ClinVar for MedGen (Select 339584) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377258	NM_001256071.3(RNF213):c.8905G>T (p.Ala2969Ser)	RNF213 (A2969S +1 more)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 3341329	NM_001256071.3(RNF213):c.15287A>G (p.Glu5096Gly)	RNF213, RNF213-AS1 (E5096G +1 more)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 3340508	NM_001256071.3(RNF213):c.12020C>A (p.Pro4007His)	RNF213, RNF213-AS1 (P4007H +1 more)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 3250455	NM_001256071.3(RNF213):c.11759G>C (p.Trp3920Ser)	RNF213, RNF213-AS1 (W3920S +1 more)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 3250430	NM_001256071.3(RNF213):c.8398A>C (p.Lys2800Gln)	RNF213 (K2800Q +1 more)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 3242140	NM_001256071.3(RNF213):c.1271+7G>A	RNF213	Single nucleotide variant (intron variant)	Moyamoya disease 2	GUncertain significance
Select item 3242122	NM_001256071.3(RNF213):c.65G>A (p.Gly22Glu)	RNF213 (G22E)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 3065263	NM_001256071.3(RNF213):c.11465G>C (p.Arg3822Thr)	RNF213, RNF213-AS1 (R3822T +1 more)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 3065130	NM_001256071.3(RNF213):c.13641-2A>G	RNF213, RNF213-AS1	Single nucleotide variant (splice acceptor variant)	Moyamoya disease 2	GLikely pathogenic
Select item 2585254	NM_001256071.3(RNF213):c.2812-3C>G	RNF213	Single nucleotide variant (intron variant)	Moyamoya disease 2	GUncertain significance
Select item 2581002	NM_001256071.3(RNF213):c.9844_9846del (p.Trp3282del)	RNF213 (W3282del +1 more)	Deletion (inframe_deletion)	Moyamoya disease 2	GLikely benign
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 2500077	NM_001256071.3(RNF213):c.15290C>T (p.Pro5097Leu)	RNF213, RNF213-AS1 (P5097L +1 more)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 2444199	NM_001256071.3(RNF213):c.11999G>A (p.Cys4000Tyr)	RNF213, RNF213-AS1 (C4000Y +1 more)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 2430341	NM_001256071.3(RNF213):c.12050G>A (p.Cys4017Tyr)	RNF213, RNF213-AS1 (C4017Y +1 more)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GLikely pathogenic
Select item 2430340	NM_001114753.3(ENG):c.1928G>A (p.Ser643Asn)	ENG (S461N +1 more)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 1710243	NM_001256071.3(RNF213):c.14822T>A (p.Val4941Glu)	RNF213, RNF213-AS1 (V4941E +1 more)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GLikely pathogenic
Select item 1696609	NM_001256071.3(RNF213):c.14729T>C (p.Val4910Ala)	RNF213, RNF213-AS1 (V4910A)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 1696608	NM_001256071.3(RNF213):c.13062G>C (p.Lys4354Asn)	RNF213, RNF213-AS1 (K4354N)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 1686128	NM_001256071.3(RNF213):c.12391C>T (p.Arg4131Cys)	RNF213, RNF213-AS1 (R4131C)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GPathogenic
Select item 1686127	NM_001256071.3(RNF213):c.4865C>T (p.Ala1622Val)	RNF213 (A1622V)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
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 1675121	NM_001256071.3(RNF213):c.12022G>A (p.Val4008Ile)	RNF213, RNF213-AS1 (V4008I)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 1342620	NC_000017.11:g.80392616_80422726del	ENDOV, LOC130061908 +3 more	Deletion	Moyamoya disease 2	GUncertain significance
Select item 1342610	NM_001256071.3(RNF213):c.10063G>A (p.Glu3355Lys)	RNF213 (E3355K)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 1325497	NM_001256071.3(RNF213):c.2743C>T (p.Arg915Ter)	RNF213 (R915*)	Single nucleotide variant (nonsense)	Moyamoya disease 2	Grisk factor
