Related gene-specific medical variations for Gene (Select 57674) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366600	NM_001256071.3(RNF213):c.10351A>T (p.Met3451Leu)	RNF213, RNF213-AS1 (M3451L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3360351	NM_001256071.3(RNF213):c.10850C>T (p.Ala3617Val)	RNF213 (A3617V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3360350	NM_001256071.3(RNF213):c.4054G>T (p.Ala1352Ser)	RNF213 (A1352S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359636	NM_001256071.3(RNF213):c.14292del (p.Val4765fs)	RNF213 (V4765fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3358767	NM_001256071.3(RNF213):c.12898C>T (p.Arg4300Cys)	RNF213, RNF213-AS1 (R4300C +1 more)	Single nucleotide variant (missense variant)	RNF213-related disorder	GUncertain significance
Select item 3358733	NM_001256071.3(RNF213):c.15034A>C (p.Ser5012Arg)	RNF213, RNF213-AS1 (S5012R +1 more)	Single nucleotide variant (missense variant)	RNF213-related disorder	GUncertain significance
Select item 3358442	NM_001256071.3(RNF213):c.12860G>A (p.Arg4287Gln)	RNF213, RNF213-AS1 (R4287Q +1 more)	Single nucleotide variant (missense variant)	RNF213-related disorder	GUncertain significance
Select item 3353632	NM_001256071.3(RNF213):c.15185A>G (p.His5062Arg)	RNF213, RNF213-AS1 (H5062R +1 more)	Single nucleotide variant (missense variant)	RNF213-related disorder	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 3252942	NM_001256071.3(RNF213):c.12352T>C (p.Ser4118Pro)	RNF213, RNF213-AS1 (S4118P +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3252931	NM_001256071.3(RNF213):c.13595T>A (p.Ile4532Asn)	RNF213, RNF213-AS1 (I4532N +1 more)	Single nucleotide variant (missense variant)	not provided	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 3068953	NM_001256071.3(RNF213):c.12637C>T (p.Arg4213Trp)	LOC126862663, RNF213 +1 more (R4213W +1 more)	Single nucleotide variant (missense variant)	not specified	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 3047106	NM_001256071.3(RNF213):c.14763C>T (p.Ile4921=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	RNF213-related disorder	GLikely benign
Select item 3044717	NM_001256071.3(RNF213):c.15189G>A (p.Val5063=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	RNF213-related disorder	GLikely benign
Select item 3044502	NM_001256071.3(RNF213):c.12537G>A (p.Glu4179=)	LOC126862663, RNF213 +1 more	Single nucleotide variant (synonymous variant)	RNF213-related disorder	GLikely benign
Select item 3041120	NM_001256071.3(RNF213):c.14739C>T (p.Ala4913=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	RNF213-related disorder	GLikely benign
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 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 3022626	NM_001256071.3(RNF213):c.11568+15C>T	RNF213, RNF213-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3021288	NM_001256071.3(RNF213):c.12751+18T>C	LOC126862663, RNF213 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3020719	NM_001256071.3(RNF213):c.14601G>A (p.Glu4867=)	LOC126862664, RNF213 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991227	NM_001256071.3(RNF213):c.13039G>A (p.Glu4347Lys)	RNF213, RNF213-AS1 (E4347K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987160	NM_001256071.3(RNF213):c.14832C>T (p.Gly4944=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	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 2977772	NM_001256071.3(RNF213):c.11054+12G>T	RNF213, RNF213-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973542	NM_001256071.3(RNF213):c.14872C>T (p.Arg4958Trp)	RNF213, RNF213-AS1 (R5007W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966010	NM_001256071.3(RNF213):c.15320C>T (p.Ala5107Val)	RNF213, RNF213-AS1 (A5107V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2914811	NM_001256071.3(RNF213):c.14540-8G>A	LOC126862664, RNF213 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907643	NM_001256071.3(RNF213):c.13665C>T (p.Thr4555=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906702	NM_001256071.3(RNF213):c.13691G>A (p.Arg4564Gln)	RNF213, RNF213-AS1 (R4613Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2898802	NM_001256071.3(RNF213):c.11571C>T (p.Thr3857=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2890236	NM_001256071.3(RNF213):c.12148G>A (p.Ala4050Thr)	RNF213, RNF213-AS1 (A4099T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 2869721	NM_001256071.3(RNF213):c.14923-18T>C	RNF213, RNF213-AS1	Single nucleotide variant (intron variant)	not provided	GLikely 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 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 2859374	NM_001256071.3(RNF213):c.12172C>T (p.His4058Tyr)	RNF213, RNF213-AS1 (H4107Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858204	NM_001256071.3(RNF213):c.13428+4A>C	RNF213, RNF213-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2843910	NM_001256071.3(RNF213):c.13075-17T>C	RNF213, RNF213-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840594	NM_001256071.3(RNF213):c.12425+13T>G	RNF213, RNF213-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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
