"Ambry Genetics"[submitter] AND "SPATA31F1"[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2529629	NM_001141917.2(SPATA31F1):c.3946C>G (p.Arg1316Gly)	PHF24, SPATA31F1 (R1316G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366066	NM_001141917.2(SPATA31F1):c.3940T>C (p.Tyr1314His)	PHF24, SPATA31F1 (Y1314H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2351498	NM_001141917.2(SPATA31F1):c.3931G>C (p.Ala1311Pro)	PHF24, SPATA31F1 (A1311P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228407	NM_001141917.2(SPATA31F1):c.3881C>A (p.Ser1294Tyr)	SPATA31F1, PHF24 (S1294Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403820	NM_001141917.2(SPATA31F1):c.3868G>C (p.Asp1290His)	SPATA31F1, PHF24 (D1290H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365209	NM_001141917.2(SPATA31F1):c.3758G>C (p.Ser1253Thr)	PHF24, SPATA31F1 (S1253T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617476	NM_001141917.2(SPATA31F1):c.3692A>G (p.His1231Arg)	PHF24, SPATA31F1 (H1231R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609077	NM_001141917.2(SPATA31F1):c.3596A>C (p.His1199Pro)	PHF24, SPATA31F1 (H1199P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371181	NM_001141917.2(SPATA31F1):c.3563G>A (p.Gly1188Asp)	PHF24, SPATA31F1 (G1188D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356968	NM_001141917.2(SPATA31F1):c.3562G>T (p.Gly1188Cys)	SPATA31F1, PHF24 (G1188C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391016	NM_001141917.2(SPATA31F1):c.3532G>A (p.Ala1178Thr)	PHF24, SPATA31F1 (A1178T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245321	NM_001141917.2(SPATA31F1):c.3473C>T (p.Ala1158Val)	PHF24, SPATA31F1 (A1158V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602964	NM_001141917.2(SPATA31F1):c.3380G>A (p.Arg1127Gln)	PHF24, SPATA31F1 (R1127Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394837	NM_001141917.2(SPATA31F1):c.3355C>T (p.Leu1119Phe)	SPATA31F1, PHF24 (L1119F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355351	NM_001141917.2(SPATA31F1):c.3345T>A (p.His1115Gln)	SPATA31F1, PHF24 (H1115Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522813	NM_001141917.2(SPATA31F1):c.3194C>T (p.Ala1065Val)	PHF24, SPATA31F1 (A1065V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329253	NM_001141917.2(SPATA31F1):c.3143G>C (p.Arg1048Thr)	PHF24, SPATA31F1 (R1048T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258074	NM_001141917.2(SPATA31F1):c.3055C>A (p.Pro1019Thr)	PHF24, SPATA31F1 (P1019T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342982	NM_001141917.2(SPATA31F1):c.3014C>T (p.Ala1005Val)	SPATA31F1, PHF24 (A1005V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590794	NM_001141917.2(SPATA31F1):c.3007A>G (p.Thr1003Ala)	SPATA31F1, PHF24 (T1003A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293950	NM_001141917.2(SPATA31F1):c.2966C>T (p.Ala989Val)	PHF24, SPATA31F1 (A989V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383701	NM_001141917.2(SPATA31F1):c.2957A>G (p.Gln986Arg)	PHF24, SPATA31F1 (Q986R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524938	NM_001141917.2(SPATA31F1):c.2949T>A (p.Ala983=)	PHF24, SPATA31F1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2520117	NM_001141917.2(SPATA31F1):c.2939A>G (p.Asn980Ser)	PHF24, SPATA31F1 (N980S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2283281	NM_001141917.2(SPATA31F1):c.2886A>T (p.Lys962Asn)	SPATA31F1, PHF24 (K962N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602610	NM_001141917.2(SPATA31F1):c.2792A>G (p.Glu931Gly)	PHF24, SPATA31F1 (E931G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2614720	NM_001141917.2(SPATA31F1):c.2789T>G (p.Leu930Arg)	PHF24, SPATA31F1 (L930R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301283	NM_001141917.2(SPATA31F1):c.2619C>G (p.Ser873Arg)	SPATA31F1, PHF24 (S873R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516296	NM_001141917.2(SPATA31F1):c.2449C>T (p.Pro817Ser)	PHF24, SPATA31F1 (P817S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524164	NM_001141917.2(SPATA31F1):c.2360G>A (p.Gly787Glu)	PHF24, SPATA31F1 (G787E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623870	NM_001141917.2(SPATA31F1):c.2276C>A (p.Pro759His)	