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 1033794	NM_001256071.3(RNF213):c.13997C>T (p.Thr4666Ile)	RNF213, RNF213-AS1 (T4666I)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 870408	NM_001256071.3(RNF213):c.12353C>T (p.Ser4118Phe)	RNF213, RNF213-AS1 (S4118F)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GPathogenic
Select item 811424	NM_001256071.3(RNF213):c.13747C>T (p.Arg4583Trp)	RNF213, RNF213-AS1 (R4583W)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 803469	NM_001256071.3(RNF213):c.12942+97del	RNF213, RNF213-AS1	Deletion (intron variant)	Moyamoya disease 2	GBenign
Select item 781335	NM_001256071.3(RNF213):c.13590G>A (p.Ala4530=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 777225	NM_001256071.3(RNF213):c.10443G>A (p.Ala3481=)	RNF213, RNF213-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Moyamoya disease 2 +1 more	GBenign/Likely benign
Select item 775391	NM_001256071.3(RNF213):c.10727-4A>G	RNF213, RNF213-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 771502	NM_001256071.3(RNF213):c.13782G>A (p.Ala4594=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	Moyamoya disease 2 +1 more	GBenign/Likely benign
Select item 738398	NM_001256071.3(RNF213):c.8833C>T (p.Arg2945Cys)	RNF213 (R2945C)	Single nucleotide variant (missense variant)	Moyamoya disease 2 +1 more	GLikely benign
Select item 722972	NM_001256071.3(RNF213):c.1110A>G (p.Ala370=)	RNF213	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 720891	NM_001256071.3(RNF213):c.305C>G (p.Ser102Cys)	RNF213 (S102C)	Single nucleotide variant (missense variant)	Moyamoya disease 2 +1 more	GLikely benign
Select item 717963	NM_001256071.3(RNF213):c.12648G>A (p.Glu4216=)	LOC126862663, RNF213 +1 more	Single nucleotide variant (synonymous variant)	Moyamoya disease 2 +1 more	GBenign/Likely benign
Select item 708562	NM_001256071.3(RNF213):c.14194A>G (p.Lys4732Glu)	RNF213, RNF213-AS1 (K4732E)	Single nucleotide variant (missense variant)	Moyamoya disease 2 +1 more	GBenign
Select item 684683	NM_001256071.3(RNF213):c.6169G>A (p.Asp2057Asn)	RNF213 (D2057N)	Single nucleotide variant (missense variant)	Moyamoya disease 2 +1 more	GConflicting classifications of pathogenicity
Select item 637049	NM_001256071.3(RNF213):c.12059G>T (p.Cys4020Phe)	RNF213, RNF213-AS1 (C4020F)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GLikely pathogenic
Select item 627493	NM_001256071.3(RNF213):c.2875G>T (p.Gly959Ter)	RNF213 (G959*)	Single nucleotide variant (nonsense)	Moyamoya disease 2 +1 more	GConflicting classifications of pathogenicity
Select item 585199	NM_001256071.3(RNF213):c.12562G>A (p.Ala4188Thr)	LOC126862663, RNF213 +1 more (A4188T)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 585198	NM_001256071.3(RNF213):c.12553A>G (p.Lys4185Glu)	LOC126862663, RNF213 +1 more (K4185E)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GLikely pathogenic
Select item 417855	NM_001256071.3(RNF213):c.13918G>A (p.Gly4640Ser)	RNF213-AS1, RNF213 (G4640S)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 417854	NM_001256071.3(RNF213):c.13822C>T (p.Pro4608Ser)	RNF213, RNF213-AS1 (P4608S)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 417853	NM_001256071.3(RNF213):c.13195G>A (p.Ala4399Thr)	RNF213, RNF213-AS1 (A4399T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 417852	NM_001256071.3(RNF213):c.12365A>T (p.Asp4122Val)	RNF213, RNF213-AS1 (D4122V)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 417851	NM_001256071.3(RNF213):c.12185G>A (p.Arg4062Gln)	RNF213, RNF213-AS1 (R4062Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 417850	NM_001256071.3(RNF213):c.12152A>C (p.His4051Pro)	RNF213-AS1, RNF213 (H4051P)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 417849	NM_001256071.3(RNF213):c.12124G>A (p.Glu4042Lys)	RNF213, RNF213-AS1 (E4042K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 417848	NM_001256071.3(RNF213):c.12098C>T (p.Pro4033Leu)	RNF213, RNF213-AS1 (P4033L)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 417847	NM_001256071.3(RNF213):c.12094T>C (p.Cys4032Arg)	RNF213, RNF213-AS1 (C4032R)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 417846	NM_001256071.3(RNF213):c.12040C>A (p.His4014Asn)	RNF213, RNF213-AS1 (H4014N)	Single nucleotide variant (missense variant)	Moyamoya angiopathy +1 more	GLikely pathogenic
