20359[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 149273	GRCh38/hg38 14q31.1-31.3(chr14:79330723-85885507)x3	CEP128, DIO2 +58 more	Copy number gain	See cases	GLikely pathogenic
Select item 149092	GRCh38/hg38 14q31.1(chr14:80454755-81069410)x1	CEP128, DIO2-AS1 +10 more	Copy number loss	See cases	GUncertain significance
Select item 2618240	NM_152446.5(CEP128):c.3281G>A (p.Ser1094Asn)	CEP128 (S1094N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265996	NM_152446.5(CEP128):c.3278G>A (p.Gly1093Glu)	CEP128 (G1093E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2258197	NM_152446.5(CEP128):c.3275A>G (p.Tyr1092Cys)	CEP128 (Y1092C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612787	NM_152446.5(CEP128):c.3258A>T (p.Gln1086His)	CEP128 (Q1086H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142535	NM_152446.5(CEP128):c.3223A>C (p.Lys1075Gln)	CEP128 (K1075Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 724772	NM_152446.5(CEP128):c.3213A>C (p.Ser1071=)	CEP128	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2245780	NM_152446.5(CEP128):c.3190A>G (p.Lys1064Glu)	CEP128 (K1064E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142534	NM_152446.5(CEP128):c.3145C>T (p.Arg1049Cys)	CEP128 (R1049C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336088	NM_152446.5(CEP128):c.3110G>A (p.Gly1037Glu)	CEP128 (G1037E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265994	NM_152446.5(CEP128):c.3107G>A (p.Arg1036His)	CEP128 (R1036H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3142533	NM_152446.5(CEP128):c.3074G>A (p.Gly1025Asp)	CEP128 (G1025D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2605365	NM_152446.5(CEP128):c.3051G>T (p.Lys1017Asn)	CEP128 (K1017N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403015	NM_152446.5(CEP128):c.3046A>G (p.Thr1016Ala)	CEP128 (T1016A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142532	NM_152446.5(CEP128):c.3043G>A (p.Asp1015Asn)	CEP128 (D1015N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 722985	NM_152446.5(CEP128):c.2959-5T>C	CEP128	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3142531	NM_152446.5(CEP128):c.2951A>C (p.Asp984Ala)	CEP128 (D984A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142530	NM_152446.5(CEP128):c.2881A>G (p.Ser961Gly)	CEP128 (S961G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512907	NM_152446.5(CEP128):c.2861G>A (p.Arg954His)	CEP128 (R954H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518949	NM_152446.5(CEP128):c.2819A>G (p.Glu940Gly)	CEP128 (E940G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 155428	GRCh38/hg38 14q31.1(chr14:80621095-80870127)x1	CEP128, LOC132090280 +1 more	Copy number loss	See cases	GUncertain significance
Select item 152820	GRCh38/hg38 14q31.1(chr14:80627888-80771597)x1	CEP128, LOC132090280 +1 more	Copy number loss	See cases	GUncertain significance
Select item 3142529	NM_152446.5(CEP128):c.2784T>A (p.Asp928Glu)	CEP128 (D928E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2596327	NM_152446.5(CEP128):c.2759T>C (p.Ile920Thr)	CEP128 (I920T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142528	NM_152446.5(CEP128):c.2741A>G (p.Gln914Arg)	CEP128 (Q914R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519591	NM_152446.5(CEP128):c.2669A>G (p.Asn890Ser)	CEP128 (N890S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2614550	NM_152446.5(CEP128):c.2642T>C (p.Leu881Pro)	CEP128 (L881P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612450	NM_152446.5(CEP128):c.2587C>T (p.Pro863Ser)	CEP128 (P863S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142527	NM_152446.5(CEP128):c.2555T>C (p.Val852Ala)	CEP128 (V852A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142526	NM_152446.5(CEP128):c.2516G>T (p.Cys839Phe)	CEP128 (C839F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473781	NM_152446.5(CEP128):c.2359G>A (p.Asp787Asn)	CEP128 (D787N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142525	NM_152446.5(CEP128):c.2267A>T (p.Lys756Met)	CEP128 (K756M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608731	NM_152446.5(CEP128):c.2255G>A (p.Gly752Asp)	CEP128 (G752D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362919	NM_152446.5(CEP128):c.2252G>A (p.Arg751His)	CEP128 (R751H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142524	NM_152446.5(CEP128):c.2138A>G (p.Gln713Arg)	CEP128 (Q713R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142523	NM_152446.5(CEP128):c.2044A>C (p.Ile682Leu)	CEP128 (I682L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252868	NM_152446.5(CEP128):c.1874A>G (p.Gln625Arg)	CEP128 (Q625R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265997	NM_152446.5(CEP128):c.1837G>A (p.Glu613Lys)	CEP128 (E613K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523957	NM_152446.5(CEP128):c.1827A>C (p.Lys609Asn)	CEP128 (K609N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368670	NM_152446.5(CEP128):c.1817A>T (p.Lys606Ile)	CEP128 (K606I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253426	NM_152446.5(CEP128):c.1721A>C (p.Gln574Pro)	CEP128 (Q574P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600746	NM_152446.5(CEP128):c.1710T>G (p.Ile570Met)	CEP128 (I570M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285640	NM_152446.5(CEP128):c.1702C>G (p.Arg568Gly)	CEP128 (R568G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265993	NM_152446.5(CEP128):c.1657C>T (p.Arg553Cys)	CEP128 (R553C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324899	NM_152446.5(CEP128):c.1610A>G (p.Gln537Arg)	CEP128 (Q537R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604350	NM_152446.5(CEP128):c.1604C>T (p.Ala535Val)	CEP128 (A535V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604349	NM_152446.5(CEP128):c.1603G>A (p.Ala535Thr)	CEP128 (A535T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403449	