ClinVar for Gene (Select 6942) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368454	NM_001378418.1(TCF20):c.1359G>C (p.Leu453Phe)	TCF20 (L453F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368356	NM_001378418.1(TCF20):c.3103C>G (p.Pro1035Ala)	TCF20 (P1035A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367830	NM_001378418.1(TCF20):c.3326T>C (p.Ile1109Thr)	TCF20 (I1109T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367015	NM_001378418.1(TCF20):c.4103C>A (p.Ala1368Glu)	TCF20 (A1368E)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 3366862	NM_001378418.1(TCF20):c.1053G>C (p.Glu351Asp)	TCF20 (E351D)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 3364764	NM_001378418.1(TCF20):c.5633C>T (p.Ala1878Val)	TCF20 (A1878V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364212	NM_001378418.1(TCF20):c.4171_4173dup (p.Gly1391_Pro1392insGly)	TCF20	Duplication	not provided	GUncertain significance
Select item 3363401	NM_001378418.1(TCF20):c.4802C>T (p.Ala1601Val)	TCF20 (A1601V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362409	NM_001378418.1(TCF20):c.*44+11dup	TCF20	Duplication (intron variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 3362216	NM_001378418.1(TCF20):c.1502C>G (p.Ser501Cys)	TCF20 (S501C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361631	NM_001378418.1(TCF20):c.1166T>G (p.Leu389Arg)	TCF20 (L389R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360796	NM_001378418.1(TCF20):c.4048T>G (p.Leu1350Val)	TCF20 (L1350V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360738	NM_001378418.1(TCF20):c.2582C>A (p.Ser861Tyr)	TCF20 (S861Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360260	NM_001378418.1(TCF20):c.1351C>T (p.Pro451Ser)	TCF20 (P451S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360199	NM_001378418.1(TCF20):c.3431T>A (p.Met1144Lys)	TCF20 (M1144K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360022	NM_001378418.1(TCF20):c.3519G>C (p.Lys1173Asn)	TCF20 (K1173N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359736	NM_001378418.1(TCF20):c.1514C>T (p.Ser505Leu)	TCF20 (S505L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359312	NM_001378418.1(TCF20):c.5469C>G (p.Asp1823Glu)	TCF20 (D1823E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3355384	NM_001378418.1(TCF20):c.2281C>T (p.His761Tyr)	TCF20 (H761Y)	Single nucleotide variant (missense variant)	TCF20-related disorder	GLikely benign
Select item 3353812	NM_001378418.1(TCF20):c.5099T>C (p.Met1700Thr)	TCF20 (M1700T)	Single nucleotide variant (missense variant)	TCF20-related disorder	GUncertain significance
Select item 3348219	NM_001378418.1(TCF20):c.1735G>A (p.Glu579Lys)	TCF20 (E579K)	Single nucleotide variant (missense variant)	TCF20-related disorder	GUncertain significance
Select item 3343718	NM_001378418.1(TCF20):c.5806C>G (p.Leu1936Val)	TCF20 (L1936V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343154	NM_001378418.1(TCF20):c.2456C>T (p.Pro819Leu)	TCF20 (P819L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343022	NM_001378418.1(TCF20):c.2552_2553inv (p.Ser851Leu)	TCF20 (S851L)	Inversion (missense variant)	not provided	GUncertain significance
Select item 3342073	NM_001378418.1(TCF20):c.897T>C (p.Asn299=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341461	NM_001378418.1(TCF20):c.4175C>T (p.Pro1392Leu)	TCF20 (P1392L)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 3341310	NM_001378418.1(TCF20):c.3811C>T (p.Gln1271Ter)	TCF20 (Q1271*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GLikely pathogenic
Select item 3337294	NM_001378418.1:c.5749+4143_*45-2982del	TCF20	Deletion	not provided	GPathogenic
