ClinVar for Gene (Select 6942) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 3061067	NM_001378418.1(TCF20):c.419A>G (p.Gln140Arg)	TCF20 (Q140R)	Single nucleotide variant (missense variant)	TCF20-related condition	GUncertain significance
Select item 3056920	NM_001378418.1(TCF20):c.*2G>T	TCF20	Single nucleotide variant (3 prime UTR variant +1 more)	TCF20-related condition	GLikely benign
Select item 3056897	NM_001378418.1(TCF20):c.2217T>C (p.His739=)	TCF20	Single nucleotide variant (synonymous variant)	TCF20-related condition	GLikely benign
Select item 3049912	NM_001378418.1(TCF20):c.5655+10A>T	TCF20	Single nucleotide variant (intron variant)	TCF20-related condition	GLikely benign
Select item 3030856	NM_001378418.1(TCF20):c.3731A>T (p.Asp1244Val)	TCF20 (D1244V)	Single nucleotide variant (missense variant)	TCF20-related condition	GUncertain significance
Select item 3030723	NM_001378418.1(TCF20):c.4440T>C (p.Asp1480=)	TCF20	Single nucleotide variant (synonymous variant)	TCF20-related condition	GLikely benign
Select item 3029337	NM_001378418.1(TCF20):c.3354G>A (p.Gly1118=)	TCF20	Single nucleotide variant (synonymous variant)	TCF20-related condition	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	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 +1 more	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
Select item 3004807	NM_001378418.1(TCF20):c.3069C>T (p.Ser1023=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003597	NM_001378418.1(TCF20):c.4525C>T (p.Pro1509Ser)	TCF20 (P1509S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003370	NM_001378418.1(TCF20):c.331C>T (p.Pro111Ser)	TCF20 (P111S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3002649	NM_001378418.1(TCF20):c.3829A>G (p.Ser1277Gly)	TCF20 (S1277G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002417	NM_001378418.1(TCF20):c.880C>T (p.Pro294Ser)	TCF20 (P294S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000821	NM_001378418.1(TCF20):c.918A>G (p.Pro306=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999126	NM_001378418.1(TCF20):c.3542C>A (p.Ser1181Tyr)	TCF20 (S1181Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998402	NM_001378418.1(TCF20):c.631A>G (p.Met211Val)	TCF20 (M211V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997367	NM_001378418.1(TCF20):c.3641C>T (p.Pro1214Leu)	TCF20 (P1214L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996922	NM_001378418.1(TCF20):c.3954G>A (p.Lys1318=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995513	NM_001378418.1(TCF20):c.5749+7_5749+8dup	TCF20	Duplication (intron variant)	not provided	GLikely benign
Select item 2995461	NM_001378418.1(TCF20):c.1577G>A (p.Ser526Asn)	TCF20 (S526N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995026	NM_001378418.1(TCF20):c.600A>G (p.Gln200=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992759	NM_001378418.1(TCF20):c.5841C>G (p.Thr1947=)	TCF20	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2992249	NM_001378418.1(TCF20):c.5466G>A (p.Leu1822=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991690	NM_001378418.1(TCF20):c.2062G>A (p.Ala688Thr)	TCF20 (A688T)	Single nucleotide variant (missense variant)	TCF20-related condition +1 more	GUncertain significance
Select item 2991259	NM_001378418.1(TCF20):c.1741G>A (p.Ala581Thr)	TCF20 (A581T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990456	NM_001378418.1(TCF20):c.5634G>A (p.Ala1878=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990090	NM_001378418.1(TCF20):c.5568G>A (p.Glu1856=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989917	NM_001378418.1(TCF20):c.2960C>T (p.Pro987Leu)	TCF20 (P987L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2989395	NM_001378418.1(TCF20):c.2761C>T (p.Leu921=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989052	NM_001378418.1(TCF20):c.1851A>G (p.Val617=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987989	NM_001378418.1(TCF20):c.750A>G (p.Pro250=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987890	NM_001378418.1(TCF20):c.5655+16C>A	TCF20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987594	NM_001378418.1(TCF20):c.2140G>A (p.Gly714Arg)	TCF20 (G714R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986176	