ClinVar for Gene (Select 339965) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3138604	NM_001394954.1(CCDC158):c.773T>C (p.Ile258Thr)	CCDC158 (I258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138603	NM_001394954.1(CCDC158):c.646C>T (p.Arg216Cys)	CCDC158 (R216C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138601	NM_001394954.1(CCDC158):c.569G>A (p.Arg190Gln)	CCDC158 (R190Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138600	NM_001394954.1(CCDC158):c.509C>T (p.Thr170Ile)	CCDC158 (T170I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138599	NM_001394954.1(CCDC158):c.394A>G (p.Ile132Val)	CCDC158 (I132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138598	NM_001394954.1(CCDC158):c.358C>G (p.Gln120Glu)	CCDC158 (Q120E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138597	NM_001394954.1(CCDC158):c.338T>C (p.Ile113Thr)	CCDC158 (I113T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138595	NM_001394954.1(CCDC158):c.2779G>A (p.Glu927Lys)	CCDC158 (E927K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138594	NM_001394954.1(CCDC158):c.2630C>T (p.Pro877Leu)	CCDC158 (P877L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138593	NM_001394954.1(CCDC158):c.2605G>A (p.Val869Ile)	CCDC158 (V869I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138592	NM_001394954.1(CCDC158):c.2468G>A (p.Cys823Tyr)	CCDC158 (C823Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138590	NM_001394954.1(CCDC158):c.2051G>A (p.Arg684Gln)	CCDC158 (R684Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138589	NM_001394954.1(CCDC158):c.1862G>A (p.Arg621Gln)	CCDC158 (R621Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138588	NM_001394954.1(CCDC158):c.1552G>A (p.Glu518Lys)	CCDC158 (E518K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138587	NM_001394954.1(CCDC158):c.1490C>T (p.Thr497Ile)	CCDC158 (T497I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138586	NM_001394954.1(CCDC158):c.1351G>A (p.Ala451Thr)	CCDC158 (A451T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138585	NM_001394954.1(CCDC158):c.1289G>A (p.Arg430His)	CCDC158 (R430H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138584	NM_001394954.1(CCDC158):c.1094G>A (p.Arg365His)	CCDC158 (R365H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138583	NM_001394954.1(CCDC158):c.1031C>T (p.Thr344Ile)	CCDC158 (T344I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062778	GRCh37/hg19 4q13.3-21.21(chr4:74822261-79345650)x1	AREG, ART3 +37 more	Copy number loss	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2623966	NM_001394954.1(CCDC158):c.988C>T (p.Arg330Cys)	CCDC158 (R330C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605589	NM_001394954.1(CCDC158):c.418C>A (p.Gln140Lys)	CCDC158 (Q140K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605588	NM_001394954.1(CCDC158):c.2903A>G (p.Asp968Gly)	CCDC158 (D968G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603739	NM_001394954.1(CCDC158):c.2032G>A (p.Val678Ile)	CCDC158 (V678I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603363	NM_001394954.1(CCDC158):c.3089C>T (p.Thr1030Ile)	CCDC158 (T1026I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602267	NM_001394954.1(CCDC158):c.3050A>G (p.Asn1017Ser)	CCDC158 (N1013S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602238	NM_001394954.1(CCDC158):c.1775A>T (p.Lys592Ile)	CCDC158 (K592I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601866	NM_001394954.1(CCDC158):c.2507G>A (p.Arg836His)	CCDC158 (R836H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591155	NM_001394954.1(CCDC158):c.3269A>G (p.Lys1090Arg)	CCDC158 (K1086R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589732	NM_001394954.1(CCDC158):c.1343G>A (p.Arg448Gln)	CCDC158 (R448Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552968	NM_001394954.1(CCDC158):c.554T>A (p.Val185Glu)	CCDC158 (V185E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548174	NM_001394954.1(CCDC158):c.1803T>G (p.Asp601Glu)	CCDC158 (D601E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513453	NM_001394954.1(CCDC158):c.1857G>T (p.Lys619Asn)	CCDC158 (K619N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494963	NM_001394954.1(CCDC158):c.3271A>G (p.Asn1091Asp)	CCDC158 (N1087D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493761	NM_001394954.1(CCDC158):c.100A>G (p.Ile34Val)	CCDC158 (I34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493292	NM_001394954.1(CCDC158):c.842C>T (p.Thr281Ile)	CCDC158 (T281I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476556	NM_001394954.1(CCDC158):c.2119G>C (p.Glu707Gln)	CCDC158 (E707Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472950	NM_001394954.1(CCDC158):c.1594G>A (p.Glu532Lys)	CCDC158 (E532K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471953	NM_001394954.1(CCDC158):c.3283T>C (p.Ser1095Pro)	CCDC158 (S1095P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461329	NM_001394954.1(CCDC158):c.2554G>A (p.Gly852Arg)	CCDC158 (G852R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460515	NM_001394954.1(CCDC158):c.188C>T (p.Ser63Phe)	CCDC158 (S63F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457618	NM_001394954.1(CCDC158):c.1111G>A (p.Glu371Lys)	CCDC158 (E371K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454913	NM_001394954.1(CCDC158):c.1897G>A (p.Glu633Lys)	CCDC158 (E633K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410240	NM_001394954.1(CCDC158):c.103C>T (p.Arg35Cys)	CCDC158 (R35C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409500	NM_001394954.1(CCDC158):c.1138C>G (p.Gln380Glu)	