CLUH[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	ABR, ABR-AS1 +224 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	MIR22HG, MIR3183 +464 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	ABR, ABR-AS1 +652 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	LOC130059866, LOC130059867 +499 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC130060025, LOC130060026 +458 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	HIC1, INPP5K +303 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	YWHAE, ZBTB4 +605 more	Copy number gain	See cases	GPathogenic
Select item 57265	GRCh38/hg38 17p13.3(chr17:198748-3102332)x1	ABR, ABR-AS1 +217 more	Copy number loss	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059934, LOC130059935 +243 more	Copy number loss	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	ABR, ABR-AS1 +352 more	Copy number loss	See cases	GPathogenic
Select item 58671	GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3	CCDC92B, CLUH +164 more	Copy number gain	See cases	GPathogenic
Select item 148529	GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3	ASPA, CCDC92B +174 more	Copy number gain	See cases	GLikely pathogenic
Select item 149147	GRCh38/hg38 17p13.3(chr17:1742705-2952264)x1	CCDC92B, CLUH +122 more	Copy number loss	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	UBE2G1, USP6 +304 more	Copy number loss	See cases	GPathogenic
Select item 150948	GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3	ASPA, ATP2A3 +166 more	Copy number gain	See cases	GPathogenic
Select item 147865	GRCh38/hg38 17p13.3(chr17:2254635-2699329)x3	CLUH, LOC105371490 +38 more	Copy number gain	See cases	GUncertain significance
Select item 151248	GRCh38/hg38 17p13.3(chr17:2298292-2728190)x1	CCDC92B, CLUH +38 more	Copy number loss	See cases	GPathogenic
Select item 58677	GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3	ANKFY1, ASPA +126 more	Copy number gain	See cases	GPathogenic
Select item 154132	GRCh38/hg38 17p13.3(chr17:2403263-2960737)x3	CCDC92B, CLUH +24 more	Copy number gain	See cases	GLikely pathogenic
Select item 145988	GRCh38/hg38 17p13.3(chr17:2414781-2722552)x3	CCDC92B, CLUH +17 more	Copy number gain	See cases	GPathogenic
Select item 60097	GRCh38/hg38 17p13.3(chr17:2452259-2691244)x3	CLUH, LOC105371490 +11 more	Copy number gain	See cases	GUncertain significance
Select item 59562	GRCh38/hg38 17p13.3-13.2(chr17:2527510-3467165)x1	CCDC92B, CLUH +36 more	Copy number loss	See cases	GPathogenic
Select item 146397	GRCh38/hg38 17p13.3(chr17:2581219-2767565)x1	CCDC92B, CLUH +13 more	Copy number loss	See cases	GPathogenic
Select item 983494	NC_000017.11:g.2688360_2784321del	CCDC92B, CLUH +10 more	Deletion	Chromosome 15q11.2 deletion syndrome	GLikely pathogenic
Select item 2548093	NM_001366661.1(CLUH):c.4025C>T (p.Pro1342Leu)	CLUH (P1342L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291562	NM_001366661.1(CLUH):c.3988G>A (p.Gly1330Arg)	CLUH (G1330R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495836	NM_001366661.1(CLUH):c.3959C>T (p.Ala1320Val)	CLUH (A1281V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550473	NM_001366661.1(CLUH):c.3873C>A (p.Asp1291Glu)	CLUH (D1252E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784665	NM_001366661.1(CLUH):c.3863+8C>T	CLUH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2561694	NM_001366661.1(CLUH):c.3805A>G (p.Met1269Val)	CLUH (M1268V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313270	NM_001366661.1(CLUH):c.3784C>T (p.Leu1262Phe)	CLUH (L1223F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727262	NM_001366661.1(CLUH):c.3684A>G (p.Glu1228=)	CLUH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 279580	NM_001366661.1(CLUH):c.3664G>C (p.Asp1222His)	CLUH (D1183H +2 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1	GUncertain significance
Select item 2225971	NM_001366661.1(CLUH):c.3631G>A (p.Gly1211Ser)	CLUH (G1172S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340799	NM_001366661.1(CLUH):c.3430C>G (p.Leu1144Val)	CLUH (L1143V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378262	NM_001366661.1(CLUH):c.3411A>T (p.Glu1137Asp)	CLUH (E1137D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273131	NM_001366661.1(CLUH):c.3188G>A (p.Arg1063His)	CLUH (R1024H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549204	NM_001366661.1(CLUH):c.3029T>C (p.Val1010Ala)	CLUH (V1009A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383981	NM_001366661.1(CLUH):c.2998G>A (p.Val1000Met)	CLUH (V1000M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336333	NM_001366661.1(CLUH):c.2995G>T (p.Asp999Tyr)	CLUH (D999Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401749	NM_001366661.1(CLUH):c.2877G>T (p.Glu959Asp)	CLUH (E958D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519560	NM_001366661.1(CLUH):c.2842G>A (p.Asp948Asn)	CLUH (D948N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329014	NM_001366661.1(CLUH):c.2766C>G (p.Asn922Lys)	CLUH (N922K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320197	NM_001366661.1(CLUH):c.2725A>C (p.Asn909His)	CLUH (N870H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467668	NM_001366661.1(CLUH):c.2699C>A (p.Ala900Asp)	CLUH (A861D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468394	NM_001366661.1(CLUH):c.2698G>A (p.Ala900Thr)	CLUH (A861T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205030	NM_001366661.1(CLUH):c.2521C>T (p.Arg841Cys)	CLUH (R802C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402185	NM_001366661.1(CLUH):c.2516C>T (p.Pro839Leu)	CLUH (P800L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377740	NM_001366661.1(CLUH):c.2510G>A (p.Arg837Gln)	CLUH (R836Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357029	NM_001366661.1(CLUH):c.2482C>G (p.Leu828Val)	CLUH (L827V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534937	NM_001366661.1(CLUH):c.2456G>A (p.Arg819His)	CLUH (R780H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599651	NM_001366661.1(CLUH):c.2425G>T (p.Val809Leu)	CLUH (V770L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412229	NM_001366661.1(CLUH):c.2404A>T (p.Met802Leu)	CLUH (M802L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546791	NM_001366661.1(CLUH):c.2368C>G (p.Leu790Val)	CLUH (L789V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 711992	NM_001366661.1(CLUH):c.2291-6C>T	CLUH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2516266	NM_001366661.1(CLUH):c.2252C>T (p.Ala751Val)	CLUH (A712V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229363	NM_001366661.1(CLUH):c.2233G>A (p.Gly745Ser)	CLUH (G744S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297374	NM_001366661.1(CLUH):c.2203G>C (p.Glu735Gln)	CLUH (E735Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359093	NM_001366661.1(CLUH):c.2143G>A (p.Val715Met)	CLUH (V677M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326073	NM_001366661.1(CLUH):c.2135T>A (p.Leu712Gln)	CLUH (L674Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492555	NM_001366661.1(CLUH):c.2131G>A (p.Gly711Ser)	CLUH (G673S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 737506	NM_001366661.1(CLUH):c.2100G>A (p.Ala700=)	CLUH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2478672	NM_001366661.1(CLUH):c.2050G>A (p.Gly684Ser)	CLUH (G646S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 673336	NM_001366661.1(CLUH):c.2012C>T (p.Ala671Val)	CLUH (A633V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 680425	NM_001366661.1(CLUH):c.1962-7dup	CLUH	Duplication (intron variant)	not provided	GLikely benign
Select item 2647225	NM_001366661.1(CLUH):c.1890C>T (p.Gly630=)	CLUH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2597640	NM_001366661.1(CLUH):c.1855G>A (p.Gly619Ser)	CLUH (G581S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541570	NM_001366661.1(CLUH):c.1826C>T (p.Pro609Leu)	CLUH (P609L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545605	NM_001366661.1(CLUH):c.1682G>A (p.Arg561His)	CLUH (R523H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310879	NM_001366661.1(CLUH):c.1612G>A (p.Val538Ile)	CLUH (V500I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465255	NM_001366661.1(CLUH):c.1595G>A (p.Arg532Gln)	CLUH (R532Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619975	NM_001366661.1(CLUH):c.1593G>C (p.Glu531Asp)	CLUH (E493D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250385	NM_001366661.1(CLUH):c.1553A>G (p.Tyr518Cys)	CLUH (Y480C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339783	NM_001366661.1(CLUH):c.1429T>G (p.Phe477Val)	CLUH (F477V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290861	NM_001366661.1(CLUH):c.1380C>A (p.Asn460Lys)	CLUH (N460K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647226	NM_001366661.1(CLUH):c.1267-7C>T	CLUH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2204455	NM_001366661.1(CLUH):c.1202C>T (p.Thr401Met)	CLUH (T363M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316957	NM_001366661.1(CLUH):c.1129G>A (p.Ala377Thr)	CLUH (A377T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727263	NM_001366661.1(CLUH):c.1128C>T (p.Asp376=)	CLUH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2368478	NM_001366661.1(CLUH):c.1094C>T (p.Ala365Val)	CLUH (A365V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340068	NM_001366661.1(CLUH):c.1060C>T (p.Pro354Ser)	CLUH (P354S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647227	NM_001366661.1(CLUH):c.846C>T (p.Ala282=)	CLUH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2479803	NM_001366661.1(CLUH):c.814G>A (p.Gly272Arg)	CLUH (G234R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493728	NM_001366661.1(CLUH):c.794C>T (p.Pro265Leu)	CLUH (P227L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530937	NM_001366661.1(CLUH):c.773T>C (p.Met258Thr)	CLUH (M220T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777086	NM_001366661.1(CLUH):c.603C>T (p.Thr201=)	CLUH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2491270	NM_001366661.1(CLUH):c.517G>A (p.Val173Ile)	CLUH (V135I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308586	NM_001366661.1(CLUH):c.463C>G (p.Arg155Gly)	CLUH (R117G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366060	NM_001366661.1(CLUH):c.310C>T (p.Pro104Ser)	CLUH (P66S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 788314	NM_001366661.1(CLUH):c.309C>T (p.Ser103=)	CLUH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2220831	NM_001366661.1(CLUH):c.223G>A (p.Gly75Ser)	CLUH (G37S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396121	NM_001366661.1(CLUH):c.206C>T (p.Pro69Leu)	CLUH (P69L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063534	GRCh37/hg19 17p13.3(chr17:2475401-2725586)x3	CLUH, PAFAH1B1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3063527	GRCh37/hg19 17p13.3(chr17:1505119-3010963)x1	CLUH, DPH1 +26 more	Copy number loss	not specified	GPathogenic
Select item 3063526	GRCh37/hg19 17p13.3(chr17:2416420-3023516)x3	CLUH, OR1D2 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic

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