"GeneDx"[submitter] AND "TSEN34"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 1236557	NC_000019.10:g.54190237C>T	TSEN34	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 330122	NM_024075.5(TSEN34):c.-5+15G>A	TSEN34	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1250386	NM_024075.5(TSEN34):c.-5+33G>C	TSEN34	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262753	NM_024075.5(TSEN34):c.-5+249=	TSEN34	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190073	NM_024298.5(MBOAT7):c.-1587C>G	MBOAT7, TSEN34	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 57 +1 more	GLikely benign
Select item 1264043	NM_024075.5(TSEN34):c.-4-239=	TSEN34	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246046	NM_024075.5(TSEN34):c.-4-197C>G	TSEN34	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194740	NM_024075.5(TSEN34):c.-4-170G>C	TSEN34	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217402	NM_024075.5(TSEN34):c.-4-158G>T	TSEN34	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216351	NM_001077446.3(TSEN34):c.-139C>T	TSEN34	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679020	NM_024075.5(TSEN34):c.-4-66G>A	TSEN34	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295595	NM_001077446.4(TSEN34):c.-53=	TSEN34	Single nucleotide variant (no sequence alteration +1 more)	not provided	GBenign
Select item 389849	NM_001077446.4(TSEN34):c.-9C>T	TSEN34	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 284231	NM_001077446.4(TSEN34):c.-8G>A	TSEN34	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 160120	NM_001077446.4(TSEN34):c.39G>A (p.Val13=)	TSEN34	Single nucleotide variant (synonymous variant)	Pontoneocerebellar hypoplasia +2 more	GBenign/Likely benign
Select item 426378	NM_001077446.4(TSEN34):c.94A>C (p.Thr32Pro)	TSEN34 (T32P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 452390	NM_001077446.4(TSEN34):c.95C>T (p.Thr32Met)	TSEN34 (T32M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 330126	NM_001077446.4(TSEN34):c.230G>C (p.Arg77Pro)	TSEN34 (R77P)	Single nucleotide variant (missense variant)	Pontoneocerebellar hypoplasia +1 more	GConflicting classifications of pathogenicity
Select item 330127	NM_001077446.4(TSEN34):c.262C>T (p.Arg88Cys)	TSEN34 (R88C)	Single nucleotide variant (missense variant)	Pontoneocerebellar hypoplasia +1 more	GUncertain significance
Select item 893804	NM_001077446.4(TSEN34):c.274G>C (p.Glu92Gln)	TSEN34 (E92Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 894713	NM_001077446.4(TSEN34):c.314G>A (p.Arg105Gln)	TSEN34 (R105Q)	Single nucleotide variant (missense variant)	Pontoneocerebellar hypoplasia +1 more	GBenign/Likely benign
Select item 160119	NM_001077446.4(TSEN34):c.334C>G (p.Leu112Val)	TSEN34 (L112V)	Single nucleotide variant (missense variant)	Pontoneocerebellar hypoplasia +2 more	GBenign
Select item 1290521	NM_001077446.4(TSEN34):c.339G>A (p.Leu113=)	TSEN34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1328604	NM_001077446.4(TSEN34):c.356G>A (p.Gly119Asp)	TSEN34 (G119D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 212447	NM_001077446.4(TSEN34):c.392C>T (p.Ser131Leu)	TSEN34 (S131L)	Single nucleotide variant (missense variant)	Pontoneocerebellar hypoplasia +3 more	GUncertain significance
Select item 196514	NM_001077446.4(TSEN34):c.394G>A (p.Gly132Arg)	TSEN34 (G132R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1315367	NM_001077446.4(TSEN34):c.424A>G (p.Ser142Gly)	TSEN34 (S142G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1313810	NM_001077446.4(TSEN34):c.461A>C (p.Gln154Pro)	TSEN34 (Q154P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 681842	NM_001077446.4(TSEN34):c.488-16C>A	TSEN34	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 290843	NM_001077446.4(TSEN34):c.542C>A (p.Ser181Tyr)	TSEN34 (S181Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 515672	NM_001077446.4(TSEN34):c.675A>G (p.Arg225=)	TSEN34	Single nucleotide variant (synonymous variant)	Pontoneocerebellar hypoplasia +1 more	GConflicting classifications of pathogenicity
Select item 137754	NM_001077446.4(TSEN34):c.688C>A (p.Arg230=)	TSEN34	Single nucleotide variant (synonymous variant)	Pontoneocerebellar hypoplasia +2 more	GBenign
Select item 390239	NM_001077446.4(TSEN34):c.699C>T (p.Phe233=)	TSEN34	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1216672	NM_001077446.4(TSEN34):c.723A>T (p.Gly241=)	TSEN34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1239076	NM_001077446.4(TSEN34):c.745+83dup	TSEN34	Duplication (intron variant)	not provided	GBenign
Select item 1216892	NM_001077446.4(TSEN34):c.745+83del	TSEN34	Deletion (intron variant)	not provided	GLikely benign
Select item 1210831	NM_001077446.4(TSEN34):c.745+120G>C	TSEN34	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239217	NM_001077446.4(TSEN34):c.745+265=	TSEN34	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265417	NM_001077446.4(TSEN34):c.746-183C>G	TSEN34	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288578	NM_001077446.4(TSEN34):c.746-163_746-155dup	TSEN34	Duplication (intron variant)	not provided	GBenign
Select item 1253594	NM_001077446.4(TSEN34):c.746-161_746-155dup	TSEN34	Duplication (intron variant)	not provided	GBenign
Select item 1244910	NM_001077446.4(TSEN34):c.746-162_746-155dup	TSEN34	Duplication (intron variant)	not provided	GBenign
Select item 1188317	NM_001077446.4(TSEN34):c.746-164_746-155dup	TSEN34	Duplication (intron variant)	not provided	GLikely benign
Select item 1230944	NM_001077446.4(TSEN34):c.746-169=	TSEN34	Deletion (intron variant)	not provided	GBenign
Select item 1179964	NM_001077446.4(TSEN34):c.746-155del	TSEN34	Deletion (intron variant)	not provided	GLikely benign
Select item 382027	NM_001077446.4(TSEN34):c.786C>T (p.Cys262=)	TSEN34	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 160122	NM_001077446.4(TSEN34):c.795= (p.Pro265=)	TSEN34	Single nucleotide variant (no sequence alteration)	Pontoneocerebellar hypoplasia +2 more	GBenign
Select item 429434	NM_001077446.4(TSEN34):c.841G>A (p.Gly281Arg)	TSEN34 (G281R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429435	NM_001077446.4(TSEN34):c.875C>T (p.Ser292Phe)	TSEN34 (S292F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 509762	NM_001077446.4(TSEN34):c.909C>T (p.Ser303=)	TSEN34	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1200666	NM_001077446.4(TSEN34):c.927G>T (p.Leu309=)	TSEN34	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 261679	NM_001077446.4(TSEN34):c.*29G>A	TSEN34	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 330133	NM_001077446.4(TSEN34):c.*109A>G	TSEN34	Single nucleotide variant (3 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia +1 more	GBenign/Likely benign
Select item 892734	NM_001077446.4(TSEN34):c.*175T>C	TSEN34	Single nucleotide variant (3 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia +1 more	GBenign/Likely benign
Select item 330134	NM_001077446.4(TSEN34):c.*245A>C	TSEN34	Single nucleotide variant (3 prime UTR variant +1 more)	Pontoneocerebellar hypoplasia +1 more	GBenign

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Items: 58