"GeneDx"[submitter] AND "TELO2"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 58602	GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3	MAPK8IP3, MAPK8IP3-AS1 +88 more	Copy number gain	See cases	GPathogenic
Select item 1231598	NM_016111.4(TELO2):c.19G>C (p.Glu7Gln)	TELO2 (E7Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1245043	NM_016111.4(TELO2):c.20A>G (p.Glu7Gly)	TELO2 (E7G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 392873	NM_016111.4(TELO2):c.194G>C (p.Cys65Ser)	TELO2 (C65S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1311961	NM_016111.4(TELO2):c.284C>T (p.Pro95Leu)	TELO2 (P95L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 419090	NM_016111.4(TELO2):c.392G>A (p.Gly131Asp)	TELO2 (G131D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1878758	NM_016111.4(TELO2):c.436_437inv (p.Gln146Trp)	TELO2 (Q146W)	Inversion (missense variant)	not provided	GUncertain significance
Select item 452017	NM_016111.4(TELO2):c.561del (p.Leu188fs)	TELO2 (L188fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1311870	NM_016111.4(TELO2):c.593C>T (p.Ala198Val)	TELO2 (A198V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 392872	NM_016111.4(TELO2):c.697G>A (p.Val233Met)	TELO2 (V233M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3364652	NM_016111.4(TELO2):c.785G>A (p.Arg262Gln)	TELO2 (R262Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081978	NM_016111.4(TELO2):c.830+5G>T	TELO2	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1065502	NM_016111.4(TELO2):c.967G>C (p.Ala323Pro)	TELO2 (A323P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 507720	NM_016111.4(TELO2):c.1002+5G>A	TELO2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2144769	NM_016111.4(TELO2):c.1330C>G (p.Gln444Glu)	TELO2 (Q444E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1471246	NM_016111.4(TELO2):c.1489C>T (p.Pro497Ser)	TELO2 (P497S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369833	NM_016111.4(TELO2):c.1490C>A (p.Pro497His)	TELO2 (P497H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446177	NM_016111.4(TELO2):c.1652del (p.Glu551fs)	TELO2 (E551fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 452016	NM_016111.4(TELO2):c.1770+3G>T	TELO2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 430950	NM_016111.4(TELO2):c.1772T>G (p.Val591Gly)	TELO2 (V591G)	Single nucleotide variant (missense variant)	TELO2-related intellectual disability-neurodevelopmental disorder +2 more	GConflicting classifications of pathogenicity
Select item 236229	NM_016111.4(TELO2):c.1826G>A (p.Arg609His)	TELO2 (R609H)	Single nucleotide variant (missense variant)	TELO2-related intellectual disability-neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 1207111	NM_016111.4(TELO2):c.1842+5G>A	TELO2	Single nucleotide variant (intron variant)	TELO2-related intellectual disability-neurodevelopmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 1311211	NM_016111.4(TELO2):c.1919C>T (p.Pro640Leu)	TELO2 (P640L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2149531	NM_016111.4(TELO2):c.1969G>A (p.Val657Met)	TELO2 (V657M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3253470	NM_016111.4(TELO2):c.2000A>G (p.Glu667Gly)	TELO2 (E667G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185494	NM_016111.4(TELO2):c.2021A>G (p.Gln674Arg)	TELO2 (Q674R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1309041	NM_016111.4(TELO2):c.2026C>T (p.Leu676Phe)	TELO2 (L676F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1314493	NM_016111.4(TELO2):c.2095TTC[2] (p.Phe701del)	TELO2 (F701del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1175880	NM_016111.4(TELO2):c.2275C>T (p.Arg759Cys)	TELO2 (R759C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072846	NM_016111.4(TELO2):c.2291+1G>C	TELO2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 236227	NM_016111.4(TELO2):c.2296G>A (p.Val766Met)	TELO2 (V766M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1311155	NM_016111.4(TELO2):c.2300G>A (p.Arg767His)	TELO2 (R767H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2187157	NM_016111.4(TELO2):c.2353C>T (p.Arg785Cys)	TELO2 (R785C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311212	NM_016111.4(TELO2):c.2396C>A (p.Ser799Tyr)	TELO2 (S799Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3359670	NM_016111.4(TELO2):c.808G>A (p.Gly270Arg)	TELO2 (G270R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 39