ClinVar for Gene (Select 259308) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321982	NM_001141917.2(SPATA31F1):c.2444C>T (p.Pro815Leu)	PHF24, SPATA31F1 (P815L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321981	NM_001141917.2(SPATA31F1):c.1669G>A (p.Gly557Ser)	PHF24, SPATA31F1 (G557S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321980	NM_001141917.2(SPATA31F1):c.2104T>G (p.Cys702Gly)	PHF24, SPATA31F1 (C702G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321979	NM_001141917.2(SPATA31F1):c.143G>T (p.Arg48Leu)	PHF24, SPATA31F1 (R48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321978	NM_001141917.2(SPATA31F1):c.613G>C (p.Gly205Arg)	PHF24, SPATA31F1 (G205R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245304	NC_000009.11:g.(?_32453279)_(36276941_?)dup	ANKRD18B, APTX +75 more	Duplication	not provided	GUncertain significance
Select item 3245076	NC_000009.11:g.(?_33436037)_(37436779_?)del	ANKRD18B, AQP3 +66 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3168601	NM_001141917.2(SPATA31F1):c.924G>C (p.Trp308Cys)	PHF24, SPATA31F1 (W308C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168600	NM_001141917.2(SPATA31F1):c.862A>T (p.Ser288Cys)	PHF24, SPATA31F1 (S288C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168599	NM_001141917.2(SPATA31F1):c.712A>G (p.Thr238Ala)	PHF24, SPATA31F1 (T238A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168598	NM_001141917.2(SPATA31F1):c.478A>G (p.Thr160Ala)	PHF24, SPATA31F1 (T160A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168597	NM_001141917.2(SPATA31F1):c.472T>C (p.Trp158Arg)	PHF24, SPATA31F1 (W158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168596	NM_001141917.2(SPATA31F1):c.436A>C (p.Ser146Arg)	PHF24, SPATA31F1 (S146R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168595	NM_001141917.2(SPATA31F1):c.3979T>G (p.Cys1327Gly)	PHF24, SPATA31F1 (C1327G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168594	NM_001141917.2(SPATA31F1):c.3958C>T (p.Arg1320Cys)	PHF24, SPATA31F1 (R1320C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168593	NM_001141917.2(SPATA31F1):c.3944C>A (p.Pro1315His)	PHF24, SPATA31F1 (P1315H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168592	NM_001141917.2(SPATA31F1):c.3935T>C (p.Leu1312Pro)	PHF24, SPATA31F1 (L1312P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168591	NM_001141917.2(SPATA31F1):c.3898C>G (p.Arg1300Gly)	PHF24, SPATA31F1 (R1300G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168590	NM_001141917.2(SPATA31F1):c.3839C>A (p.Ala1280Asp)	PHF24, SPATA31F1 (A1280D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168589	NM_001141917.2(SPATA31F1):c.3611C>A (p.Pro1204His)	PHF24, SPATA31F1 (P1204H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168588	NM_001141917.2(SPATA31F1):c.3598G>A (p.Ala1200Thr)	PHF24, SPATA31F1 (A1200T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168587	NM_001141917.2(SPATA31F1):c.3482T>C (p.Val1161Ala)	PHF24, SPATA31F1 (V1161A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168586	NM_001141917.2(SPATA31F1):c.3229C>T (p.Arg1077Cys)	PHF24, SPATA31F1 (R1077C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168585	NM_001141917.2(SPATA31F1):c.3206G>A (p.Arg1069His)	PHF24, SPATA31F1 (R1069H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168584	NM_001141917.2(SPATA31F1):c.3085C>T (p.Pro1029Ser)	PHF24, SPATA31F1 (P1029S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168582	NM_001141917.2(SPATA31F1):c.261G>C (p.Trp87Cys)	PHF24, SPATA31F1 (W87C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168581	NM_001141917.2(SPATA31F1):c.2384C>T (p.Ala795Val)	PHF24, SPATA31F1 (A795V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168580	NM_001141917.2(SPATA31F1):c.2357C>T (p.Ser786Leu)	PHF24, SPATA31F1 (S786L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168579	NM_001141917.2(SPATA31F1):c.2288G>C (p.Arg763Pro)	PHF24, SPATA31F1 (R763P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168578	NM_001141917.2(SPATA31F1):c.2189C>T (p.Pro730Leu)	PHF24, SPATA31F1 (P730L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168577	NM_001141917.2(SPATA31F1):c.2096C>G (p.Ser699Cys)	PHF24, SPATA31F1 (S699C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168575	NM_001141917.2(SPATA31F1):c.1810C>T (p.Arg604Cys)	PHF24, SPATA31F1 (R604C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168574	