"GeneDx"[submitter] AND "TCF20"[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2574818	NM_001378418.1(TCF20):c.5825_5826del (p.Pro1942fs)	TCF20 (P1942fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1809892	NM_001378418.1(TCF20):c.5807T>C (p.Leu1936Pro)	TCF20 (L1936P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 590780	NM_001378418.1(TCF20):c.5725C>T (p.His1909Tyr)	TCF20 (H1909Y)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GPathogenic
Select item 1339198	NM_001378418.1(TCF20):c.5583G>A (p.Trp1861Ter)	TCF20 (W1861*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities +1 more	GPathogenic/Likely pathogenic
Select item 2576836	NM_001378418.1(TCF20):c.5384G>A (p.Cys1795Tyr)	TCF20 (C1795Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311021	NM_001378418.1(TCF20):c.5213C>T (p.Pro1738Leu)	TCF20 (P1738L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686727	NM_001378418.1(TCF20):c.5176C>T (p.Pro1726Ser)	TCF20 (P1726S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1201429	NM_001378418.1(TCF20):c.5173dup (p.Tyr1725fs)	TCF20 (Y1725fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1696878	NM_001378418.1(TCF20):c.4997G>A (p.Gly1666Asp)	TCF20 (G1666D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800520	NM_001378418.1(TCF20):c.4850C>T (p.Ala1617Val)	TCF20 (A1617V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 599647	NM_001378418.1(TCF20):c.4786C>T (p.Arg1596Ter)	TCF20 (R1596*)	Single nucleotide variant (nonsense)	Neurodevelopmental abnormality	GPathogenic
Select item 599643	NM_001378418.1(TCF20):c.4741_4742del (p.Arg1581fs)	TCF20 (R1581fs)	Microsatellite (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities +1 more	GPathogenic
Select item 2571818	NM_001378418.1(TCF20):c.4737del (p.Lys1579fs)	TCF20 (K1579fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2577687	NM_001378418.1(TCF20):c.4696A>T (p.Ile1566Leu)	TCF20 (I1566L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678686	NM_001378418.1(TCF20):c.4468A>G (p.Ile1490Val)	TCF20 (I1490V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698100	NM_001378418.1(TCF20):c.4346C>T (p.Thr1449Ile)	TCF20 (T1449I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800746	NM_001378418.1(TCF20):c.4204G>A (p.Asp1402Asn)	TCF20 (D1402N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804283	NM_001378418.1(TCF20):c.4113C>G (p.Asn1371Lys)	TCF20 (N1371K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702567	NM_001378418.1(TCF20):c.3995C>A (p.Thr1332Asn)	TCF20 (T1332N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804390	NM_001378418.1(TCF20):c.3986C>G (p.Pro1329Arg)	TCF20 (P1329R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 714840	NM_001378418.1(TCF20):c.3974G>A (p.Ser1325Asn)	TCF20 (S1325N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1314599	NM_001378418.1(TCF20):c.3893C>T (p.Ser1298Phe)	TCF20 (S1298F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577756	NM_001378418.1(TCF20):c.3785C>T (p.Ser1262Phe)	TCF20 (S1262F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497987	NM_001378418.1(TCF20):c.3633G>T (p.Arg1211Ser)	TCF20 (R1211S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684138	NM_001378418.1(TCF20):c.3544C>G (p.Gln1182Glu)	TCF20 (Q1182E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 599644	NM_001378418.1(TCF20):c.3486dup (p.Cys1163fs)	TCF20 (C1163fs)	Duplication (frameshift variant)	Neurodevelopmental abnormality	GPathogenic
Select item 2580818	NM_001378418.1(TCF20):c.3460G>C (p.Asp1154His)	TCF20 (D1154H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700358	NM_001378418.1(TCF20):c.3401G>C (p.Ser1134Thr)	TCF20 (S1134T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311352	NM_001378418.1(TCF20):c.3397C>G (p.Arg1133Gly)	TCF20 (R1133G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428994	NM_001378418.1(TCF20):c.3319G>A (p.Gly1107Arg)	TCF20 (G1107R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504900	NM_001378418.1(TCF20):c.3211_3212delinsAT (p.Ala1071Ile)	TCF20 (A1071I)	Indel (missense variant)	not provided	GUncertain significance
Select item 1313435	NM_001378418.1(TCF20):c.3041A>G (p.Glu1014Gly)	TCF20 (E1014G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817483	NM_001378418.1(TCF20):c.3004del (p.Arg1002fs)	TCF20 (R1002fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2663729	NM_001378418.1(TCF20):c.2962A>G (p.Met988Val)	TCF20 (M988V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 599645	NM_001378418.1(TCF20):c.2883C>G (p.Tyr961Ter)	TCF20 (Y961*)	Single nucleotide variant (nonsense)	Neurodevelopmental abnormality	GPathogenic
