ClinVar for Gene (Select 79925) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362456	NM_024867.4(SPEF2):c.3063G>C (p.Glu1021Asp)	SPEF2 (E1021D)	Single nucleotide variant (missense variant)	Spermatogenic failure 43	GUncertain significance
Select item 3352626	NM_024867.4(SPEF2):c.4199A>G (p.Tyr1400Cys)	SPEF2 (Y1400C)	Single nucleotide variant (missense variant)	SPEF2-related disorder	GLikely benign
Select item 3322111	NM_024867.4(SPEF2):c.4997C>T (p.Pro1666Leu)	SPEF2 (P1666L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3322110	NM_024867.4(SPEF2):c.5081G>A (p.Arg1694Lys)	SPEF2 (R1694K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322109	NM_024867.4(SPEF2):c.1151C>A (p.Ala384Asp)	SPEF2 (A384D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322108	NM_024867.4(SPEF2):c.3964A>G (p.Met1322Val)	SPEF2 (M1322V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322107	NM_024867.4(SPEF2):c.862G>A (p.Glu288Lys)	SPEF2 (E288K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322106	NM_024867.4(SPEF2):c.3069G>A (p.Met1023Ile)	SPEF2 (M1023I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3322105	NM_024867.4(SPEF2):c.1466A>G (p.Gln489Arg)	SPEF2 (Q489R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322104	NM_024867.4(SPEF2):c.4603T>G (p.Trp1535Gly)	SPEF2 (W1535G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322103	NM_024867.4(SPEF2):c.3955T>A (p.Ser1319Thr)	SPEF2 (S1319T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3250650	NM_024867.4(SPEF2):c.4704G>A (p.Gln1568=)	SPEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3168864	NM_024867.4(SPEF2):c.91G>A (p.Gly31Ser)	SPEF2 (G31S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168863	NM_024867.4(SPEF2):c.829A>G (p.Thr277Ala)	SPEF2 (T277A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168862	NM_024867.4(SPEF2):c.704T>C (p.Met235Thr)	SPEF2 (M235T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168860	NM_024867.4(SPEF2):c.5196T>G (p.Ser1732Arg)	SPEF2 (S1732R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168858	NM_024867.4(SPEF2):c.4826T>C (p.Ile1609Thr)	SPEF2 (I1609T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168857	NM_024867.4(SPEF2):c.4820A>C (p.His1607Pro)	SPEF2 (H1607P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168856	NM_024867.4(SPEF2):c.474G>T (p.Arg158Ser)	SPEF2 (R158S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168854	NM_024867.4(SPEF2):c.4420G>A (p.Asp1474Asn)	SPEF2 (D1474N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168853	NM_024867.4(SPEF2):c.437G>A (p.Arg146His)	SPEF2 (R146H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168852	NM_024867.4(SPEF2):c.4180A>C (p.Lys1394Gln)	SPEF2 (K1394Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168851	NM_024867.4(SPEF2):c.4171C>G (p.Leu1391Val)	SPEF2 (L1391V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168850	NM_024867.4(SPEF2):c.4075G>A (p.Glu1359Lys)	SPEF2 (E1359K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168849	NM_024867.4(SPEF2):c.364C>T (p.Arg122Cys)	SPEF2 (R122C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168848	NM_024867.4(SPEF2):c.3541C>T (p.Pro1181Ser)	SPEF2 (P1181S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168847	NM_024867.4(SPEF2):c.3338G>A (p.Arg1113Gln)	SPEF2 (R1113Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168845	NM_024867.4(SPEF2):c.3304A>G (p.Lys1102Glu)	SPEF2 (K1102E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168844	NM_024867.4(SPEF2):c.3131C>T (p.Thr1044Ile)	SPEF2 (T1044I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168843	NM_024867.4(SPEF2):c.3086C>G (p.Pro1029Arg)	SPEF2 (P1029R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168842	NM_024867.4(SPEF2):c.304A>G (p.Ile102Val)	SPEF2 (I102V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168841	NM_024867.4(SPEF2):c.3013C>T (p.Pro1005Ser)	SPEF2 (P1005S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168840	NM_024867.4(SPEF2):c.2945A>G (p.Lys982Arg)	SPEF2 (K982R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168839	NM_024867.4(SPEF2):c.2815A>G (p.Thr939Ala)	SPEF2 (T939A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168838	NM_024867.4(SPEF2):c.2682A>T (p.Glu894Asp)	SPEF2 (E894D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168837	NM_024867.4(SPEF2):c.2386A>T (p.Asn796Tyr)	SPEF2 (N796Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168836	NM_024867.4(SPEF2):c.2297C>T (p.Ala766Val)	SPEF2 (A766V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3168835	NM_024867.4(SPEF2):c.2161G>C (p.Asp721His)	SPEF2 (D721H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3168834	NM_024867.4(SPEF2):c.2152G>A (p.Val718Met)	SPEF2 (V718M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168833	NM_024867.4(SPEF2):c.1640G>A (p.Arg547Gln)	SPEF2 (R547Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3148941	GRCh37/hg19 5p13.3-13.2(chr5:33684931-35652823)x1	ADAMTS12, AGXT2 +11 more	Copy number loss	See cases	GUncertain significance
Select item 3055617	NM_024867.4(SPEF2):c.3799A>T (p.Met1267Leu)	SPEF2 (M1267L)	Single nucleotide variant (missense variant)	SPEF2-related disorder	GLikely benign
Select item 3037048	NM_024867.4(SPEF2):c.4513A>G (p.Asn1505Asp)	SPEF2 (N1505D)	Single nucleotide variant (missense variant)	SPEF2-related disorder	GLikely benign
Select item 3036780	NM_024867.4(SPEF2):c.277G>A (p.Ala93Thr)	SPEF2 (A93T)	Single nucleotide variant (missense variant)	SPEF2-related disorder	GLikely benign
Select item 3034024	NM_024867.4(SPEF2):c.1795C>T (p.Gln599Ter)	SPEF2 (Q599*)	Single nucleotide variant (nonsense)	SPEF2-related disorder	GLikely pathogenic
Select item 3024771	NM_024867.4(SPEF2):c.601A>G (p.Arg201Gly)	SPEF2 (R201G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 2655404	NM_024867.4(SPEF2):c.5313C>T (p.Val1771=)	SPEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655403	NM_024867.4(SPEF2):c.5162T>C (p.Met1721Thr)	SPEF2 (M1721T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2655402	NM_024867.4(SPEF2):c.4247A>G (p.Tyr1416Cys)	SPEF2 (Y1416C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2655401	NM_024867.4(SPEF2):c.4189G>T (p.Gly1397Cys)	SPEF2 (G1397C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2655400	NM_024867.4(SPEF2):c.3801+3A>G	SPEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2655399	NM_024867.4(SPEF2):c.2374A>G (p.Met792Val)	SPEF2 (M792V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2655398	NM_024867.4(SPEF2):c.1233T>C (p.Asp411=)	SPEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655397	NM_024867.4(SPEF2):c.988C>A (p.Arg330=)	SPEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655396	NM_024867.4(SPEF2):c.834C>T (p.Thr278=)	SPEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655395	NM_024867.4(SPEF2):c.222T>C (p.Gly74=)	SPEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633110	NM_024867.4(SPEF2):c.3949+1G>T	SPEF2	Single nucleotide variant (splice donor variant)	SPEF2-related disorder	GLikely pathogenic
Select item 2620806	NM_024867.4(SPEF2):c.4632G>T (p.Met1544Ile)	SPEF2 (M1544I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614740	NM_024867.4(SPEF2):c.4300G>T (p.Asp1434Tyr)	SPEF2 (D1434Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608372	NM_024867.4(SPEF2):c.605G>A (p.Arg202Gln)	SPEF2 (R202Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606548	NM_024867.4(SPEF2):c.3176A>G (p.Tyr1059Cys)	SPEF2 (Y1059C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604156	NM_024867.4(SPEF2):c.3673C>G (p.Pro1225Ala)	SPEF2 (P1225A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598181	NM_024867.4(SPEF2):c.452A>G (p.Asn151Ser)	SPEF2 (N151S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594603	NM_024867.4(SPEF2):c.4396A>G (p.Ile1466Val)	SPEF2 (I1466V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593833	NM_024867.4(SPEF2):c.935G>A (p.Arg312Gln)	SPEF2 (R312Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588286	NM_024867.4(SPEF2):c.3611G>T (p.Ser1204Ile)	SPEF2 (S1204I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582765	NM_024867.4(SPEF2):c.1379A>G (p.His460Arg)	SPEF2 (H460R)	Single nucleotide variant (missense variant)	Spermatogenic failure 43	GUncertain significance
