CCDC141[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	KLHL23, KLHL41 +488 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	ABI2, AGPS +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	LOC129935258, LOC129935259 +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 1230587	NM_173648.4(CCDC141):c.*304C>T	CCDC141	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1245548	NM_173648.4(CCDC141):c.*56C>T	CCDC141	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2241795	NM_173648.4(CCDC141):c.4586C>G (p.Thr1529Arg)	CCDC141 (T1529R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1272099	NM_173648.4(CCDC141):c.4548C>T (p.Val1516=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 741589	NM_173648.4(CCDC141):c.4539C>T (p.Thr1513=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1424979	NM_173648.4(CCDC141):c.4499G>T (p.Gly1500Val)	CCDC141 (G1500V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2020316	NM_173648.4(CCDC141):c.4497A>G (p.Thr1499=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1435305	NM_173648.4(CCDC141):c.4496C>G (p.Thr1499Arg)	CCDC141 (T1499R)	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 2714725	NM_173648.4(CCDC141):c.4462G>A (p.Gly1488Ser)	CCDC141 (G1488S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2467535	NM_173648.4(CCDC141):c.4460G>A (p.Ser1487Asn)	CCDC141 (S1487N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2186556	NM_173648.4(CCDC141):c.4444C>T (p.Arg1482Trp)	CCDC141 (R1482W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2166178	NM_173648.4(CCDC141):c.4426G>A (p.Ala1476Thr)	CCDC141 (A1476T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2546405	NM_173648.4(CCDC141):c.4411G>A (p.Val1471Ile)	CCDC141 (V1471I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 773847	NM_173648.4(CCDC141):c.4369G>A (p.Val1457Ile)	CCDC141 (V1457I)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GLikely benign
Select item 2220748	NM_173648.4(CCDC141):c.4351G>C (p.Ala1451Pro)	CCDC141 (A1451P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1500313	NM_173648.4(CCDC141):c.4347G>T (p.Leu1449Phe)	CCDC141 (L1449F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1277788	NM_173648.4(CCDC141):c.4326-217T>C	CCDC141	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1341698	NM_173648.4(CCDC141):c.4312C>T (p.Pro1438Ser)	CCDC141 (P1438S)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism	GUncertain significance
Select item 751998	NM_173648.4(CCDC141):c.4260C>A (p.Val1420=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2052284	NM_173648.4(CCDC141):c.4243C>G (p.Leu1415Val)	CCDC141 (L1415V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2528364	NM_173648.4(CCDC141):c.4237A>G (p.Arg1413Gly)	CCDC141 (R1413G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2471668	NM_173648.4(CCDC141):c.4166G>A (p.Arg1389Gln)	CCDC141 (R1389Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 745000	NM_173648.4(CCDC141):c.4160T>C (p.Val1387Ala)	CCDC141 (V1387A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2471691	NM_173648.4(CCDC141):c.4133C>T (p.Thr1378Ile)	CCDC141 (T1378I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1913681	NM_173648.4(CCDC141):c.4107C>T (p.Phe1369=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2029211	NM_173648.4(CCDC141):c.4055A>T (p.Asp1352Val)	CCDC141 (D1352V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2338963	NM_173648.4(CCDC141):c.4018G>A (p.Gly1340Ser)	CCDC141 (G1340S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465377	NM_173648.4(CCDC141):c.4011G>C (p.Gln1337His)	CCDC141 (Q1337H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2957065	NM_173648.4(CCDC141):c.3879G>A (p.Gln1293=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1422979	NM_173648.4(CCDC141):c.3850T>A (p.Ser1284Thr)	CCDC141 (S1284T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140455	NM_173648.4(CCDC141):c.3822T>A (p.Asp1274Glu)	CCDC141 (D1274E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2268611	NM_173648.4(CCDC141):c.3821A>T (p.Asp1274Val)	CCDC141 (D1274V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1465867	NM_173648.4(CCDC141):c.3782C>T (p.Ala1261Val)	CCDC141 (A1261V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 727987	NM_173648.4(CCDC141):c.3753G>A (p.Val1251=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2531078	NM_173648.4(CCDC141):c.3709C>A (p.Pro1237Thr)	CCDC141 (P1237T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1275269	NM_173648.4(CCDC141):c.3678T>C (p.Pro1226=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 745754	NM_173648.4(CCDC141):c.3630A>G (p.Ser1210=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738519	