PHF24, SPATA31F1 (P759H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328016	NM_001141917.2(SPATA31F1):c.2255C>G (p.Pro752Arg)	PHF24, SPATA31F1 (P752R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539248	NM_001141917.2(SPATA31F1):c.2235T>A (p.Asp745Glu)	PHF24, SPATA31F1 (D745E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333165	NM_001141917.2(SPATA31F1):c.2220G>A (p.Met740Ile)	PHF24, SPATA31F1 (M740I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328015	NM_001141917.2(SPATA31F1):c.2183G>A (p.Ser728Asn)	SPATA31F1, PHF24 (S728N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274729	NM_001141917.2(SPATA31F1):c.2131G>A (p.Ala711Thr)	SPATA31F1, PHF24 (A711T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591617	NM_001141917.2(SPATA31F1):c.2065C>A (p.Gln689Lys)	PHF24, SPATA31F1 (Q689K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221804	NM_001141917.2(SPATA31F1):c.2038A>G (p.Ile680Val)	SPATA31F1, PHF24 (I680V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555952	NM_001141917.2(SPATA31F1):c.2036A>G (p.His679Arg)	PHF24, SPATA31F1 (H679R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595260	NM_001141917.2(SPATA31F1):c.1973C>T (p.Ala658Val)	PHF24, SPATA31F1 (A658V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2411724	NM_001141917.2(SPATA31F1):c.1954G>A (p.Asp652Asn)	SPATA31F1, PHF24 (D652N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552453	NM_001141917.2(SPATA31F1):c.1811G>A (p.Arg604His)	PHF24, SPATA31F1 (R604H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209848	NM_001141917.2(SPATA31F1):c.1754C>T (p.Pro585Leu)	SPATA31F1, PHF24 (P585L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327282	NM_001141917.2(SPATA31F1):c.1552G>A (p.Glu518Lys)	SPATA31F1, PHF24 (E518K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267016	NM_001141917.2(SPATA31F1):c.1454C>G (p.Pro485Arg)	SPATA31F1, PHF24 (P485R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263797	NM_001141917.2(SPATA31F1):c.1402C>A (p.Pro468Thr)	PHF24, SPATA31F1 (P468T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311020	NM_001141917.2(SPATA31F1):c.1391C>T (p.Pro464Leu)	SPATA31F1, PHF24 (P464L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309310	NM_001141917.2(SPATA31F1):c.1357G>A (p.Gly453Ser)	PHF24, SPATA31F1 (G453S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304661	NM_001141917.2(SPATA31F1):c.1340C>T (p.Thr447Ile)	PHF24, SPATA31F1 (T447I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608098	NM_001141917.2(SPATA31F1):c.1161C>G (p.His387Gln)	PHF24, SPATA31F1 (H387Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286985	NM_001141917.2(SPATA31F1):c.1156C>T (p.His386Tyr)	SPATA31F1, PHF24 (H386Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277805	NM_001141917.2(SPATA31F1):c.1064T>C (p.Ile355Thr)	PHF24, SPATA31F1 (I355T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411866	NM_001141917.2(SPATA31F1):c.1039G>A (p.Val347Ile)	SPATA31F1, PHF24 (V347I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293229	NM_001141917.2(SPATA31F1):c.980T>C (p.Leu327Ser)	SPATA31F1, PHF24 (L327S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391863	NM_001141917.2(SPATA31F1):c.920G>A (p.Arg307Lys)	PHF24, SPATA31F1 (R307K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244005	NM_001141917.2(SPATA31F1):c.704A>G (p.Glu235Gly)	SPATA31F1, PHF24 (E235G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381162	NM_001141917.2(SPATA31F1):c.383C>A (p.Thr128Asn)	PHF24, SPATA31F1 (T128N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257670	NM_001141917.2(SPATA31F1):c.293T>C (p.Leu98Pro)	SPATA31F1, PHF24 (L98P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403328	NM_001141917.2(SPATA31F1):c.283C>T (p.Arg95Trp)	SPATA31F1, PHF24 (R95W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590562	NM_001141917.2(SPATA31F1):c.200G>A (p.Arg67His)	PHF24, SPATA31F1 (R67H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345283	NM_001141917.2(SPATA31F1):c.167G>A (p.Arg56Lys)	PHF24, SPATA31F1 (R56K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293528	NM_001141917.2(SPATA31F1):c.19G>T (p.Val7Phe)	SPATA31F1, PHF24 (V7F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 62