ClinVar for Gene (Select 286234) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321977	NM_178828.5(SPATA31E1):c.1954G>A (p.Asp652Asn)	LOC497256, SPATA31E1 (D652N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321976	NM_178828.5(SPATA31E1):c.3869G>C (p.Gly1290Ala)	LOC497256, SPATA31E1 (G1290A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321975	NM_178828.5(SPATA31E1):c.1736G>C (p.Arg579Thr)	LOC497256, SPATA31E1 (R579T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321973	NM_178828.5(SPATA31E1):c.578C>G (p.Ala193Gly)	LOC497256, SPATA31E1 (A193G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321972	NM_178828.5(SPATA31E1):c.3644A>G (p.Gln1215Arg)	LOC497256, SPATA31E1 (Q1215R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321971	NM_178828.5(SPATA31E1):c.4028A>G (p.Asn1343Ser)	LOC497256, SPATA31E1 (N1343S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3321970	NM_178828.5(SPATA31E1):c.3446C>G (p.Pro1149Arg)	LOC497256, SPATA31E1 (P1149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321969	NM_178828.5(SPATA31E1):c.772C>A (p.Pro258Thr)	LOC497256, SPATA31E1 (P258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321968	NM_178828.5(SPATA31E1):c.1156G>A (p.Ala386Thr)	LOC497256, SPATA31E1 (A386T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321967	NM_178828.5(SPATA31E1):c.589C>A (p.Pro197Thr)	LOC497256, SPATA31E1 (P197T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321966	NM_178828.5(SPATA31E1):c.2225G>A (p.Arg742Lys)	LOC497256, SPATA31E1 (R742K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321965	NM_178828.5(SPATA31E1):c.224G>A (p.Gly75Asp)	LOC497256, SPATA31E1 (G75D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321964	NM_178828.5(SPATA31E1):c.3233C>T (p.Ala1078Val)	LOC497256, SPATA31E1 (A1078V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321963	NM_178828.5(SPATA31E1):c.667G>A (p.Gly223Arg)	LOC497256, SPATA31E1 (G223R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321962	NM_178828.5(SPATA31E1):c.3370G>T (p.Gly1124Cys)	LOC497256, SPATA31E1 (G1124C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321961	NM_178828.5(SPATA31E1):c.1345G>A (p.Glu449Lys)	LOC497256, SPATA31E1 (E449K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168569	NM_178828.5(SPATA31E1):c.997G>A (p.Asp333Asn)	LOC497256, SPATA31E1 (D333N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168568	NM_178828.5(SPATA31E1):c.931G>A (p.Glu311Lys)	LOC497256, SPATA31E1 (E311K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168567	NM_178828.5(SPATA31E1):c.834C>A (p.Ser278Arg)	LOC497256, SPATA31E1 (S278R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168566	NM_178828.5(SPATA31E1):c.751C>T (p.Pro251Ser)	LOC497256, SPATA31E1 (P251S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168564	NM_178828.5(SPATA31E1):c.4330G>A (p.Ala1444Thr)	LOC497256, SPATA31E1 (A1444T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168563	NM_178828.5(SPATA31E1):c.4161C>G (p.His1387Gln)	LOC497256, SPATA31E1 (H1387Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168562	NM_178828.5(SPATA31E1):c.4116G>A (p.Met1372Ile)	LOC497256, SPATA31E1 (M1372I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168561	NM_178828.5(SPATA31E1):c.4072T>G (p.Cys1358Gly)	LOC497256, SPATA31E1 (C1358G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168560	NM_178828.5(SPATA31E1):c.3953C>T (p.Thr1318Ile)	LOC497256, SPATA31E1 (T1318I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168559	NM_178828.5(SPATA31E1):c.3900G>C (p.Trp1300Cys)	LOC497256, SPATA31E1 (W1300C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168558	NM_178828.5(SPATA31E1):c.3830G>A (p.Arg1277Lys)	LOC497256, SPATA31E1 (R1277K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168557	NM_178828.5(SPATA31E1):c.3527A>G (p.Asp1176Gly)	LOC497256, SPATA31E1 (D1176G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168556	NM_178828.5(SPATA31E1):c.3469T>A (p.Ser1157Thr)	LOC497256, SPATA31E1 (S1157T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168555	NM_178828.5(SPATA31E1):c.3370G>A (p.Gly1124Ser)	LOC497256, SPATA31E1 (G1124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168554	NM_178828.5(SPATA31E1):c.3262G>C (p.Glu1088Gln)	LOC497256, SPATA31E1 (E1088Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168553	NM_178828.5(SPATA31E1):c.3187G>A (p.Asp1063Asn)	LOC497256, SPATA31E1 (D1063N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168552	NM_178828.5(SPATA31E1):c.281C>T (p.Pro94Leu)	LOC497256, SPATA31E1 (P94L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168551	NM_178828.5(SPATA31E1):c.2801C>G (p.Pro934Arg)	LOC497256, SPATA31E1 (P934R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168550	NM_178828.5(SPATA31E1):c.2785G>A (p.Gly929Arg)	LOC497256, SPATA31E1 (G929R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168549	NM_178828.5(SPATA31E1):c.2524T>C (p.Phe842Leu)	LOC497256, SPATA31E1 (F842L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168548	NM_178828.5(SPATA31E1):c.2234A>C (p.Lys745Thr)	LOC497256, SPATA31E1 (K745T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168547	NM_178828.5(SPATA31E1):c.2141C>A (p.Pro714Gln)	LOC497256, SPATA31E1 (P714Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168546	NM_178828.5(SPATA31E1):c.2105T>C (p.Phe702Ser)	LOC497256, SPATA31E1 (F702S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168545	NM_178828.5(SPATA31E1):c.1981C>T (p.Pro661Ser)	LOC497256, SPATA31E1 (P661S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168544	NM_178828.5(SPATA31E1):c.1856T>C (p.Val619Ala)	LOC497256, SPATA31E1 (V619A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168543	NM_178828.5(SPATA31E1):c.1814C>T (p.Ala605Val)	LOC497256, SPATA31E1 (A605V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168542	NM_178828.5(SPATA31E1):c.1745C>T (p.Pro582Leu)	LOC497256, SPATA31E1 (P582L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168541	NM_178828.5(SPATA31E1):c.1723C>T (p.Pro575Ser)	LOC497256, SPATA31E1 (P575S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168540	NM_178828.5(SPATA31E1):c.1676T>C (p.Val559Ala)	LOC497256, SPATA31E1 (V559A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168539	NM_178828.5(SPATA31E1):c.1588C>A (p.Pro530Thr)	LOC497256, SPATA31E1 (P530T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168538	NM_178828.5(SPATA31E1):c.1367G>C (p.Trp456Ser)	SPATA31E1, LOC497256 (W456S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168536	NM_178828.5(SPATA31E1):c.129G>C (p.Glu43Asp)	LOC497256, SPATA31E1 (E43D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168535	NM_178828.5(SPATA31E1):c.1252C>T (p.Arg418Cys)	LOC497256, SPATA31E1 (R418C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168534	NM_178828.5(SPATA31E1):c.1252C>G (p.Arg418Gly)	SPATA31E1, LOC497256 (R418G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168533	NM_178828.5(SPATA31E1):c.1173G>A (p.Met391Ile)	LOC497256, SPATA31E1 (M391I)	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 2659294	NM_178828.5(SPATA31E1):c.2578G>A (p.Val860Ile)	LOC497256, SPATA31E1 (V860I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659293	NM_178828.5(SPATA31E1):c.1167G>A (p.Pro389=)	LOC497256, SPATA31E1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622780	NM_178828.5(SPATA31E1):c.1585C>A (p.Pro529Thr)	LOC497256, SPATA31E1 (P529T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618408	NM_178828.5(SPATA31E1):c.1170C>A (p.His390Gln)	LOC497256, SPATA31E1 (H390Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2614939	NM_178828.5(SPATA31E1):c.4015C>G (p.Pro1339Ala)	LOC497256, SPATA31E1 (P1339A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610231	NM_178828.5(SPATA31E1):c.3418G>A (p.Ala1140Thr)	LOC497256, SPATA31E1 (A1140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602680	NM_178828.5(SPATA31E1):c.2067G>T (p.Lys689Asn)	LOC497256, SPATA31E1 (K689N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597996	NM_178828.5(SPATA31E1):c.158G>A (p.Ser53Asn)	LOC497256, SPATA31E1 (S53N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569877	NM_178828.5(SPATA31E1):c.109G>A (p.Asp37Asn)	LOC497256, SPATA31E1 (D37N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566010	NM_178828.5(SPATA31E1):c.1355C>T (p.Ala452Val)	LOC497256, SPATA31E1 (A452V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2563962	NM_178828.5(SPATA31E1):c.1159G>A (p.Asp387Asn)	LOC497256, SPATA31E1 (D387N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559277	NM_178828.5(SPATA31E1):c.773C>T (p.Pro258Leu)	LOC497256, SPATA31E1 (P258L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551211	NM_178828.5(SPATA31E1):c.1166C>T (p.Pro389Leu)	LOC497256, SPATA31E1 (P389L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544478	NM_178828.5(SPATA31E1):c.1418A>C (p.Lys473Thr)	LOC497256, SPATA31E1 (K473T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543441	NM_178828.5(SPATA31E1):c.2761G>A (p.Ala921Thr)	LOC497256, SPATA31E1 (A921T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537776	