Select item 2443515	NM_001378418.1(TCF20):c.2803C>A (p.Gln935Lys)	TCF20 (Q935K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575581	NM_001378418.1(TCF20):c.2704C>T (p.Pro902Ser)	TCF20 (P902S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712816	NM_001378418.1(TCF20):c.2695C>T (p.Arg899Cys)	TCF20 (R899C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504953	NM_001378418.1(TCF20):c.2687G>C (p.Arg896Thr)	TCF20 (R896T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 729353	NM_001378418.1(TCF20):c.2661C>T (p.His887=)	TCF20	Single nucleotide variant (synonymous variant)	TCF20-related condition +1 more	GBenign
Select item 1309419	NM_001378418.1(TCF20):c.2566C>T (p.Pro856Ser)	TCF20 (P856S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500465	NM_001378418.1(TCF20):c.2446C>T (p.His816Tyr)	TCF20 (H816Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1333553	NM_001378418.1(TCF20):c.2260C>T (p.Gln754Ter)	TCF20 (Q754*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities +1 more	GPathogenic
Select item 521787	NM_001378418.1(TCF20):c.2224C>T (p.Arg742Ter)	TCF20 (R742*)	Single nucleotide variant (nonsense)	Neurodevelopmental abnormality +2 more	GPathogenic
Select item 2503392	NM_001378418.1(TCF20):c.2210C>G (p.Thr737Ser)	TCF20 (T737S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302773	NM_001378418.1(TCF20):c.2164A>G (p.Ser722Gly)	TCF20 (S722G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 599642	NM_001378418.1(TCF20):c.2155C>T (p.Arg719Ter)	TCF20 (R719*)	Single nucleotide variant (nonsense)	Neurodevelopmental abnormality	GPathogenic
Select item 599636	NM_001378418.1(TCF20):c.2088_2089del (p.Glu697fs)	TCF20 (E697fs)	Deletion (frameshift variant)	Neurodevelopmental abnormality	GPathogenic
Select item 599641	NM_001378418.1(TCF20):c.1960C>T (p.Gln654Ter)	TCF20 (Q654*)	Single nucleotide variant (nonsense)	Neurodevelopmental abnormality	GPathogenic
Select item 2499757	NM_001378418.1(TCF20):c.1934A>G (p.Lys645Arg)	TCF20 (K645R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 590779	NM_001378418.1(TCF20):c.1810_1811del (p.Val604fs)	TCF20 (V604fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 2580527	NM_001378418.1(TCF20):c.1766T>C (p.Met589Thr)	TCF20 (M589T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575878	NM_001378418.1(TCF20):c.1724C>G (p.Pro575Arg)	TCF20 (P575R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504312	NM_001378418.1(TCF20):c.1707del (p.Arg570fs)	TCF20 (R570fs)	Deletion (frameshift variant)	Neurodevelopmental abnormality	GPathogenic
Select item 1326701	NM_001378418.1(TCF20):c.1705C>T (p.Pro569Ser)	TCF20 (P569S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504357	NM_001378418.1(TCF20):c.1520C>A (p.Pro507His)	TCF20 (P507H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810148	NM_001378418.1(TCF20):c.1368G>T (p.Leu456Phe)	TCF20 (L456F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804355	NM_001378418.1(TCF20):c.1343T>C (p.Leu448Pro)	TCF20 (L448P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310839	NM_001378418.1(TCF20):c.1246C>T (p.Pro416Ser)	TCF20 (P416S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254348	NM_001378418.1(TCF20):c.1213A>G (p.Met405Val)	TCF20 (M405V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2663043	NM_001378418.1(TCF20):c.1191G>T (p.Gln397His)	TCF20 (Q397H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 599637	NM_001378418.1(TCF20):c.932_933del (p.Gln311fs)	TCF20 (Q311fs)	Deletion (frameshift variant)	Neurodevelopmental abnormality	GPathogenic
Select item 816998	NM_001378418.1(TCF20):c.869dup (p.Tyr290Ter)	TCF20 (Y290*)	Duplication (nonsense)	not provided	GPathogenic
Select item 1312370	NM_001378418.1(TCF20):c.809C>G (p.Ser270Cys)	TCF20 (S270C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711910	NM_001378418.1(TCF20):c.727_728delinsAT (p.Ser243Ile)	TCF20 (S243I)	Indel (missense variant)	not provided	GUncertain significance
Select item 599638	NM_001378418.1(TCF20):c.697C>T (p.Gln233Ter)	TCF20 (Q233*)	Single nucleotide variant (nonsense)	Neurodevelopmental abnormality	GPathogenic
Select item 599639	NM_001378418.1(TCF20):c.622del (p.Leu208fs)	TCF20 (L208fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1711961	NM_001378418.1(TCF20):c.429C>G (p.His143Gln)	TCF20 (H143Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 599640	NM_001378418.1(TCF20):c.364dup (p.Gln122fs)	TCF20 (Q122fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 954332	NM_001378418.1(TCF20):c.169G>A (p.Gly57Ser)	TCF20 (G57S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662257	NM_001378418.1(TCF20):c.64C>T (p.His22Tyr)	TCF20 (H22Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442542	NM_001378418.1(TCF20):c.55C>G (p.Gln19Glu)	TCF20 (Q19E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704742	NM_001378418.1(TCF20):c.27T>G (p.Ser9Arg)	TCF20 (S9R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878972	NM_001378418.1(TCF20):c.13C>T (p.Arg5Trp)	TCF20 (R5W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 253756	GRCh37/hg19 22q13.2(chr22:42207144-42776457)x1	SMDT1, NDUFA6 +13 more	Copy number loss	See cases	GUncertain significance
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 78