ClinVar for Gene (Select 55072) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3155399	NM_017999.5(RNF31):c.2680C>T (p.Arg894Cys)	RNF31 (R743C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155398	NM_017999.5(RNF31):c.212C>T (p.Thr71Ile)	RNF31 (T71I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155397	NM_017999.5(RNF31):c.1630C>G (p.Pro544Ala)	RNF31 (P393A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155396	NM_017999.5(RNF31):c.1598A>C (p.Glu533Ala)	RNF31 (E382A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063335	GRCh37/hg19 14q11.2-12(chr14:24566156-24631608)x1	DCAF11, EMC9 +6 more	Copy number loss	not specified	GUncertain significance
Select item 3031412	NM_017999.5(RNF31):c.2131-8C>A	RNF31	Single nucleotide variant (intron variant)	RNF31-related disorder	GLikely benign
Select item 3021770	NM_017999.5(RNF31):c.2179C>T (p.Arg727Cys)	RNF31 (R576C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021456	NM_017999.5(RNF31):c.1421_1429del (p.Gly474_Pro476del)	RNF31	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 3017397	NM_017999.5(RNF31):c.2128C>T (p.Arg710Trp)	RNF31 (R559W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015631	NM_017999.5(RNF31):c.1862G>A (p.Arg621His)	RNF31 (R621H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011727	NM_017999.5(RNF31):c.271C>T (p.Arg91Trp)	RNF31 (R91W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3010984	NM_017999.5(RNF31):c.556-13C>G	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007948	NM_017999.5(RNF31):c.1640G>T (p.Gly547Val)	RNF31 (G396V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005991	NM_017999.5(RNF31):c.643G>C (p.Gly215Arg)	RNF31 (G215R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005521	NM_017999.5(RNF31):c.114A>T (p.Leu38=)	RNF31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3005166	NM_017999.5(RNF31):c.2770G>A (p.Gly924Ser)	RNF31 (G924S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004675	NM_017999.5(RNF31):c.373A>G (p.Thr125Ala)	RNF31 (T125A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3004390	NM_017999.5(RNF31):c.588G>A (p.Leu196=)	RNF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004093	NM_017999.5(RNF31):c.2062C>T (p.Arg688Trp)	RNF31 (R537W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002581	NM_017999.5(RNF31):c.352G>A (p.Val118Met)	RNF31 (V118M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3001776	NM_017999.5(RNF31):c.1730G>A (p.Arg577Gln)	RNF31 (R426Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000902	NM_017999.5(RNF31):c.56G>A (p.Ser19Asn)	LOC121468009, RNF31 (S19N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3000873	NM_017999.5(RNF31):c.89C>G (p.Ser30Cys)	RNF31 (S30C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2996574	NM_017999.5(RNF31):c.194C>T (p.Pro65Leu)	RNF31 (P65L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2995728	NM_017999.5(RNF31):c.216G>C (p.Leu72=)	RNF31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2995427	NM_017999.5(RNF31):c.1611G>A (p.Glu537=)	RNF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993869	NM_017999.5(RNF31):c.3100C>T (p.Leu1034=)	RNF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992594	NM_017999.5(RNF31):c.2997-5C>T	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992118	NM_017999.5(RNF31):c.424G>A (p.Asp142Asn)	RNF31 (D142N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2991619	NM_017999.5(RNF31):c.2553C>T (p.Asn851=)	RNF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991610	NM_017999.5(RNF31):c.1923+12A>G	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991240	NM_017999.5(RNF31):c.2006C>T (p.Thr669Ile)	RNF31 (T518I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990863	NM_017999.5(RNF31):c.404C>T (p.Pro135Leu)	RNF31 (P135L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2989812	NM_017999.5(RNF31):c.1738G>A (p.Val580Met)	RNF31 (V429M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988855	NM_017999.5(RNF31):c.2569G>A (p.Ala857Thr)	RNF31 (A706T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988745	NM_017999.5(RNF31):c.1046T>C (p.Leu349Pro)	RNF31 (L198P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987564	NM_017999.5(RNF31):c.3083C>T (p.Thr1028Met)	RNF31 (T1028M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986784	NM_017999.5(RNF31):c.2122C>T (p.His708Tyr)	RNF31 (H557Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986779	NM_017999.5(RNF31):c.84G>A (p.Ala28=)	RNF31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2986666	NM_017999.5(RNF31):c.30C>T (p.Phe10=)	LOC121468009, RNF31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2986572	NM_017999.5(RNF31):c.2841+20G>A	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986434	NM_017999.5(RNF31):c.2937T>C (p.Asn979=)	RNF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985403	NM_017999.5(RNF31):c.1268C>T (p.Ser423Leu)	RNF31 (S272L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985324	NM_017999.5(RNF31):c.2404-17T>C	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985217	NM_017999.5(RNF31):c.1627G>A (p.Asp543Asn)	RNF31 (D392N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984499	NM_017999.5(RNF31):c.2130+16C>T	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984308	NM_017999.5(RNF31):c.3166-14C>T	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982700	NM_017999.5(RNF31):c.3154C>T (p.Arg1052Cys)	RNF31 (R1052C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981649	NM_017999.5(RNF31):c.2486A>G (p.Lys829Arg)	RNF31 (K678R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981495	