ClinVar for MedGen (Select 339584) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	not provided +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 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 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 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)	RNF213-related condition +2 more	GBenign
Select item 684683	NM_001256071.3(RNF213):c.6169G>A (p.Asp2057Asn)	RNF213 (D2057N)	Single nucleotide variant (missense variant)	not provided +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, RNF213-AS1 (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-AS1, RNF213 (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	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 disease 2 +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)	RNF213-related condition +1 more	GBenign/Likely benign
Select item 417839	NM_001256071.3(RNF213):c.3404C>T (p.Ala1135Val)	RNF213 (A1135V)	Single nucleotide variant (missense variant)	not provided +1 more	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	GLikely benign
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, RNF213-AS1 (V5163I)	Single nucleotide variant (missense variant)	RNF213-related condition	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)	not provided +1 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-AS1, RNF213 (K4115del)	Deletion (inframe_deletion)	Moyamoya angiopathy +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, RNF213-AS1 (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)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 70