Select item 2824759	NM_001256071.3(RNF213):c.13096C>T (p.Gln4366Ter)	RNF213, RNF213-AS1 (Q4415* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2785791	NM_001256071.3(RNF213):c.13016A>C (p.Asp4339Ala)	RNF213, RNF213-AS1 (D4388A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2769931	NM_001256071.3(RNF213):c.12059G>A (p.Cys4020Tyr)	RNF213, RNF213-AS1 (C4020Y +1 more)	Single nucleotide variant (missense variant)	not provided	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 2724597	NM_001256071.3(RNF213):c.11973-5T>G	RNF213, RNF213-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2722186	NM_001256071.3(RNF213):c.15486C>T (p.Leu5162=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721123	NM_001256071.3(RNF213):c.12050G>C (p.Cys4017Ser)	RNF213, RNF213-AS1 (C4017S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 2716038	NM_001256071.3(RNF213):c.13521C>T (p.Asn4507=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715710	NM_001256071.3(RNF213):c.10423+9C>T	RNF213-AS1, RNF213	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2714928	NM_001256071.3(RNF213):c.10836C>T (p.Asp3612=)	RNF213, RNF213-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2714161	NM_001256071.3(RNF213):c.12874G>A (p.Val4292Met)	RNF213, RNF213-AS1 (V4292M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713736	NM_001256071.3(RNF213):c.12362A>G (p.Asn4121Ser)	RNF213, RNF213-AS1 (N4121S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2710372	NM_001256071.3(RNF213):c.12496G>A (p.Asp4166Asn)	LOC126862663, RNF213 +1 more (D4166N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2702183	NM_001256071.3(RNF213):c.12538G>A (p.Asp4180Asn)	LOC126862663, RNF213 +1 more (D4229N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699984	NM_001256071.3(RNF213):c.12094T>G (p.Cys4032Gly)	RNF213, RNF213-AS1 (C4032G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689877	NM_001256071.3(RNF213):c.13939C>A (p.Arg4647Ser)	RNF213, RNF213-AS1 (R4647S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689876	NM_001256071.3(RNF213):c.3025-2A>C	RNF213	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2689875	NM_001256071.3(RNF213):c.2299_2300del (p.Leu767fs)	RNF213 (L767fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2689874	NM_001256071.3(RNF213):c.7465_7466del (p.Ala2489fs)	RNF213 (A2489fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2689873	NM_001256071.3(RNF213):c.8635G>A (p.Val2879Ile)	RNF213 (V2879I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663733	NM_001256071.3(RNF213):c.15461C>T (p.Pro5154Leu)	RNF213, RNF213-AS1 (P5154L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648429	NM_001256071.3(RNF213):c.15591T>C (p.Ala5197=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648428	NM_001256071.3(RNF213):c.15075G>A (p.Leu5025=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648427	NM_001256071.3(RNF213):c.12928G>A (p.Val4310Ile)	RNF213, RNF213-AS1 (V4310I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648426	NM_001256071.3(RNF213):c.12575A>G (p.Asn4192Ser)	LOC126862663, RNF213 +1 more (N4192S +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 2648424	NM_001256071.3(RNF213):c.11193C>T (p.Asp3731=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	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 2631701	NM_001256071.3(RNF213):c.14806A>G (p.Asn4936Asp)	RNF213, RNF213-AS1 (N4936D +1 more)	Single nucleotide variant (missense variant)	RNF213-related disorder	GUncertain significance
Select item 2575830	NM_001256071.3(RNF213):c.12527A>G (p.Asn4176Ser)	LOC126862663, RNF213 +1 more (N4176S +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 2499366	NM_001256071.3(RNF213):c.13631A>T (p.His4544Leu)	RNF213, RNF213-AS1 (H4544L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2444524	NM_001256071.3(RNF213):c.14627T>G (p.Leu4876Arg)	LOC126862664, RNF213 +1 more (L4876R +1 more)	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 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 2195401	NM_001256071.3(RNF213):c.14525C>T (p.Ser4842Leu)	LOC126862664, RNF213 +1 more (S4891L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2152433	NM_001256071.3(RNF213):c.12666G>A (p.Ser4222=)	LOC126862663, RNF213 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2151128	NM_001256071.3(RNF213):c.15345G>C (p.Lys5115Asn)	RNF213, RNF213-AS1 (K5115N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2146527	NM_001256071.3(RNF213):c.10407C>T (p.Pro3469=)	RNF213-AS1, RNF213	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2077441	NM_001256071.3(RNF213):c.13179G>A (p.Thr4393=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2072149	NM_001256071.3(RNF213):c.12894C>T (p.Pro4298=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2052528	NM_001256071.3(RNF213):c.14842G>A (p.Val4948Met)	RNF213, RNF213-AS1 (V4948M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046884	NM_001256071.3(RNF213):c.12825C>T (p.His4275=)	RNF213, RNF213-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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

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