Related gene-specific medical variations for Gene (Select 6942) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3337294	NM_001378418.1:c.5749+4143_*45-2982del	TCF20	Deletion	not provided	GPathogenic
Select item 3248112	NC_000022.10:g.(?_42564659)_(42575728_?)dup	TCF20	Duplication	not provided	GLikely benign
Select item 3248110	NC_000022.10:g.(?_42575595)_(42575728_?)dup	TCF20	Duplication	not provided	GPathogenic
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 2690228	NM_001378418.1(TCF20):c.3133C>T (p.Arg1045Trp)	TCF20 (R1045W)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2664035	NM_001378418.1(TCF20):c.5006C>G (p.Ser1669Ter)	TCF20 (S1669*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 2437021	NM_001378418.1(TCF20):c.1461G>T (p.Lys487Asn)	TCF20 (K487N)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437020	NM_001378418.1(TCF20):c.5445C>T (p.Gly1815=)	TCF20	Single nucleotide variant (synonymous variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437019	NM_001378418.1(TCF20):c.4981G>A (p.Val1661Met)	TCF20 (V1661M)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437018	NM_001378418.1(TCF20):c.34G>A (p.Gly12Arg)	TCF20 (G12R)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437016	NM_001378418.1(TCF20):c.4379C>A (p.Pro1460His)	TCF20 (P1460H)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437015	NM_001378418.1(TCF20):c.3398G>A (p.Arg1133Gln)	TCF20 (R1133Q)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437014	NM_001378418.1(TCF20):c.4858C>T (p.Pro1620Ser)	TCF20 (P1620S)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437013	NM_001378418.1(TCF20):c.5402C>G (p.Ser1801Cys)	TCF20 (S1801C)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437011	NM_001378418.1(TCF20):c.5344G>A (p.Ala1782Thr)	TCF20 (A1782T)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437010	NM_001378418.1(TCF20):c.4367C>G (p.Ala1456Gly)	TCF20 (A1456G)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437008	NM_001378418.1(TCF20):c.5702A>G (p.Asn1901Ser)	TCF20 (N1901S)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437007	NM_001378418.1(TCF20):c.2996A>T (p.Glu999Val)	TCF20 (E999V)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437006	NM_001378418.1(TCF20):c.1484C>G (p.Ala495Gly)	TCF20 (A495G)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437003	NM_001378418.1(TCF20):c.1852G>A (p.Glu618Lys)	TCF20 (E618K)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437002	NM_001378418.1(TCF20):c.1378A>T (p.Ser460Cys)	TCF20 (S460C)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2437000	NM_001378418.1(TCF20):c.1085A>C (p.Gln362Pro)	TCF20 (Q362P)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2436998	NM_001378418.1(TCF20):c.2045A>G (p.Gln682Arg)	TCF20 (Q682R)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2436997	NM_001378418.1(TCF20):c.1258C>T (p.Pro420Ser)	TCF20 (P420S)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 2436996	NM_001378418.1(TCF20):c.2518C>G (p.Pro840Ala)	TCF20 (P840A)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GConflicting classifications of pathogenicity
Select item 2429892	NM_001378418.1(TCF20):c.5555T>G (p.Phe1852Cys)	TCF20 (F1852C)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429891	NM_001378418.1(TCF20):c.3424G>A (p.Gly1142Ser)	TCF20 (G1142S)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2428715	NM_001378418.1(TCF20):c.4886A>G (p.Lys1629Arg)	TCF20 (K1629R)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 1803711	NM_001378418.1(TCF20):c.5143C>T (p.Arg1715Trp)	TCF20 (R1715W)	Single nucleotide variant (missense variant)	TCF20-related neurodevelopmental disorder	GUncertain significance
Select item 1701649	NM_001378418.1(TCF20):c.1121C>T (p.Ala374Val)	TCF20 (A374V)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 1700131	NM_001378418.1(TCF20):c.3119C>G (p.Ser1040Ter)	TCF20 (S1040*)	Single nucleotide variant (nonsense)	Neurodevelopmental delay	GPathogenic
Select item 1676561	NM_005650.4(TCF20):c.5521C>A (p.Gln1841Lys)	TCF20 (Q1841K)	Single nucleotide variant	Developmental delay with variable intellectual impairment and behavioral abnormalities	GLikely pathogenic
Select item 1676493	NM_005650.4(TCF20):c.3924C>G (p.Ile1308Met)	TCF20 (I1308M)	Single nucleotide variant	not provided	GUncertain significance
Select item 1342405	NM_001378418.1(TCF20):c.565C>T (p.Gln189Ter)	TCF20 (Q189*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 1325604	NM_001378418.1(TCF20):c.*44+8G>A	TCF20	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1323680	NM_001378418.1(TCF20):c.5559G>A (p.Trp1853Ter)	TCF20 (W1853*)	Single nucleotide variant (nonsense)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 1188821	NM_001378418.1(TCF20):c.1656dup (p.Ser553fs)	TCF20 (S553fs)	Duplication (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 1184923	NM_001378418.1(TCF20):c.4418_4419dup (p.Ser1474fs)	TCF20 (S1474fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 996835	NM_001378418.1(TCF20):c.256G>A (p.Ala86Thr)	TCF20 (A86T)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance
Select item 977451	NM_001378418.1(TCF20):c.4237_4241delinsCAGCT (p.Ala1413_Ser1414delinsGlnLeu)	TCF20	Indel (missense variant)	Intellectual disability +1 more	GUncertain significance
Select item 975623	NM_001378418.1(TCF20):c.4982_4985del (p.Val1661fs)	TCF20 (V1661fs)	Deletion (frameshift variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 930483	NM_001378418.1(TCF20):c.4115G>A (p.Ser1372Asn)	TCF20 (S1372N)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities	GUncertain significance

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Links from Gene

Items: 52