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

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 1237929	NM_007375.4(TARDBP):c.-12-263_-12-262del	TARDBP	Microsatellite (intron variant)	not provided	GBenign
Select item 291734	NM_007375.4(TARDBP):c.198T>C (p.Ala66=)	TARDBP	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 1198715	NM_007375.4(TARDBP):c.238+86A>G	TARDBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293157	NM_007375.4(TARDBP):c.238+228A>G	TARDBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203959	NM_007375.4(TARDBP):c.239-116G>T	TARDBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 21481	NM_007375.4(TARDBP):c.269C>T (p.Ala90Val)	TARDBP	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1282825	NM_007375.4(TARDBP):c.402+110C>T	TARDBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201009	NM_007375.4(TARDBP):c.402+191C>T	TARDBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200318	NM_007375.4(TARDBP):c.402+213dup	TARDBP	Duplication (intron variant)	not provided	GLikely benign
Select item 1238512	NM_007375.4(TARDBP):c.402+213del	TARDBP	Deletion (intron variant)	not provided	GBenign
Select item 1293632	NM_007375.4(TARDBP):c.403-65A>G	TARDBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293144	NM_007375.4(TARDBP):c.543+147A>G	TARDBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193656	NM_007375.4(TARDBP):c.543+265A>G	TARDBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207766	NM_007375.4(TARDBP):c.543+290A>G	TARDBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223420	NM_007375.4(TARDBP):c.544-184C>T	TARDBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190206	NM_007375.4(TARDBP):c.544-156A>G	TARDBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 291738	NM_007375.4(TARDBP):c.675A>G (p.Pro225=)	TARDBP	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 522225	NM_007375.4(TARDBP):c.714+69dup	TARDBP	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1198684	NM_007375.4(TARDBP):c.714+79C>T	TARDBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244184	NM_007375.4(TARDBP):c.714+166dup	TARDBP	Duplication (intron variant)	not provided	GBenign
Select item 1283048	NM_007375.4(TARDBP):c.714+166del	TARDBP	Deletion (intron variant)	not provided	GBenign
Select item 1204444	NM_007375.4(TARDBP):c.714+277T>C	TARDBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228980	NM_007375.4(TARDBP):c.715-301G>T	TARDBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200754	NM_007375.4(TARDBP):c.715-243C>T	TARDBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221094	NM_007375.4(TARDBP):c.715-126del	TARDBP	Deletion (intron variant)	not provided	GBenign
Select item 3365186	NM_007375.4(TARDBP):c.808_811del (p.Leu270fs)	TARDBP (L270fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 21483	NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser)	TARDBP	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +3 more	GPathogenic/Likely pathogenic
Select item 580997	NM_007375.4(TARDBP):c.925G>A (p.Gly309Ser)	TARDBP (G309S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2574883	NM_007375.4(TARDBP):c.1072A>T (p.Asn358Tyr)	TARDBP (N358Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 21474	NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr)	TARDBP	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +2 more	GPathogenic/Likely pathogenic
Select item 21476	NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)	TARDBP (I383V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +3 more	GPathogenic/Likely pathogenic
Select item 21477	NM_007375.4(TARDBP):c.1168A>G (p.Asn390Asp)	TARDBP (N390D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1300489	NM_007375.4(TARDBP):c.1169A>G (p.Asn390Ser)	TARDBP (N390S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 291743	NM_007375.4(TARDBP):c.*208G>A	TARDBP	Single nucleotide variant (3 prime UTR variant)	Frontotemporal dementia +3 more	GBenign/Likely benign
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 253358	GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3	AGTRAP, DISP3 +56 more	Copy number gain	See cases	GLikely pathogenic

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Items: 41