ClinVar for Gene (Select 729830) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278795	NM_001109977.3(FHIP1A):c.1663C>T (p.Pro555Ser)	FHIP1A (P555S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278794	NM_001109977.3(FHIP1A):c.521C>G (p.Ala174Gly)	FHIP1A (A174G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278793	NM_001109977.3(FHIP1A):c.3053C>T (p.Ala1018Val)	FHIP1A (A1018V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278791	NM_001109977.3(FHIP1A):c.2963A>G (p.Lys988Arg)	FHIP1A (K988R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278790	NM_001109977.3(FHIP1A):c.130G>A (p.Asp44Asn)	FHIP1A (D44N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278789	NM_001109977.3(FHIP1A):c.500A>G (p.Asn167Ser)	FHIP1A (N167S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3278788	NM_001109977.3(FHIP1A):c.1069C>T (p.Arg357Cys)	FHIP1A (R357C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278787	NM_001109977.3(FHIP1A):c.1127G>A (p.Arg376Gln)	FHIP1A (R376Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278786	NM_001109977.3(FHIP1A):c.1139C>T (p.Pro380Leu)	FHIP1A (P380L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278785	NM_001109977.3(FHIP1A):c.2610T>G (p.His870Gln)	FHIP1A (H870Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278784	NM_001109977.3(FHIP1A):c.1960G>A (p.Glu654Lys)	FHIP1A (E654K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278783	NM_001109977.3(FHIP1A):c.1430G>A (p.Arg477Gln)	FHIP1A (R477Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094973	NM_001109977.3(FHIP1A):c.974A>G (p.His325Arg)	FHIP1A (H325R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094972	NM_001109977.3(FHIP1A):c.863C>T (p.Ser288Phe)	FHIP1A (S288F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094971	NM_001109977.3(FHIP1A):c.76A>G (p.Met26Val)	FHIP1A (M26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094970	NM_001109977.3(FHIP1A):c.728G>A (p.Cys243Tyr)	FHIP1A (C243Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094969	NM_001109977.3(FHIP1A):c.718A>G (p.Thr240Ala)	FHIP1A (T240A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094968	NM_001109977.3(FHIP1A):c.652G>T (p.Ala218Ser)	FHIP1A (A218S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094967	NM_001109977.3(FHIP1A):c.608C>T (p.Pro203Leu)	FHIP1A (P203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094966	NM_001109977.3(FHIP1A):c.449G>A (p.Cys150Tyr)	FHIP1A (C150Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094965	NM_001109977.3(FHIP1A):c.410A>G (p.Lys137Arg)	FHIP1A (K137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094964	NM_001109977.3(FHIP1A):c.386C>T (p.Ser129Leu)	FHIP1A (S129L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094963	NM_001109977.3(FHIP1A):c.379A>G (p.Thr127Ala)	FHIP1A (T127A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094962	NM_001109977.3(FHIP1A):c.364T>A (p.Tyr122Asn)	FHIP1A (Y122N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094961	NM_001109977.3(FHIP1A):c.353A>C (p.Gln118Pro)	FHIP1A (Q118P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094959	NM_001109977.3(FHIP1A):c.3012G>A (p.Met1004Ile)	FHIP1A (M1004I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094958	NM_001109977.3(FHIP1A):c.2989C>T (p.Pro997Ser)	FHIP1A (P997S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094957	NM_001109977.3(FHIP1A):c.2828G>A (p.Arg943His)	FHIP1A (R943H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094956	NM_001109977.3(FHIP1A):c.280T>G (p.Ser94Ala)	FHIP1A (S94A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094955	NM_001109977.3(FHIP1A):c.2743G>A (p.Val915Met)	FHIP1A (V915M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094954	NM_001109977.3(FHIP1A):c.2717G>A (p.Arg906His)	FHIP1A (R906H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094953	NM_001109977.3(FHIP1A):c.2693A>G (p.Asn898Ser)	FHIP1A (N898S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094952	