"Ambry Genetics"[submitter] AND "SPEN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2517900	NM_015001.3(SPEN):c.299G>A (p.Arg100His)	SPEN (R100H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311667	NM_015001.3(SPEN):c.335G>C (p.Gly112Ala)	SPEN (G112A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391426	NM_015001.3(SPEN):c.373C>T (p.Arg125Ter)	SPEN (R125*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2254293	NM_015001.3(SPEN):c.403G>A (p.Gly135Arg)	SPEN (G135R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380334	NM_015001.3(SPEN):c.418A>G (p.Arg140Gly)	SPEN (R140G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322155	NM_015001.3(SPEN):c.467C>T (p.Thr156Met)	SPEN (T156M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309375	NM_015001.3(SPEN):c.551A>G (p.Tyr184Cys)	SPEN (Y184C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3322139	NM_015001.3(SPEN):c.553G>A (p.Ala185Thr)	SPEN (A185T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2387247	NM_015001.3(SPEN):c.577C>T (p.Arg193Cys)	SPEN (R193C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3322157	NM_015001.3(SPEN):c.581T>C (p.Phe194Ser)	SPEN (F194S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542974	NM_015001.3(SPEN):c.714G>C (p.Gln238His)	SPEN (Q238H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256107	NM_015001.3(SPEN):c.799A>G (p.Arg267Gly)	SPEN (R267G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GBenign
Select item 2312465	NM_015001.3(SPEN):c.879C>G (p.Asp293Glu)	SPEN (D293E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550913	NM_015001.3(SPEN):c.905G>A (p.Ser302Asn)	SPEN (S302N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517069	NM_015001.3(SPEN):c.962A>G (p.Gln321Arg)	SPEN (Q321R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480266	NM_015001.3(SPEN):c.1151G>A (p.Arg384Gln)	SPEN (R384Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322141	NM_015001.3(SPEN):c.1304A>G (p.Lys435Arg)	SPEN (K435R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496194	NM_015001.3(SPEN):c.1378C>T (p.Arg460Cys)	SPEN (R460C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168927	NM_015001.3(SPEN):c.1462A>G (p.Ser488Gly)	SPEN (S488G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279723	NM_015001.3(SPEN):c.1475C>G (p.Ala492Gly)	SPEN (A492G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211756	NM_015001.3(SPEN):c.1618T>C (p.Tyr540His)	SPEN (Y540H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230547	NM_015001.3(SPEN):c.1750-4A>T	SPEN	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 3168928	NM_015001.3(SPEN):c.1881C>A (p.Asn627Lys)	SPEN (N627K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380658	NM_015001.3(SPEN):c.1967A>G (p.Glu656Gly)	SPEN (E656G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466812	NM_015001.3(SPEN):c.2162C>A (p.Pro721Gln)	SPEN (P721Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2225563	NM_015001.3(SPEN):c.2162C>T (p.Pro721Leu)	SPEN (P721L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381468	NM_015001.3(SPEN):c.2197C>T (p.Arg733Cys)	SPEN (R733C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256298	NM_015001.3(SPEN):c.2300G>T (p.Ser767Ile)	SPEN (S767I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303908	NM_015001.3(SPEN):c.2320T>C (p.Tyr774His)	SPEN (Y774H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535597	NM_015001.3(SPEN):c.2386A>T (p.Thr796Ser)	SPEN (T796S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1683931	NM_015001.3(SPEN):c.2420G>C (p.Arg807Pro)	SPEN (R807P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3168929	NM_015001.3(SPEN):c.2422T>G (p.Leu808Val)	SPEN (L808V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3025849	NM_015001.3(SPEN):c.2488T>C (p.Ser830Pro)	SPEN (S830P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3168930	NM_015001.3(SPEN):c.2575A>G (p.Arg859Gly)	SPEN (R859G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168931	