389549[geneid] - 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 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 more	Copy number loss	See cases	GPathogenic
Select item 145985	GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1	AASS, ANKRD7 +253 more	Copy number loss	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 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 148054	GRCh38/hg38 7q31.32(chr7:121461314-122882795)x1	AASS, CADPS2 +12 more	Copy number loss	See cases	GUncertain significance
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 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 1189418	NM_001024613.4(FEZF1):c.*269dup	FEZF1	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 2969458	NM_001024613.4(FEZF1):c.1422C>T (p.His474=)	FEZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602512	NM_001024613.4(FEZF1):c.1417G>A (p.Gly473Ser)	FEZF1 (G473S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324217	NM_001024613.4(FEZF1):c.1415A>G (p.Gln472Arg)	FEZF1 (Q472R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2175971	NM_001024613.4(FEZF1):c.1397T>G (p.Leu466Arg)	FEZF1 (L466R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2266618	NM_001024613.4(FEZF1):c.1393C>A (p.Pro465Thr)	FEZF1 (P465T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236936	NM_001024613.4(FEZF1):c.1373C>A (p.Pro458Gln)	FEZF1 (P458Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713972	NM_001024613.4(FEZF1):c.1350G>A (p.Pro450=)	FEZF1	Single nucleotide variant (synonymous variant)	FEZF1-related disorder +2 more	GBenign
Select item 2348403	NM_001024613.4(FEZF1):c.1349C>T (p.Pro450Leu)	FEZF1 (P450L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1344748	NM_001024613.4(FEZF1):c.1343A>C (p.Gln448Pro)	FEZF1 (Q398P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2415775	NM_001024613.4(FEZF1):c.1323G>A (p.Pro441=)	FEZF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2020581	NM_001024613.4(FEZF1):c.1318G>C (p.Glu440Gln)	FEZF1 (E440Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2331214	NM_001024613.4(FEZF1):c.1186G>A (p.Asp396Asn)	FEZF1 (D396N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1907351	NM_001024613.4(FEZF1):c.1164C>G (p.Thr388=)	FEZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741676	NM_001024613.4(FEZF1):c.1164C>T (p.Thr388=)	FEZF1	Single nucleotide variant (synonymous variant)	FEZF1-related disorder +2 more	GBenign/Likely benign
Select item 1243725	NM_001024613.4(FEZF1):c.1070-34del	FEZF1	Deletion (intron variant)	not provided	GBenign
Select item 1227480	NM_001024613.4(FEZF1):c.1070-117T>C	FEZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269885	NM_001024613.4(FEZF1):c.1070-212T>C	FEZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263455	NM_001024613.4(FEZF1):c.1069+179G>T	FEZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246110	NM_001024613.4(FEZF1):c.1069+18_1069+20dup	FEZF1	Duplication (intron variant)	not provided	GBenign
Select item 1988604	NM_001024613.4(FEZF1):c.1069+15A>G	FEZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231901	NM_001024613.4(FEZF1):c.1069+6C>G	FEZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267416	NM_001024613.4(FEZF1):c.1069+4T>C	FEZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1337719	NM_001024613.4(FEZF1):c.1020C>G (p.Gly340=)	FEZF1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3094534	NM_001024613.4(FEZF1):c.1015G>A (p.Ala339Thr)	FEZF1 (A339T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782850	NM_001024613.4(FEZF1):c.1002T>C (p.His334=)	FEZF1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 734606	NM_001024613.4(FEZF1):c.937-10T>G	FEZF1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2876092	NM_001024613.4(FEZF1):c.936+17C>T	FEZF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 156219	NM_001024613.4(FEZF1):c.832C>T (p.His278Tyr)	FEZF1 (H278Y +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 22 with anosmia	GPathogenic
