ANKFY1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 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 58677	GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3	ANKFY1, ASPA +126 more	Copy number gain	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 151168	GRCh38/hg38 17p13.2(chr17:3782655-4472701)x3	ANKFY1, ATP2A3 +50 more	Copy number gain	See cases	GUncertain significance
Select item 153733	GRCh38/hg38 17p13.2(chr17:3928523-4637233)x3	ALOX15, ANKFY1 +42 more	Copy number gain	See cases	GLikely benign
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 145539	GRCh38/hg38 17p13.2(chr17:4044302-4616762)x3	ANKFY1, CYB5D2 +28 more	Copy number gain	See cases	GUncertain significance
Select item 144280	GRCh38/hg38 17p13.2(chr17:4087381-4265640)x3	ANKFY1, CYB5D2 +7 more	Copy number gain	See cases	GUncertain significance
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +141 more	Copy number gain	See cases	GLikely benign
Select item 154947	GRCh38/hg38 17p13.2(chr17:4141725-4873241)x3	ALOX15, ANKFY1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 148440	GRCh38/hg38 17p13.2(chr17:4141725-4778120)x1	ALOX15, ANKFY1 +57 more	Copy number loss	See cases	GUncertain significance
Select item 60101	GRCh38/hg38 17p13.2(chr17:4141725-4472701)x3	ANKFY1, CYB5D2 +13 more	Copy number gain	See cases	GUncertain significance
Select item 3046132	NM_001330063.2(ANKFY1):c.*10C>T	ANKFY1	Single nucleotide variant (3 prime UTR variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 3120893	NM_001330063.2(ANKFY1):c.3469A>G (p.Asn1157Asp)	ANKFY1 (N1199D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380347	NM_001330063.2(ANKFY1):c.3433A>G (p.Ile1145Val)	ANKFY1 (I1145V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120881	NM_001330063.2(ANKFY1):c.3395T>G (p.Leu1132Arg)	ANKFY1 (L1133R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1258132	NM_001330063.2(ANKFY1):c.3378-40G>A	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229739	NM_001330063.2(ANKFY1):c.3378-97C>G	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249625	NM_001330063.2(ANKFY1):c.3378-121G>C	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3295801	NM_001330063.2(ANKFY1):c.3328T>G (p.Cys1110Gly)	ANKFY1 (C1110G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480145	NM_001330063.2(ANKFY1):c.3314G>C (p.Cys1105Ser)	ANKFY1 (C1105S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464053	NM_001330063.2(ANKFY1):c.3295T>C (p.Ser1099Pro)	ANKFY1 (S1099P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1259674	NM_001330063.2(ANKFY1):c.3287-125C>T	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285872	NM_001330063.2(ANKFY1):c.3287-179C>G	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2215919	NM_001330063.2(ANKFY1):c.3217A>G (p.Asn1073Asp)	ANKFY1 (N1074D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120868	NM_001330063.2(ANKFY1):c.3184G>A (p.Ala1062Thr)	ANKFY1 (A1062T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3047657	NM_001330063.2(ANKFY1):c.3171C>T (p.Ala1057=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 3055031	NM_001330063.2(ANKFY1):c.3140-9G>T	ANKFY1	Single nucleotide variant (intron variant)	ANKFY1-related disorder	GLikely benign
Select item 1288285	NM_001330063.2(ANKFY1):c.3140-106T>G	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2507742	NM_001330063.2(ANKFY1):c.3124G>A (p.Ala1042Thr)	ANKFY1 (A1043T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120859	NM_001330063.2(ANKFY1):c.3071T>C (p.Ile1024Thr)	ANKFY1 (I1066T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474854	NM_001330063.2(ANKFY1):c.3025C>G (p.Pro1009Ala)	ANKFY1 (P1009A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3035702	NM_001330063.2(ANKFY1):c.3024A>C (p.Ser1008=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 1241236	NM_001330063.2(ANKFY1):c.3014+34G>A	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3058380	NM_001330063.2(ANKFY1):c.2997C>G (p.Ala999=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 3043858	NM_001330063.2(ANKFY1):c.2997C>T (p.Ala999=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 781249	NM_001330063.2(ANKFY1):c.2994C>T (p.Asp998=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2258732	NM_001330063.2(ANKFY1):c.2982G>C (p.Glu994Asp)	ANKFY1 (E994D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120846	NM_001330063.2(ANKFY1):c.2969T>C (p.Val990Ala)	ANKFY1 (V990A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1280964	NM_001330063.2(ANKFY1):c.2923+207C>T	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2493481	NM_001330063.2(ANKFY1):c.2887G>A (p.Val963Met)	ANKFY1 (V1005M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120841	NM_001330063.2(ANKFY1):c.2788G>T (p.Ala930Ser)	ANKFY1 (A931S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3031176	NM_001330063.2(ANKFY1):c.2781T>C (p.Leu927=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 1263683	NM_001330063.2(ANKFY1):c.2776-134C>T	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3120839	NM_001330063.2(ANKFY1):c.2762T>C (p.Ile921Thr)	ANKFY1 (I921T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120836	NM_001330063.2(ANKFY1):c.2761A>G (p.Ile921Val)	ANKFY1 (I922V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213853	NM_001330063.2(ANKFY1):c.2683G>A (p.Ala895Thr)	