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

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 59292	GRCh38/hg38 16p12.1-11.2(chr16:28293803-29531653)x3	APOBR, ATP2A1 +78 more	Copy number gain	See cases	GUncertain significance
Select item 58735	GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1	ALDOA, APOBR +186 more	Copy number loss	See cases	GPathogenic
Select item 60372	GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1	LOC130058756, LOC130058757 +170 more	Copy number loss	See cases	GPathogenic
Select item 59294	GRCh38/hg38 16p11.2(chr16:28592408-29025786)x3	ATP2A1, ATP2A1-AS1 +43 more	Copy number gain	See cases	GUncertain significance
Select item 59295	GRCh38/hg38 16p11.2(chr16:28599237-29025786)x3	ATP2A1, ATP2A1-AS1 +41 more	Copy number gain	See cases	GUncertain significance
Select item 59642	GRCh38/hg38 16p11.2(chr16:28710478-29025786)x3	ATP2A1, ATP2A1-AS1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 145955	GRCh38/hg38 16p11.2(chr16:28813473-29032580)x3	ATP2A1, ATP2A1-AS1 +34 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 59296	GRCh38/hg38 16p11.2(chr16:28813473-28981076)x3	ATP2A1, ATP2A1-AS1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 318738	NM_003321.5(TUFM):c.*300T>G	TUFM	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 318742	NM_003321.5(TUFM):c.*24C>T	TUFM	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation defect type 4 +1 more	GBenign
Select item 215315	NM_003321.5(TUFM):c.1364G>A (p.Gly455Asp)	TUFM (G455D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 215314	NM_003321.5(TUFM):c.1348A>G (p.Lys450Glu)	TUFM (K450E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 215313	NM_003321.5(TUFM):c.1292A>G (p.Asn431Ser)	TUFM (N431S +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 4 +2 more	GConflicting classifications of pathogenicity
Select item 1193332	NM_003321.5(TUFM):c.1271G>A (p.Arg424His)	TUFM (R396H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 387146	NM_003321.5(TUFM):c.1242G>A (p.Arg414=)	TUFM	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 215312	NM_003321.5(TUFM):c.1196A>G (p.Glu399Gly)	TUFM (E399G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 318743	NM_003321.5(TUFM):c.1195-3T>C	TUFM	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1195329	NM_003321.5(TUFM):c.1195-26G>A	TUFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 59683	GRCh38/hg38 16p11.2(chr16:28843308-29025786)x3	ATP2A1, ATP2A1-AS1 +31 more	Copy number gain	See cases	GUncertain significance
Select item 667506	NM_003321.5(TUFM):c.1194+288T>C	TUFM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326117	NM_003321.5(TUFM):c.981C>G (p.Ala327=)	TUFM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 516938	NM_003321.5(TUFM):c.963C>T (p.Ala321=)	TUFM	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1223204	NM_003321.5(TUFM):c.922+54G>A	TUFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266794	NM_003321.5(TUFM):c.922+29C>G	TUFM	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 4 +1 more	GBenign
Select item 379547	NM_003321.5(TUFM):c.922+16C>T	TUFM	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 516840	NM_003321.5(TUFM):c.922+8A>G	TUFM	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 4 +1 more	GConflicting classifications of pathogenicity
Select item 507926	NM_003321.5(TUFM):c.909C>T (p.Arg303=)	TUFM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1209021	NM_003321.5(TUFM):c.873C>T (p.Asp291=)	TUFM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 215317	NM_003321.5(TUFM):c.851G>A (p.Arg284His)	TUFM (R284H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1303007	NM_003321.5(TUFM):c.820C>T (p.Arg274Cys)	TUFM (R274C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 515628	NM_003321.5(TUFM):c.817+19C>G	TUFM	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 390896	NM_003321.5(TUFM):c.817+16G>C	TUFM	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 318747	NM_003321.5(TUFM):c.817+13T>C	TUFM	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 318748	NM_003321.5(TUFM):c.760G>A (p.Ala254Thr)	TUFM (A254T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 318749	NM_003321.5(TUFM):c.759C>T (p.Pro253=)	TUFM	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 4 +1 more	GConflicting classifications of pathogenicity