CCDC158 (Q380E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397925	NM_001394954.1(CCDC158):c.104G>A (p.Arg35His)	CCDC158 (R35H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389454	NM_001394954.1(CCDC158):c.3209G>T (p.Cys1070Phe)	CCDC158 (C1070F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376044	NM_001394954.1(CCDC158):c.1861C>T (p.Arg621Trp)	CCDC158 (R621W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373700	NM_001394954.1(CCDC158):c.1411G>C (p.Glu471Gln)	CCDC158 (E471Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368361	NM_001394954.1(CCDC158):c.2930A>C (p.Glu977Ala)	CCDC158 (E977A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364620	NM_001394954.1(CCDC158):c.2339C>G (p.Thr780Ser)	CCDC158 (T780S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363417	NM_001394954.1(CCDC158):c.3041G>A (p.Arg1014His)	CCDC158 (R1010H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362235	NM_001394954.1(CCDC158):c.2585G>A (p.Arg862His)	CCDC158 (R862H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359388	NM_001394954.1(CCDC158):c.185A>G (p.Asp62Gly)	CCDC158 (D62G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357366	NM_001394954.1(CCDC158):c.1433G>A (p.Arg478His)	CCDC158 (R478H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345273	NM_001394954.1(CCDC158):c.1552G>C (p.Glu518Gln)	CCDC158 (E518Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343375	NM_001394954.1(CCDC158):c.568C>T (p.Arg190Trp)	CCDC158 (R190W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324067	NM_001394954.1(CCDC158):c.3134C>T (p.Ser1045Phe)	CCDC158 (S1045F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321796	NM_001394954.1(CCDC158):c.205C>A (p.Pro69Thr)	CCDC158 (P69T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317802	NM_001394954.1(CCDC158):c.3077A>C (p.His1026Pro)	CCDC158 (H1026P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317583	NM_001394954.1(CCDC158):c.1271G>A (p.Arg424Gln)	CCDC158 (R424Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315093	NM_001394954.1(CCDC158):c.1636G>T (p.Val546Leu)	CCDC158 (V546L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307703	NM_001394954.1(CCDC158):c.1006G>T (p.Ala336Ser)	CCDC158 (A336S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295549	NM_001394954.1(CCDC158):c.2185G>C (p.Ala729Pro)	CCDC158 (A729P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268204	NM_001394954.1(CCDC158):c.527G>A (p.Arg176Gln)	CCDC158 (R176Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266226	NM_001394954.1(CCDC158):c.2261A>G (p.Glu754Gly)	CCDC158 (E754G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263725	NM_001394954.1(CCDC158):c.35A>T (p.Asp12Val)	CCDC158 (D12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262546	NM_001394954.1(CCDC158):c.640C>T (p.His214Tyr)	CCDC158 (H214Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255685	NM_001394954.1(CCDC158):c.2954C>G (p.Thr985Arg)	CCDC158 (T981R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235525	NM_001394954.1(CCDC158):c.125C>T (p.Thr42Ile)	CCDC158 (T42I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233980	NM_001394954.1(CCDC158):c.616G>C (p.Glu206Gln)	CCDC158 (E206Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222898	NM_001394954.1(CCDC158):c.2111C>T (p.Ala704Val)	CCDC158 (A704V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219657	NM_001394954.1(CCDC158):c.146C>T (p.Thr49Ile)	CCDC158 (T49I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218384	NM_001394954.1(CCDC158):c.2765C>T (p.Ser922Phe)	CCDC158 (S922F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215708	NM_001394954.1(CCDC158):c.2402G>A (p.Arg801His)	CCDC158 (R801H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212517	NM_001394954.1(CCDC158):c.1217G>A (p.Arg406Gln)	CCDC158 (R406Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684642	NC_000004.12:g.67833055_82716065del	MUC7, NAA11 +330 more	Deletion	See cases	GPathogenic
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1527095	GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154)	CXCL5, CXCL6 +51 more	Copy number loss	not specified	GPathogenic
Select item 1456083	NC_000004.11:g.(?_76481293)_(77700330_?)del	ART3, CCDC158 +16 more	Deletion	Progressive myoclonic epilepsy	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1050165	NM_001394954.1(CCDC158):c.3301C>A (p.Gln1101Lys)	CCDC158 (Q1097K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 980096	GRCh37/hg19 4q21.1(chr4:76998519-77433888)x3	STBD1, NUP54 +6 more	Copy number gain	not provided	GUncertain significance
Select item 814571	GRCh37/hg19 4q21.1(chr4:77242490-78093831)x1	SOWAHB, SEPTIN11 +4 more	Copy number loss	not provided	GUncertain significance
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 688059	GRCh37/hg19 4q21.1(chr4:77278194-78393601)x3	CCDC158, CCNG2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685523	GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1	ADAMTS3, AFM +51 more	Copy number loss	not provided	GPathogenic
Select item 685407	GRCh37/hg19 4q21.1(chr4:77278194-78393601)x3	CCDC158, CCNG2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562932	GRCh37/hg19 4q13.3-21.1(chr4:74890695-77318961)x1	CDKL2, AREG +25 more	Copy number loss	not provided	GUncertain significance
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 152987	GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3	ANXA3, ART3 +107 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	See cases	GPathogenic

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