ClinVar for MedGen (Select 266247) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2583174	NM_013432.5(TONSL):c.2952_2953delinsT (p.Ala985fs)	TONSL (A985fs)	Indel (frameshift variant)	Sponastrime dysplasia	GLikely pathogenic
Select item 2500921	NM_013432.5(TONSL):c.1435del (p.Glu479fs)	TONSL (E479fs)	Deletion (frameshift variant)	Sponastrime dysplasia	GLikely pathogenic
Select item 1805128	NM_013432.5(TONSL):c.3809+36G>A	TONSL	Single nucleotide variant (intron variant)	Sponastrime dysplasia	GUncertain significance
Select item 1805067	NM_013432.5(TONSL):c.3549del (p.Ser1183fs)	TONSL (S1183fs)	Deletion (frameshift variant)	Sponastrime dysplasia	GPathogenic
Select item 1683467	NM_013432.5(TONSL):c.3967_3968dup (p.Leu1324fs)	TONSL (L1324fs)	Duplication (frameshift variant)	Sponastrime dysplasia	GLikely pathogenic
Select item 1683465	NM_013432.5(TONSL):c.994G>C (p.Glu332Gln)	TONSL (E332Q)	Single nucleotide variant (missense variant)	Sponastrime dysplasia	GUncertain significance
Select item 1683464	NM_013432.5(TONSL):c.2776-2A>G	MIR6893, TONSL +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Sponastrime dysplasia	GLikely pathogenic
Select item 1679871	NM_013432.5(TONSL):c.122-7C>G	TONSL	Single nucleotide variant (intron variant)	Sponastrime dysplasia	GUncertain significance
Select item 1435174	NM_013432.5(TONSL):c.2891C>T (p.Ala964Val)	TONSL (A964V)	Single nucleotide variant (missense variant)	Sponastrime dysplasia +1 more	GUncertain significance
Select item 1421877	NM_013432.5(TONSL):c.4047G>T (p.Arg1349Ser)	TONSL (R1349S)	Single nucleotide variant (missense variant)	Sponastrime dysplasia +1 more	GUncertain significance
Select item 1343381	NM_013432.5(TONSL):c.787C>T (p.Arg263Ter)	TONSL (R263*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1342246	NM_013432.5(TONSL):c.448+40G>A	TONSL	Single nucleotide variant (intron variant)	Sponastrime dysplasia	GBenign
Select item 1342245	NM_013432.5(TONSL):c.1290+35G>A	TONSL	Single nucleotide variant (intron variant)	Sponastrime dysplasia	GBenign
Select item 1342244	NM_013432.5(TONSL):c.1291-44T>C	TONSL	Single nucleotide variant (intron variant)	Sponastrime dysplasia	GBenign
Select item 1342242	NM_013432.5(TONSL):c.1653+40T>C	TONSL, TONSL-AS1	Single nucleotide variant (intron variant)	Sponastrime dysplasia	GBenign
Select item 1342241	NM_013432.5(TONSL):c.2852+24C>T	TONSL, TONSL-AS1	Single nucleotide variant (intron variant)	Sponastrime dysplasia	GBenign
Select item 1339226	NM_013432.5(TONSL):c.1290G>C (p.Gln430His)	TONSL (Q430H)	Single nucleotide variant (missense variant)	Sponastrime dysplasia	GUncertain significance
Select item 1332829	NM_013432.5(TONSL):c.1986GCT[1] (p.Leu664del)	TONSL, TONSL-AS1 (L664del)	Microsatellite (inframe_deletion)	Sponastrime dysplasia	GUncertain significance
Select item 1332828	NM_013432.5(TONSL):c.1471_1472del (p.Ser491fs)	TONSL (S491fs)	Microsatellite (frameshift variant)	Sponastrime dysplasia	GUncertain significance
Select item 1332827	NM_013432.5(TONSL):c.521G>A (p.Ser174Asn)	TONSL (S174N)	Single nucleotide variant (missense variant)	Sponastrime dysplasia	GUncertain significance
Select item 1330810	NM_013432.5(TONSL):c.1706C>T (p.Ala569Val)	TONSL, TONSL-AS1 (A569V)	Single nucleotide variant (missense variant)	Sponastrime dysplasia	GUncertain significance
