"PreventionGenetics, part of Exact Sciences"[submitter] AND "TONSL"[ge - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1568521	NM_013432.5(TONSL):c.3914C>T (p.Pro1305Leu)	TONSL (P1305L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1168117	NM_013432.5(TONSL):c.3870C>T (p.Ser1290=)	TONSL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1164724	NM_013432.5(TONSL):c.3827C>T (p.Pro1276Leu)	TONSL (P1276L)	Single nucleotide variant (missense variant)	TONSL-related disorder +1 more	GBenign
Select item 1598212	NM_013432.5(TONSL):c.3809+9C>G	TONSL	Single nucleotide variant (intron variant)	TONSL-related disorder +1 more	GLikely benign
Select item 1169284	NM_013432.5(TONSL):c.3642C>T (p.Pro1214=)	TONSL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1114123	NM_013432.5(TONSL):c.3563C>T (p.Ala1188Val)	TONSL (A1188V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1618416	NM_013432.5(TONSL):c.3551C>T (p.Ala1184Val)	TONSL (A1184V)	Single nucleotide variant (missense variant)	TONSL-related disorder +1 more	GBenign
Select item 1168131	NM_013432.5(TONSL):c.3520T>C (p.Phe1174Leu)	TONSL (F1174L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1598893	NM_013432.5(TONSL):c.3453C>T (p.Ser1151=)	TONSL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1164478	NM_013432.5(TONSL):c.3111C>T (p.Ala1037=)	TONSL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 782522	NM_013432.5(TONSL):c.3042G>A (p.Pro1014=)	TONSL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2633973	NM_013432.5(TONSL):c.3007-2A>C	TONSL	Single nucleotide variant (splice acceptor variant)	TONSL-related disorder	GLikely pathogenic
Select item 638059	NM_013432.5(TONSL):c.2800C>T (p.Arg934Trp)	TONSL, TONSL-AS1 (R934W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1599459	NM_013432.5(TONSL):c.2781G>A (p.Pro927=)	TONSL, TONSL-AS1	Single nucleotide variant (synonymous variant)	TONSL-related disorder +1 more	GBenign/Likely benign
Select item 1557300	NM_013432.5(TONSL):c.2677G>A (p.Ala893Thr)	TONSL, TONSL-AS1 (A893T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1652159	NM_013432.5(TONSL):c.2624G>C (p.Arg875Pro)	TONSL, TONSL-AS1 (R875P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1429349	NM_013432.5(TONSL):c.2623C>T (p.Arg875Ter)	TONSL, TONSL-AS1 (R875*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2056653	NM_013432.5(TONSL):c.2531G>A (p.Arg844His)	TONSL, TONSL-AS1 (R844H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 732275	NM_013432.5(TONSL):c.2363G>A (p.Ser788Asn)	TONSL, TONSL-AS1 (S788N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1165843	NM_013432.5(TONSL):c.2269C>G (p.Gln757Glu)	TONSL-AS1, TONSL (Q757E)	Single nucleotide variant (missense variant)	TONSL-related disorder +1 more	GBenign
Select item 1603776	NM_013432.5(TONSL):c.2088C>T (p.Ser696=)	TONSL, TONSL-AS1	Single nucleotide variant (synonymous variant)	TONSL-related disorder +1 more	GLikely benign
Select item 1134055	NM_013432.5(TONSL):c.2076T>C (p.Ser692=)	TONSL-AS1, TONSL	Single nucleotide variant (synonymous variant)	TONSL-related disorder +1 more	GLikely benign
Select item 1546839	NM_013432.5(TONSL):c.1869C>T (p.Ser623=)	TONSL-AS1, TONSL	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1603181	NM_013432.5(TONSL):c.1653+9C>T	TONSL, TONSL-AS1	Single nucleotide variant (intron variant)	TONSL-related disorder +1 more	GLikely benign
Select item 716094	NM_013432.5(TONSL):c.1462G>A (p.Val488Met)	TONSL (V488M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1625364	NM_013432.5(TONSL):c.1441G>A (p.Glu481Lys)	TONSL (E481K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1663064	NM_013432.5(TONSL):c.1191A>G (p.Ala397=)	TONSL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1128480	NM_013432.5(TONSL):c.1164+7C>T	TONSL	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1060889	NM_013432.5(TONSL):c.1156G>A (p.Val386Met)	TONSL (V386M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1390079	NM_013432.5(TONSL):c.1145G>A (p.Arg382His)	TONSL (R382H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1167844	NM_013432.5(TONSL):c.885G>A (p.Leu295=)	TONSL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1170823	NM_013432.5(TONSL):c.726C>T (p.Ser242=)	TONSL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1020525	NM_013432.5(TONSL):c.712C>T (p.Arg238Trp)	TONSL (R238W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1649887	NM_013432.5(TONSL):c.710A>G (p.Lys237Arg)	TONSL (K237R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2632517	NM_013432.5(TONSL):c.659dup (p.Ala221fs)	TONSL (A221fs)	Duplication (frameshift variant)	TONSL-related disorder	GLikely pathogenic
Select item 1167614	NM_013432.5(TONSL):c.648C>T (p.Gly216=)	TONSL	Single nucleotide variant (synonymous variant)	TONSL-related disorder +1 more	GBenign
Select item 1167025	NM_013432.5(TONSL):c.546C>T (p.Asn182=)	TONSL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2115747	NM_013432.5(TONSL):c.529C>T (p.Gln177Ter)	TONSL (Q177*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3029806	NM_013432.5(TONSL):c.26-3C>T	LOC130001399, TONSL	Single nucleotide variant (intron variant)	TONSL-related disorder	GLikely benign

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Items: 39