NM_017999.5(RNF31):c.688C>G (p.Pro230Ala)	RNF31 (P230A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978055	NM_017999.5(RNF31):c.2404-19T>C	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977302	NM_017999.5(RNF31):c.2515C>T (p.Arg839Trp)	RNF31 (R839W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977273	NM_017999.5(RNF31):c.74C>G (p.Ser25Cys)	RNF31 (S25C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2975445	NM_017999.5(RNF31):c.2733T>C (p.Cys911=)	RNF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972186	NM_017999.5(RNF31):c.2126A>G (p.Asn709Ser)	RNF31 (N709S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971595	NM_017999.5(RNF31):c.52G>A (p.Ala18Thr)	LOC121468009, RNF31 (A18T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2971479	NM_017999.5(RNF31):c.1153G>A (p.Val385Met)	RNF31 (V385M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971251	NM_017999.5(RNF31):c.100C>T (p.Leu34Phe)	RNF31 (L34F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2969908	NM_017999.5(RNF31):c.2292C>T (p.Thr764=)	RNF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969053	NM_017999.5(RNF31):c.261C>T (p.Leu87=)	RNF31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2964348	NM_017999.5(RNF31):c.192+9C>T	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962606	NM_017999.5(RNF31):c.979C>A (p.Arg327=)	RNF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961861	NM_017999.5(RNF31):c.1616C>T (p.Ala539Val)	RNF31 (A388V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961523	NM_017999.5(RNF31):c.632-20C>T	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958880	NM_017999.5(RNF31):c.340-6T>G	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958519	NM_017999.5(RNF31):c.654C>T (p.Phe218=)	RNF31	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2957613	NM_017999.5(RNF31):c.266C>T (p.Pro89Leu)	RNF31 (P89L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2957029	NM_017999.5(RNF31):c.2842-20C>T	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918802	NM_017999.5(RNF31):c.1292T>C (p.Met431Thr)	RNF31 (M280T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912407	NM_017999.5(RNF31):c.2242G>A (p.Gly748Ser)	RNF31 (G597S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902527	NM_017999.5(RNF31):c.1861C>T (p.Arg621Cys)	RNF31 (R621C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901485	NM_017999.5(RNF31):c.1157T>C (p.Val386Ala)	RNF31 (V235A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900829	NM_017999.5(RNF31):c.59C>T (p.Ala20Val)	LOC121468009, RNF31 (A20V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2899108	NM_017999.5(RNF31):c.764G>A (p.Arg255His)	RNF31 (R104H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898524	NM_017999.5(RNF31):c.1455G>T (p.Arg485=)	RNF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896896	NM_017999.5(RNF31):c.2988C>T (p.Gly996=)	RNF31	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2895027	NM_017999.5(RNF31):c.1507G>A (p.Ala503Thr)	RNF31 (A352T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894973	NM_017999.5(RNF31):c.1846C>T (p.Arg616Cys)	RNF31 (R616C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894135	NM_017999.5(RNF31):c.124C>T (p.Leu42=)	RNF31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2892946	NM_017999.5(RNF31):c.540C>T (p.Asp180=)	RNF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892617	NM_017999.5(RNF31):c.1487G>A (p.Arg496Gln)	RNF31 (R345Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892042	NM_017999.5(RNF31):c.2494-9C>G	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2891593	NM_017999.5(RNF31):c.1669G>T (p.Ala557Ser)	RNF31 (A557S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889241	NM_017999.5(RNF31):c.2510G>A (p.Arg837Gln)	RNF31 (R837Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888940	NM_017999.5(RNF31):c.387A>G (p.Pro129=)	RNF31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2887859	NM_017999.5(RNF31):c.1423G>T (p.Asp475Tyr)	RNF31 (D324Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883692	NM_017999.5(RNF31):c.2728A>C (p.Lys910Gln)	RNF31 (K910Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883586	NM_017999.5(RNF31):c.2325A>G (p.Pro775=)	RNF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883181	NM_017999.5(RNF31):c.308C>A (p.Pro103His)	RNF31 (P103H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2880904	NM_017999.5(RNF31):c.2361G>A (p.Glu787=)	RNF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880564	NM_017999.5(RNF31):c.2493+6G>A	RNF31	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2879616	NM_017999.5(RNF31):c.495+11C>T	RNF31	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2879136	NM_017999.5(RNF31):c.339+15C>T	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877176	NM_017999.5(RNF31):c.1729C>T (p.Arg577Ter)	RNF31 (R577* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2874987	NM_017999.5(RNF31):c.185A>T (p.His62Leu)	RNF31 (H62L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2874009	NM_017999.5(RNF31):c.556-13C>T	RNF31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872901	NM_017999.5(RNF31):c.498T>C (p.Asn166=)	RNF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872876	NM_017999.5(RNF31):c.2310C>T (p.Arg770=)	RNF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872259	NM_017999.5(RNF31):c.3166-17TC[2]	RNF31	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2871242	NM_017999.5(RNF31):c.2139C>T (p.Ala713=)	RNF31	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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