23108[Gene ID] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 120

<< 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 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 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 3312730	NM_015085.5(RAP1GAP2):c.35G>A (p.Gly12Asp)	RAP1GAP2 (G12D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 148240	GRCh38/hg38 17p13.3(chr17:2842174-3102332)x1	LOC101927911, LOC126862462 +6 more	Copy number loss	See cases	GLikely benign
Select item 3312727	NM_015085.5(RAP1GAP2):c.109G>T (p.Ala37Ser)	RAP1GAP2 (A37S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459450	NM_015085.5(RAP1GAP2):c.110C>T (p.Ala37Val)	RAP1GAP2 (A18V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3151496	NM_015085.5(RAP1GAP2):c.128C>T (p.Pro43Leu)	RAP1GAP2 (P52L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154828	GRCh38/hg38 17p13.3-13.2(chr17:2922729-3436438)x3	LOC100288728, LOC101927911 +16 more	Copy number gain	See cases	GPathogenic
Select item 2258048	NM_015085.5(RAP1GAP2):c.250G>A (p.Asp84Asn)	LOC101927911, RAP1GAP2 (D125N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151504	NM_015085.5(RAP1GAP2):c.262T>C (p.Tyr88His)	LOC101927911, RAP1GAP2 (Y97H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312732	NM_015085.5(RAP1GAP2):c.299C>G (p.Pro100Arg)	LOC101927911, RAP1GAP2 (P100R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254702	NM_015085.5(RAP1GAP2):c.332G>A (p.Gly111Asp)	LOC101927911, RAP1GAP2 (G120D +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2556187	NM_015085.5(RAP1GAP2):c.343G>A (p.Glu115Lys)	LOC101927911, RAP1GAP2 (E156K +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2404554	NM_015085.5(RAP1GAP2):c.362G>A (p.Gly121Asp)	LOC101927911, RAP1GAP2 (G162D +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2293753	NM_015085.5(RAP1GAP2):c.373T>C (p.Ser125Pro)	LOC101927911, RAP1GAP2 (S106P +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2395932	NM_015085.5(RAP1GAP2):c.547G>A (p.Val183Ile)	LOC101927911, RAP1GAP2 (V183I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3151506	NM_015085.5(RAP1GAP2):c.613G>A (p.Val205Ile)	RAP1GAP2 (V214I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768819	NM_015085.5(RAP1GAP2):c.623G>A (p.Arg208Gln)	RAP1GAP2 (R193Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2288384	NM_015085.5(RAP1GAP2):c.710A>G (p.Asn237Ser)	RAP1GAP2 (N246S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222155	NM_015085.5(RAP1GAP2):c.728A>G (p.Lys243Arg)	RAP1GAP2 (K228R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151507	NM_015085.5(RAP1GAP2):c.940C>G (p.His314Asp)	RAP1GAP2 (H299D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312728	NM_015085.5(RAP1GAP2):c.943G>A (p.Gly315Arg)	RAP1GAP2 (G356R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205759	NM_015085.5(RAP1GAP2):c.1003G>A (p.Val335Ile)	RAP1GAP2 (V316I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269806	NM_015085.5(RAP1GAP2):c.1124T>C (p.Met375Thr)	RAP1GAP2 (M416T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234698	NM_015085.5(RAP1GAP2):c.1140C>A (p.Phe380Leu)	RAP1GAP2 (F380L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151494	NM_015085.5(RAP1GAP2):c.1159G>A (p.Val387Met)	RAP1GAP2 (V368M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325114	NM_015085.5(RAP1GAP2):c.1217G>A (p.Arg406Gln)	RAP1GAP2 (R387Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262871	NM_015085.5(RAP1GAP2):c.1261G>A (p.Val421Ile)	RAP1GAP2 (V421I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151495	NM_015085.5(RAP1GAP2):c.1277C>T (p.Pro426Leu)	RAP1GAP2 (P426L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270228	NM_015085.5(RAP1GAP2):c.1324G>T (p.Ala442Ser)	RAP1GAP2 (A483S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151497	NM_015085.5(RAP1GAP2):c.1348G>A (p.Ala450Thr)	RAP1GAP2 (A435T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479744	NM_015085.5(RAP1GAP2):c.1397A>G (p.Asp466Gly)	RAP1GAP2 (D447G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312777	NM_015085.5(RAP1GAP2):c.1407C>G (p.His469Gln)	RAP1GAP2 (H450Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783747	NM_015085.5(RAP1GAP2):c.1407C>T (p.His469=)	RAP1GAP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3151498	NM_015085.5(RAP1GAP2):c.1408G>A (p.Ala470Thr)	RAP1GAP2 (A455T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610022	NM_015085.5(RAP1GAP2):c.1447G>T (p.Asp483Tyr)	RAP1GAP2 (D464Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747990	NM_015085.5(RAP1GAP2):c.1494+9G>C	