RNF213-AS1[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	MIR636, MIR6516 +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	AATK, ACTG1 +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 151581	GRCh38/hg38 17q25.3(chr17:80328106-80955527)x1	ENDOV, LOC101928855 +31 more	Copy number loss	See cases	GUncertain significance
Select item 2171455	NM_001256071.3(RNF213):c.10336C>T (p.Arg3446Trp)	RNF213, RNF213-AS1 (R3446W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2884077	NM_001256071.3(RNF213):c.10403C>T (p.Ala3468Val)	RNF213, RNF213-AS1 (A3468V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2146527	NM_001256071.3(RNF213):c.10407C>T (p.Pro3469=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2715710	NM_001256071.3(RNF213):c.10423+9C>T	RNF213, RNF213-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1601085	NM_001256071.3(RNF213):c.10423+15G>A	RNF213, RNF213-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 732062	NM_001256071.3(RNF213):c.10424-8G>A	RNF213, RNF213-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 504154	NM_001256071.3(RNF213):c.10424-5T>A	RNF213, RNF213-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 808332	NM_001256071.3(RNF213):c.10438C>T (p.Arg3480Trp)	RNF213, RNF213-AS1 (R3480W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 723852	NM_001256071.3(RNF213):c.10442C>T (p.Ala3481Val)	RNF213, RNF213-AS1 (A3481V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
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 2864517	NM_001256071.3(RNF213):c.10450G>A (p.Gly3484Ser)	RNF213, RNF213-AS1 (G3533S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2636017	NM_001256071.3(RNF213):c.10463C>T (p.Ala3488Val)	RNF213, RNF213-AS1 (A3488V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	RNF213-related disorder	GUncertain significance
Select item 2746040	NM_001256071.3(RNF213):c.10464G>A (p.Ala3488=)	RNF213, RNF213-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1598973	NM_001256071.3(RNF213):c.10470G>A (p.Glu3490=)	RNF213, RNF213-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 726381	NM_001256071.3(RNF213):c.10487C>T (p.Ser3496Leu)	RNF213, RNF213-AS1 (S3496L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2899384	NM_001256071.3(RNF213):c.10496TGGCAGAGG[1] (p.3499VAE[1])	RNF213, RNF213-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 733381	NM_001256071.3(RNF213):c.10567G>A (p.Gly3523Arg)	RNF213, RNF213-AS1 (G3523R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 732541	NM_001256071.3(RNF213):c.10578+9T>C	RNF213, RNF213-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2987024	NM_001256071.3(RNF213):c.10591G>A (p.Asp3531Asn)	RNF213, RNF213-AS1 (D3580N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 710512	NM_001256071.3(RNF213):c.10636A>G (p.Met3546Val)	RNF213, RNF213-AS1 (M3546V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1663612	NM_001256071.3(RNF213):c.10665G>A (p.Thr3555=)	RNF213, RNF213-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2902873	NM_001256071.3(RNF213):c.10676G>A (p.Arg3559Gln)	RNF213, RNF213-AS1 (R3608Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 721382	NM_001256071.3(RNF213):c.10716C>T (p.Asp3572=)	RNF213, RNF213-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 758811	NM_001256071.3(RNF213):c.10725C>T (p.His3575=)	RNF213, RNF213-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 2718211	NM_001256071.3(RNF213):c.10726+18_10726+19del	RNF213, RNF213-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely 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 1315698	NM_001256071.3(RNF213):c.10754G>A (p.Arg3585His)	RNF213, RNF213-AS1 (R3585H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1416878	NM_001256071.3(RNF213):c.10759A>G (p.Ser3587Gly)	RNF213, RNF213-AS1 (S3587G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1708286	NM_001256071.3(RNF213):c.10822G>T (p.Ala3608Ser)	RNF213, RNF213-AS1 (A3608S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	See cases	GUncertain significance
Select item 2714928	NM_001256071.3(RNF213):c.10836C>T (p.Asp3612=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2888489	NM_001256071.3(RNF213):c.10851G>A (p.Ala3617=)	RNF213, RNF213-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1678390	NM_001256071.3(RNF213):c.10875G>A (p.Trp3625Ter)	RNF213, RNF213-AS1 (W3625*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1461568	NM_001256071.3(RNF213):c.10879C>T (p.Arg3627Trp)	RNF213-AS1, RNF213 (R3627W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166734	NM_001256071.3(RNF213):c.10997T>C (p.Met3666Thr)	RNF213, RNF213-AS1 (M3666T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 730440	NM_001256071.3(RNF213):c.11049T>C (p.Asn3683=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977772	NM_001256071.3(RNF213):c.11054+12G>T	RNF213, RNF213-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 728983	NM_001256071.3(RNF213):c.11055-5dup	RNF213, RNF213-AS1	Duplication (intron variant)	not provided	GBenign
Select item 2038818	NM_001256071.3(RNF213):c.11066A>T (p.Glu3689Val)	RNF213, RNF213-AS1 (E3689V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038820	NM_001256071.3(RNF213):c.11074T>C (p.Tyr3692His)	RNF213, RNF213-AS1 (Y3741H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 760305	NM_001256071.3(RNF213):c.11079C>T (p.Ile3693=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075994	NM_001256071.3(RNF213):c.11096T>C (p.Met3699Thr)	RNF213, RNF213-AS1 (M3699T +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 720542	NM_001256071.3(RNF213):c.11124C>T (p.Asn3708=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 758798	NM_001256071.3(RNF213):c.11133C>T (p.Phe3711=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720543	NM_001256071.3(RNF213):c.11192A>G (p.Asp3731Gly)	RNF213, RNF213-AS1 (D3731G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2648424	NM_001256071.3(RNF213):c.11193C>T (p.Asp3731=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	RNF213-related disorder +1 more	GBenign/Likely benign
