"UMR-S1161, Institut national de la santé et de la recherche médicale" - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 417835	NM_001256071.3(RNF213):c.352T>C (p.Cys118Arg)	RNF213 (C118R)	Single nucleotide variant (missense variant)	not provided	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 417837	NM_001256071.3(RNF213):c.626T>A (p.Ile209Asn)	RNF213 (I209N)	Single nucleotide variant (missense variant)	not provided	GLikely 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 417839	NM_001256071.3(RNF213):c.3404C>T (p.Ala1135Val)	RNF213 (A1135V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
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 417841	NM_001256071.3(RNF213):c.5162C>T (p.Pro1721Leu)	RNF213 (P1721L)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 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 417851	NM_001256071.3(RNF213):c.12185G>A (p.Arg4062Gln)	RNF213, RNF213-AS1 (R4062Q)	Single nucleotide variant (missense variant)	Moyamoya disease 1 +1 more	GConflicting classifications of pathogenicity
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 417853	NM_001256071.3(RNF213):c.13195G>A (p.Ala4399Thr)	RNF213, RNF213-AS1 (A4399T)	Single nucleotide variant (missense variant)	not provided	GBenign
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 417855	NM_001256071.3(RNF213):c.13918G>A (p.Gly4640Ser)	RNF213-AS1, RNF213 (G4640S)	Single nucleotide variant (missense variant)	Moyamoya disease 2	GUncertain significance

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Items: 23