Select item 1325216	NM_013432.5(TONSL):c.1531C>T (p.Gln511Ter)	TONSL, TONSL-AS1 (Q511*)	Single nucleotide variant (non-coding transcript variant +1 more)	Sponastrime dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 1177493	NM_013432.5(TONSL):c.2302C>T (p.Arg768Trp)	TONSL, TONSL-AS1 (R768W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1167024	NM_013432.5(TONSL):c.1263C>T (p.Ala421=)	TONSL	Single nucleotide variant (synonymous variant)	Sponastrime dysplasia +1 more	GBenign
Select item 1167023	NM_013432.5(TONSL):c.1368A>G (p.Leu456=)	TONSL	Single nucleotide variant (synonymous variant)	Sponastrime dysplasia +1 more	GBenign
Select item 1167022	NM_013432.5(TONSL):c.1477G>A (p.Gly493Ser)	TONSL (G493S)	Single nucleotide variant (missense variant)	Sponastrime dysplasia +1 more	GBenign
Select item 1167021	NM_013432.5(TONSL):c.2141C>T (p.Ala714Val)	TONSL, TONSL-AS1 (A714V)	Single nucleotide variant (missense variant)	Sponastrime dysplasia +1 more	GBenign
Select item 1167020	NM_013432.5(TONSL):c.2496C>T (p.Ala832=)	TONSL, TONSL-AS1	Single nucleotide variant (synonymous variant)	Sponastrime dysplasia +1 more	GBenign
Select item 1167011	NM_013432.5(TONSL):c.865+15G>C	TONSL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1166861	NM_013432.5(TONSL):c.578+18C>T	TONSL	Single nucleotide variant (intron variant)	Sponastrime dysplasia +1 more	GBenign
Select item 982176	NM_013432.5(TONSL):c.3796dup (p.Arg1266fs)	TONSL (R1266fs)	Duplication (frameshift variant)	Sponastrime dysplasia	GLikely pathogenic
Select item 982175	NM_013432.5(TONSL):c.122-5C>G	TONSL	Single nucleotide variant (intron variant)	Sponastrime dysplasia	GLikely pathogenic
Select item 982174	NM_013432.5(TONSL):c.1864dup (p.Ala622fs)	TONSL, TONSL-AS1 (A622fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 982173	NM_013432.5(TONSL):c.460C>T (p.Gln154Ter)	TONSL (Q154*)	Single nucleotide variant (nonsense)	Sponastrime dysplasia	GLikely pathogenic
Select item 982172	NM_013432.5(TONSL):c.3096dup (p.Gln1033fs)	TONSL (Q1033fs)	Duplication (frameshift variant)	Sponastrime dysplasia	GLikely pathogenic
Select item 638069	NM_013432.5(TONSL):c.1673G>A (p.Arg558Gln)	TONSL, TONSL-AS1 (R558Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 638068	NM_013432.5(TONSL):c.3559+287_3735+546del	TONSL	Deletion (splice acceptor variant +1 more)	Sponastrime dysplasia	GPathogenic
Select item 638067	NM_013432.5(TONSL):c.595G>A (p.Glu199Lys)	TONSL (E199K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 638066	NM_013432.5(TONSL):c.866-1G>C	TONSL	Single nucleotide variant (splice acceptor variant)	TONSL-related disorder	GUncertain significance
Select item 638065	NM_013432.5(TONSL):c.1480G>A (p.Glu494Lys)	TONSL (E494K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 638064	NM_013432.5(TONSL):c.2638_2647delinsGG (p.Arg880fs)	TONSL, TONSL-AS1 (R880fs)	Indel (frameshift variant)	Sponastrime dysplasia	GPathogenic/Likely pathogenic
Select item 638063	NM_013432.5(TONSL):c.1602_1612del (p.Ala536fs)	TONSL, TONSL-AS1 (A536fs)	Deletion (frameshift variant)	Sponastrime dysplasia	GPathogenic/Likely pathogenic
Select item 638062	NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys)	TONSL (E487K)	Single nucleotide variant (missense variant)	Sponastrime dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 638061	NM_013432.5(TONSL):c.3589T>C (p.Ser1197Pro)	TONSL (S1197P)	Single nucleotide variant (missense variant)	Sponastrime dysplasia	GPathogenic/Likely pathogenic
Select item 638060	NM_013432.5(TONSL):c.2407C>T (p.Gln803Ter)	TONSL, TONSL-AS1 (Q803*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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

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Links from MedGen

Items: 46