SPATA31F1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	FAM95B1, FAM95C +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001496, LOC130001497 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	DENND4C, DIPK1B +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	ACER2, ACO1 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	ABHD17B, ACER2 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	ACER2, ACO1 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	SPATA31A5, SPATA31A6 +980 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LINC01235, LINC01239 +899 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001820, LOC130001821 +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	LOC130001624, LOC130001625 +894 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	SLC24A2, SLC25A51 +691 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	ACO1, ALDH1B1 +436 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 1707453	GRCh38/hg38 9p13.3(chr9:33492358-34725916)x4	ANKRD18B, ARID3C +71 more	Copy number gain	not specified	GUncertain significance
Select item 145374	GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	PTENP1-AS, RECK +211 more	Copy number loss	See cases	GPathogenic
Select item 583788	NC_000009.11:g.(?_34645556)_(36277059_?)dup	CCIN, SPATA31F1 +138 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 208963	NM_001141917.2(SPATA31F1):c.3986A>C (p.Asn1329Thr)	PHF24, SPATA31F1 (N1329T)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
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 2529629	NM_001141917.2(SPATA31F1):c.3946C>G (p.Arg1316Gly)	PHF24, SPATA31F1 (R1316G)	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 2366066	NM_001141917.2(SPATA31F1):c.3940T>C (p.Tyr1314His)	PHF24, SPATA31F1 (Y1314H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2351498	NM_001141917.2(SPATA31F1):c.3931G>C (p.Ala1311Pro)	PHF24, SPATA31F1 (A1311P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2228407	NM_001141917.2(SPATA31F1):c.3881C>A (p.Ser1294Tyr)	PHF24, SPATA31F1 (S1294Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403820	NM_001141917.2(SPATA31F1):c.3868G>C (p.Asp1290His)	SPATA31F1, PHF24 (D1290H)	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 2365209	NM_001141917.2(SPATA31F1):c.3758G>C (p.Ser1253Thr)	PHF24, SPATA31F1 (S1253T)	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 208964	NM_001141917.2(SPATA31F1):c.3619A>C (p.Thr1207Pro)	PHF24, SPATA31F1 (T1207P)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
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 2609077	NM_001141917.2(SPATA31F1):c.3596A>C (p.His1199Pro)	PHF24, SPATA31F1 (H1199P)	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 2356968	NM_001141917.2(SPATA31F1):c.3562G>T (p.Gly1188Cys)	PHF24, SPATA31F1 (G1188C)	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 3168587	NM_001141917.2(SPATA31F1):c.3482T>C (p.Val1161Ala)	PHF24, SPATA31F1 (V1161A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245321	NM_001141917.2(SPATA31F1):c.3473C>T (p.Ala1158Val)	PHF24, SPATA31F1 (A1158V)	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 2394837	NM_001141917.2(SPATA31F1):c.3355C>T (p.Leu1119Phe)	PHF24, SPATA31F1 (L1119F)	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 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 2522813	NM_001141917.2(SPATA31F1):c.3194C>T (p.Ala1065Val)	PHF24, SPATA31F1 (A1065V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402843	NM_001141917.2(SPATA31F1):c.3178C>T (p.His1060Tyr)	PHF24, SPATA31F1 (H1060Y)	Single nucleotide variant (missense variant)	not specified	GBenign
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 3168584	NM_001141917.2(SPATA31F1):c.3085C>T (p.Pro1029Ser)	PHF24, SPATA31F1 (P1029S)	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
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 2590794	NM_001141917.2(SPATA31F1):c.3007A>G (p.Thr1003Ala)	PHF24, SPATA31F1 (T1003A)	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 2383701	NM_001141917.2(SPATA31F1):c.2957A>G (p.Gln986Arg)	PHF24, SPATA31F1 (Q986R)	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 2520117	NM_001141917.2(SPATA31F1):c.2939A>G (p.Asn980Ser)	PHF24, SPATA31F1 (N980S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 208965	NM_001141917.2(SPATA31F1):c.2939A>T (p.Asn980Ile)	PHF24, SPATA31F1 (N980I)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
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 2602610	NM_001141917.2(SPATA31F1):c.2792A>G (p.Glu931Gly)	PHF24, SPATA31F1 (E931G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2301283	NM_001141917.2(SPATA31F1):c.2619C>G (p.Ser873Arg)	PHF24, SPATA31F1 (S873R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 208966	NM_001141917.2(SPATA31F1):c.2554G>A (p.Val852Ile)	PHF24, SPATA31F1 (V852I)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208967	NM_001141917.2(SPATA31F1):c.2452G>T (p.Val818Leu)	PHF24, SPATA31F1 (V818L)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
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 3321982	NM_001141917.2(SPATA31F1):c.2444C>T (p.Pro815Leu)	PHF24, SPATA31F1 (P815L)	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 2524164	NM_001141917.2(SPATA31F1):c.2360G>A (p.Gly787Glu)	PHF24, SPATA31F1 (G787E)	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 2623870	NM_001141917.2(SPATA31F1):c.2276C>A (p.Pro759His)	PHF24, SPATA31F1 (P759H)	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 2539248	NM_001141917.2(SPATA31F1):c.2235T>A (p.Asp745Glu)	PHF24, SPATA31F1 (D745E)	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 3168578	NM_001141917.2(SPATA31F1):c.2189C>T (p.Pro730Leu)	PHF24, SPATA31F1 (P730L)	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 2274729	NM_001141917.2(SPATA31F1):c.2131G>A (p.Ala711Thr)	PHF24, SPATA31F1 (A711T)	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 3168577	NM_001141917.2(SPATA31F1):c.2096C>G (p.Ser699Cys)	PHF24, SPATA31F1 (S699C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2221804	NM_001141917.2(SPATA31F1):c.2038A>G (p.Ile680Val)	PHF24, SPATA31F1 (I680V)	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 2595260	NM_001141917.2(SPATA31F1):c.1973C>T (p.Ala658Val)	PHF24, SPATA31F1 (A658V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2659162	NM_001141917.2(SPATA31F1):c.1917C>T (p.Ile639=)	PHF24, SPATA31F1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3168575	NM_001141917.2(SPATA31F1):c.1810C>T (p.Arg604Cys)	PHF24, SPATA31F1 (R604C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209848	NM_001141917.2(SPATA31F1):c.1754C>T (p.Pro585Leu)	PHF24, SPATA31F1 (P585L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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