Select item 3336208	NM_001378418.1(TCF20):c.4507T>C (p.Leu1503=)	TCF20	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3324951	NM_001378418.1(TCF20):c.4198G>T (p.Val1400Phe)	TCF20 (V1400F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324950	NM_001378418.1(TCF20):c.5255G>A (p.Arg1752Gln)	TCF20 (R1752Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324949	NM_001378418.1(TCF20):c.2804A>G (p.Gln935Arg)	TCF20 (Q935R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324948	NM_001378418.1(TCF20):c.3310T>C (p.Ser1104Pro)	TCF20 (S1104P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324947	NM_001378418.1(TCF20):c.3202C>T (p.Arg1068Trp)	TCF20 (R1068W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324945	NM_001378418.1(TCF20):c.2497C>G (p.Gln833Glu)	TCF20 (Q833E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324944	NM_001378418.1(TCF20):c.5641A>G (p.Ile1881Val)	TCF20 (I1881V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3324943	NM_001378418.1(TCF20):c.275T>C (p.Met92Thr)	TCF20 (M92T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3324942	NM_001378418.1(TCF20):c.259G>A (p.Gly87Arg)	TCF20 (G87R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3257354	NM_001378418.1(TCF20):c.2498A>G (p.Gln833Arg)	TCF20 (Q833R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3255165	NM_001378418.1(TCF20):c.5719C>T (p.Arg1907Ter)	TCF20 (R1907*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 3253520	NM_001378418.1(TCF20):c.3958C>G (p.Leu1320Val)	TCF20 (L1320V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252740	NM_001378418.1(TCF20):c.5676G>C (p.Glu1892Asp)	TCF20 (E1892D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251524	NM_001378418.1(TCF20):c.1557A>C (p.Leu519Phe)	TCF20 (L519F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250993	NM_001378418.1(TCF20):c.3521G>A (p.Gly1174Asp)	TCF20 (G1174D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3248113	NC_000022.10:g.(?_42523805)_(42575728_?)dup	CYP2D6, TCF20	Duplication	not provided	GLikely benign
Select item 3248112	NC_000022.10:g.(?_42564659)_(42575728_?)dup	TCF20	Duplication	not provided	GLikely benign
Select item 3248111	NC_000022.10:g.(?_42564659)_(43089957_?)dup	POLDIP3, A4GALT +6 more	Duplication	not provided	GUncertain significance
Select item 3248110	NC_000022.10:g.(?_42575595)_(42575728_?)dup	TCF20	Duplication	not provided	GPathogenic
Select item 3248109	NC_000022.10:g.(?_42519405)_(42571594_?)del	CYP2D6, TCF20	Deletion	not provided	GPathogenic
Select item 3241990	NM_001378418.1(TCF20):c.4781G>A (p.Arg1594Lys)	TCF20 (R1594K)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 3235145	NM_001378418.1(TCF20):c.5124_5125del (p.Cys1708fs)	TCF20 (C1708fs)	Microsatellite (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 3235039	NM_001378418.1(TCF20):c.364C>A (p.Gln122Lys)	TCF20 (Q122K)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 3175120	NM_001378418.1(TCF20):c.5323A>G (p.Lys1775Glu)	TCF20 (K1775E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175119	NM_001378418.1(TCF20):c.4282A>G (p.Lys1428Glu)	TCF20 (K1428E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175118	NM_001378418.1(TCF20):c.4087A>G (p.Asn1363Asp)	TCF20 (N1363D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175117	NM_001378418.1(TCF20):c.3005G>A (p.Arg1002Lys)	TCF20 (R1002K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175116	NM_001378418.1(TCF20):c.2857C>A (p.Pro953Thr)	TCF20 (P953T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175114	NM_001378418.1(TCF20):c.2066G>A (p.Gly689Asp)	TCF20 (G689D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175113	NM_001378418.1(TCF20):c.1874A>G (p.Lys625Arg)	TCF20 (K625R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175111	NM_001378418.1(TCF20):c.1591G>A (p.Gly531Ser)	TCF20 (G531S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3175110	NM_001378418.1(TCF20):c.1283C>T (p.Pro428Leu)	TCF20 (P428L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148861	GRCh37/hg19 22q13.2(chr22:41591000-42869987)x1	ACO2, CCDC134 +29 more	Copy number loss	not provided	GUncertain significance
Select item 3068464	NM_001378418.1(TCF20):c.2779C>T (p.Gln927Ter)	TCF20 (Q927*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GLikely pathogenic
Select item 3068389	NM_001378418.1(TCF20):c.3553C>T (p.Gln1185Ter)	TCF20 (Q1185*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GLikely pathogenic
Select item 3068370	NM_001378418.1(TCF20):c.5133G>A (p.Trp1711Ter)	TCF20 (W1711*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 3067384	NM_001378418.1(TCF20):c.3151C>T (p.Pro1051Ser)	TCF20 (P1051S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3065731	NM_001378418.1(TCF20):c.3362dup (p.Ser1122fs)	TCF20 (S1122fs)	Duplication (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GLikely pathogenic