NM_173648.4(CCDC141):c.3627C>T (p.Val1209=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2507952	NM_173648.4(CCDC141):c.3598A>G (p.Met1200Val)	CCDC141 (M1200V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1512397	NM_173648.4(CCDC141):c.3571G>A (p.Val1191Ile)	CCDC141 (V1191I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713764	NM_173648.4(CCDC141):c.3526C>T (p.Arg1176Ter)	CCDC141 (R1176*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1283171	NM_173648.4(CCDC141):c.3509A>G (p.Asn1170Ser)	CCDC141 (N1170S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2511273	NM_173648.4(CCDC141):c.3505A>G (p.Ile1169Val)	CCDC141 (I1169V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 742086	NM_173648.4(CCDC141):c.3500T>A (p.Leu1167Ter)	CCDC141 (L1167*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 1279504	NM_173648.4(CCDC141):c.3475-108_3475-107dup	CCDC141	Duplication (intron variant)	not provided	GBenign
Select item 1270109	NM_173648.4(CCDC141):c.3475-139G>A	CCDC141	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1900741	NM_173648.4(CCDC141):c.3474+17A>C	CCDC141	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2716356	NM_173648.4(CCDC141):c.3412dup (p.Ile1138fs)	CCDC141 (I1138fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1274907	NM_173648.4(CCDC141):c.3358-81G>C	CCDC141	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276278	NM_173648.4(CCDC141):c.3358-237T>C	CCDC141	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286840	NM_173648.4(CCDC141):c.3357+167_3357+170del	CCDC141	Microsatellite (intron variant)	not provided	GBenign
Select item 1251209	NM_173648.4(CCDC141):c.3357+101G>A	CCDC141	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2716389	NM_173648.4(CCDC141):c.3321del (p.Leu1107fs)	CCDC141 (L1107fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 760874	NM_173648.4(CCDC141):c.3303T>C (p.Leu1101=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1408487	NM_173648.4(CCDC141):c.3293_3294del (p.Lys1098fs)	CCDC141 (K1098fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 709624	NM_173648.4(CCDC141):c.3245-8C>T	CCDC141	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 758644	NM_173648.4(CCDC141):c.3245-9C>G	CCDC141	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238632	NM_173648.4(CCDC141):c.3244+35A>T	CCDC141	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2822606	NM_173648.4(CCDC141):c.3198A>G (p.Gln1066=)	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 2059502	NM_173648.4(CCDC141):c.3191C>T (p.Pro1064Leu)	CCDC141 (P1064L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2617809	NM_173648.4(CCDC141):c.3128A>G (p.Lys1043Arg)	CCDC141 (K1043R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2539179	NM_173648.4(CCDC141):c.3125G>A (p.Cys1042Tyr)	CCDC141 (C1042Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 722431	NM_173648.4(CCDC141):c.3111A>T (p.Lys1037Asn)	CCDC141 (K1037N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2331595	NM_173648.4(CCDC141):c.3104T>A (p.Val1035Asp)	CCDC141 (V1035D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2067298	NM_173648.4(CCDC141):c.3076G>A (p.Glu1026Lys)	CCDC141 (E1026K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 759444	NM_173648.4(CCDC141):c.3075C>T (p.Tyr1025=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1220880	NM_173648.4(CCDC141):c.3060+108T>A	CCDC141	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1628826	NM_173648.4(CCDC141):c.3060+19G>T	CCDC141	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2255744	NM_173648.4(CCDC141):c.2979T>A (p.His993Gln)	CCDC141 (H993Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2153504	NM_173648.4(CCDC141):c.2948T>C (p.Leu983Pro)	CCDC141 (L983P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2026093	NM_173648.4(CCDC141):c.2902A>G (p.Thr968Ala)	CCDC141 (T968A)	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 2806593	NM_173648.4(CCDC141):c.2865+5del	CCDC141	Deletion (intron variant)	not provided	GUncertain significance
Select item 1424159	NM_173648.4(CCDC141):c.2862G>T (p.Met954Ile)	CCDC141 (M954I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2271018	NM_173648.4(CCDC141):c.2861T>C (p.Met954Thr)	CCDC141 (M954T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1260713	NM_173648.4(CCDC141):c.2817G>A (p.Ala939=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1231630	NM_173648.4(CCDC141):c.2803C>T (p.Arg935Trp)	CCDC141 (R935W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 751235	NM_173648.4(CCDC141):c.2799A>G (p.Lys933=)	CCDC141	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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