ANKFY1 (A895T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1257665	NM_001330063.2(ANKFY1):c.2598+177C>T	ANKFY1, LOC126862466	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2204874	NM_001330063.2(ANKFY1):c.2588C>G (p.Ala863Gly)	ANKFY1, LOC126862466 (A905G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411949	NM_001330063.2(ANKFY1):c.2584G>A (p.Gly862Arg)	ANKFY1, LOC126862466 (G862R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3358592	NM_001330063.2(ANKFY1):c.2583C>T (p.Ser861=)	ANKFY1, LOC126862466	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 2647252	NM_001330063.2(ANKFY1):c.2559C>G (p.Ala853=)	ANKFY1, LOC126862466	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3120827	NM_001330063.2(ANKFY1):c.2498G>A (p.Arg833Gln)	ANKFY1, LOC126862466 (R833Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465513	NM_001330063.2(ANKFY1):c.2479G>A (p.Asp827Asn)	ANKFY1, LOC126862466 (D828N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591691	NM_001330063.2(ANKFY1):c.2446G>A (p.Gly816Ser)	ANKFY1, LOC126862466 (G816S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2561763	NM_001330063.2(ANKFY1):c.2425G>A (p.Val809Met)	ANKFY1, LOC126862466 (V810M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049397	NM_001330063.2(ANKFY1):c.2286A>G (p.Glu762=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 2519208	NM_001330063.2(ANKFY1):c.2279A>G (p.Asn760Ser)	ANKFY1 (N761S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296454	NM_001330063.2(ANKFY1):c.2266C>G (p.Gln756Glu)	ANKFY1 (Q756E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600730	NM_001330063.2(ANKFY1):c.2251G>A (p.Val751Met)	ANKFY1 (V793M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1278020	NM_001330063.2(ANKFY1):c.2241-48C>T	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231433	NM_001330063.2(ANKFY1):c.2241-70A>G	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182333	NM_001330063.2(ANKFY1):c.2181G>A (p.Thr727=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1272924	NM_001330063.2(ANKFY1):c.2122-150G>C	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268860	NM_001330063.2(ANKFY1):c.2121+154C>T	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2276232	NM_001330063.2(ANKFY1):c.2069C>T (p.Pro690Leu)	ANKFY1 (P691L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3046649	NM_001330063.2(ANKFY1):c.2030G>A (p.Arg677Gln)	ANKFY1 (R677Q +2 more)	Single nucleotide variant (missense variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 1266406	NM_001330063.2(ANKFY1):c.1953-190G>T	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2226957	NM_001330063.2(ANKFY1):c.1910G>A (p.Ser637Asn)	ANKFY1 (S637N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618056	NM_001330063.2(ANKFY1):c.1888A>G (p.Ile630Val)	ANKFY1 (I630V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120790	NM_001330063.2(ANKFY1):c.1882A>G (p.Met628Val)	ANKFY1 (M670V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3048184	NM_001330063.2(ANKFY1):c.1840G>A (p.Ala614Thr)	ANKFY1 (A614T +1 more)	Single nucleotide variant (missense variant +1 more)	ANKFY1-related disorder	GBenign
Select item 3042059	NM_001330063.2(ANKFY1):c.1809G>A (p.Thr603=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GBenign
Select item 2392802	NM_001330063.2(ANKFY1):c.1739C>T (p.Pro580Leu)	ANKFY1 (P580L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1240863	NM_001330063.2(ANKFY1):c.1699+199G>A	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3120780	NM_001330063.2(ANKFY1):c.1684A>G (p.Ile562Val)	ANKFY1 (I562V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554655	NM_001330063.2(ANKFY1):c.1681G>C (p.Val561Leu)	ANKFY1 (V603L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602006	NM_001330063.2(ANKFY1):c.1621G>A (p.Val541Ile)	ANKFY1 (V541I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3046690	NM_001330063.2(ANKFY1):c.1593C>A (p.Ala531=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 3120765	NM_001330063.2(ANKFY1):c.1543G>A (p.Ala515Thr)	ANKFY1 (A557T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120763	NM_001330063.2(ANKFY1):c.1528C>T (p.Leu510Phe)	ANKFY1 (L510F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1286402	NM_001330063.2(ANKFY1):c.1521G>A (p.Thr507=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2357319	NM_001330063.2(ANKFY1):c.1499G>A (p.Arg500Gln)	ANKFY1 (R542Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402064	NM_001330063.2(ANKFY1):c.1390C>T (p.Arg464Trp)	ANKFY1 (R464W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1261445	NM_001330063.2(ANKFY1):c.1373-164C>G	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276117	NM_001330063.2(ANKFY1):c.1373-194T>C	ANKFY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3051158	NM_001330063.2(ANKFY1):c.1372+9C>T	ANKFY1	Single nucleotide variant (intron variant)	ANKFY1-related disorder	GLikely benign
Select item 2212315	NM_001330063.2(ANKFY1):c.1367C>T (p.Ala456Val)	ANKFY1 (A498V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2600871	NM_001330063.2(ANKFY1):c.1346A>G (p.His449Arg)	ANKFY1 (H449R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3048693	NM_001330063.2(ANKFY1):c.1320A>C (p.Ala440=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign

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