ClinVar for Gene (Select 29109) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278845	NM_013241.3(FHOD1):c.3328C>T (p.Leu1110Phe)	FHOD1 (L1110F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278844	NM_013241.3(FHOD1):c.1720C>A (p.Pro574Thr)	FHOD1 (P600T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278843	NM_013241.3(FHOD1):c.1322C>T (p.Ala441Val)	FHOD1 (A467V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278842	NM_013241.3(FHOD1):c.2720G>A (p.Arg907Gln)	FHOD1 (R907Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278841	NM_013241.3(FHOD1):c.1396C>T (p.Leu466Phe)	FHOD1 (L466F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278840	NM_013241.3(FHOD1):c.2986C>A (p.Gln996Lys)	FHOD1 (Q1022K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278839	NM_013241.3(FHOD1):c.3238A>G (p.Ile1080Val)	FHOD1 (I1080V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3278837	NM_013241.3(FHOD1):c.3056A>G (p.Glu1019Gly)	FHOD1 (E1019G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278836	NM_013241.3(FHOD1):c.2347C>G (p.Leu783Val)	FHOD1 (L783V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278835	NM_013241.3(FHOD1):c.836C>A (p.Thr279Asn)	FHOD1, LOC126862378 (T279N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278834	NM_013241.3(FHOD1):c.3005C>T (p.Ala1002Val)	FHOD1 (A1028V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278833	NM_013241.3(FHOD1):c.2495A>G (p.Asn832Ser)	FHOD1 (N832S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278832	NM_013241.3(FHOD1):c.2936C>T (p.Thr979Met)	FHOD1 (T1005M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278831	NM_013241.3(FHOD1):c.235G>A (p.Gly79Arg)	FHOD1 (G79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3095127	NM_013241.3(FHOD1):c.82C>A (p.Pro28Thr)	FHOD1 (P28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095125	NM_013241.3(FHOD1):c.660G>C (p.Lys220Asn)	FHOD1, LOC126862378 (K220N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095123	NM_013241.3(FHOD1):c.3199A>T (p.Asn1067Tyr)	FHOD1 (N1067Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095122	NM_013241.3(FHOD1):c.317G>A (p.Arg106Gln)	FHOD1 (R106Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095121	NM_013241.3(FHOD1):c.3167T>C (p.Leu1056Pro)	FHOD1 (L1082P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095120	NM_013241.3(FHOD1):c.3059A>G (p.Lys1020Arg)	FHOD1 (K1020R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095119	NM_013241.3(FHOD1):c.2978G>A (p.Arg993Gln)	FHOD1 (R993Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095118	NM_013241.3(FHOD1):c.2962C>T (p.Arg988Trp)	FHOD1 (R1014W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095117	NM_013241.3(FHOD1):c.2931C>G (p.Cys977Trp)	FHOD1 (C977W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095116	NM_013241.3(FHOD1):c.2905C>T (p.Arg969Cys)	FHOD1 (R969C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095115	NM_013241.3(FHOD1):c.2845C>T (p.Arg949Cys)	FHOD1 (R975C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095113	NM_013241.3(FHOD1):c.2777G>A (p.Arg926His)	FHOD1 (R952H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095112	NM_013241.3(FHOD1):c.2773C>G (p.Leu925Val)	FHOD1 (L925V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095111	NM_013241.3(FHOD1):c.2657G>A (p.Arg886His)	FHOD1 (R912H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095110	NM_013241.3(FHOD1):c.2555A>C (p.Asp852Ala)	FHOD1 (D878A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095108	NM_013241.3(FHOD1):c.2277A>G (p.Ile759Met)	FHOD1 (I785M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095107	NM_013241.3(FHOD1):c.2086G>A (p.Asp696Asn)	FHOD1 (D696N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095106	NM_013241.3(FHOD1):c.2036T>C (p.Leu679Pro)	FHOD1 (L679P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095105	