FASTK[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	LOC129999653, LOC129999654 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	C7orf33, CALD1 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	LOC129999666, LOC129999667 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	TMEM140, TMEM176A +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC129999503, LOC129999504 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LINC00996, LINC01003 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	WDR86, WDR86-AS1 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	LOC129999526, LOC129999527 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	LOC129999649, LOC129999650 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	ABCB8, ABCF2 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999755, LOC129999756 +573 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	LOC105375556, LOC105375589 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	ABCB8, ABCF2 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	ABCB8, ABCF2 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	LOC126860247, LOC126860248 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	ABCB8, ABCF2 +329 more	Copy number gain	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 149569	GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3	ABCB8, ABCF2 +212 more	Copy number gain	See cases	GLikely pathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	LOC129999582, LOC129999583 +407 more	Copy number loss	See cases	GPathogenic
Select item 150864	GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3	ABCB8, ABCF2 +205 more	Copy number gain	See cases	GUncertain significance
Select item 57001	GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1	ABCB8, ABCF2 +191 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	LOC129999632, LOC129999633 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 2457481	NM_006712.5(FASTK):c.1628G>A (p.Arg543His)	FASTK (R402H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241692	NM_006712.5(FASTK):c.1475G>A (p.Arg492Gln)	FASTK (R492Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318765	NM_006712.5(FASTK):c.1411C>G (p.Arg471Gly)	FASTK (R330G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555955	NM_006712.5(FASTK):c.1333G>T (p.Val445Leu)	FASTK (V304L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247815	NM_006712.5(FASTK):c.1306G>A (p.Ala436Thr)	FASTK (A295T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272419	NM_006712.5(FASTK):c.1261G>A (p.Asp421Asn)	FASTK (D394N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263673	NM_006712.5(FASTK):c.1190G>C (p.Cys397Ser)	FASTK (C370S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328248	NM_006712.5(FASTK):c.1187G>A (p.Arg396His)	FASTK (R255H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341274	NM_006712.5(FASTK):c.1163A>C (p.Gln388Pro)	FASTK (Q247P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462789	NM_006712.5(FASTK):c.1157T>G (p.Phe386Cys)	FASTK (F359C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092953	NM_006712.5(FASTK):c.1048C>T (p.His350Tyr)	FASTK (H209Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320202	NM_006712.5(FASTK):c.1033A>G (p.Ile345Val)	FASTK (I318V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2294723	NM_006712.5(FASTK):c.985C>A (p.Pro329Thr)	FASTK (P329T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092958	NM_006712.5(FASTK):c.752G>A (p.Arg251Gln)	FASTK (R110Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092956	NM_006712.5(FASTK):c.583C>G (p.Pro195Ala)	FASTK (P54A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334520	NM_006712.5(FASTK):c.580C>A (p.Pro194Thr)	FASTK (P194T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588277	NM_006712.5(FASTK):c.565C>T (p.Pro189Ser)	FASTK (P189S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263798	NM_006712.5(FASTK):c.236C>G (p.Ala79Gly)	FASTK (A79G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092955	NM_006712.5(FASTK):c.170C>T (p.Pro57Leu)	FASTK (P23L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092952	NM_006712.5(FASTK):c.103A>T (p.Met35Leu)	FASTK (M1L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262299	NM_006712.5(FASTK):c.103A>G (p.Met35Val)	FASTK (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092957	NM_006712.5(FASTK):c.59C>G (p.Thr20Ser)	FASTK (T20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389866	NM_006712.5(FASTK):c.43C>T (p.Pro15Ser)	FASTK (P15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606417	NM_006712.5(FASTK):c.11C>G (p.Pro4Arg)	FASTK (P4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062962	GRCh37/hg19 7q36.1(chr7:148896264-150963866)x1	LOC100134040, LRRC61 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685275	GRCh37/hg19 7q36.1(chr7:148538593-150967829)x1	TMEM176B, ZNF425 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	C7orf33, CASP2 +125 more	Copy number loss	not provided	GPathogenic
Select item 2427458	NC_000007.13:g.(?_150307047)_(152613597_?)del	ASB10, ASIC3 +31 more	Deletion	not provided	GPathogenic
Select item 2426280	NC_000007.13:g.(?_150642453)_(151573705_?)del	ABCB8, ABCF2 +19 more	Deletion	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2425238	NC_000007.13:g.(?_150324807)_(152373164_?)dup	ABCB8, ABCF2 +30 more	Duplication	not provided	GUncertain significance
Select item 2425237	NC_000007.13:g.(?_150324807)_(152373164_?)del	ABCB8, ABCF2 +30 more	Deletion	not provided	GPathogenic
Select item 1807607	GRCh37/hg19 7q36.1(chr7:149332630-151498689)x1	ABCB8, ABCF2 +40 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1341986	GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1	ABCB8, ABCF2 +65 more	Copy number loss	not provided	GPathogenic
Select item 1341970	GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3	ABCB8, ABCF2 +80 more	Copy number gain	not provided	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1340734	GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3	ACTR3C, ABCB8 +75 more	Copy number gain	not provided	GPathogenic
Select item 1340055	GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1	ABCB8, ABCF2 +72 more	Copy number loss	not provided	GPathogenic
Select item 1330211	GRCh37/hg19 7q36.1(chr7:150745923-152373214)x1	ABCF2, AGAP3 +19 more	Copy number loss	Kleefstra syndrome 2	GPathogenic
Select item 1068862	NC_000007.13:g.(?_150642443)_(151385353_?)del	ATG9B, ABCB8 +19 more	Deletion	Long QT syndrome	GPathogenic
Select item 1027137	NC_000007.13:g.(?_150642453)_(152373165_?)dup	ASB10, ASIC3 +23 more	Duplication	Long QT syndrome	GUncertain significance
Select item 973042	GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3	ABCB8, ABCF2 +96 more	Copy number gain	not provided	Gnot provided
Select item 830594	NC_000007.13:g.(?_150642443)_(151385353_?)dup	ABCF2, ABCB8 +19 more	Duplication	Long QT syndrome	GUncertain significance
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815045	GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1	NOM1, NOS3 +80 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686874	GRCh37/hg19 7q36.1(chr7:149968222-152539376)x3	ABCB8, ABCF2 +40 more	Copy number gain	not provided	GUncertain significance
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 527120	NC_000007.13:g.(?_150642433)_(151573725_?)del	ASIC3, ASB10 +19 more	Deletion	Long QT syndrome	GPathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442595	GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1	ABCB8, ABCF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 442404	GRCh37/hg19 7q36.1-36.3(chr7:150553743-159119707)x3	ACTR3B, AGAP3 +43 more	Copy number gain	See cases	GLikely pathogenic
Select item 442236	GRCh37/hg19 7q36.1(chr7:148189771-150867270)x4	ABCB8, ACTR3C +46 more	Copy number gain	See cases	GUncertain significance
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic
Select item 393748	GRCh37/hg19 7q36.1-36.3(chr7:149261179-159075020)x3	ABCB8, ABCF2 +63 more	Copy number gain	See cases	GPathogenic

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