Select item 1988111	NM_001024613.4(FEZF1):c.802-17G>A	FEZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218603	NM_001024613.4(FEZF1):c.802-68C>G	FEZF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188395	NM_001024613.4(FEZF1):c.801+101TTCC[17]	FEZF1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1292806	NM_001024613.4(FEZF1):c.801+101TTCC[12]	FEZF1	Microsatellite (intron variant)	not provided	GBenign
Select item 1286355	NM_001024613.4(FEZF1):c.801+101TTCC[13]	FEZF1	Microsatellite (intron variant)	not provided	GBenign
Select item 1253591	NM_001024613.4(FEZF1):c.801+101TTCC[15]	FEZF1	Microsatellite (intron variant)	not provided	GBenign
Select item 1235918	NM_001024613.4(FEZF1):c.801+101TTCC[14]	FEZF1	Microsatellite (intron variant)	not provided	GBenign
Select item 1201723	NM_001024613.4(FEZF1):c.801+101TTCC[9]	FEZF1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1195384	NM_001024613.4(FEZF1):c.801+125T>C	FEZF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223808	NM_001024613.4(FEZF1):c.801+120_801+121insTCCC	FEZF1	Insertion (intron variant)	not provided	GLikely benign
Select item 1182377	NM_001024613.4(FEZF1):c.801+121T>C	FEZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211178	NM_001024613.4(FEZF1):c.801+101_801+102insCCC	FEZF1	Insertion (intron variant)	not provided	GLikely benign
Select item 1292688	NM_001024613.4(FEZF1):c.801+101T>C	FEZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220565	NM_001024613.4(FEZF1):c.801+93CTCC[4]	FEZF1	Microsatellite (intron variant)	not provided	GBenign
Select item 1197537	NM_001024613.4(FEZF1):c.801+100_801+101insTCCCTCCCTCCT	FEZF1	Insertion (intron variant)	not provided	GLikely benign
Select item 1216301	NM_001024613.4(FEZF1):c.801+77_801+96del	FEZF1	Deletion (intron variant)	not provided	GLikely benign
Select item 1209236	NM_001024613.4(FEZF1):c.801+59C>T	FEZF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245264	NM_001024613.4(FEZF1):c.801+49T>C	FEZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192039	NM_001024613.4(FEZF1):c.801+10A>T	FEZF1	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 22 with or without anosmia +2 more	GBenign/Likely benign
Select item 2057188	NM_001024613.4(FEZF1):c.787G>A (p.Glu263Lys)	FEZF1 (E213K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 734305	NM_001024613.4(FEZF1):c.780C>T (p.Phe260=)	FEZF1, FEZF1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	FEZF1-related disorder +1 more	GLikely benign
Select item 2302872	NM_001024613.4(FEZF1):c.779T>C (p.Phe260Ser)	FEZF1, FEZF1-AS1 (F210S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623701	NM_001024613.4(FEZF1):c.752G>C (p.Gly251Ala)	FEZF1, FEZF1-AS1 (G251A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3058729	NM_001024613.4(FEZF1):c.735C>G (p.Thr245=)	FEZF1, FEZF1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	FEZF1-related disorder	GLikely benign
Select item 1904434	NM_001024613.4(FEZF1):c.711G>T (p.Leu237=)	FEZF1, FEZF1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2470531	NM_001024613.4(FEZF1):c.677T>G (p.Leu226Arg)	FEZF1, FEZF1-AS1 (L176R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 156220	NM_001024613.4(FEZF1):c.653del (p.Phe218fs)	FEZF1, FEZF1-AS1 (F168fs +1 more)	Deletion (non-coding transcript variant +1 more)	Hypogonadotropic hypogonadism 22 with anosmia	GPathogenic
Select item 725249	NM_001024613.4(FEZF1):c.615G>A (p.Val205=)	FEZF1, FEZF1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1940609	NM_001024613.4(FEZF1):c.590A>G (p.Tyr197Cys)	FEZF1, FEZF1-AS1 (Y197C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 723308	NM_001024613.4(FEZF1):c.553T>C (p.Phe185Leu)	FEZF1, FEZF1-AS1 (F185L)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GLikely benign
Select item 718873	NM_001024613.4(FEZF1):c.523G>C (p.Gly175Arg)	FEZF1, FEZF1-AS1 (G175R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GLikely benign