NM_001378418.1(TCF20):c.32A>G (p.His11Arg)	TCF20 (H11R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2984983	NM_001378418.1(TCF20):c.2186C>T (p.Thr729Ile)	TCF20 (T729I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984402	NM_001378418.1(TCF20):c.62T>C (p.Val21Ala)	TCF20 (V21A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2983403	NM_001378418.1(TCF20):c.2886C>T (p.Arg962=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981839	NM_001378418.1(TCF20):c.4548C>A (p.Asn1516Lys)	TCF20 (N1516K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980963	NM_001378418.1(TCF20):c.4549G>A (p.Asp1517Asn)	TCF20 (D1517N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980957	NM_001378418.1(TCF20):c.729C>T (p.Ser243=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980781	NM_001378418.1(TCF20):c.765G>A (p.Gln255=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978249	NM_001378418.1(TCF20):c.5733G>A (p.Pro1911=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977647	NM_001378418.1(TCF20):c.786C>T (p.Gly262=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977218	NM_001378418.1(TCF20):c.3013T>C (p.Ser1005Pro)	TCF20 (S1005P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977078	NM_001378418.1(TCF20):c.5080G>A (p.Val1694Met)	TCF20 (V1694M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976274	NM_001378418.1(TCF20):c.3097A>T (p.Met1033Leu)	TCF20 (M1033L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974193	NM_001378418.1(TCF20):c.2976T>C (p.Pro992=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973832	NM_001378418.1(TCF20):c.4414C>T (p.Pro1472Ser)	TCF20 (P1472S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972652	NM_001378418.1(TCF20):c.203C>T (p.Ala68Val)	TCF20 (A68V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972156	NM_001378418.1(TCF20):c.3231A>G (p.Ala1077=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970821	NM_001378418.1(TCF20):c.5655+17T>G	TCF20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970634	NM_001378418.1(TCF20):c.4823A>G (p.Gln1608Arg)	TCF20 (Q1608R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969281	NM_001378418.1(TCF20):c.5618A>G (p.Tyr1873Cys)	TCF20 (Y1873C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967599	NM_001378418.1(TCF20):c.2538A>C (p.Glu846Asp)	TCF20 (E846D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967534	NM_001378418.1(TCF20):c.4494T>C (p.Pro1498=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2964625	NM_001378418.1(TCF20):c.1077G>A (p.Gln359=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963606	NM_001378418.1(TCF20):c.5372G>A (p.Arg1791His)	TCF20 (R1791H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2963458	NM_001378418.1(TCF20):c.3932T>C (p.Ile1311Thr)	TCF20 (I1311T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962173	NM_001378418.1(TCF20):c.2572G>A (p.Gly858Ser)	TCF20 (G858S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2960763	NM_001378418.1(TCF20):c.1581A>G (p.Ser527=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959646	NM_001378418.1(TCF20):c.4548C>T (p.Asn1516=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958676	NM_001378418.1(TCF20):c.5109G>A (p.Leu1703=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955626	NM_001378418.1(TCF20):c.5720G>A (p.Arg1907Gln)	TCF20 (R1907Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2921143	NM_001378418.1(TCF20):c.5451T>G (p.Ser1817Arg)	TCF20 (S1817R)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2919381	NM_001378418.1(TCF20):c.5588A>G (p.Asn1863Ser)	TCF20 (N1863S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2917593	NM_001378418.1(TCF20):c.4291C>G (p.Pro1431Ala)	TCF20 (P1431A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912880	NM_001378418.1(TCF20):c.2510C>G (p.Thr837Ser)	TCF20 (T837S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2911185	NM_001378418.1(TCF20):c.2265A>G (p.Glu755=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2910779	NM_001378418.1(TCF20):c.2148C>A (p.Ala716=)	TCF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907892	NM_001378418.1(TCF20):c.2483C>T (p.Ala828Val)	TCF20 (A828V)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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