Select item 2571217	NM_024867.4(SPEF2):c.1356-5G>A	SPEF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2569095	NM_024867.4(SPEF2):c.5213A>G (p.Asn1738Ser)	SPEF2 (N1738S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568837	NM_024867.4(SPEF2):c.1130G>T (p.Arg377Leu)	SPEF2 (R377L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2565055	NM_024867.4(SPEF2):c.1009C>T (p.Arg337Trp)	SPEF2 (R337W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559562	NM_024867.4(SPEF2):c.699A>T (p.Lys233Asn)	SPEF2 (K233N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553625	NM_024867.4(SPEF2):c.1039A>G (p.Arg347Gly)	SPEF2 (R347G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536448	NM_024867.4(SPEF2):c.1277A>G (p.Tyr426Cys)	SPEF2 (Y426C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535632	NM_024867.4(SPEF2):c.2266G>A (p.Ala756Thr)	SPEF2 (A756T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533170	NM_024867.4(SPEF2):c.1045G>A (p.Ala349Thr)	SPEF2 (A349T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531924	NM_024867.4(SPEF2):c.682G>A (p.Ala228Thr)	SPEF2 (A228T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525890	NM_024867.4(SPEF2):c.1220A>G (p.Lys407Arg)	SPEF2 (K407R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525419	NM_024867.4(SPEF2):c.5210C>T (p.Ser1737Phe)	SPEF2 (S1737F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525327	NM_024867.4(SPEF2):c.3404T>G (p.Ile1135Ser)	SPEF2 (I1135S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524768	NM_024867.4(SPEF2):c.1166C>G (p.Ala389Gly)	SPEF2 (A389G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517646	NM_024867.4(SPEF2):c.5302C>A (p.Pro1768Thr)	SPEF2 (P1768T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511933	NM_024867.4(SPEF2):c.1018C>T (p.Arg340Trp)	SPEF2 (R340W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509580	NM_024867.4(SPEF2):c.5314G>A (p.Ala1772Thr)	SPEF2 (A1772T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508984	NM_024867.4(SPEF2):c.878T>C (p.Ile293Thr)	SPEF2 (I293T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498970	NM_024867.4(SPEF2):c.3864C>T (p.Pro1288=)	SPEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2495960	NM_024867.4(SPEF2):c.83T>C (p.Phe28Ser)	SPEF2 (F28S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495381	NM_024867.4(SPEF2):c.806C>T (p.Ser269Phe)	SPEF2 (S269F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494519	NM_024867.4(SPEF2):c.4448G>A (p.Gly1483Asp)	SPEF2 (G1483D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494417	NM_024867.4(SPEF2):c.1376T>C (p.Met459Thr)	SPEF2 (M459T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491647	NM_024867.4(SPEF2):c.2953G>C (p.Val985Leu)	SPEF2 (V985L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491578	NM_024867.4(SPEF2):c.5111A>G (p.Glu1704Gly)	SPEF2 (E1704G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488986	NM_024867.4(SPEF2):c.2291A>G (p.Asp764Gly)	SPEF2 (D764G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482534	NM_024867.4(SPEF2):c.4472C>T (p.Thr1491Ile)	SPEF2 (T1491I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475880	NM_024867.4(SPEF2):c.4397T>C (p.Ile1466Thr)	SPEF2 (I1466T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461721	NM_024867.4(SPEF2):c.2581A>G (p.Ile861Val)	SPEF2 (I861V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2455556	NM_024867.4(SPEF2):c.3927A>C (p.Lys1309Asn)	SPEF2 (K1309N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454506	NM_024867.4(SPEF2):c.2429A>G (p.Glu810Gly)	SPEF2 (E810G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424399	NC_000005.9:g.(?_33944753)_(39364566_?)dup	AGXT2, AMACR +32 more	Duplication	not provided	GUncertain significance

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