NM_001141917.2(SPATA31F1):c.1639A>G (p.Thr547Ala)	PHF24, SPATA31F1 (T547A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168573	NM_001141917.2(SPATA31F1):c.1517G>A (p.Arg506Gln)	PHF24, SPATA31F1 (R506Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168572	NM_001141917.2(SPATA31F1):c.1387C>A (p.Pro463Thr)	PHF24, SPATA31F1 (P463T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168571	NM_001141917.2(SPATA31F1):c.1328C>T (p.Ser443Phe)	PHF24, SPATA31F1 (S443F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168570	NM_001141917.2(SPATA31F1):c.1234C>G (p.Pro412Ala)	PHF24, SPATA31F1 (P412A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2659163	NM_001141917.2(SPATA31F1):c.462G>A (p.Glu154=)	PHF24, SPATA31F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659162	NM_001141917.2(SPATA31F1):c.1917C>T (p.Ile639=)	PHF24, SPATA31F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623870	NM_001141917.2(SPATA31F1):c.2276C>A (p.Pro759His)	PHF24, SPATA31F1 (P759H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617476	NM_001141917.2(SPATA31F1):c.3692A>G (p.His1231Arg)	PHF24, SPATA31F1 (H1231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614720	NM_001141917.2(SPATA31F1):c.2789T>G (p.Leu930Arg)	PHF24, SPATA31F1 (L930R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609077	NM_001141917.2(SPATA31F1):c.3596A>C (p.His1199Pro)	PHF24, SPATA31F1 (H1199P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608098	NM_001141917.2(SPATA31F1):c.1161C>G (p.His387Gln)	PHF24, SPATA31F1 (H387Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602964	NM_001141917.2(SPATA31F1):c.3380G>A (p.Arg1127Gln)	PHF24, SPATA31F1 (R1127Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602610	NM_001141917.2(SPATA31F1):c.2792A>G (p.Glu931Gly)	PHF24, SPATA31F1 (E931G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2595260	NM_001141917.2(SPATA31F1):c.1973C>T (p.Ala658Val)	PHF24, SPATA31F1 (A658V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591617	NM_001141917.2(SPATA31F1):c.2065C>A (p.Gln689Lys)	PHF24, SPATA31F1 (Q689K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590794	NM_001141917.2(SPATA31F1):c.3007A>G (p.Thr1003Ala)	PHF24, SPATA31F1 (T1003A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590562	NM_001141917.2(SPATA31F1):c.200G>A (p.Arg67His)	PHF24, SPATA31F1 (R67H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555952	NM_001141917.2(SPATA31F1):c.2036A>G (p.His679Arg)	PHF24, SPATA31F1 (H679R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552453	NM_001141917.2(SPATA31F1):c.1811G>A (p.Arg604His)	PHF24, SPATA31F1 (R604H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539248	NM_001141917.2(SPATA31F1):c.2235T>A (p.Asp745Glu)	PHF24, SPATA31F1 (D745E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529629	NM_001141917.2(SPATA31F1):c.3946C>G (p.Arg1316Gly)	PHF24, SPATA31F1 (R1316G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524938	NM_001141917.2(SPATA31F1):c.2949T>A (p.Ala983=)	PHF24, SPATA31F1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2524164	NM_001141917.2(SPATA31F1):c.2360G>A (p.Gly787Glu)	PHF24, SPATA31F1 (G787E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522813	NM_001141917.2(SPATA31F1):c.3194C>T (p.Ala1065Val)	PHF24, SPATA31F1 (A1065V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520117	NM_001141917.2(SPATA31F1):c.2939A>G (p.Asn980Ser)	PHF24, SPATA31F1 (N980S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2516296	NM_001141917.2(SPATA31F1):c.2449C>T (p.Pro817Ser)	PHF24, SPATA31F1 (P817S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427794	NC_000009.11:g.(?_34370797)_(36276941_?)dup	RGP1, RMRP +51 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 2425687	NC_000009.11:g.(?_32453279)_(35068379_?)dup	ANKRD18B, APTX +42 more	Duplication	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	OR13J1, OR2S2 +87 more	Duplication	not provided	GUncertain significance