RAP1GAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2492572	NM_015085.5(RAP1GAP2):c.1504C>T (p.Arg502Cys)	RAP1GAP2 (R502C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312731	NM_015085.5(RAP1GAP2):c.1576A>G (p.Ser526Gly)	RAP1GAP2 (S511G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388239	NM_015085.5(RAP1GAP2):c.1652C>T (p.Thr551Met)	RAP1GAP2 (T592M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151499	NM_015085.5(RAP1GAP2):c.1706G>A (p.Arg569His)	RAP1GAP2 (R569H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312729	NM_015085.5(RAP1GAP2):c.1873A>C (p.Met625Leu)	RAP1GAP2 (M606L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366614	NM_015085.5(RAP1GAP2):c.1894C>T (p.Arg632Cys)	RAP1GAP2 (R632C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151500	NM_015085.5(RAP1GAP2):c.1895G>A (p.Arg632His)	RAP1GAP2 (R613H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151501	NM_015085.5(RAP1GAP2):c.1930G>A (p.Val644Ile)	RAP1GAP2 (V625I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151502	NM_015085.5(RAP1GAP2):c.1991C>T (p.Pro664Leu)	RAP1GAP2 (P645L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328267	NM_015085.5(RAP1GAP2):c.2074G>A (p.Ala692Thr)	RAP1GAP2 (A677T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277924	NM_015085.5(RAP1GAP2):c.2114A>G (p.Lys705Arg)	RAP1GAP2 (K714R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494197	NM_015085.5(RAP1GAP2):c.2129C>A (p.Pro710Gln)	RAP1GAP2 (P751Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614007	NM_015085.5(RAP1GAP2):c.2135C>T (p.Ser712Leu)	RAP1GAP2 (S697L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151503	NM_015085.5(RAP1GAP2):c.2143A>C (p.Lys715Gln)	RAP1GAP2 (K696Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356246	NM_015085.5(RAP1GAP2):c.2149C>T (p.Arg717Cys)	RAP1GAP2 (R717C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339962	NM_015085.5(RAP1GAP2):c.2153T>G (p.Phe718Cys)	RAP1GAP2 (F699C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 60099	GRCh38/hg38 17p13.3-13.2(chr17:3036729-3684667)x3	ASPA, CTNS +33 more	Copy number gain	See cases	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	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 3063494	GRCh37/hg19 17p13.3-13.2(chr17:2674657-3484368)x3	ASPA, LOC100288728 +14 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
Select item 2685594	GRCh37/hg19 17p13.3-13.2(chr17:2433587-3484368)x1	ASPA, CLUH +16 more	Copy number loss	not provided	GPathogenic
Select item 2685590	GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1	ABR, ASPA +57 more	Copy number loss	not provided	GPathogenic
Select item 2684833	GRCh37/hg19 17p13.3(chr17:2591211-2944648)x3	CLUH, RAP1GAP2	Copy number gain	not provided	GUncertain significance
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 1807811	GRCh37/hg19 17p13.3(chr17:2161424-2825460)x1	CLUH, METTL16 +7 more	Copy number loss	not provided	GPathogenic
Select item 1807785	GRCh37/hg19 17p13.3-13.2(chr17:1095592-3484368)x3	ASPA, BHLHA9 +46 more	Copy number gain	not provided	GPathogenic
Select item 1403973	NC_000017.10:g.(?_2541583)_(3819519_?)del	ASPA, CAMKK1 +26 more	Deletion	not provided	GPathogenic
Select item 1340916	GRCh37/hg19 17p13.3-13.2(chr17:2646815-3698838)x3	ASPA, CTNS +21 more	Copy number gain	not provided	GUncertain significance
Select item 1340672	GRCh37/hg19 17p13.3-13.2(chr17:2809266-3424183)x3	ASPA, LOC100288728 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1180511	GRCh37/hg19 17p13.3-13.2(chr17:2313096-3735525)x1	OR1G1, OR3A1 +25 more	Copy number loss	not provided	GPathogenic
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	ABR, ALOX15 +115 more	Copy number loss	See cases	GPathogenic
Select item 815889	GRCh37/hg19 17p13.3(chr17:2416838-2784745)x1	RAP1GAP2, PAFAH1B1 +1 more	Copy number loss	not provided	GPathogenic
Select item 815888	GRCh37/hg19 17p13.3(chr17:2325226-2808483)x1	RAP1GAP2, CLUH +2 more	Copy number loss	not provided	GPathogenic
Select item 687701	GRCh37/hg19 17p13.3(chr17:1501331-2832123)x3	CLUH, DPH1 +24 more	Copy number gain	not provided	GPathogenic
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	ABR, ALOX15 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564388	GRCh37/hg19 17p13.3(chr17:2834635-3206175)x3	OR1G1, OR1A2 +7 more	Copy number gain	not provided	GLikely benign
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 523262	GRCh37/hg19 17p13.3-13.2(chr17:2339561-3447162)	ASPA, OR3A1 +16 more	Copy number loss	Lissencephaly	GPathogenic

<< First< Prev

Page of 2