Select item 3063852	NM_001378418.1(TCF20):c.1655C>T (p.Ala552Val)	TCF20 (A552V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 3061750	NM_001378418.1(TCF20):c.3083dup (p.Asp1029fs)	TCF20 (D1029fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 3061067	NM_001378418.1(TCF20):c.419A>G (p.Gln140Arg)	TCF20 (Q140R)	Single nucleotide variant (missense variant)	TCF20-related disorder	GUncertain significance
Select item 3056920	NM_001378418.1(TCF20):c.*2G>T	TCF20	Single nucleotide variant (3 prime UTR variant +1 more)	TCF20-related disorder	GLikely benign
Select item 3056897	NM_001378418.1(TCF20):c.2217T>C (p.His739=)	TCF20	Single nucleotide variant (synonymous variant)	TCF20-related disorder	GLikely benign
Select item 3049912	NM_001378418.1(TCF20):c.5655+10A>T	TCF20	Single nucleotide variant (intron variant)	TCF20-related disorder	GLikely benign
Select item 3030856	NM_001378418.1(TCF20):c.3731A>T (p.Asp1244Val)	TCF20 (D1244V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3030723	NM_001378418.1(TCF20):c.4440T>C (p.Asp1480=)	TCF20	Single nucleotide variant (synonymous variant)	TCF20-related disorder	GLikely benign
Select item 3029337	NM_001378418.1(TCF20):c.3354G>A (p.Gly1118=)	TCF20	Single nucleotide variant (synonymous variant)	TCF20-related disorder	GLikely benign
Select item 3026804	NM_001378418.1(TCF20):c.4228G>T (p.Gly1410Cys)	TCF20 (G1410C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026696	NM_001378418.1(TCF20):c.5570del (p.Gly1857fs)	TCF20 (G1857fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3025854	NM_001378418.1(TCF20):c.3485G>A (p.Arg1162His)	TCF20 (R1162H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025718	NM_001378418.1(TCF20):c.1923TGG[1] (p.Gly643del)	TCF20 (G643del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3024326	NM_001378418.1(TCF20):c.3504del (p.Asp1168fs)	TCF20 (D1168fs)	Deletion (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 3024308	NM_001378418.1(TCF20):c.3244C>T (p.Gln1082Ter)	TCF20 (Q1082*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 3024019	NM_001378418.1(TCF20):c.242G>T (p.Gly81Val)	TCF20 (G81V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3023996	NM_001378418.1(TCF20):c.318T>C (p.Pro106=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023439	NM_001378418.1(TCF20):c.3348G>C (p.Gln1116His)	TCF20 (Q1116H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023351	NM_001378418.1(TCF20):c.2322G>A (p.Glu774=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021999	NM_001378418.1(TCF20):c.953C>T (p.Pro318Leu)	TCF20 (P318L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021321	NM_001378418.1(TCF20):c.63A>T (p.Val21=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020797	NM_001378418.1(TCF20):c.4812T>G (p.Ile1604Met)	TCF20 (I1604M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017630	NM_001378418.1(TCF20):c.1680G>A (p.Pro560=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015690	NM_001378418.1(TCF20):c.936GCA[6] (p.Gln317_Pro318insGln)	TCF20	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 3015407	NM_001378418.1(TCF20):c.2079G>A (p.Thr693=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015403	NM_001378418.1(TCF20):c.5481C>T (p.Ser1827=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015379	NM_001378418.1(TCF20):c.2771A>G (p.Gln924Arg)	TCF20 (Q924R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3013936	NM_001378418.1(TCF20):c.2156G>A (p.Arg719Gln)	TCF20 (R719Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3010269	NM_001378418.1(TCF20):c.4512C>T (p.Ala1504=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009491	NM_001378418.1(TCF20):c.851A>C (p.Tyr284Ser)	TCF20 (Y284S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008359	NM_001378418.1(TCF20):c.3711G>T (p.Leu1237=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008040	NM_001378418.1(TCF20):c.5655+13A>C	TCF20	Single nucleotide variant (intron variant)	not provided	GLikely benign

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