Select item 2411866	NM_001141917.2(SPATA31F1):c.1039G>A (p.Val347Ile)	PHF24, SPATA31F1 (V347I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411724	NM_001141917.2(SPATA31F1):c.1954G>A (p.Asp652Asn)	PHF24, SPATA31F1 (D652N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403820	NM_001141917.2(SPATA31F1):c.3868G>C (p.Asp1290His)	PHF24, SPATA31F1 (D1290H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403328	NM_001141917.2(SPATA31F1):c.283C>T (p.Arg95Trp)	PHF24, SPATA31F1 (R95W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394837	NM_001141917.2(SPATA31F1):c.3355C>T (p.Leu1119Phe)	PHF24, SPATA31F1 (L1119F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391863	NM_001141917.2(SPATA31F1):c.920G>A (p.Arg307Lys)	PHF24, SPATA31F1 (R307K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391016	NM_001141917.2(SPATA31F1):c.3532G>A (p.Ala1178Thr)	PHF24, SPATA31F1 (A1178T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383701	NM_001141917.2(SPATA31F1):c.2957A>G (p.Gln986Arg)	PHF24, SPATA31F1 (Q986R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381162	NM_001141917.2(SPATA31F1):c.383C>A (p.Thr128Asn)	PHF24, SPATA31F1 (T128N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371181	NM_001141917.2(SPATA31F1):c.3563G>A (p.Gly1188Asp)	PHF24, SPATA31F1 (G1188D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366066	NM_001141917.2(SPATA31F1):c.3940T>C (p.Tyr1314His)	PHF24, SPATA31F1 (Y1314H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365209	NM_001141917.2(SPATA31F1):c.3758G>C (p.Ser1253Thr)	PHF24, SPATA31F1 (S1253T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356968	NM_001141917.2(SPATA31F1):c.3562G>T (p.Gly1188Cys)	PHF24, SPATA31F1 (G1188C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355351	NM_001141917.2(SPATA31F1):c.3345T>A (p.His1115Gln)	PHF24, SPATA31F1 (H1115Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351498	NM_001141917.2(SPATA31F1):c.3931G>C (p.Ala1311Pro)	PHF24, SPATA31F1 (A1311P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345283	NM_001141917.2(SPATA31F1):c.167G>A (p.Arg56Lys)	PHF24, SPATA31F1 (R56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342982	NM_001141917.2(SPATA31F1):c.3014C>T (p.Ala1005Val)	PHF24, SPATA31F1 (A1005V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333165	NM_001141917.2(SPATA31F1):c.2220G>A (p.Met740Ile)	PHF24, SPATA31F1 (M740I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329253	NM_001141917.2(SPATA31F1):c.3143G>C (p.Arg1048Thr)	PHF24, SPATA31F1 (R1048T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328016	NM_001141917.2(SPATA31F1):c.2255C>G (p.Pro752Arg)	PHF24, SPATA31F1 (P752R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328015	NM_001141917.2(SPATA31F1):c.2183G>A (p.Ser728Asn)	PHF24, SPATA31F1 (S728N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327282	NM_001141917.2(SPATA31F1):c.1552G>A (p.Glu518Lys)	PHF24, SPATA31F1 (E518K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311020	NM_001141917.2(SPATA31F1):c.1391C>T (p.Pro464Leu)	PHF24, SPATA31F1 (P464L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309310	NM_001141917.2(SPATA31F1):c.1357G>A (p.Gly453Ser)	PHF24, SPATA31F1 (G453S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304661	NM_001141917.2(SPATA31F1):c.1340C>T (p.Thr447Ile)	PHF24, SPATA31F1 (T447I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301283	NM_001141917.2(SPATA31F1):c.2619C>G (p.Ser873Arg)	PHF24, SPATA31F1 (S873R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293950	NM_001141917.2(SPATA31F1):c.2966C>T (p.Ala989Val)	PHF24, SPATA31F1 (A989V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293528	NM_001141917.2(SPATA31F1):c.19G>T (p.Val7Phe)	PHF24, SPATA31F1 (V7F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293229	NM_001141917.2(SPATA31F1):c.980T>C (p.Leu327Ser)	PHF24, SPATA31F1 (L327S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286985	NM_001141917.2(SPATA31F1):c.1156C>T (p.His386Tyr)	PHF24, SPATA31F1 (H386Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283281	NM_001141917.2(SPATA31F1):c.2886A>T (p.Lys962Asn)	PHF24, SPATA31F1 (K962N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277805	NM_001141917.2(SPATA31F1):c.1064T>C (p.Ile355Thr)	PHF24, SPATA31F1 (I355T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274729	NM_001141917.2(SPATA31F1):c.2131G>A (p.Ala711Thr)	PHF24, SPATA31F1 (A711T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267016	NM_001141917.2(SPATA31F1):c.1454C>G (p.Pro485Arg)	PHF24, SPATA31F1 (P485R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263797	NM_001141917.2(SPATA31F1):c.1402C>A (p.Pro468Thr)	PHF24, SPATA31F1 (P468T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258074	NM_001141917.2(SPATA31F1):c.3055C>A (p.Pro1019Thr)	PHF24, SPATA31F1 (P1019T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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