ClinVar for Gene (Select 9820) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382094	NM_014780.5(CUL7):c.354del (p.Gln119fs)	CUL7 (Q119fs)	Deletion (frameshift variant)	3M syndrome 1	GLikely pathogenic
Select item 3382093	NM_014780.5(CUL7):c.175_179del (p.Asp59fs)	CUL7 (D59fs)	Deletion (frameshift variant)	3M syndrome 1	GLikely pathogenic
Select item 3367199	NM_014780.5(CUL7):c.920_929del (p.Leu307fs)	CUL7 (L307fs +1 more)	Deletion (frameshift variant)	3M syndrome 1	GPathogenic
Select item 3366590	NM_014780.5(CUL7):c.2725G>A (p.Gly909Arg)	CUL7 (G909R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366461	NM_014780.5(CUL7):c.2132dup (p.Cys711fs)	CUL7 (C711fs +1 more)	Duplication (frameshift variant)	3-M syndrome	GPathogenic
Select item 3341321	NM_014780.5(CUL7):c.1972C>T (p.Gln658Ter)	CUL7 (Q658* +1 more)	Single nucleotide variant (nonsense)	3M syndrome 1	GLikely pathogenic
Select item 3270328	NM_014780.5(CUL7):c.3908A>G (p.Gln1303Arg)	CUL7 (Q1302R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270327	NM_014780.5(CUL7):c.364C>G (p.Leu122Val)	CUL7 (L122V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270326	NM_014780.5(CUL7):c.5009C>T (p.Pro1670Leu)	CUL7 (P1670L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270325	NM_014780.5(CUL7):c.2299G>A (p.Glu767Lys)	CUL7 (E799K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270324	NM_014780.5(CUL7):c.2765C>T (p.Ser922Leu)	CUL7 (S922L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270323	NM_014780.5(CUL7):c.4142A>G (p.Tyr1381Cys)	CUL7 (Y1381C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270322	NM_014780.5(CUL7):c.4186C>G (p.Arg1396Gly)	CUL7 (R1395G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270321	NM_014780.5(CUL7):c.4624C>T (p.Arg1542Trp)	CUL7 (R1541W +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3256559	NM_014780.5(CUL7):c.2428C>T (p.Arg810Ter)	CUL7 (R810* +1 more)	Single nucleotide variant (nonsense)	3M syndrome 1	GLikely pathogenic
Select item 3255581	NM_014780.5(CUL7):c.2213_2235del (p.Val738fs)	CUL7 (V738fs +1 more)	Deletion (frameshift variant)	3M syndrome 1	GLikely pathogenic
Select item 3251602	NM_014780.5(CUL7):c.390C>T (p.Gly130=)	CUL7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3246220	NC_000006.11:g.(?_43008382)_(43008663_?)del	CUL7	Deletion	not provided	GUncertain significance
Select item 3246219	NC_000006.11:g.(?_43007874)_(43008184_?)del	CUL7	Deletion	not provided	GPathogenic
Select item 3236717	NM_014780.5(CUL7):c.2875dup (p.Thr959fs)	CUL7 (T959fs +1 more)	Duplication (frameshift variant)	3M syndrome 1	GPathogenic
Select item 3078981	NM_014780.5(CUL7):c.791T>G (p.Leu264Arg)	CUL7 (L264R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078980	NM_014780.5(CUL7):c.4718G>A (p.Arg1573Gln)	CUL7 (R1572Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078979	NM_014780.5(CUL7):c.4618A>G (p.Ile1540Val)	CUL7 (I1540V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078977	NM_014780.5(CUL7):c.4234A>G (p.Thr1412Ala)	CUL7 (T1412A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078976	NM_014780.5(CUL7):c.4225A>G (p.Asn1409Asp)	CUL7 (N1409D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078975	NM_014780.5(CUL7):c.3797A>G (p.His1266Arg)	CUL7 (H1298R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078974	NM_014780.5(CUL7):c.3706G>T (p.Ala1236Ser)	CUL7 (A1235S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078972	NM_014780.5(CUL7):c.329T>G (p.Met110Arg)	CUL7 (M110R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078970	NM_014780.5(CUL7):c.2822T>G (p.Phe941Cys)	CUL7 (F941C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078969	NM_014780.5(CUL7):c.1988C>T (p.Pro663Leu)	CUL7 (P663L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078968	NM_014780.5(CUL7):c.1672G>A (p.Asp558Asn)	CUL7 (D590N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078967	NM_014780.5(CUL7):c.1109C>T (p.Ala370Val)	CUL7 (A370V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078966	NM_014780.5(CUL7):c.1058G>A (p.Arg353Lys)	CUL7 (R385K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069087	NM_014780.5(CUL7):c.-157C>T	CUL7, LOC129996487	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3068195	NM_014780.5(CUL7):c.617AAG[1] (p.Glu207del)	CUL7 (E207del +1 more)	Microsatellite (inframe_deletion)	3M syndrome 1	GUncertain significance