NM_152446.5(CEP128):c.1595T>C (p.Leu532Pro)	CEP128 (L532P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142521	NM_152446.5(CEP128):c.1508C>T (p.Ala503Val)	CEP128 (A503V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142520	NM_152446.5(CEP128):c.1472G>A (p.Arg491Lys)	CEP128 (R491K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596335	NM_152446.5(CEP128):c.1399C>A (p.Gln467Lys)	CEP128 (Q467K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456994	NM_152446.5(CEP128):c.1378C>T (p.Arg460Trp)	CEP128 (R460W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601754	NM_152446.5(CEP128):c.1372G>A (p.Ala458Thr)	CEP128 (A458T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719368	NM_152446.5(CEP128):c.1328A>G (p.Gln443Arg)	CEP128 (Q443R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3142519	NM_152446.5(CEP128):c.1318G>A (p.Ala440Thr)	CEP128 (A440T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343802	NM_152446.5(CEP128):c.1310G>A (p.Arg437His)	CEP128 (R437H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3265998	NM_152446.5(CEP128):c.1232A>G (p.Asn411Ser)	CEP128 (N411S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465323	NM_152446.5(CEP128):c.1228G>C (p.Glu410Gln)	CEP128 (E410Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550665	NM_152446.5(CEP128):c.1195G>A (p.Ala399Thr)	CEP128 (A399T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592207	NM_152446.5(CEP128):c.1165G>C (p.Glu389Gln)	CEP128 (E389Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410915	NM_152446.5(CEP128):c.1112A>G (p.Gln371Arg)	CEP128 (Q371R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142517	NM_152446.5(CEP128):c.1085A>G (p.Glu362Gly)	CEP128 (E362G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142516	NM_152446.5(CEP128):c.1066C>T (p.Arg356Trp)	CEP128 (R356W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3250523	NM_152446.5(CEP128):c.1061T>C (p.Val354Ala)	CEP128 (V354A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2619732	NM_152446.5(CEP128):c.1060G>T (p.Val354Phe)	CEP128 (V354F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776851	NM_152446.5(CEP128):c.951G>A (p.Thr317=)	CEP128	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3142542	NM_152446.5(CEP128):c.950C>T (p.Thr317Met)	CEP128 (T317M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2273121	NM_152446.5(CEP128):c.905G>A (p.Arg302Gln)	CEP128 (R302Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466973	NM_152446.5(CEP128):c.790G>A (p.Asp264Asn)	CEP128 (D264N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463204	NM_152446.5(CEP128):c.758A>C (p.Gln253Pro)	CEP128 (Q253P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321798	NM_152446.5(CEP128):c.706G>C (p.Glu236Gln)	CEP128 (E236Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142539	NM_152446.5(CEP128):c.694C>T (p.Arg232Cys)	CEP128 (R232C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326256	NM_152446.5(CEP128):c.656G>A (p.Arg219Gln)	CEP128 (R219Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618197	NM_152446.5(CEP128):c.641A>G (p.Glu214Gly)	CEP128 (E214G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618708	NM_152446.5(CEP128):c.622A>G (p.Asn208Asp)	CEP128 (N208D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142538	NM_152446.5(CEP128):c.515G>A (p.Ser172Asn)	CEP128 (S172N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265991	NM_152446.5(CEP128):c.449G>T (p.Arg150Leu)	CEP128 (R150L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265990	NM_152446.5(CEP128):c.448C>T (p.Arg150Trp)	CEP128 (R150W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142537	NM_152446.5(CEP128):c.443G>A (p.Gly148Asp)	CEP128 (G148D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142536	NM_152446.5(CEP128):c.404G>A (p.Gly135Glu)	CEP128 (G135E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542055	NM_152446.5(CEP128):c.371A>G (p.His124Arg)	CEP128 (H124R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2392345	NM_152446.5(CEP128):c.370C>G (p.His124Asp)	CEP128 (H124D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142522	NM_152446.5(CEP128):c.191G>A (p.Arg64Gln)	CEP128 (R64Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3265992	NM_152446.5(CEP128):c.158G>A (p.Arg53Gln)	CEP128 (R53Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142541	NM_152446.5(CEP128):c.74C>T (p.Thr25Met)	CEP128 (T25M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409447	NM_152446.5(CEP128):c.34C>T (p.Arg12Cys)	CEP128 (R12C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 885227	NM_000369.2(TSHR):c.-166C>T	CEP128, TSHR	Single nucleotide variant	Familial hyperthyroidism due to mutations in TSH receptor +1 more	GUncertain significance
Select item 885228	NM_000369.2(TSHR):c.-102C>T	TSHR, CEP128	Single nucleotide variant	Hypothyroidism due to TSH receptor mutations +1 more	GUncertain significance
Select item 314689	NM_000369.5(TSHR):c.-60G>A	TSHR, CEP128	Single nucleotide variant (5 prime UTR variant)	Familial hyperthyroidism due to mutations in TSH receptor +1 more	GConflicting classifications of pathogenicity
Select item 3032261	NM_000369.5(TSHR):c.-6T>A	CEP128, TSHR	Single nucleotide variant (5 prime UTR variant)	TSHR-related disorder	GLikely benign
Select item 3329578	NM_000369.5(TSHR):c.13G>A (p.Asp5Asn)	CEP128, TSHR (D5N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 631719	NM_000369.5(TSHR):c.20_23dup (p.Gln8fs)	CEP128, TSHR (Q8fs)	Duplication (frameshift variant)	TSHR-related disorder	GUncertain significance
Select item 2770278	NM_000369.5(TSHR):c.22C>T (p.Gln8Ter)	CEP128, TSHR (Q8*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2890155	NM_000369.5(TSHR):c.51G>A (p.Arg17=)	CEP128, TSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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