ClinVar for Gene (Select 285025) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352422	NM_173648.4(CCDC141):c.1420A>G (p.Ile474Val)	CCDC141 (I474V)	Single nucleotide variant (missense variant)	CCDC141-related disorder	GUncertain significance
Select item 3339162	NM_173648.4(CCDC141):c.3145A>G (p.Lys1049Glu)	CCDC141 (K1049E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263891	NM_173648.4(CCDC141):c.1366A>C (p.Lys456Gln)	CCDC141 (K456Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263890	NM_173648.4(CCDC141):c.287A>G (p.Lys96Arg)	CCDC141 (K96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263888	NM_173648.4(CCDC141):c.146A>G (p.Asn49Ser)	CCDC141 (N49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263887	NM_173648.4(CCDC141):c.2140G>A (p.Gly714Arg)	CCDC141, LOC126806434 (G714R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263886	NM_173648.4(CCDC141):c.2230A>C (p.Ile744Leu)	CCDC141 (I744L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263885	NM_173648.4(CCDC141):c.4048C>T (p.His1350Tyr)	CCDC141 (H1350Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263884	NM_173648.4(CCDC141):c.2372A>G (p.Gln791Arg)	CCDC141 (Q791R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263883	NM_173648.4(CCDC141):c.4417A>G (p.Lys1473Glu)	CCDC141 (K1473E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3263882	NM_173648.4(CCDC141):c.2569C>T (p.Arg857Trp)	CCDC141 (R857W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263881	NM_173648.4(CCDC141):c.1259C>G (p.Ser420Cys)	CCDC141 (S420C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263880	NM_173648.4(CCDC141):c.2600A>G (p.Asn867Ser)	CCDC141 (N867S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263879	NM_173648.4(CCDC141):c.2402G>A (p.Arg801His)	CCDC141 (R801H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3263877	NM_173648.4(CCDC141):c.766C>G (p.Gln256Glu)	CCDC141 (Q256E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263876	NM_173648.4(CCDC141):c.851A>G (p.Asn284Ser)	CCDC141 (N284S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247597	NC_000002.11:g.(?_179770036)_(179839912_?)del	CCDC141	Deletion	not provided	GUncertain significance
Select item 3247478	NC_000002.11:g.(?_178257518)_(179914668_?)del	AGPS, CCDC141 +10 more	Deletion	not provided	GPathogenic
Select item 3138432	NM_173648.4(CCDC141):c.904A>C (p.Asn302His)	CCDC141 (N302H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138431	NM_173648.4(CCDC141):c.784A>G (p.Thr262Ala)	CCDC141 (T262A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138430	NM_173648.4(CCDC141):c.541T>C (p.Ser181Pro)	CCDC141 (S181P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138429	NM_173648.4(CCDC141):c.4389G>T (p.Arg1463Ser)	CCDC141 (R1463S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138428	NM_173648.4(CCDC141):c.4384A>T (p.Thr1462Ser)	CCDC141 (T1462S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138427	NM_173648.4(CCDC141):c.4295T>A (p.Val1432Glu)	CCDC141 (V1432E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138426	NM_173648.4(CCDC141):c.421G>C (p.Ala141Pro)	CCDC141 (A141P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138424	NM_173648.4(CCDC141):c.4201G>A (p.Val1401Met)	CCDC141 (V1401M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138423	NM_173648.4(CCDC141):c.4088A>G (p.His1363Arg)	CCDC141 (H1363R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138422	NM_173648.4(CCDC141):c.3787G>C (p.Glu1263Gln)	CCDC141 (E1263Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138421	NM_173648.4(CCDC141):c.3601C>G (p.Leu1201Val)	CCDC141 (L1201V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138420	NM_173648.4(CCDC141):c.3527G>A (p.Arg1176Gln)	CCDC141 (R1176Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138419	NM_173648.4(CCDC141):c.3449C>A (p.Thr1150Lys)	CCDC141 (T1150K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138418	NM_173648.4(CCDC141):c.2523C>G (p.His841Gln)	CCDC141 (H841Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138417	NM_173648.4(CCDC141):c.2316T>A (p.His772Gln)	CCDC141 (H772Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138416	NM_173648.4(CCDC141):c.2213A>G (p.Asn738Ser)	CCDC141 (N738S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138415	NM_173648.4(CCDC141):c.218A>G (p.Lys73Arg)	CCDC141 (K73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138414	NM_173648.4(CCDC141):c.2171G>A (p.Arg724Gln)	CCDC141, LOC126806434 (R724Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138413	NM_173648.4(CCDC141):c.2088C>A (p.His696Gln)	CCDC141, LOC126806434 (H696Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138412	NM_173648.4(CCDC141):c.1644C>A (p.Asn548Lys)	CCDC141 (N548K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138411	NM_173648.4(CCDC141):c.1496A>G (p.Asn499Ser)	CCDC141 (N499S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138410	NM_173648.4(CCDC141):c.1472G>T (p.Arg491Leu)	CCDC141 (R491L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138409	NM_173648.4(CCDC141):c.1472G>A (p.Arg491His)	CCDC141 (R491H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138408	NM_173648.4(CCDC141):c.1178A>G (p.His393Arg)	CCDC141 (H393R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138407	NM_173648.4(CCDC141):c.115G>A (p.Val39Ile)	CCDC141 (V39I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138406	NM_173648.4(CCDC141):c.1154G>C (p.Ser385Thr)	CCDC141 (S385T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138404	NM_173648.4(CCDC141):c.1048A>G (p.Thr350Ala)	CCDC141 (T350A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138403	NM_173648.4(CCDC141):c.1012C>G (p.Gln338Glu)	CCDC141 (Q338E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062660	GRCh37/hg19 2q31.2(chr2:179257725-180232128)x3	CCDC141, FKBP7 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3057616	NM_173648.4(CCDC141):c.2591C>T (p.Ser864Phe)	CCDC141 (S864F)	Single nucleotide variant (missense variant)	CCDC141-related disorder	GLikely benign
Select item 3022627	NM_173648.4(CCDC141):c.102+12A>G	CCDC141	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3017881	NM_173648.4(CCDC141):c.860G>A (p.Arg287Gln)	CCDC141 (R287Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010431	NM_173648.4(CCDC141):c.2503G>A (p.Ala835Thr)	CCDC141 (A835T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007251	NM_173648.4(CCDC141):c.1485_1486insTCT (p.Glu495_Lys496insSer)	CCDC141	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 3005529	NM_173648.4(CCDC141):c.1255G>A (p.Asp419Asn)	CCDC141 (D419N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004021	NM_173648.4(CCDC141):c.576T>C (p.Thr192=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003659	NM_173648.4(CCDC141):c.2688T>G (p.Ser896Arg)	CCDC141 (S896R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997736	NM_173648.4(CCDC141):c.569A>G (p.Gln190Arg)	CCDC141 (Q190R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994760	NM_173648.4(CCDC141):c.4486C>T (p.Leu1496Phe)	CCDC141 (L1496F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986545	NM_173648.4(CCDC141):c.4383G>A (p.Glu1461=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980092	NM_173648.4(CCDC141):c.335C>T (p.Ala112Val)	CCDC141 (A112V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976661	NM_173648.4(CCDC141):c.420T>C (p.Phe140=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971817	NM_173648.4(CCDC141):c.491A>T (p.Lys164Ile)	CCDC141 (K164I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970120	NM_173648.4(CCDC141):c.329G>A (p.Gly110Asp)	CCDC141 (G110D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962748	NM_173648.4(CCDC141):c.4256C>T (p.Thr1419Ile)	CCDC141 (T1419I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961491	NM_173648.4(CCDC141):c.1726A>T (p.Met576Leu)	CCDC141 (M576L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960842	NM_173648.4(CCDC141):c.3446A>C (p.Gln1149Pro)	CCDC141 (Q1149P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960082	NM_173648.4(CCDC141):c.2865+13T>C	CCDC141	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959259	