RNPEPL1):c.484C>T (p.Pro162Ser)	RNPEPL1 (P162S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597160	NM_018226.6(RNPEPL1):c.485C>T (p.Pro162Leu)	RNPEPL1 (P162L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320106	NM_018226.6(RNPEPL1):c.514A>G (p.Thr172Ala)	RNPEPL1 (T172A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314967	NM_018226.6(RNPEPL1):c.577G>A (p.Val193Ile)	RNPEPL1 (V193I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264391	NM_018226.6(RNPEPL1):c.589G>A (p.Gly197Ser)	RNPEPL1 (G197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371162	NM_018226.6(RNPEPL1):c.677C>T (p.Ser226Leu)	RNPEPL1 (S226L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212574	NM_018226.6(RNPEPL1):c.706C>T (p.Arg236Trp)	RNPEPL1 (R236W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214619	NM_018226.6(RNPEPL1):c.707G>A (p.Arg236Gln)	RNPEPL1 (R236Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2652091	NM_018226.6(RNPEPL1):c.724G>A (p.Glu242Lys)	RNPEPL1 (E242K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 709658	NM_018226.6(RNPEPL1):c.789C>T (p.Ala263=)	RNPEPL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2386788	NM_018226.6(RNPEPL1):c.911G>A (p.Arg304Gln)	RNPEPL1 (R304Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266502	NM_018226.6(RNPEPL1):c.1013C>T (p.Ser338Phe)	RNPEPL1 (S338F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254093	NM_018226.6(RNPEPL1):c.1018A>G (p.Ile340Val)	RNPEPL1 (I340V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314968	NM_018226.6(RNPEPL1):c.1081G>A (p.Gly361Ser)	RNPEPL1 (G361S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778054	NM_018226.6(RNPEPL1):c.1377A>G (p.Pro459=)	RNPEPL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2385423	NM_018226.6(RNPEPL1):c.1382G>A (p.Arg461His)	RNPEPL1 (R461H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478972	NM_018226.6(RNPEPL1):c.1522G>A (p.Glu508Lys)	RNPEPL1 (E508K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514622	NM_018226.6(RNPEPL1):c.1742A>T (p.Glu581Val)	RNPEPL1 (E581V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222812	NM_018226.6(RNPEPL1):c.1832G>A (p.Arg611His)	RNPEPL1 (R611H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569933	NM_018226.6(RNPEPL1):c.1892G>A (p.Arg631His)	RNPEPL1 (R631H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477431	NM_018226.6(RNPEPL1):c.1900A>C (p.Thr634Pro)	RNPEPL1 (T634P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155548	NM_018226.6(RNPEPL1):c.1970C>T (p.Thr657Met)	RNPEPL1 (T657M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611654	NM_018226.6(RNPEPL1):c.1973A>G (p.Gln658Arg)	RNPEPL1 (Q658R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229603	NM_018226.6(RNPEPL1):c.1976G>A (p.Gly659Asp)	RNPEPL1 (G659D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155549	NM_018226.6(RNPEPL1):c.1979G>A (p.Arg660Gln)	RNPEPL1 (R660Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155551	NM_018226.6(RNPEPL1):c.2009A>G (p.Gln670Arg)	RNPEPL1 (Q670R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488540	NM_018226.6(RNPEPL1):c.2027G>A (p.Gly676Asp)	RNPEPL1 (G676D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253607	NM_018226.6(RNPEPL1):c.2064C>A (p.Ser688Arg)	RNPEPL1 (S688R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652092	NM_018226.6(RNPEPL1):c.2067G>A (p.Thr689=)	RNPEPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3247415	NC_000002.11:g.(?_237481970)_(242801596_?)del	ACKR3, AGXT +55 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3242308	GRCh37/hg19 2q37.2-37.3(chr2:236478472-243048854)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3148872	GRCh37/hg19 2q37.3(chr2:239671606-242782258)x1	AGXT, ANKMY1 +35 more	Copy number loss	See cases	GPathogenic
Select item 3148868	GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1	ACKR3, AGAP1 +60 more	Copy number loss	See cases	GPathogenic
Select item 3062615	GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic

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