RNF213[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	LOC126862671, LOC126862672 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 2857969	NM_001256071.3(RNF213):c.14C>T (p.Ser5Leu)	RNF213 (S5L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2176326	NM_001256071.3(RNF213):c.15G>A (p.Ser5=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014976	NM_001256071.3(RNF213):c.63C>T (p.Cys21=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916802	NM_001256071.3(RNF213):c.75G>T (p.Leu25=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956811	NM_001256071.3(RNF213):c.98-20T>G	RNF213	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 786953	NM_001256071.3(RNF213):c.103G>A (p.Glu35Lys)	RNF213 (E35K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1804036	NM_001256071.3(RNF213):c.114C>G (p.Asn38Lys)	RNF213 (N38K)	Single nucleotide variant (missense variant)	Seizure +4 more	GLikely pathogenic
Select item 2162085	NM_001256071.3(RNF213):c.125C>T (p.Ala42Val)	RNF213 (A42V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 731468	NM_001256071.3(RNF213):c.126G>A (p.Ala42=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718883	NM_001256071.3(RNF213):c.145A>G (p.Met49Val)	RNF213 (M49V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 721038	NM_001256071.3(RNF213):c.182C>T (p.Pro61Leu)	RNF213 (P61L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3052151	NM_001256071.3(RNF213):c.183G>A (p.Pro61=)	RNF213	Single nucleotide variant (synonymous variant)	RNF213-related condition	GLikely benign
Select item 1488856	NM_001256071.3(RNF213):c.194C>T (p.Pro65Leu)	RNF213 (P65L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1598585	NM_001256071.3(RNF213):c.222C>T (p.Pro74=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2648402	NM_001256071.3(RNF213):c.261+5483G>T	RNF213 (V129L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1613400	NM_001256071.3(RNF213):c.262-20G>A	RNF213	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2993358	NM_001256071.3(RNF213):c.278G>A (p.Arg93Lys)	RNF213 (R142K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 720891	NM_001256071.3(RNF213):c.305C>G (p.Ser102Cys)	RNF213 (S102C)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 773754	NM_001256071.3(RNF213):c.306C>T (p.Ser102=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 417835	NM_001256071.3(RNF213):c.352T>C (p.Cys118Arg)	RNF213 (C118R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1262197	NM_001256071.3(RNF213):c.378G>A (p.Pro126=)	RNF213	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 417836	NM_001256071.3(RNF213):c.397C>A (p.Leu133Met)	RNF213 (L133M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1320732	NM_001256071.3(RNF213):c.440C>T (p.Pro147Leu)	RNF213 (P147L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648403	NM_001256071.3(RNF213):c.447G>A (p.Gln149=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1244935	NM_001256071.3(RNF213):c.453A>G (p.Pro151=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2580595	NM_001256071.3(RNF213):c.467C>T (p.Thr156Met)	RNF213 (T156M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 719111	NM_001256071.3(RNF213):c.483C>T (p.Asp161=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 723850	NM_001256071.3(RNF213):c.490T>C (p.Ser164Pro)	RNF213 (S164P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768919	NM_001256071.3(RNF213):c.502G>A (p.Glu168Lys)	RNF213 (E168K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 721882	NM_001256071.3(RNF213):c.517C>A (p.Pro173Thr)	RNF213 (P173T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 730273	NM_001256071.3(RNF213):c.576C>T (p.Ser192=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 789099	NM_001256071.3(RNF213):c.609G>C (p.Glu203Asp)	RNF213 (E203D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2695247	NM_001256071.3(RNF213):c.613C>T (p.Gln205Ter)	RNF213 (Q205* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 417837	NM_001256071.3(RNF213):c.626T>A (p.Ile209Asn)	RNF213 (I209N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2989976	NM_001256071.3(RNF213):c.631_632delinsGT (p.Ser211Val)	RNF213 (S260V +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2724549	NM_001256071.3(RNF213):c.640A>C (p.Arg214=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3010231	NM_001256071.3(RNF213):c.644G>T (p.Gly215Val)	RNF213 (G215V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2648404	NM_001256071.3(RNF213):c.681T>C (p.Ala227=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648405	NM_001256071.3(RNF213):c.715C>G (p.Gln239Glu)	RNF213 (Q239E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2700121	NM_001256071.3(RNF213):c.716A>T (p.Gln239Leu)	RNF213 (Q239L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178198	NM_001256071.3(RNF213):c.757C>T (p.Pro253Ser)	RNF213 (P302S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1601109	NM_001256071.3(RNF213):c.809T>C (p.Met270Thr)	RNF213 (M270T)	Single nucleotide variant (missense variant)	RNF213-related condition +1 more	GBenign
Select item 2961735	NM_001256071.3(RNF213):c.817G>A (p.Asp273Asn)	RNF213 (D273N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648406	NM_001256071.3(RNF213):c.917T>C (p.Phe306Ser)	RNF213 (F306S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3043071	NM_001256071.3(RNF213):c.957C>T (p.Asp319=)	RNF213	Single nucleotide variant (synonymous variant)	RNF213-related condition	GLikely benign
Select item 2691336	NM_001256071.3(RNF213):c.962_963inv (p.Met321Thr)	RNF213 (M321T +1 more)	Inversion (missense variant)	not specified	GUncertain significance
Select item 1559878	NM_001256071.3(RNF213):c.962T>C (p.Met321Thr)	RNF213 (M321T)	Single nucleotide variant (missense variant)	RNF213-related condition +1 more	GBenign