NM_013241.3(FHOD1):c.1753C>A (p.Pro585Thr)	FHOD1 (P585T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095104	NM_013241.3(FHOD1):c.1559T>C (p.Ile520Thr)	FHOD1 (I520T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095103	NM_013241.3(FHOD1):c.1504T>C (p.Cys502Arg)	FHOD1 (C502R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3095102	NM_013241.3(FHOD1):c.1441C>T (p.Arg481Trp)	FHOD1 (R507W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095101	NM_013241.3(FHOD1):c.139G>T (p.Gly47Trp)	FHOD1 (G47W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615763	NM_013241.3(FHOD1):c.3357T>G (p.Ser1119Arg)	FHOD1 (S1119R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597803	NM_013241.3(FHOD1):c.22G>T (p.Gly8Trp)	FHOD1 (G8W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595070	NM_013241.3(FHOD1):c.3172A>G (p.Thr1058Ala)	FHOD1 (T1084A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593989	NM_013241.3(FHOD1):c.1370C>T (p.Ala457Val)	FHOD1 (A457V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556070	NM_013241.3(FHOD1):c.724C>T (p.Arg242Cys)	FHOD1, LOC126862378 (R242C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2555257	NM_013241.3(FHOD1):c.2807G>A (p.Cys936Tyr)	FHOD1 (C936Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545008	NM_013241.3(FHOD1):c.548C>T (p.Ala183Val)	FHOD1, LOC126862378 (A183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543742	NM_013241.3(FHOD1):c.2293G>A (p.Glu765Lys)	FHOD1 (E791K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541837	NM_013241.3(FHOD1):c.2754G>T (p.Lys918Asn)	FHOD1 (K918N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532166	NM_013241.3(FHOD1):c.434T>A (p.Ile145Asn)	FHOD1, LOC126862378 (I145N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529904	NM_013241.3(FHOD1):c.1840G>A (p.Val614Met)	FHOD1 (V640M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523293	NM_013241.3(FHOD1):c.2725G>T (p.Ala909Ser)	FHOD1 (A909S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522540	NM_013241.3(FHOD1):c.1519G>T (p.Ala507Ser)	FHOD1 (A533S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522134	NM_013241.3(FHOD1):c.3130C>T (p.Arg1044Trp)	FHOD1 (R1044W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521875	NM_013241.3(FHOD1):c.2263G>A (p.Ala755Thr)	FHOD1 (A755T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519602	NM_013241.3(FHOD1):c.1052G>A (p.Arg351Gln)	FHOD1, LOC126862378 (R351Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517336	NM_013241.3(FHOD1):c.250A>G (p.Thr84Ala)	FHOD1 (T84A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511956	NM_013241.3(FHOD1):c.2915G>A (p.Arg972His)	FHOD1 (R998H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508950	NM_013241.3(FHOD1):c.2783G>A (p.Arg928His)	FHOD1 (R954H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507641	NM_013241.3(FHOD1):c.757G>A (p.Ala253Thr)	FHOD1, LOC126862378 (A253T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2501748	NM_013241.3(FHOD1):c.1755del (p.Pro587fs)	FHOD1 (P587fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2493813	NM_013241.3(FHOD1):c.2791C>T (p.His931Tyr)	FHOD1 (H931Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482616	NM_013241.3(FHOD1):c.1811T>A (p.Leu604Gln)	FHOD1 (L604Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482172	NM_013241.3(FHOD1):c.44T>C (p.Val15Ala)	FHOD1 (V15A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472445	NM_013241.3(FHOD1):c.103C>G (p.Pro35Ala)	FHOD1 (P35A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469508	NM_013241.3(FHOD1):c.2852G>T (p.Cys951Phe)	FHOD1 (C951F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466291	NM_013241.3(FHOD1):c.1058G>T (p.Arg353Leu)	FHOD1, LOC126862378 (R353L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2412520	NM_013241.3(FHOD1):c.553G>A (p.Gly185Ser)	FHOD1, LOC126862378 (G185S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407178	NM_013241.3(FHOD1):c.1385G>A (p.Arg462Gln)	FHOD1 (R462Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392192	NM_013241.3(FHOD1):c.2894C>T (p.Pro965Leu)	FHOD1 (P965L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391785	NM_013241.3(FHOD1):c.3155G>A (p.Ser1052Asn)	FHOD1 (S1052N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380481	NM_013241.3(FHOD1):c.646C>G (p.Arg216Gly)	FHOD1, LOC126862378 (R216G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371445	NM_013241.3(FHOD1):c.1151G>A (p.Gly384Asp)	FHOD1, LOC130059190 (G384D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360310	NM_013241.3(FHOD1):c.2719C>T (p.Arg907Trp)	FHOD1 (R907W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2344523	NM_013241.3(FHOD1):c.407G>A (p.Arg136His)	FHOD1, LOC126862378 (R136H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344070	NM_013241.3(FHOD1):c.2452C>T (p.Arg818Cys)	FHOD1 (R844C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340668	NM_013241.3(FHOD1):c.1991C>T (p.Thr664Met)	FHOD1 (T664M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339307	NM_013241.3(FHOD1):c.3005C>A (p.Ala1002Asp)	FHOD1 (A1028D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333628	NM_013241.3(FHOD1):c.3351G>C (p.Lys1117Asn)	FHOD1 (K1117N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329382	NM_013241.3(FHOD1):c.1847A>T (p.Asp616Val)	FHOD1 (D616V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328534	NM_013241.3(FHOD1):c.1706T>C (p.Ile569Thr)	FHOD1 (I569T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315758	NM_013241.3(FHOD1):c.2177T>C (p.Phe726Ser)	FHOD1 (F726S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315085	NM_013241.3(FHOD1):c.2665A>G (p.Lys889Glu)	FHOD1 (K889E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307418	NM_013241.3(FHOD1):c.1774C>A (p.Pro592Thr)	FHOD1 (P618T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307417	NM_013241.3(FHOD1):c.1754C>A (p.Pro585His)	FHOD1 (P585H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304910	NM_013241.3(FHOD1):c.107A>G (p.Glu36Gly)	FHOD1 (E36G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303333	NM_013241.3(FHOD1):c.1376C>T (p.Ala459Val)	FHOD1 (A459V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295560	NM_013241.3(FHOD1):c.2318C>T (p.Ser773Phe)	FHOD1 (S799F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294851	NM_013241.3(FHOD1):c.3049G>A (p.Glu1017Lys)	FHOD1 (E1043K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294661	NM_013241.3(FHOD1):c.3344T>C (p.Val1115Ala)	FHOD1 (V1141A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284464	NM_013241.3(FHOD1):c.1687G>A (p.Val563Met)	FHOD1 (V563M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278351	NM_013241.3(FHOD1):c.1324C>T (p.Arg442Trp)	FHOD1 (R468W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242198	NM_013241.3(FHOD1):c.3020G>A (p.Arg1007His)	FHOD1 (R1007H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223313	NM_013241.3(FHOD1):c.1246G>T (p.Ala416Ser)	FHOD1, LOC130059190 (A416S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222905	NM_013241.3(FHOD1):c.1520C>G (p.Ala507Gly)	FHOD1 (A533G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218839	NM_013241.3(FHOD1):c.3157A>G (p.Met1053Val)	FHOD1 (M1053V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218496	NM_013241.3(FHOD1):c.242A>G (p.Tyr81Cys)	FHOD1 (Y81C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216135	NM_013241.3(FHOD1):c.1321G>A (p.Ala441Thr)	FHOD1 (A441T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206923	NM_013241.3(FHOD1):c.1547A>C (p.Lys516Thr)	FHOD1 (K542T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided

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