ClinVar for Gene (Select 23013) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 622

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370227	NM_015001.3(SPEN):c.5159A>G (p.Glu1720Gly)	SPEN (E1720G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370108	NM_015001.3(SPEN):c.889T>C (p.Ser297Pro)	SPEN (S297P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370092	NM_015001.3(SPEN):c.9484T>C (p.Tyr3162His)	SPEN (Y3162H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370034	NM_015001.3(SPEN):c.10775C>A (p.Thr3592Asn)	SPEN (T3592N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369610	NM_015001.3(SPEN):c.1454A>T (p.Asp485Val)	SPEN (D485V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369446	NM_015001.3(SPEN):c.4525G>T (p.Asp1509Tyr)	SPEN (D1509Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369438	NM_015001.3(SPEN):c.10292T>C (p.Phe3431Ser)	SPEN (F3431S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369000	NM_015001.3(SPEN):c.10507A>G (p.Lys3503Glu)	SPEN (K3503E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368522	NM_015001.3(SPEN):c.8419C>T (p.Arg2807Cys)	SPEN (R2807C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368437	NM_015001.3(SPEN):c.7987G>C (p.Val2663Leu)	SPEN (V2663L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367899	NM_015001.3(SPEN):c.8420G>A (p.Arg2807His)	SPEN (R2807H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367722	NM_015001.3(SPEN):c.9223C>G (p.Gln3075Glu)	SPEN (Q3075E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367613	NM_015001.3(SPEN):c.5471C>T (p.Ser1824Leu)	SPEN (S1824L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367428	NM_015001.3(SPEN):c.8605A>G (p.Lys2869Glu)	SPEN (K2869E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366955	NM_015001.3(SPEN):c.7115_7116del (p.Gly2372fs)	SPEN (G2372fs)	Deletion (frameshift variant)	Radio-Tartaglia syndrome	GPathogenic
Select item 3366202	NM_015001.3(SPEN):c.991C>A (p.Pro331Thr)	SPEN (P331T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365304	NM_015001.3(SPEN):c.10177A>C (p.Lys3393Gln)	SPEN (K3393Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365067	NM_015001.3(SPEN):c.9068C>T (p.Ala3023Val)	SPEN (A3023V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364964	NM_015001.3(SPEN):c.10465C>T (p.His3489Tyr)	SPEN (H3489Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364583	NM_015001.3(SPEN):c.5669C>G (p.Pro1890Arg)	SPEN (P1890R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363393	NM_015001.3(SPEN):c.1850G>A (p.Arg617Lys)	SPEN (R617K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363325	NM_015001.3(SPEN):c.9032G>C (p.Arg3011Pro)	SPEN (R3011P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363297	NM_015001.3(SPEN):c.562A>T (p.Ser188Cys)	SPEN (S188C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363187	NM_015001.3(SPEN):c.10026+1G>T	SPEN	Single nucleotide variant (splice donor variant)	Radio-Tartaglia syndrome	GPathogenic
Select item 3361812	NM_015001.3(SPEN):c.9808C>T (p.Leu3270Phe)	SPEN (L3270F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361305	NM_015001.3(SPEN):c.4615G>C (p.Asp1539His)	SPEN (D1539H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359840	NM_015001.3(SPEN):c.8273G>C (p.Gly2758Ala)	SPEN (G2758A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358999	NM_015001.3(SPEN):c.9031C>T (p.Arg3011Ter)	SPEN (R3011*)	Single nucleotide variant (nonsense)	Radio-Tartaglia syndrome	GPathogenic
Select item 3358998	NM_015001.3(SPEN):c.3682_3686del (p.Lys1228fs)	SPEN (K1228fs)	Microsatellite (frameshift variant)	Radio-Tartaglia syndrome	GPathogenic
Select item 3357809	NM_015001.3(SPEN):c.3773C>G (p.Thr1258Ser)	SPEN (T1258S)	Single nucleotide variant (missense variant)	SPEN-related disorder	GLikely benign
