29094[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 170

<< First< Prev

Page of 2

	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	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 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	LOC130059869, LOC130059870 +243 more	Copy number loss	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 58671	GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3	INPP5K, CCDC92B +164 more	Copy number gain	See cases	GPathogenic
Select item 148529	GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3	LOC130059937, LOC130059938 +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	CAMKK1, CAMTA2 +303 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 3146157	NM_001366661.1(CLUH):c.4031C>T (p.Pro1344Leu)	CLUH (P1305L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548093	NM_001366661.1(CLUH):c.4025C>T (p.Pro1342Leu)	CLUH (P1342L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291562	NM_001366661.1(CLUH):c.3988G>A (p.Gly1330Arg)	CLUH (G1330R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495836	NM_001366661.1(CLUH):c.3959C>T (p.Ala1320Val)	CLUH (A1281V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550473	NM_001366661.1(CLUH):c.3873C>A (p.Asp1291Glu)	CLUH (D1252E +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2313270	NM_001366661.1(CLUH):c.3784C>T (p.Leu1262Phe)	CLUH (L1223F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146156	NM_001366661.1(CLUH):c.3769G>T (p.Ala1257Ser)	CLUH (A1218S +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 3146154	NM_001366661.1(CLUH):c.3622G>C (p.Glu1208Gln)	CLUH (E1169Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146153	NM_001366661.1(CLUH):c.3548A>G (p.Lys1183Arg)	CLUH (K1144R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340799	NM_001366661.1(CLUH):c.3430C>G (p.Leu1144Val)	CLUH (L1143V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378262	NM_001366661.1(CLUH):c.3411A>T (p.Glu1137Asp)	CLUH (E1137D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267937	NM_001366661.1(CLUH):c.3284C>T (p.Thr1095Ile)	CLUH (T1094I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3146152	NM_001366661.1(CLUH):c.3226G>A (p.Ala1076Thr)	CLUH (A1037T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273131	NM_001366661.1(CLUH):c.3188G>A (p.Arg1063His)	CLUH (R1024H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549204	NM_001366661.1(CLUH):c.3029T>C (p.Val1010Ala)	CLUH (V1009A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383981	NM_001366661.1(CLUH):c.2998G>A (p.Val1000Met)	CLUH (V1000M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336333	NM_001366661.1(CLUH):c.2995G>T (p.Asp999Tyr)	CLUH (D999Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401749	NM_001366661.1(CLUH):c.2877G>T (p.Glu959Asp)	CLUH (E958D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519560	NM_001366661.1(CLUH):c.2842G>A (p.Asp948Asn)	CLUH (D948N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329014	NM_001366661.1(CLUH):c.2766C>G (p.Asn922Lys)	CLUH (N922K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146151	NM_001366661.1(CLUH):c.2750C>T (p.Pro917Leu)	CLUH (P917L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320197	NM_001366661.1(CLUH):c.2725A>C (p.Asn909His)	CLUH (N870H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467668	NM_001366661.1(CLUH):c.2699C>A (p.Ala900Asp)	CLUH (A861D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468394	NM_001366661.1(CLUH):c.2698G>A (p.Ala900Thr)	CLUH (A861T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146150	NM_001366661.1(CLUH):c.2674C>T (p.Pro892Ser)	CLUH (P853S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146149	NM_001366661.1(CLUH):c.2585A>G (p.His862Arg)	CLUH (H861R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205030	NM_001366661.1(CLUH):c.2521C>T (p.Arg841Cys)	CLUH (R802C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402185	NM_001366661.1(CLUH):c.2516C>T (p.Pro839Leu)	CLUH (P800L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377740	NM_001366661.1(CLUH):c.2510G>A (p.Arg837Gln)	CLUH (R836Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146148	NM_001366661.1(CLUH):c.2494C>G (p.Leu832Val)	CLUH (L831V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357029	NM_001366661.1(CLUH):c.2482C>G (p.Leu828Val)	CLUH (L827V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146147	NM_001366661.1(CLUH):c.2477G>A (p.Arg826His)	CLUH (R826H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534937	NM_001366661.1(CLUH):c.2456G>A (p.Arg819His)	CLUH (R780H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146146	NM_001366661.1(CLUH):c.2455C>G (p.Arg819Gly)	CLUH (R818G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599651	NM_001366661.1(CLUH):c.2425G>T (p.Val809Leu)	CLUH (V770L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412229	NM_001366661.1(CLUH):c.2404A>T (p.Met802Leu)	CLUH (M802L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546791	NM_001366661.1(CLUH):c.2368C>G (p.Leu790Val)	CLUH (L789V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146144	NM_001366661.1(CLUH):c.2297G>A (p.Arg766His)	CLUH (R766H +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2229363	NM_001366661.1(CLUH):c.2233G>A (p.Gly745Ser)	CLUH (G744S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267938	NM_001366661.1(CLUH):c.2222G>T (p.Cys741Phe)	CLUH (C702F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146143	NM_001366661.1(CLUH):c.2219C>G (p.Ala740Gly)	CLUH (A739G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297374	NM_001366661.1(CLUH):c.2203G>C (p.Glu735Gln)	CLUH (E735Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146142	NM_001366661.1(CLUH):c.2170G>A (p.Ala724Thr)	CLUH (A724T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267936	NM_001366661.1(CLUH):c.2164A>G (p.Ile722Val)	CLUH (I722V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359093	NM_001366661.1(CLUH):c.2143G>A (p.Val715Met)	CLUH (V677M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326073	NM_001366661.1(CLUH):c.2135T>A (p.Leu712Gln)	CLUH (L674Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492555	NM_001366661.1(CLUH):c.2131G>A (p.Gly711Ser)	CLUH (G673S +1 more)	Single nucleotide variant (missense variant)	not specified	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 3146140	NM_001366661.1(CLUH):c.2084C>T (p.Pro695Leu)	CLUH (P695L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146139	NM_001366661.1(CLUH):c.2083C>A (p.Pro695Thr)	CLUH (P695T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267934	NM_001366661.1(CLUH):c.2075C>T (p.Ser692Phe)	CLUH (S654F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478672	NM_001366661.1(CLUH):c.2050G>A (p.Gly684Ser)	CLUH (G646S +1 more)	Single nucleotide variant (missense variant)	not specified	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 3267935	NM_001366661.1(CLUH):c.2002C>G (p.Gln668Glu)	CLUH (Q630E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 680425	NM_001366661.1(CLUH):c.1962-7dup	CLUH	Duplication (intron variant)	not provided	GLikely benign
Select item 3146138	NM_001366661.1(CLUH):c.1955A>G (p.Glu652Gly)	CLUH (E652G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146137	NM_001366661.1(CLUH):c.1939G>T (p.Val647Leu)	CLUH (V647L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647225	NM_001366661.1(CLUH):c.1890C>T (p.Gly630=)	CLUH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3146136	NM_001366661.1(CLUH):c.1882C>T (p.Arg628Cys)	CLUH (R590C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597640	NM_001366661.1(CLUH):c.1855G>A (p.Gly619Ser)	CLUH (G581S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541570	NM_001366661.1(CLUH):c.1826C>T (p.Pro609Leu)	CLUH (P609L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545605	NM_001366661.1(CLUH):c.1682G>A (p.Arg561His)	CLUH (R523H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267940	NM_001366661.1(CLUH):c.1660C>T (p.Arg554Trp)	CLUH (R516W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310879	NM_001366661.1(CLUH):c.1612G>A (p.Val538Ile)	CLUH (V500I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465255	NM_001366661.1(CLUH):c.1595G>A (p.Arg532Gln)	CLUH (R532Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619975	NM_001366661.1(CLUH):c.1593G>C (p.Glu531Asp)	CLUH (E493D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2