NM_001109977.3(FHIP1A):c.2675C>T (p.Ser892Phe)	FHIP1A (S892F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094951	NM_001109977.3(FHIP1A):c.2629G>A (p.Gly877Arg)	FHIP1A (G877R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094950	NM_001109977.3(FHIP1A):c.2564G>T (p.Ser855Ile)	FHIP1A (S855I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094949	NM_001109977.3(FHIP1A):c.2537G>T (p.Ser846Ile)	FHIP1A (S846I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094948	NM_001109977.3(FHIP1A):c.2516G>A (p.Arg839His)	FHIP1A (R839H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094947	NM_001109977.3(FHIP1A):c.2489G>A (p.Gly830Glu)	FHIP1A (G830E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094946	NM_001109977.3(FHIP1A):c.244G>A (p.Asp82Asn)	FHIP1A (D82N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094945	NM_001109977.3(FHIP1A):c.2283G>C (p.Glu761Asp)	FHIP1A (E761D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094944	NM_001109977.3(FHIP1A):c.227T>C (p.Ile76Thr)	FHIP1A (I76T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094943	NM_001109977.3(FHIP1A):c.2274C>G (p.Ile758Met)	FHIP1A (I758M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094942	NM_001109977.3(FHIP1A):c.2237C>T (p.Pro746Leu)	FHIP1A (P746L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094941	NM_001109977.3(FHIP1A):c.2203G>T (p.Ala735Ser)	FHIP1A (A735S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094940	NM_001109977.3(FHIP1A):c.20C>T (p.Thr7Ile)	FHIP1A (T7I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094939	NM_001109977.3(FHIP1A):c.1967T>A (p.Met656Lys)	FHIP1A (M656K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094938	NM_001109977.3(FHIP1A):c.1837C>T (p.Pro613Ser)	FHIP1A (P613S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094937	NM_001109977.3(FHIP1A):c.1833T>G (p.Ile611Met)	FHIP1A (I611M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094936	NM_001109977.3(FHIP1A):c.1831A>C (p.Ile611Leu)	FHIP1A (I611L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094935	NM_001109977.3(FHIP1A):c.1664C>T (p.Pro555Leu)	FHIP1A (P555L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094934	NM_001109977.3(FHIP1A):c.1640C>T (p.Ser547Leu)	FHIP1A (S547L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094933	NM_001109977.3(FHIP1A):c.1637G>T (p.Ser546Ile)	FHIP1A (S546I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094932	NM_001109977.3(FHIP1A):c.1619C>G (p.Thr540Arg)	FHIP1A (T540R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094931	NM_001109977.3(FHIP1A):c.1602G>A (p.Met534Ile)	FHIP1A (M534I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094930	NM_001109977.3(FHIP1A):c.1556G>A (p.Arg519His)	FHIP1A (R519H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094929	NM_001109977.3(FHIP1A):c.1504C>A (p.Gln502Lys)	FHIP1A (Q502K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094928	NM_001109977.3(FHIP1A):c.1441G>A (p.Glu481Lys)	FHIP1A (E481K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094927	NM_001109977.3(FHIP1A):c.1369C>A (p.Gln457Lys)	FHIP1A (Q457K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094926	NM_001109977.3(FHIP1A):c.1243A>C (p.Asn415His)	FHIP1A (N415H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094925	NM_001109977.3(FHIP1A):c.1172T>A (p.Phe391Tyr)	FHIP1A (F391Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094924	NM_001109977.3(FHIP1A):c.1144C>T (p.Arg382Trp)	FHIP1A (R382W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094923	NM_001109977.3(FHIP1A):c.1094A>G (p.Glu365Gly)	FHIP1A (E365G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094922	NM_001109977.3(FHIP1A):c.1043A>G (p.Glu348Gly)	FHIP1A (E348G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094921	NM_001109977.3(FHIP1A):c.1042G>A (p.Glu348Lys)	FHIP1A (E348K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	AFG2A, AFM +537 more	Copy number gain	not provided	GPathogenic
