RRP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 154583	GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	AATBC, ABCG1 +268 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +416 more	Copy number loss	See cases	GPathogenic
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	AATBC, ABCG1 +376 more	Copy number loss	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	See cases	GPathogenic
Select item 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066806, LOC130066807 +334 more	Copy number loss	See cases	GPathogenic
Select item 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	AATBC, ADARB1 +276 more	Copy number loss	See cases	GPathogenic
Select item 144193	GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1	AATBC, ADARB1 +268 more	Copy number loss	See cases	GPathogenic
Select item 545245	Single allele	KRTAP10-12, KRTAP10-2 +245 more	Duplication	Autism	GLikely pathogenic
Select item 155502	GRCh38/hg38 21q22.3(chr21:43427322-43837467)x1	AATBC, CSTB +31 more	Copy number loss	See cases	GLikely benign
Select item 59034	GRCh38/hg38 21q22.3(chr21:43675516-43976023)x3	AATBC, AGPAT3 +30 more	Copy number gain	See cases	GUncertain significance
Select item 2400972	NM_003683.6(RRP1):c.59A>G (p.Asn20Ser)	LOC130066790, RRP1 (N20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746239	NM_003683.6(RRP1):c.81G>A (p.Arg27=)	LOC130066790, RRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3315446	NM_003683.6(RRP1):c.119C>G (p.Thr40Ser)	RRP1 (T40S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359449	NM_003683.6(RRP1):c.161A>C (p.Lys54Thr)	RRP1 (K54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528421	NM_003683.6(RRP1):c.195G>A (p.Met65Ile)	RRP1 (M65I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721368	NM_003683.6(RRP1):c.275-10C>T	RRP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2467013	NM_003683.6(RRP1):c.291G>C (p.Gln97His)	RRP1 (Q97H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156475	NM_003683.6(RRP1):c.323C>T (p.Thr108Met)	RRP1 (T108M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 221321	NM_003683.6(RRP1):c.340C>T (p.Arg114Cys)	RRP1 (R114C)	Single nucleotide variant (missense variant)	Breast ductal adenocarcinoma	GUncertain significance
Select item 3315447	NM_003683.6(RRP1):c.350A>G (p.Lys117Arg)	RRP1 (K117R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538925	NM_003683.6(RRP1):c.358A>G (p.Met120Val)	RRP1 (M120V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731015	NM_003683.6(RRP1):c.543C>T (p.Gly181=)	RRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2605031	NM_003683.6(RRP1):c.551A>C (p.Glu184Ala)	RRP1 (E184A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359773	NM_003683.6(RRP1):c.580A>T (p.Ile194Phe)	RRP1 (I194F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389388	NM_003683.6(RRP1):c.598A>G (p.Ile200Val)	RRP1 (I200V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365078	NM_003683.6(RRP1):c.659C>T (p.Thr220Met)	RRP1 (T220M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376611	NM_003683.6(RRP1):c.673G>T (p.Ala225Ser)	RRP1 (A225S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364749	NM_003683.6(RRP1):c.760G>A (p.Gly254Ser)	RRP1 (G254S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315445	NM_003683.6(RRP1):c.767G>A (p.Arg256His)	RRP1 (R256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156476	NM_003683.6(RRP1):c.767G>C (p.Arg256Pro)	RRP1 (R256P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408478	NM_003683.6(RRP1):c.775G>A (p.Ala259Thr)	RRP1 (A259T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 782670	NM_003683.6(RRP1):c.803C>T (p.Pro268Leu)	RRP1 (P268L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3156477	NM_003683.6(RRP1):c.804G>A (p.Pro268=)	RRP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2255984	NM_003683.6(RRP1):c.815C>T (p.Ser272Phe)	RRP1 (S272F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727871	NM_003683.6(RRP1):c.816C>T (p.Ser272=)	RRP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2388335	NM_003683.6(RRP1):c.862G>A (p.Asp288Asn)	RRP1 (D288N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570327	NM_003683.6(RRP1):c.881C>G (p.Pro294Arg)	RRP1 (P294R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514170	NM_003683.6(RRP1):c.883G>A (p.Val295Ile)	RRP1 (V295I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458063	NM_003683.6(RRP1):c.937C>T (p.Arg313Cys)	RRP1 (R313C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405219	NM_003683.6(RRP1):c.985C>T (p.Arg329Trp)	RRP1 (R329W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599504	NM_003683.6(RRP1):c.1051C>T (p.Arg351Cys)	RRP1 (R351C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570346	NM_003683.6(RRP1):c.1069C>T (p.Arg357Trp)	RRP1 (R357W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267844	NM_003683.6(RRP1):c.1094A>G (p.Lys365Arg)	RRP1 (K365R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384941	NM_003683.6(RRP1):c.1097G>A (p.Arg366His)	RRP1 (R366H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315448	NM_003683.6(RRP1):c.1100T>G (p.Leu367Arg)	RRP1 (L367R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388159	NM_003683.6(RRP1):c.1109T>G (p.Leu370Trp)	RRP1 (L370W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782727	NM_003683.6(RRP1):c.1124-10G>C	RRP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2372487	NM_003683.6(RRP1):c.1126A>C (p.Lys376Gln)	RRP1 (K376Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276648	NM_003683.6(RRP1):c.1201G>A (p.Glu401Lys)	RRP1 (E401K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2488541	NM_003683.6(RRP1):c.1208G>A (p.Arg403Gln)	RRP1 (R403Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315449	NM_003683.6(RRP1):c.1235C>T (p.Thr412Ile)	RRP1 (T412I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557454	NM_003683.6(RRP1):c.1244G>A (p.Arg415Gln)	RRP1 (R415Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620303	NM_003683.6(RRP1):c.1263G>C (p.Gln421His)	RRP1 (Q421H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400971	NM_003683.6(RRP1):c.1274G>A (p.Arg425His)	RRP1 (R425H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547441	NM_003683.6(RRP1):c.1280A>G (p.Gln427Arg)	RRP1 (Q427R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3315450	NM_003683.6(RRP1):c.1292G>A (p.Arg431His)	RRP1 (R431H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528009	NM_003683.6(RRP1):c.1339G>T (p.Ala447Ser)	RRP1 (A447S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387522	NM_003683.6(RRP1):c.1340C>T (p.Ala447Val)	RRP1 (A447V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3315443	NM_003683.6(RRP1):c.1357C>G (p.Pro453Ala)	RRP1 (P453A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617022	NM_003683.6(RRP1):c.1358C>T (p.Pro453Leu)	RRP1 (P453L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248207	NC_000021.8:g.(?_44296792)_(47865240_?)del	ADARB1, AGPAT3 +60 more	Deletion	not provided	GPathogenic
Select item 3248150	NC_000021.8:g.(?_44473990)_(45629566_?)del	AGPAT3, CBS +11 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062430	GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1	KRTAP10-7, KRTAP10-8 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic

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