Select item 3356851	NM_015001.3(SPEN):c.5269C>A (p.Gln1757Lys)	SPEN (Q1757K)	Single nucleotide variant (missense variant)	SPEN-related disorder	GUncertain significance
Select item 3356646	NM_015001.3(SPEN):c.6217T>C (p.Ser2073Pro)	SPEN (S2073P)	Single nucleotide variant (missense variant)	SPEN-related disorder	GUncertain significance
Select item 3355357	NM_015001.3(SPEN):c.424C>T (p.Arg142Cys)	SPEN (R142C)	Single nucleotide variant (missense variant)	SPEN-related disorder	GUncertain significance
Select item 3355069	NM_015001.3(SPEN):c.1366A>C (p.Asn456His)	SPEN (N456H)	Single nucleotide variant (missense variant)	SPEN-related disorder	GUncertain significance
Select item 3352317	NM_015001.3(SPEN):c.4815A>G (p.Lys1605=)	SPEN	Single nucleotide variant (synonymous variant)	SPEN-related disorder	GLikely benign
Select item 3351379	NM_015001.3(SPEN):c.10859A>G (p.Asn3620Ser)	SPEN (N3620S)	Single nucleotide variant (missense variant)	SPEN-related disorder	GLikely benign
Select item 3350949	NM_015001.3(SPEN):c.2319A>G (p.Arg773=)	SPEN	Single nucleotide variant (synonymous variant)	SPEN-related disorder	GLikely benign
Select item 3348323	NM_015001.3(SPEN):c.9541C>G (p.Gln3181Glu)	SPEN (Q3181E)	Single nucleotide variant (missense variant)	SPEN-related disorder	GUncertain significance
Select item 3347561	NM_015001.3(SPEN):c.9953C>T (p.Ala3318Val)	SPEN (A3318V)	Single nucleotide variant (missense variant)	SPEN-related disorder	GUncertain significance
Select item 3345938	NM_015001.3(SPEN):c.8858T>G (p.Ile2953Ser)	SPEN (I2953S)	Single nucleotide variant (missense variant)	SPEN-related disorder	GUncertain significance
Select item 3344957	NM_015001.3(SPEN):c.3008A>G (p.Lys1003Arg)	SPEN (K1003R)	Single nucleotide variant (missense variant)	SPEN-related disorder	GUncertain significance
Select item 3344915	NM_015001.3(SPEN):c.9077C>T (p.Pro3026Leu)	SPEN (P3026L)	Single nucleotide variant (missense variant)	SPEN-related disorder	GUncertain significance
Select item 3344861	NM_015001.3(SPEN):c.4268C>G (p.Ser1423Cys)	SPEN (S1423C)	Single nucleotide variant (missense variant)	SPEN-related disorder	GUncertain significance
Select item 3344122	NM_015001.3(SPEN):c.1994A>G (p.Gln665Arg)	SPEN (Q665R)	Single nucleotide variant (missense variant)	SPEN-related disorder	GUncertain significance
Select item 3343958	NM_015001.3(SPEN):c.4246C>T (p.Arg1416Cys)	SPEN (R1416C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343428	NM_015001.3(SPEN):c.8588C>T (p.Ala2863Val)	SPEN (A2863V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343246	NM_015001.3(SPEN):c.4731A>C (p.Gln1577His)	SPEN (Q1577H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341489	NM_015001.3(SPEN):c.4764G>A (p.Met1588Ile)	SPEN (M1588I)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 3339903	NM_015001.3(SPEN):c.2612G>A (p.Arg871His)	SPEN (R871H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337659	NM_015001.3(SPEN):c.8406_8407del (p.Ala2804fs)	SPEN (A2804fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 3322162	NM_015001.3(SPEN):c.8083G>A (p.Gly2695Arg)	SPEN (G2695R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322161	NM_015001.3(SPEN):c.10004C>G (p.Ser3335Cys)	SPEN (S3335C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322160	NM_015001.3(SPEN):c.7345A>G (p.Arg2449Gly)	SPEN (R2449G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322159	NM_015001.3(SPEN):c.7195A>G (p.Thr2399Ala)	SPEN (T2399A)	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 3322157	NM_015001.3(SPEN):c.581T>C (p.Phe194Ser)	SPEN (F194S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322156	NM_015001.3(SPEN):c.6077G>A (p.Ser2026Asn)	SPEN (S2026N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3322154	NM_015001.3(SPEN):c.5566A>G (p.Asn1856Asp)	SPEN (N1856D)	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 3322152	NM_015001.3(SPEN):c.5975G>T (p.Gly1992Val)	SPEN (G1992V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3322150	NM_015001.3(SPEN):c.10381A>G (p.Thr3461Ala)	SPEN (T3461A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3322148	NM_015001.3(SPEN):c.6623A>G (p.His2208Arg)	SPEN (H2208R)	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 3322146	NM_015001.3(SPEN):c.6394G>A (p.Gly2132Ser)	SPEN (G2132S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3322145	NM_015001.3(SPEN):c.7022A>G (p.Lys2341Arg)	SPEN (K2341R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322144	NM_015001.3(SPEN):c.8804G>C (p.Gly2935Ala)	SPEN (G2935A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322143	NM_015001.3(SPEN):c.8948C>T (p.Thr2983Met)	SPEN (T2983M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3322141	NM_015001.3(SPEN):c.1304A>G (p.Lys435Arg)	SPEN (K435R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322140	NM_015001.3(SPEN):c.6658G>A (p.Gly2220Ser)	SPEN (G2220S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3258020	NM_015001.3(SPEN):c.4252C>T (p.Arg1418Ter)	SPEN (R1418*)	Single nucleotide variant (nonsense)	Neoplasm	OLikely oncogenic
Select item 3257751	NM_015001.3(SPEN):c.2873_2874delinsGC	SPEN (L958R)	Single nucleotide variant (missense variant +1 more)	Neoplasm	OUncertain significance
Select item 3257674	NM_015001.3(SPEN):c.10872C>T (p.Tyr3624=)	SPEN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3257053	NM_015001.3(SPEN):c.7298C>T (p.Pro2433Leu)	SPEN (P2433L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3257008	NM_015001.3(SPEN):c.7722G>A (p.Pro2574=)	SPEN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3255068	NM_015001.3(SPEN):c.275A>G (p.Asp92Gly)	SPEN (D92G)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 3253124	NM_015001.3(SPEN):c.956C>T (p.Thr319Ile)	SPEN (T319I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253063	NM_015001.3(SPEN):c.7768G>A (p.Val2590Met)	SPEN (V2590M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252096	NM_015001.3(SPEN):c.1967_1968del (p.Glu656fs)	SPEN (E656fs)	Microsatellite (frameshift variant)	Radio-Tartaglia syndrome	GLikely pathogenic
Select item 3251457	NM_015001.3(SPEN):c.5576G>A (p.Arg1859Gln)	SPEN (R1859Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251352	NM_015001.3(SPEN):c.10250C>G (p.Thr3417Ser)	SPEN (T3417S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250845	NM_015001.3(SPEN):c.7390G>A (p.Asp2464Asn)	SPEN (D2464N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250613	NM_015001.3(SPEN):c.8307G>A (p.Pro2769=)	SPEN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3233676	NM_015001.3(SPEN):c.8169C>G (p.Gly2723=)	SPEN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3168968	NM_015001.3(SPEN):c.9968C>T (p.Thr3323Ile)	SPEN (T3323I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168967	NM_015001.3(SPEN):c.9748G>A (p.Val3250Ile)	SPEN (V3250I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168966	NM_015001.3(SPEN):c.9737C>T (p.Thr3246Ile)	SPEN (T3246I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168965	NM_015001.3(SPEN):c.9730A>G (p.Thr3244Ala)	SPEN (T3244A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3168964	NM_015001.3(SPEN):c.9559C>T (p.His3187Tyr)	SPEN (H3187Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168963	NM_015001.3(SPEN):c.9277C>G (p.Leu3093Val)	SPEN (L3093V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3168962	NM_015001.3(SPEN):c.9016A>G (p.Ser3006Gly)	SPEN (S3006G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3168961	NM_015001.3(SPEN):c.8997C>G (p.Asn2999Lys)	SPEN (N2999K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3168960	NM_015001.3(SPEN):c.8521A>G (p.Ser2841Gly)	SPEN (S2841G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3168959	NM_015001.3(SPEN):c.8387G>A (p.Arg2796His)	SPEN (R2796H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 7