Select item 2685996	GRCh37/hg19 4q31.3(chr4:152578956-152939694)x3	FHIP1A, GATB	Copy number gain	not provided	GUncertain significance
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 2655126	NM_001109977.3(FHIP1A):c.1284A>G (p.Arg428=)	FHIP1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655125	NM_001109977.3(FHIP1A):c.12G>A (p.Ser4=)	FHIP1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624331	NM_001109977.3(FHIP1A):c.1610A>G (p.Gln537Arg)	FHIP1A (Q537R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611421	NM_001109977.3(FHIP1A):c.1453G>A (p.Glu485Lys)	FHIP1A (E485K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610560	NM_001109977.3(FHIP1A):c.838C>T (p.Pro280Ser)	FHIP1A (P280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601186	NM_001109977.3(FHIP1A):c.1538G>A (p.Arg513His)	FHIP1A (R513H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2600766	NM_001109977.3(FHIP1A):c.457A>T (p.Thr153Ser)	FHIP1A (T153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600294	NM_001109977.3(FHIP1A):c.709G>A (p.Val237Met)	FHIP1A (V237M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595418	NM_001109977.3(FHIP1A):c.3007C>G (p.Pro1003Ala)	FHIP1A (P1003A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594348	NM_001109977.3(FHIP1A):c.2566G>A (p.Val856Ile)	FHIP1A (V856I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590912	NM_001109977.3(FHIP1A):c.2231C>T (p.Ala744Val)	FHIP1A (A744V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567317	NM_001109977.3(FHIP1A):c.3050T>A (p.Leu1017Gln)	FHIP1A (L1017Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560262	NM_001109977.3(FHIP1A):c.1114A>G (p.Thr372Ala)	FHIP1A (T372A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558599	NM_001109977.3(FHIP1A):c.3011T>C (p.Met1004Thr)	FHIP1A (M1004T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557508	NM_001109977.3(FHIP1A):c.190G>A (p.Val64Met)	FHIP1A (V64M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557181	NM_001109977.3(FHIP1A):c.829C>G (p.Leu277Val)	FHIP1A (L277V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555582	NM_001109977.3(FHIP1A):c.1021C>T (p.Leu341Phe)	FHIP1A (L341F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555439	NM_001109977.3(FHIP1A):c.2057G>C (p.Ser686Thr)	FHIP1A (S686T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547018	NM_001109977.3(FHIP1A):c.2438C>T (p.Ser813Phe)	FHIP1A (S813F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541882	NM_001109977.3(FHIP1A):c.2980C>T (p.Pro994Ser)	FHIP1A (P994S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538995	NM_001109977.3(FHIP1A):c.644C>T (p.Ala215Val)	FHIP1A (A215V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533344	NM_001109977.3(FHIP1A):c.2384A>G (p.Glu795Gly)	FHIP1A (E795G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529119	NM_001109977.3(FHIP1A):c.757C>G (p.Leu253Val)	FHIP1A (L253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528534	NM_001109977.3(FHIP1A):c.1567G>A (p.Ala523Thr)	FHIP1A (A523T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515012	NM_001109977.3(FHIP1A):c.1844A>G (p.Lys615Arg)	FHIP1A (K615R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513039	NM_001109977.3(FHIP1A):c.1619C>T (p.Thr540Met)	FHIP1A (T540M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511205	NM_001109977.3(FHIP1A):c.2230G>A (p.Ala744Thr)	FHIP1A (A744T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491838	NM_001109977.3(FHIP1A):c.2060C>T (p.Thr687Ile)	FHIP1A (T687I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484746	NM_001109977.3(FHIP1A):c.1121C>T (p.Thr374Met)	FHIP1A (T374M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474404	NM_001109977.3(FHIP1A):c.2139G>C (p.Lys713Asn)	FHIP1A (K713N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473793	NM_001109977.3(FHIP1A):c.1784C>T (p.Ser595Phe)	FHIP1A (S595F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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