NM_173648.4(CCDC141):c.2597A>C (p.Lys866Thr)	CCDC141 (K866T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957893	NM_173648.4(CCDC141):c.3126C>T (p.Cys1042=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957065	NM_173648.4(CCDC141):c.3879G>A (p.Gln1293=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916153	NM_173648.4(CCDC141):c.780+6C>A	CCDC141	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2912521	NM_173648.4(CCDC141):c.1815G>A (p.Ser605=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906925	NM_173648.4(CCDC141):c.2718A>G (p.Ile906Met)	CCDC141 (I906M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901283	NM_173648.4(CCDC141):c.1051T>A (p.Trp351Arg)	CCDC141 (W351R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890499	NM_173648.4(CCDC141):c.2673G>T (p.Arg891=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887915	NM_173648.4(CCDC141):c.3192G>A (p.Pro1064=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885376	NM_173648.4(CCDC141):c.188TTC[1] (p.Leu64del)	CCDC141 (L64del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2884815	NM_173648.4(CCDC141):c.3948T>G (p.Ser1316Arg)	CCDC141 (S1316R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848832	NM_173648.4(CCDC141):c.665G>A (p.Arg222His)	CCDC141 (R222H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2840536	NM_173648.4(CCDC141):c.4174A>T (p.Ile1392Phe)	CCDC141 (I1392F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822606	NM_173648.4(CCDC141):c.3198A>G (p.Gln1066=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817637	NM_173648.4(CCDC141):c.59C>T (p.Ala20Val)	CCDC141, LOC129935191 (A20V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806593	NM_173648.4(CCDC141):c.2865+5del	CCDC141	Deletion (intron variant)	not provided	GUncertain significance
Select item 2799021	NM_173648.4(CCDC141):c.1528-10_1528-5del	CCDC141	Deletion (intron variant)	not provided	GUncertain significance
Select item 2771242	NM_173648.4(CCDC141):c.2188A>G (p.Met730Val)	CCDC141, LOC126806434 (M730V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747109	NM_173648.4(CCDC141):c.4437T>G (p.Tyr1479Ter)	CCDC141 (Y1479*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2742026	NM_173648.4(CCDC141):c.3751G>T (p.Val1251Leu)	CCDC141 (V1251L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2741689	NM_173648.4(CCDC141):c.2804G>A (p.Arg935Gln)	CCDC141 (R935Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2729267	NM_173648.4(CCDC141):c.2766T>C (p.Asn922=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2726980	NM_173648.4(CCDC141):c.1396del (p.Tyr466fs)	CCDC141 (Y466fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2723295	NM_173648.4(CCDC141):c.2679G>T (p.Leu893=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719941	NM_173648.4(CCDC141):c.2964G>C (p.Lys988Asn)	CCDC141 (K988N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716613	NM_173648.4(CCDC141):c.664C>T (p.Arg222Cys)	CCDC141 (R222C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716389	NM_173648.4(CCDC141):c.3321del (p.Leu1107fs)	CCDC141 (L1107fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2716356	NM_173648.4(CCDC141):c.3412dup (p.Ile1138fs)	CCDC141 (I1138fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2714725	NM_173648.4(CCDC141):c.4462G>A (p.Gly1488Ser)	CCDC141 (G1488S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2713764	NM_173648.4(CCDC141):c.3526C>T (p.Arg1176Ter)	CCDC141 (R1176*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2712183	NM_173648.4(CCDC141):c.1600G>A (p.Val534Ile)	CCDC141 (V534I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2708024	NM_173648.4(CCDC141):c.1131G>T (p.Lys377Asn)	CCDC141 (K377N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2698278	NM_173648.4(CCDC141):c.121C>T (p.Leu41Phe)	CCDC141 (L41F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672853	NM_173648.4(CCDC141):c.2606A>G (p.Gln869Arg)	CCDC141 (Q869R)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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