Select item 3064203	NM_014780.5(CUL7):c.2863-1G>C	CUL7	Single nucleotide variant (splice acceptor variant)	3M syndrome 1	GLikely pathogenic
Select item 3063889	NM_014780.5(CUL7):c.2398-2A>G	CUL7	Single nucleotide variant (splice acceptor variant)	3-M syndrome	GLikely pathogenic
Select item 3060234	NM_014780.5(CUL7):c.711C>T (p.Phe237=)	CUL7	Single nucleotide variant (synonymous variant)	CUL7-related disorder	GLikely benign
Select item 3058423	NM_014780.5(CUL7):c.2877G>A (p.Thr959=)	CUL7	Single nucleotide variant (synonymous variant)	CUL7-related disorder	GLikely benign
Select item 3058242	NM_014780.5(CUL7):c.4617C>T (p.Asp1539=)	CUL7	Single nucleotide variant (synonymous variant)	CUL7-related disorder	GLikely benign
Select item 3058226	NM_014780.5(CUL7):c.123T>C (p.Arg41=)	CUL7	Single nucleotide variant (synonymous variant)	CUL7-related disorder	GLikely benign
Select item 3056970	NM_014780.5(CUL7):c.3645+34C>A	CUL7	Single nucleotide variant (intron variant)	CUL7-related disorder	GLikely benign
Select item 3053742	NM_014780.5(CUL7):c.789C>A (p.Leu263=)	CUL7	Single nucleotide variant (synonymous variant)	CUL7-related disorder	GLikely benign
Select item 3050745	NM_014780.5(CUL7):c.4774-6C>T	CUL7	Single nucleotide variant (intron variant)	CUL7-related disorder	GLikely benign
Select item 3042430	NM_014780.5(CUL7):c.816G>A (p.Ala272=)	CUL7	Single nucleotide variant (synonymous variant)	CUL7-related disorder	GLikely benign
Select item 3032333	NM_014780.5(CUL7):c.3398G>A (p.Arg1133Gln)	CUL7 (R1132Q +2 more)	Single nucleotide variant (missense variant)	CUL7-related disorder	GUncertain significance
Select item 3023382	NM_014780.5(CUL7):c.2592T>C (p.Tyr864=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019829	NM_014780.5(CUL7):c.2475A>G (p.Arg825=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3018252	NM_014780.5(CUL7):c.2757A>G (p.Glu919=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017650	NM_014780.5(CUL7):c.1182C>T (p.Ala394=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011440	NM_014780.5(CUL7):c.1274G>A (p.Trp425Ter)	CUL7 (W425* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3011142	NM_014780.5(CUL7):c.4725C>T (p.Leu1575=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010457	NM_014780.5(CUL7):c.3979G>T (p.Asp1327Tyr)	CUL7 (D1326Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000634	NM_014780.5(CUL7):c.3024G>A (p.Leu1008=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998009	NM_014780.5(CUL7):c.2613C>T (p.Ala871=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997718	NM_014780.5(CUL7):c.1531G>A (p.Glu511Lys)	CUL7 (E543K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992988	NM_014780.5(CUL7):c.4767C>T (p.Val1589=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989660	NM_014780.5(CUL7):c.355C>A (p.Gln119Lys)	CUL7 (Q119K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988646	NM_014780.5(CUL7):c.4365G>T (p.Glu1455Asp)	CUL7 (E1454D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976370	NM_014780.5(CUL7):c.3075T>C (p.Ala1025=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973493	NM_014780.5(CUL7):c.78C>A (p.Ile26=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970671	NM_014780.5(CUL7):c.1372+13A>G	CUL7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970467	NM_014780.5(CUL7):c.3573A>C (p.Ala1191=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970176	NM_014780.5(CUL7):c.890G>C (p.Ser297Thr)	CUL7 (S297T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968865	NM_014780.5(CUL7):c.3039-5C>T	CUL7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963629	NM_014780.5(CUL7):c.1072C>T (p.Arg358Cys)	CUL7 (R390C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962925	NM_014780.5(CUL7):c.3579C>T (p.Phe1193=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960962	NM_014780.5(CUL7):c.4774-8C>T	CUL7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960170	NM_014780.5(CUL7):c.1870C>T (p.Leu624=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957657	NM_014780.5(CUL7):c.2766+17A>G	CUL7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904630	NM_014780.5(CUL7):c.3543C>T (p.Asn1181=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904216	NM_014780.5(CUL7):c.4179C>T (p.Val1393=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895859	NM_014780.5(CUL7):c.1269G>T (p.Val423=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889414	NM_014780.5(CUL7):c.244C>T (p.Leu82=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886488	NM_014780.5(CUL7):c.1002G>A (p.Gln334=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882935	NM_014780.5(CUL7):c.1137G>A (p.Pro379=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882721	NM_014780.5(CUL7):c.3168C>T (p.Ser1056=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877830	NM_014780.5(CUL7):c.2142_2161del (p.Cys714_Asp721delinsTer)	CUL7	Deletion (nonsense)	not provided	GPathogenic
Select item 2876123	NM_014780.5(CUL7):c.5011C>A (p.Leu1671Ile)	CUL7 (L1703I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874867	NM_014780.5(CUL7):c.258C>T (p.Gly86=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868436	NM_014780.5(CUL7):c.4440+10C>T	CUL7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851867	NM_014780.5(CUL7):c.2661-20T>G	CUL7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849804	NM_014780.5(CUL7):c.3463-1G>T	CUL7	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2846694	NM_014780.5(CUL7):c.1826-15_1826-14del	CUL7	Deletion (intron variant)	not provided	GLikely benign
Select item 2835432	NM_014780.5(CUL7):c.51C>A (p.Gly17=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826567	NM_014780.5(CUL7):c.627T>C (p.Ile209=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826520	NM_014780.5(CUL7):c.4206C>T (p.Ala1402=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824071	NM_014780.5(CUL7):c.1197G>T (p.Glu399Asp)	CUL7 (E431D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822095	NM_014780.5(CUL7):c.4024-10G>C	CUL7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811544	NM_014780.5(CUL7):c.2397+18C>G	CUL7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803719	NM_014780.5(CUL7):c.1569+17G>A	CUL7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802792	NM_014780.5(CUL7):c.2729dup (p.Gly910_Asp911insTer)	CUL7	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2796226	NM_014780.5(CUL7):c.1989G>A (p.Pro663=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788647	NM_014780.5(CUL7):c.1758A>G (p.Gln586=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785337	NM_014780.5(CUL7):c.2863-20T>C	CUL7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784386	NM_014780.5(CUL7):c.1022G>C (p.Gly341Ala)	CUL7 (G341A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782559	NM_014780.5(CUL7):c.733-16A>C	CUL7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776516	NM_014780.5(CUL7):c.2409C>T (p.Gly803=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2775751	NM_014780.5(CUL7):c.3246C>T (p.Pro1082=)	CUL7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2770162	NM_014780.5(CUL7):c.2767-7dup	CUL7	Duplication (intron variant)	not provided	GBenign

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