Select item 2499055	NM_001024613.4(FEZF1):c.504C>T (p.Gly168=)	FEZF1, FEZF1-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2368433	NM_001024613.4(FEZF1):c.494G>C (p.Arg165Pro)	FEZF1, FEZF1-AS1 (R165P)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2222520	NM_001024613.4(FEZF1):c.463C>T (p.His155Tyr)	FEZF1, FEZF1-AS1 (H155Y)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2620290	NM_001024613.4(FEZF1):c.449A>G (p.Asn150Ser)	FEZF1, FEZF1-AS1 (N150S)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3094537	NM_001024613.4(FEZF1):c.440G>A (p.Arg147His)	FEZF1, FEZF1-AS1 (R147H)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 754082	NM_001024613.4(FEZF1):c.438G>A (p.Pro146=)	FEZF1, FEZF1-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 731510	NM_001024613.4(FEZF1):c.405G>A (p.Ala135=)	FEZF1, FEZF1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2606475	NM_001024613.4(FEZF1):c.394G>A (p.Ala132Thr)	FEZF1, FEZF1-AS1 (A132T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383196	NM_001024613.4(FEZF1):c.370G>T (p.Ala124Ser)	FEZF1, FEZF1-AS1 (A124S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269105	NM_001024613.4(FEZF1):c.305C>T (p.Ala102Val)	FEZF1, FEZF1-AS1 (A102V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 774664	NM_001024613.4(FEZF1):c.285G>C (p.Pro95=)	FEZF1, FEZF1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	FEZF1-related disorder +1 more	GBenign/Likely benign
Select item 1938510	NM_001024613.4(FEZF1):c.266G>A (p.Gly89Glu)	FEZF1, FEZF1-AS1 (G89E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1339088	NM_001024613.4(FEZF1):c.263C>T (p.Ala88Val)	FEZF1, FEZF1-AS1 (A88V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3094536	NM_001024613.4(FEZF1):c.254G>A (p.Ser85Asn)	FEZF1, FEZF1-AS1 (S85N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 787587	NM_001024613.4(FEZF1):c.253A>G (p.Ser85Gly)	FEZF1, FEZF1-AS1 (S85G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 721996	NM_001024613.4(FEZF1):c.252G>A (p.Thr84=)	FEZF1, FEZF1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2484322	NM_001024613.4(FEZF1):c.250A>T (p.Thr84Ser)	FEZF1, FEZF1-AS1 (T84S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 788360	NM_001024613.4(FEZF1):c.213C>T (p.Ile71=)	FEZF1, FEZF1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2118461	NM_001024613.4(FEZF1):c.197A>C (p.His66Pro)	FEZF1, FEZF1-AS1 (H66P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2103848	NM_001024613.4(FEZF1):c.188A>G (p.His63Arg)	FEZF1-AS1, FEZF1 (H63R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2350158	NM_001024613.4(FEZF1):c.184A>G (p.Lys62Glu)	FEZF1, FEZF1-AS1 (K62E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 757582	NM_001024613.4(FEZF1):c.180A>G (p.Glu60=)	FEZF1, FEZF1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3094535	NM_001024613.4(FEZF1):c.166T>G (p.Leu56Val)	FEZF1, FEZF1-AS1 (L56V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 753625	NM_001024613.4(FEZF1):c.123A>T (p.Pro41=)	FEZF1, FEZF1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2246715	NM_001024613.4(FEZF1):c.115C>T (p.Arg39Cys)	FEZF1, FEZF1-AS1 (R39C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1428079	NM_001024613.4(FEZF1):c.74C>A (p.Thr25Lys)	FEZF1, FEZF1-AS1 (T25K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3094539	NM_001024613.4(FEZF1):c.65T>A (p.Met22Lys)	FEZF1, FEZF1-AS1 (M22K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258460	NM_001024613.4(FEZF1):c.55C>T (p.Arg19Trp)	FEZF1, FEZF1-AS1 (R19W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1292689	NM_001024613.4(FEZF1):c.-36A>G	FEZF1, FEZF1-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1276511	NC_000007.14:g.122304803dup	FEZF1, FEZF1-AS1	Duplication (genic upstream transcript variant)	not provided	GBenign
Select item 1267122	NC_000007.14:g.122304811del	FEZF1, FEZF1-AS1	Deletion (genic upstream transcript variant)	not provided	GBenign

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