Select item 1468787	NM_003321.5(TUFM):c.732T>G (p.Asp244Glu)	TUFM (D244E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1186669	NM_003321.5(TUFM):c.685-32G>T	TUFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 513733	NM_003321.5(TUFM):c.684+9G>A	TUFM	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 318750	NM_003321.5(TUFM):c.684+8C>T	TUFM	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 137860	NM_003321.5(TUFM):c.684+6C>T	TUFM	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 4 +2 more	GBenign/Likely benign
Select item 2461524	NM_003321.5(TUFM):c.674G>A (p.Cys225Tyr)	TUFM (C225Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3341012	NM_003321.5(TUFM):c.635A>G (p.Lys212Arg)	TUFM (K212R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 215311	NM_003321.5(TUFM):c.622G>A (p.Glu208Lys)	TUFM (E208K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 379527	NM_003321.5(TUFM):c.558T>C (p.Ala186=)	TUFM	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 4 +2 more	GConflicting classifications of pathogenicity
Select item 137859	NM_003321.5(TUFM):c.520-8A>T	TUFM	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 4 +2 more	GBenign/Likely benign
Select item 318752	NM_003321.5(TUFM):c.520-13C>G	TUFM	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1196427	NM_003321.5(TUFM):c.519+32G>A	TUFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 318753	NM_003321.5(TUFM):c.519+15G>A	TUFM	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 4 +1 more	GConflicting classifications of pathogenicity
Select item 318754	NM_003321.5(TUFM):c.427G>A (p.Gly143Ser)	TUFM (G143S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 668660	NM_003321.5(TUFM):c.415-6C>G	TUFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1712090	NM_003321.5(TUFM):c.374A>G (p.Tyr125Cys)	TUFM (Y125C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 427129	NM_003321.5(TUFM):c.320G>C (p.Arg107Pro)	TUFM (R107P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1165041	NM_003321.5(TUFM):c.248-18G>A	TUFM	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1457310	NM_003321.5(TUFM):c.216_226dup (p.Leu76fs)	TUFM (L76fs)	Duplication (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 137862	NM_003321.5(TUFM):c.198C>T (p.Ile66=)	TUFM	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 4 +2 more	GBenign
Select item 215316	NM_003321.5(TUFM):c.117G>C (p.Leu39Phe)	TUFM (L39F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 516839	NM_003321.5(TUFM):c.72C>T (p.Thr24=)	TUFM	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1441233	NM_003321.5(TUFM):c.64G>A (p.Gly22Ser)	TUFM (G22S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1203844	NM_003321.5(TUFM):c.53-11G>C	TUFM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 215318	NM_003321.5(TUFM):c.35C>G (p.Ala12Gly)	TUFM, LOC130058735 (A12G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 215310	NM_003321.5(TUFM):c.20C>T (p.Ala7Val)	TUFM, LOC130058735 (A7V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 425103	NM_003321.5(TUFM):c.6C>T (p.Thr2=)	LOC130058735, TUFM	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 385037	NM_003321.5(TUFM):c.-11G>A	LOC130058735, TUFM	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 511374	NM_003321.5(TUFM):c.-22C>A	LOC130058735, TUFM	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 137861	NM_003321.5(TUFM):c.-34C>T	LOC130058735, TUFM	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 318759	NM_003321.5(TUFM):c.-57TCT[2]	LOC130058735, TUFM	Microsatellite (5 prime UTR variant)	Combined oxidative phosphorylation deficiency +1 more	GConflicting classifications of pathogenicity
Select item 318760	NM_003321.5(TUFM):c.-55T>C	LOC130058735, TUFM	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 318763	NM_003321.4(TUFM):c.-132G>A	LOC130058735, TUFM	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 253631	GRCh37/hg19 16p11.2(chr16:28486693-29043960)x1	ATXN2L, NFATC2IP +15 more	Copy number loss	See cases	GPathogenic
Select item 253467	GRCh37/hg19 16p11.2(chr16:28826162-29043960)x1	ATP2A1, CD19 +7 more	Copy number loss	See cases	GPathogenic

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Items: 73