ClinVar for Gene (Select 51479) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3351119	NM_001330063.2(ANKFY1):c.102C>T (p.Cys34=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 3345091	NM_001330063.2(ANKFY1):c.1136A>G (p.Asn379Ser)	ANKFY1 (N379S +1 more)	Single nucleotide variant (missense variant +1 more)	ANKFY1-related disorder	GUncertain significance
Select item 3295805	NM_001330063.2(ANKFY1):c.626T>C (p.Leu209Ser)	ANKFY1 (L209S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3295800	NM_001330063.2(ANKFY1):c.710A>G (p.Tyr237Cys)	ANKFY1 (Y279C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295798	NM_001330063.2(ANKFY1):c.1282G>A (p.Val428Met)	ANKFY1 (V428M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3120912	NM_001330063.2(ANKFY1):c.766G>A (p.Gly256Arg)	ANKFY1 (G298R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120909	NM_001330063.2(ANKFY1):c.753A>T (p.Glu251Asp)	ANKFY1 (E251D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120897	NM_001330063.2(ANKFY1):c.428A>G (p.Asn143Ser)	ANKFY1 (N185S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3120886	NM_001330063.2(ANKFY1):c.33G>T (p.Lys11Asn)	ANKFY1 (K11N +1 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 3120876	NM_001330063.2(ANKFY1):c.330T>G (p.Asn110Lys)	ANKFY1 (N152K +1 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 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 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 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 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 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 3120812	NM_001330063.2(ANKFY1):c.22A>C (p.Lys8Gln)	ANKFY1 (K8Q +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 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 3120771	NM_001330063.2(ANKFY1):c.158G>A (p.Arg53His)	ANKFY1 (R53H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3120756	NM_001330063.2(ANKFY1):c.141C>A (p.Ser47Arg)	ANKFY1 (S47R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120731	NM_001330063.2(ANKFY1):c.1297T>G (p.Ser433Ala)	ANKFY1 (S475A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120711	NM_001330063.2(ANKFY1):c.1004C>T (p.Ser335Leu)	ANKFY1 (S335L +1 more)	Single nucleotide variant (missense variant +1 more)	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 3061559	NM_001330063.2(ANKFY1):c.481C>T (p.Leu161=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
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 3056788	NM_001330063.2(ANKFY1):c.10+340_10+342del	ANKFY1	Deletion (intron variant)	ANKFY1-related disorder	GLikely benign
Select item 3055152	NM_001330063.2(ANKFY1):c.1172+4C>T	ANKFY1	Single nucleotide variant (intron variant)	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 3054399	NM_001330063.2(ANKFY1):c.828T>C (p.Val276=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 3054280	NM_001330063.2(ANKFY1):c.1065G>A (p.Gln355=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 3053888	NM_001330063.2(ANKFY1):c.117G>A (p.Ala39=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 3051966	NM_001330063.2(ANKFY1):c.300C>T (p.Ser100=)	ANKFY1	Single nucleotide variant (synonymous variant)	ANKFY1-related disorder	GLikely benign
Select item 3051158	NM_001330063.2(ANKFY1):c.1372+9C>T	ANKFY1	Single nucleotide variant (intron variant)	ANKFY1-related disorder	GLikely benign
Select item 3050938	NM_001330063.2(ANKFY1):c.10+297G>T	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
Select item 3049629	NM_001330063.2(ANKFY1):c.10+200C>A	ANKFY1	Single nucleotide variant (5 prime UTR variant +1 more)	ANKFY1-related disorder	GLikely benign
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 3048693	NM_001330063.2(ANKFY1):c.1320A>C (p.Ala440=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
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 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 3047552	NM_001330063.2(ANKFY1):c.10+8T>C	ANKFY1	Single nucleotide variant (intron variant)	ANKFY1-related disorder	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 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 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 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 3042059	NM_001330063.2(ANKFY1):c.1809G>A (p.Thr603=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GBenign
Select item 3040750	NM_001330063.2(ANKFY1):c.1104-4G>A	ANKFY1	Single nucleotide variant (intron variant)	ANKFY1-related disorder	GLikely benign
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 3032083	NM_001330063.2(ANKFY1):c.84G>A (p.Ala28=)	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	ANKFY1-related disorder	GLikely benign
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 2684834	GRCh37/hg19 17p13.2(chr17:4092369-4388334)x3	ANKFY1, SPNS3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2647253	NM_001330063.2(ANKFY1):c.10+316C>A	ANKFY1	Single nucleotide variant (synonymous variant +1 more)	not provided	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 2635662	NM_001330063.2(ANKFY1):c.484G>A (p.Val162Met)	ANKFY1 (V162M +1 more)	Single nucleotide variant (missense variant +1 more)	ANKFY1-related disorder	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 2614297	NM_001330063.2(ANKFY1):c.1139A>T (p.Glu380Val)	ANKFY1 (E422V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614296	NM_001330063.2(ANKFY1):c.1133G>C (p.Gly378Ala)	ANKFY1 (G378A +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 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 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 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 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 2570966	NM_001330063.2(ANKFY1):c.1123A>G (p.Ile375Val)	ANKFY1 (I375V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 2547823	NM_001330063.2(ANKFY1):c.9A>C (p.Glu3Asp)	ANKFY1 (E3D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527384	NM_001330063.2(ANKFY1):c.551A>G (p.Asn184Ser)	ANKFY1 (N184S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2518045	NM_001330063.2(ANKFY1):c.1123A>C (p.Ile375Leu)	ANKFY1 (I375L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515055	NM_001330063.2(ANKFY1):c.1115A>C (p.His372Pro)	ANKFY1 (H372P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513743	NM_001330063.2(ANKFY1):c.518C>T (p.Thr173Met)	ANKFY1 (T173M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 2483909	NM_001330063.2(ANKFY1):c.310T>A (p.Leu104Met)	ANKFY1 (L104M +1 more)	Single nucleotide variant (missense variant)	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 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 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 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 2457872	NM_001330063.2(ANKFY1):c.635A>G (p.Lys212Arg)	ANKFY1 (K254R +1 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 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 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 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 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 2328077	NM_001330063.2(ANKFY1):c.946A>C (p.Asn316His)	ANKFY1 (N316H +1 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 2293582	NM_001330063.2(ANKFY1):c.820A>G (p.Thr274Ala)	ANKFY1 (T274A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2264474	NM_001330063.2(ANKFY1):c.1069G>C (p.Gly357Arg)	ANKFY1 (G399R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261372	NM_001330063.2(ANKFY1):c.1311C>A (p.Asn437Lys)	ANKFY1 (N479K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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