Select item 727638	NM_001256071.3(RNF213):c.971C>G (p.Ala324Gly)	RNF213 (A324G)	Single nucleotide variant (missense variant)	RNF213-related condition +1 more	GBenign
Select item 2637714	NM_001256071.3(RNF213):c.985G>A (p.Gly329Ser)	RNF213 (G329S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1559897	NM_001256071.3(RNF213):c.990G>A (p.Lys330=)	RNF213	Single nucleotide variant (synonymous variant)	RNF213-related condition +1 more	GBenign
Select item 1683555	NM_001256071.3(RNF213):c.1015C>T (p.Leu339Phe)	RNF213 (L339F)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 1600355	NM_001256071.3(RNF213):c.1019A>G (p.Lys340Arg)	RNF213 (K340R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2760912	NM_001256071.3(RNF213):c.1102G>A (p.Val368Met)	RNF213 (V368M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 722972	NM_001256071.3(RNF213):c.1110A>G (p.Ala370=)	RNF213	Single nucleotide variant (synonymous variant)	Moyamoya disease 2 +1 more	GBenign/Likely benign
Select item 931874	NM_001256071.3(RNF213):c.1112+6G>A	RNF213	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 727188	NM_001256071.3(RNF213):c.1113-6C>T	RNF213	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2043729	NM_001256071.3(RNF213):c.1116G>T (p.Thr372=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 728179	NM_001256071.3(RNF213):c.1124C>T (p.Pro375Leu)	RNF213 (P375L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3068955	NM_001256071.3(RNF213):c.1149C>G (p.Phe383Leu)	RNF213 (F383L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2662471	NM_001256071.3(RNF213):c.1166_1167del (p.Leu389fs)	RNF213 (L389fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 377204	NM_001256071.3(RNF213):c.1180A>G (p.Asn394Asp)	RNF213 (N394D)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1968899	NM_001256071.3(RNF213):c.1181A>G (p.Asn394Ser)	RNF213 (N394S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 417838	NM_001256071.3(RNF213):c.1184C>T (p.Pro395Leu)	RNF213 (P395L)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 2648407	NM_001256071.3(RNF213):c.1200C>G (p.Val400=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717067	NM_001256071.3(RNF213):c.1208GAG[2] (p.Gly405del)	RNF213 (G405del)	Microsatellite (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 1605173	NM_001256071.3(RNF213):c.1271+19T>G	RNF213	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2648408	NM_001256071.3(RNF213):c.1302A>G (p.Glu434=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734857	NM_001256071.3(RNF213):c.1359C>T (p.Val453=)	RNF213	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 714864	NM_001256071.3(RNF213):c.1407G>T (p.Gln469His)	RNF213 (Q469H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1318827	NM_001256071.3(RNF213):c.1432C>T (p.Arg478Cys)	RNF213 (R478C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 736595	NM_001256071.3(RNF213):c.1440G>A (p.Leu480=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723139	NM_001256071.3(RNF213):c.1471+8G>A	RNF213	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 736334	NM_001256071.3(RNF213):c.1482G>A (p.Gln494=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854245	NM_001256071.3(RNF213):c.1492A>G (p.Ile498Val)	RNF213 (I547V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2715861	NM_001256071.3(RNF213):c.1508C>T (p.Pro503Leu)	RNF213 (P552L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 209999	NM_001256071.3(RNF213):c.1587_1589del (p.Ala531del)	RNF213 (A531del)	Deletion (inframe_deletion)	Moyamoya disease 2	GUncertain significance
Select item 1904206	NM_001256071.3(RNF213):c.1587C>T (p.Ala529=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 779979	NM_001256071.3(RNF213):c.1593G>A (p.Ala531=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1037440	NM_001256071.3(RNF213):c.1617C>A (p.Ser539Arg)	RNF213 (S539R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648409	NM_001256071.3(RNF213):c.1641C>T (p.Ile547=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748218	NM_001256071.3(RNF213):c.1668C>T (p.Phe556=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2500257	NM_001256071.3(RNF213):c.1699A>G (p.Met567Val)	RNF213 (M567V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1316632	NM_001256071.3(RNF213):c.1736T>C (p.Leu579Ser)	RNF213 (L579S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326208	NM_001256071.3(RNF213):c.1756-11C>A	RNF213	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 722973	NM_001256071.3(RNF213):c.1761G>A (p.Lys587=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1501276	NM_001256071.3(RNF213):c.1789C>A (p.His597Asn)	RNF213 (H597N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 710511	NM_001256071.3(RNF213):c.1815A>T (p.Lys605Asn)	RNF213 (K605N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3068957	NM_001256071.3(RNF213):c.1820C>T (p.Thr607Met)	RNF213 (T607M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1033795	NM_001256071.3(RNF213):c.1837G>T (p.Asp613Tyr)	RNF213 (D613Y)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 2190760	NM_001256071.3(RNF213):c.1845A>G (p.Pro615=)	RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720408	NM_001256071.3(RNF213):c.2063C>T (p.Thr688Met)	RNF213 (T688M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 733893	NM_001256071.3(RNF213):c.2116C>T (p.Pro706Ser)	RNF213 (P706S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2897282	NM_001256071.3(RNF213):c.2119C>T (p.Arg707Trp)	RNF213 (R756W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1538598	NM_001256071.3(RNF213):c.2122C>G (p.His708Asp)	RNF213 (H708D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1239837	NM_001256071.3(RNF213):c.2186C>T (p.Pro729Leu)	RNF213 (P729L)	Single nucleotide variant (missense variant)	not provided	GBenign

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