NM_015001.3(SPEN):c.2599A>G (p.Ile867Val)	SPEN (I867V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531874	NM_015001.3(SPEN):c.2843A>G (p.His948Arg)	SPEN (H948R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596682	NM_015001.3(SPEN):c.2885A>C (p.Lys962Thr)	SPEN (K962T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168932	NM_015001.3(SPEN):c.2903A>G (p.Gln968Arg)	SPEN (Q968R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542458	NM_015001.3(SPEN):c.2999C>T (p.Pro1000Leu)	SPEN (P1000L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334660	NM_015001.3(SPEN):c.3151A>C (p.Lys1051Gln)	SPEN (K1051Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290290	NM_015001.3(SPEN):c.3166A>G (p.Arg1056Gly)	SPEN (R1056G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2298800	NM_015001.3(SPEN):c.3319A>G (p.Ile1107Val)	SPEN (I1107V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168933	NM_015001.3(SPEN):c.3398A>G (p.Tyr1133Cys)	SPEN (Y1133C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2368253	NM_015001.3(SPEN):c.3428G>A (p.Arg1143His)	SPEN (R1143H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381100	NM_015001.3(SPEN):c.3641C>T (p.Pro1214Leu)	SPEN (P1214L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280760	NM_015001.3(SPEN):c.3700G>A (p.Asp1234Asn)	SPEN (D1234N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2473706	NM_015001.3(SPEN):c.3721C>T (p.Arg1241Ter)	SPEN (R1241*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2400697	NM_015001.3(SPEN):c.3772A>T (p.Thr1258Ser)	SPEN (T1258S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360077	NM_015001.3(SPEN):c.3784C>T (p.Pro1262Ser)	SPEN (P1262S)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome +1 more	GUncertain significance
Select item 985376	NM_015001.3(SPEN):c.3793C>T (p.Arg1265Ter)	SPEN (R1265*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 2322526	NM_015001.3(SPEN):c.3820G>T (p.Asp1274Tyr)	SPEN (D1274Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265835	NM_015001.3(SPEN):c.3828A>G (p.Ile1276Met)	SPEN (I1276M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985171	NM_015001.3(SPEN):c.3976del (p.Lys1325_Ile1326insTer)	SPEN	Deletion (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2332072	NM_015001.3(SPEN):c.4070A>G (p.Asn1357Ser)	SPEN (N1357S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220268	NM_015001.3(SPEN):c.4150G>A (p.Glu1384Lys)	SPEN (E1384K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322153	NM_015001.3(SPEN):c.4171C>G (p.His1391Asp)	SPEN (H1391D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168935	NM_015001.3(SPEN):c.4247G>A (p.Arg1416His)	SPEN (R1416H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211660	NM_015001.3(SPEN):c.4424G>A (p.Arg1475Gln)	SPEN (R1475Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220686	NM_015001.3(SPEN):c.4550A>T (p.Glu1517Val)	SPEN (E1517V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3322158	NM_015001.3(SPEN):c.4717A>G (p.Thr1573Ala)	SPEN (T1573A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2601265	NM_015001.3(SPEN):c.4720G>A (p.Asp1574Asn)	SPEN (D1574N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237247	NM_015001.3(SPEN):c.4733A>T (p.Glu1578Val)	SPEN (E1578V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322163	NM_015001.3(SPEN):c.4775G>T (p.Arg1592Leu)	SPEN (R1592L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322147	NM_015001.3(SPEN):c.4775G>A (p.Arg1592Gln)	SPEN (R1592Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168936	NM_015001.3(SPEN):c.4870C>T (p.Pro1624Ser)	SPEN (P1624S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3322149	NM_015001.3(SPEN):c.4904C>T (p.Pro1635Leu)	SPEN (P1635L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2230364	NM_015001.3(SPEN):c.4949C>T (p.Ala1650Val)	SPEN (A1650V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609963	NM_015001.3(SPEN):c.4969A>G (p.Thr1657Ala)	SPEN (T1657A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168937	NM_015001.3(SPEN):c.4978G>A (p.Asp1660Asn)	SPEN (D1660N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334547	NM_015001.3(SPEN):c.4982A>G (p.Lys1661Arg)	SPEN (K1661R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168938	NM_015001.3(SPEN):c.4985C>T (p.Thr1662Met)	SPEN (T1662M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3168940	NM_015001.3(SPEN):c.5123C>A (p.Pro1708His)	SPEN (P1708H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168941	NM_015001.3(SPEN):c.5150C>T (p.Ala1717Val)	SPEN (A1717V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210296	NM_015001.3(SPEN):c.5185C>T (p.Pro1729Ser)	SPEN (P1729S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1683932	NM_015001.3(SPEN):c.5209A>C (p.Thr1737Pro)	SPEN (T1737P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3322151	NM_015001.3(SPEN):c.5212C>T (p.Pro1738Ser)	SPEN (P1738S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313815	NM_015001.3(SPEN):c.5215G>A (p.Gly1739Arg)	SPEN (G1739R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532995	NM_015001.3(SPEN):c.5234C>T (p.Ala1745Val)	SPEN (A1745V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2258635	NM_015001.3(SPEN):c.5317A>C (p.Lys1773Gln)	SPEN (K1773Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347623	NM_015001.3(SPEN):c.5335G>A (p.Ala1779Thr)	SPEN (A1779T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2227666	NM_015001.3(SPEN):c.5374G>A (p.Glu1792Lys)	SPEN (E1792K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2480267	NM_015001.3(SPEN):c.5399C>T (p.Pro1800Leu)	SPEN (P1800L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229492	NM_015001.3(SPEN):c.5564C>G (p.Ser1855Cys)	SPEN (S1855C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322154	NM_015001.3(SPEN):c.5566A>G (p.Asn1856Asp)	SPEN (N1856D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229817	NM_015001.3(SPEN):c.5592G>C (p.Lys1864Asn)	SPEN (K1864N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460764	NM_015001.3(SPEN):c.5646C>G (p.Asn1882Lys)	SPEN (N1882K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2590291	NM_015001.3(SPEN):c.5664A>T (p.Glu1888Asp)	SPEN (E1888D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168942	NM_015001.3(SPEN):c.5719G>A (p.Val1907Ile)	SPEN (V1907I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393026	NM_015001.3(SPEN):c.5747A>G (p.Asn1916Ser)	SPEN (N1916S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2240179	NM_015001.3(SPEN):c.5749C>T (p.Arg1917Cys)	SPEN (R1917C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532404	NM_015001.3(SPEN):c.5861C>G (p.Pro1954Arg)	SPEN (P1954R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308472	NM_015001.3(SPEN):c.5905A>G (p.Lys1969Glu)	SPEN (K1969E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523465	NM_015001.3(SPEN):c.5911C>T (p.Pro1971Ser)	SPEN (P1971S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315231	NM_015001.3(SPEN):c.5920A>G (p.Thr1974Ala)	SPEN (T1974A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274158	NM_015001.3(SPEN):c.5951C>A (p.Pro1984Gln)	SPEN (P1984Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322152	NM_015001.3(SPEN):c.5975G>T (p.Gly1992Val)	SPEN (G1992V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1691058	NM_015001.3(SPEN):c.5981G>T (p.Gly1994Val)	SPEN (G1994V)	Single nucleotide variant (missense variant)	See cases +1 more	GConflicting classifications of pathogenicity
Select item 3322142	NM_015001.3(SPEN):c.6011C>T (p.Pro2004Leu)	SPEN (P2004L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539700	NM_015001.3(SPEN):c.6028C>T (p.Arg2010Cys)	SPEN (R2010C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3168943	NM_015001.3(SPEN):c.6061del (p.Gln2020_Ile2021insTer)	SPEN	Deletion (nonsense)	Inborn genetic diseases	GPathogenic

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