RRP1B[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 59033	GRCh38/hg38 21q22.3(chr21:43651490-43783031)x3	CSTB, HSF2BP +14 more	Copy number gain	See cases	GUncertain significance
Select item 2460952	NM_015056.3(RRP1B):c.86A>G (p.Lys29Arg)	LOC130066780, RRP1B (K29R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2215397	NM_015056.3(RRP1B):c.142C>G (p.Gln48Glu)	RRP1B (Q48E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791215	NM_015056.3(RRP1B):c.246C>T (p.Val82=)	RRP1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2652723	NM_015056.3(RRP1B):c.266C>T (p.Ala89Val)	RRP1B (A89V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3315471	NM_015056.3(RRP1B):c.314A>G (p.Glu105Gly)	RRP1B (E105G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156514	NM_015056.3(RRP1B):c.343G>A (p.Asp115Asn)	RRP1B (D115N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773092	NM_015056.3(RRP1B):c.358-8T>A	RRP1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2268304	NM_015056.3(RRP1B):c.400C>G (p.Arg134Gly)	RRP1B (R134G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 59034	GRCh38/hg38 21q22.3(chr21:43675516-43976023)x3	AATBC, AGPAT3 +30 more	Copy number gain	See cases	GUncertain significance
Select item 2310279	NM_015056.3(RRP1B):c.641G>A (p.Arg214Gln)	RRP1B (R214Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598487	NM_015056.3(RRP1B):c.692C>T (p.Thr231Met)	RRP1B (T231M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329125	NM_015056.3(RRP1B):c.748C>A (p.Pro250Thr)	RRP1B (P250T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365953	NM_015056.3(RRP1B):c.772A>G (p.Arg258Gly)	RRP1B (R258G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315475	NM_015056.3(RRP1B):c.785A>G (p.Lys262Arg)	RRP1B (K262R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519782	NM_015056.3(RRP1B):c.842G>A (p.Arg281Lys)	RRP1B (R281K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156516	NM_015056.3(RRP1B):c.968G>A (p.Arg323His)	RRP1B (R323H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209090	NM_015056.3(RRP1B):c.985A>C (p.Lys329Gln)	RRP1B (K329Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322182	NM_015056.3(RRP1B):c.997G>A (p.Asp333Asn)	RRP1B (D333N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319475	NM_015056.3(RRP1B):c.997G>T (p.Asp333Tyr)	RRP1B (D333Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315473	NM_015056.3(RRP1B):c.1015A>C (p.Ser339Arg)	RRP1B (S339R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221681	NM_015056.3(RRP1B):c.1065C>A (p.Asp355Glu)	RRP1B (D355E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315472	NM_015056.3(RRP1B):c.1160T>C (p.Val387Ala)	RRP1B (V387A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2352320	NM_015056.3(RRP1B):c.1216A>C (p.Lys406Gln)	RRP1B (K406Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156509	NM_015056.3(RRP1B):c.1241C>G (p.Pro414Arg)	RRP1B (P414R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156510	NM_015056.3(RRP1B):c.1306C>G (p.Leu436Val)	RRP1B (L436V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315474	NM_015056.3(RRP1B):c.1403T>C (p.Met468Thr)	RRP1B (M468T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2410063	NM_015056.3(RRP1B):c.1420C>T (p.Arg474Trp)	RRP1B (R474W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314984	NM_015056.3(RRP1B):c.1426C>T (p.Arg476Trp)	RRP1B (R476W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156512	NM_015056.3(RRP1B):c.1472T>C (p.Val491Ala)	RRP1B (V491A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2248732	NM_015056.3(RRP1B):c.1480C>G (p.Pro494Ala)	RRP1B (P494A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327146	NM_015056.3(RRP1B):c.1549G>A (p.Gly517Arg)	RRP1B (G517R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511135	NM_015056.3(RRP1B):c.1550G>A (p.Gly517Glu)	RRP1B (G517E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1176765	NM_015056.3(RRP1B):c.1557A>G (p.Gln519=)	RRP1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2388758	NM_015056.3(RRP1B):c.1573C>T (p.Arg525Trp)	RRP1B (R525W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315470	NM_015056.3(RRP1B):c.1616C>T (p.Thr539Met)	RRP1B (T539M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395391	NM_015056.3(RRP1B):c.1693C>A (p.Pro565Thr)	RRP1B (P565T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156513	NM_015056.3(RRP1B):c.1797G>C (p.Met599Ile)	LOC130066783, RRP1B (M599I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354875	NM_015056.3(RRP1B):c.1843G>A (p.Glu615Lys)	LOC130066783, RRP1B (E615K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773093	NM_015056.3(RRP1B):c.1892T>C (p.Leu631Pro)	RRP1B (L631P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2273080	NM_015056.3(RRP1B):c.1918A>G (p.Ser640Gly)	RRP1B (S640G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384727	NM_015056.3(RRP1B):c.1951C>G (p.Pro651Ala)	RRP1B (P651A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514558	NM_015056.3(RRP1B):c.1994C>T (p.Thr665Ile)	RRP1B (T665I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348012	NM_015056.3(RRP1B):c.2011G>T (p.Ala671Ser)	RRP1B (A671S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214312	NM_015056.3(RRP1B):c.2029A>G (p.Thr677Ala)	RRP1B (T677A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1176766	NM_015056.3(RRP1B):c.2123C>T (p.Thr708Met)	RRP1B (T708M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2206339	NM_015056.3(RRP1B):c.2146G>A (p.Asp716Asn)	RRP1B (D716N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2278747	NM_015056.3(RRP1B):c.2193C>G (p.Ser731Arg)	RRP1B (S731R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315469	NM_015056.3(RRP1B):c.2209C>A (p.Pro737Thr)	RRP1B (P737T)	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
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062427	GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1	DNMT3L, SLX9 +55 more	Copy number loss	not specified	GPathogenic

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