Select item 417845	NM_001256071.3(RNF213):c.11797G>A (p.Val3933Met)	RNF213, RNF213-AS1 (V3933M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 417844	NM_001256071.3(RNF213):c.11779G>A (p.Ala3927Thr)	RNF213, RNF213-AS1 (A3927T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 417843	NM_001256071.3(RNF213):c.11537G>A (p.Arg3846His)	RNF213, RNF213-AS1 (R3846H)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 417842	NM_001256071.3(RNF213):c.5530G>A (p.Ala1844Thr)	RNF213 (A1844T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 417841	NM_001256071.3(RNF213):c.5162C>T (p.Pro1721Leu)	RNF213 (P1721L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 417840	NM_001256071.3(RNF213):c.5114C>A (p.Thr1705Lys)	RNF213 (T1705K)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 417839	NM_001256071.3(RNF213):c.3404C>T (p.Ala1135Val)	RNF213 (A1135V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
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 417837	NM_001256071.3(RNF213):c.626T>A (p.Ile209Asn)	RNF213 (I209N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 417835	NM_001256071.3(RNF213):c.352T>C (p.Cys118Arg)	RNF213 (C118R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 210008	NM_001256071.3(RNF213):c.12226A>G (p.Ile4076Val)	RNF213, RNF213-AS1 (I4076V)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 210007	NM_001256071.3(RNF213):c.12055C>T (p.Arg4019Cys)	RNF213, RNF213-AS1 (R4019C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 210006	NM_001256071.3(RNF213):c.11990G>A (p.Cys3997Tyr)	RNF213-AS1, RNF213 (C3997Y)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 210005	NM_001256071.3(RNF213):c.15487G>A (p.Val5163Ile)	RNF213-AS1, RNF213 (V5163I)	Single nucleotide variant (missense variant)	RNF213-related disorder	GUncertain significance
Select item 210004	NM_001256071.3(RNF213):c.14850_14851insGGCAAACAGAGCGTGCAGCAG (p.Glu4950_Phe4951insGlyLysGlnSerValGlnGln)	RNF213, RNF213-AS1	Insertion (inframe_insertion)	Moyamoya disease 2	GUncertain significance
Select item 210003	NM_001256071.3(RNF213):c.14195A>C (p.Lys4732Thr)	RNF213, RNF213-AS1 (K4732T)	Single nucleotide variant (missense variant)	Moyamoya disease 2 +2 more	GConflicting classifications of pathogenicity
Select item 210002	NM_001256071.3(RNF213):c.12711C>G (p.Asp4237Glu)	RNF213-AS1, LOC126862663 +1 more (D4237E)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance
Select item 210001	NM_001256071.3(RNF213):c.12343_12345del (p.Lys4115del)	RNF213, RNF213-AS1 (K4115del)	Deletion (inframe_deletion)	Moyamoya disease 2 +1 more	GLikely pathogenic
Select item 210000	NM_001256071.3(RNF213):c.11765G>A (p.Arg3922Gln)	RNF213-AS1, RNF213 (R3922Q)	Single nucleotide variant (missense variant)	Moyamoya disease 2	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 39701	NM_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn)	RNF213-AS1, RNF213 (D4013N)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GPathogenic
Select item 39700	NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys)	RNF213, RNF213-AS1 (R4810K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity

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Items: 78