NM_178828.5(SPATA31E1):c.3739T>A (p.Tyr1247Asn)	LOC497256, SPATA31E1 (Y1247N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536780	NM_178828.5(SPATA31E1):c.2153G>A (p.Arg718Gln)	SPATA31E1, LOC497256 (R718Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525298	NM_178828.5(SPATA31E1):c.2099G>C (p.Gly700Ala)	LOC497256, SPATA31E1 (G700A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524552	NM_178828.5(SPATA31E1):c.113T>C (p.Ile38Thr)	LOC497256, SPATA31E1 (I38T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521087	NM_178828.5(SPATA31E1):c.1849G>A (p.Gly617Arg)	LOC497256, SPATA31E1 (G617R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520938	NM_178828.5(SPATA31E1):c.2993A>G (p.Glu998Gly)	LOC497256, SPATA31E1 (E998G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518709	NM_178828.5(SPATA31E1):c.3890T>A (p.Phe1297Tyr)	LOC497256, SPATA31E1 (F1297Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517641	NM_178828.5(SPATA31E1):c.4088A>G (p.His1363Arg)	LOC497256, SPATA31E1 (H1363R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517618	NM_178828.5(SPATA31E1):c.2741C>T (p.Pro914Leu)	LOC497256, SPATA31E1 (P914L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2512239	NM_178828.5(SPATA31E1):c.3801C>G (p.Ile1267Met)	LOC497256, SPATA31E1 (I1267M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492620	NM_178828.5(SPATA31E1):c.3065T>C (p.Ile1022Thr)	LOC497256, SPATA31E1 (I1022T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487424	NM_178828.5(SPATA31E1):c.1489C>T (p.Pro497Ser)	LOC497256, SPATA31E1 (P497S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486884	NM_178828.5(SPATA31E1):c.1885T>C (p.Trp629Arg)	LOC497256, SPATA31E1 (W629R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486445	NM_178828.5(SPATA31E1):c.3506C>T (p.Ala1169Val)	LOC497256, SPATA31E1 (A1169V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486063	NM_178828.5(SPATA31E1):c.3623G>A (p.Arg1208Lys)	LOC497256, SPATA31E1 (R1208K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482132	NM_178828.5(SPATA31E1):c.2083G>A (p.Gly695Arg)	LOC497256, SPATA31E1 (G695R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481909	NM_178828.5(SPATA31E1):c.3167G>A (p.Ser1056Asn)	LOC497256, SPATA31E1 (S1056N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479933	NM_178828.5(SPATA31E1):c.3202G>A (p.Gly1068Arg)	LOC497256, SPATA31E1 (G1068R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471771	NM_178828.5(SPATA31E1):c.2847T>G (p.Phe949Leu)	LOC497256, SPATA31E1 (F949L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466142	NM_178828.5(SPATA31E1):c.2425G>A (p.Ala809Thr)	LOC497256, SPATA31E1 (A809T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463160	NM_178828.5(SPATA31E1):c.2360G>A (p.Arg787His)	SPATA31E1, LOC497256 (R787H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461391	NM_178828.5(SPATA31E1):c.17T>C (p.Ile6Thr)	LOC497256, SPATA31E1 (I6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410094	NM_178828.5(SPATA31E1):c.3817G>C (p.Gly1273Arg)	LOC497256, SPATA31E1 (G1273R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408626	NM_178828.5(SPATA31E1):c.2210A>G (p.Glu737Gly)	LOC497256, SPATA31E1 (E737G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404127	NM_178828.5(SPATA31E1):c.2771C>G (p.Pro924Arg)	LOC497256, SPATA31E1 (P924R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403166	NM_178828.5(SPATA31E1):c.986G>A (p.Arg329Gln)	LOC497256, SPATA31E1 (R329Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2395773	NM_178828.5(SPATA31E1):c.1051G>A (p.Val351Ile)	LOC497256, SPATA31E1 (V351I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394756	NM_178828.5(SPATA31E1):c.3587A>G (p.Lys1196Arg)	LOC497256, SPATA31E1 (K1196R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393099	NM_178828.5(SPATA31E1):c.1744C>A (p.Pro582Thr)	LOC497256, SPATA31E1 (P582T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389945	NM_178828.5(SPATA31E1):c.2798C>A (p.Pro933His)	LOC497256, SPATA31E1 (P933H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388088	NM_178828.5(SPATA31E1):c.3397C>T (p.Arg1133Cys)	LOC497256, SPATA31E1 (R1133C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385585	NM_178828.5(SPATA31E1):c.568T>C (p.Ser190Pro)	LOC497256, SPATA31E1 (S190P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383847	NM_178828.5(SPATA31E1):c.2467G>A (p.Glu823Lys)	LOC497256, SPATA31E1 (E823K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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