Select item 712856	NM_001256071.3(RNF213):c.11201-6C>A	RNF213-AS1, RNF213	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1629047	NM_001256071.3(RNF213):c.11277G>A (p.Pro3759=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3030730	NM_001256071.3(RNF213):c.11340G>A (p.Thr3780=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	RNF213-related disorder	GLikely benign
Select item 2863291	NM_001256071.3(RNF213):c.11386A>G (p.Arg3796Gly)	RNF213, RNF213-AS1 (R3845G +1 more)	Single nucleotide variant (missense variant)	not provided	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 3032506	NM_001256071.3(RNF213):c.11482T>A (p.Phe3828Ile)	RNF213, RNF213-AS1 (F3828I +1 more)	Single nucleotide variant (missense variant)	RNF213-related disorder	GUncertain significance
Select item 1599445	NM_001256071.3(RNF213):c.11512G>C (p.Val3838Leu)	RNF213, RNF213-AS1 (V3838L)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1318593	NM_001256071.3(RNF213):c.11540G>A (p.Trp3847Ter)	RNF213, RNF213-AS1 (W3847*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3022626	NM_001256071.3(RNF213):c.11568+15C>T	RNF213, RNF213-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2898802	NM_001256071.3(RNF213):c.11571C>T (p.Thr3857=)	RNF213-AS1, RNF213	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712857	NM_001256071.3(RNF213):c.11589A>G (p.Ala3863=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 731335	NM_001256071.3(RNF213):c.11625G>C (p.Leu3875=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 725173	NM_001256071.3(RNF213):c.11637C>T (p.Pro3879=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 523426	NM_001256071.3(RNF213):c.11659A>G (p.Lys3887Glu)	RNF213, RNF213-AS1 (K3887E)	Single nucleotide variant (missense variant)	Patent foramen ovale +6 more	GUncertain significance
Select item 2571797	NM_001256071.3(RNF213):c.11695G>A (p.Asp3899Asn)	RNF213, RNF213-AS1 (D3899N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 788132	NM_001256071.3(RNF213):c.11700G>A (p.Glu3900=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 743455	NM_001256071.3(RNF213):c.11715C>T (p.Ser3905=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1220572	NM_001256071.3(RNF213):c.11744A>G (p.Glu3915Gly)	RNF213, RNF213-AS1 (E3915G)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 2893869	NM_001256071.3(RNF213):c.11778C>T (p.Thr3926=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
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 735864	NM_001256071.3(RNF213):c.11802C>T (p.Leu3934=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727738	NM_001256071.3(RNF213):c.11811C>T (p.Thr3937=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	RNF213-related disorder +1 more	GBenign/Likely benign
Select item 721513	NM_001256071.3(RNF213):c.11820C>T (p.Arg3940=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718801	NM_001256071.3(RNF213):c.11821G>A (p.Val3941Ile)	RNF213, RNF213-AS1 (V3941I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786434	NM_001256071.3(RNF213):c.11823C>T (p.Val3941=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729348	NM_001256071.3(RNF213):c.11826C>T (p.Pro3942=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 789233	NM_001256071.3(RNF213):c.11847C>T (p.Thr3949=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1050762	NM_001256071.3(RNF213):c.11848G>C (p.Glu3950Gln)	RNF213, RNF213-AS1 (E3950Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 733293	NM_001256071.3(RNF213):c.11853C>T (p.His3951=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 759263	NM_001256071.3(RNF213):c.11856C>A (p.Val3952=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732546	NM_001256071.3(RNF213):c.11892C>T (p.Asp3964=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916659	NM_001256071.3(RNF213):c.11893G>A (p.Val3965Met)	RNF213, RNF213-AS1 (V3965M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648425	NM_001256071.3(RNF213):c.11901G>A (p.Thr3967=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1443403	NM_001256071.3(RNF213):c.11920G>A (p.Val3974Met)	RNF213, RNF213-AS1 (V3974M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 720707	NM_001256071.3(RNF213):c.11972+8C>T	RNF213, RNF213-AS1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2724597	NM_001256071.3(RNF213):c.11973-5T>G	RNF213, RNF213-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1184843	NM_001256071.3(RNF213):c.11986_11989delinsGGGTTAG (p.Pro3996_Cys3997delinsGlyLeuGly)	RNF213, RNF213-AS1	Indel (inframe_indel)	not provided	GPathogenic
Select item 2497900	NM_001256071.3(RNF213):c.11987C>T (p.Pro3996Leu)	RNF213, RNF213-AS1 (P3996L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1549558	NM_001256071.3(RNF213):c.11988G>A (p.Pro3996=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	RNF213-related disorder +1 more	GBenign
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 1677329	NM_001256071.3(RNF213):c.11995A>C (p.Ile3999Leu)	RNF213, RNF213-AS1 (I3999L)	Single nucleotide variant (missense variant)	not provided	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 1685066	NM_001256071.3(RNF213):c.12022G>T (p.Val4008Phe)	RNF213, RNF213-AS1 (V4008F)	Single nucleotide variant (missense variant)	not specified	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 2832568	NM_001256071.3(RNF213):c.12023T>G (p.Val4008Gly)	RNF213, RNF213-AS1 (V4008G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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