C5193092[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 1485259	NM_001378418.1(TCF20):c.5308CAG[6] (p.Gln1774dup)	TCF20	Microsatellite (inframe_insertion)	Developmental delay with variable intellectual impairment and behavioral abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 2167086	NM_001378418.1(TCF20):c.5042C>T (p.Ala1681Val)	TCF20 (A1681V)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities +1 more	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 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 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 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 2436999	NM_001378418.1(TCF20):c.3853C>T (p.Leu1285Phe)	TCF20 (L1285F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2437004	NM_001378418.1(TCF20):c.3604G>A (p.Gly1202Ser)	TCF20 (G1202S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2437017	NM_001378418.1(TCF20):c.3577C>T (p.Arg1193Trp)	TCF20 (R1193W)	Single nucleotide variant (missense variant)	not provided +1 more	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 2437001	NM_001378418.1(TCF20):c.3268T>C (p.Tyr1090His)	TCF20 (Y1090H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 2184432	NM_001378418.1(TCF20):c.2738G>A (p.Gly913Asp)	TCF20 (G913D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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	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 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 2437009	NM_001378418.1(TCF20):c.1844G>T (p.Gly615Val)	TCF20 (G615V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2437012	NM_001378418.1(TCF20):c.1769C>T (p.Pro590Leu)	TCF20 (P590L)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 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 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 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 1992045	NM_001378418.1(TCF20):c.761G>A (p.Ser254Asn)	TCF20 (S254N)	Single nucleotide variant (missense variant)	Developmental delay with variable intellectual impairment and behavioral abnormalities +1 more	GUncertain significance
Select item 1708266	NM_001378418.1(TCF20):c.719CCT[5] (p.Ser245_Ser246del)	TCF20	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1415946	NM_001378418.1(TCF20):c.442G>A (p.Gly148Ser)	TCF20 (G148S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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

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Items: 33