ClinVar for MedGen (Select 333983) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24421901.	NM_012470.4(TNPO3):c.890G>T (p.Arg297Leu) GRCh37: Chr7:128640604 GRCh38: Chr7:129000550	TNPO3	R249L, R297L, R324L	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (May 26, 2022)	criteria provided, single submitter
Select item 24371582.	NM_012470.4(TNPO3):c.1249A>G (p.Met417Val) GRCh37: Chr7:128633878 GRCh38: Chr7:128993824	TNPO3	M368V, M369V, M417V, M444V	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Apr 1, 2019)	criteria provided, single submitter
Select item 24371573.	NM_012470.4(TNPO3):c.481A>G (p.Ile161Val) GRCh37: Chr7:128655104 GRCh38: Chr7:129015050	TNPO3	I161V, I188V	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Jun 22, 2019)	criteria provided, single submitter
Select item 24371564.	NM_012470.4(TNPO3):c.2537C>G (p.Pro846Arg) GRCh37: Chr7:128610263 GRCh38: Chr7:128970209	TNPO3	P782R, P797R, P798R, P799R, P810R, P846R, P873R, P880R	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (May 16, 2019)	criteria provided, single submitter
Select item 24371555.	NM_012470.4(TNPO3):c.619A>G (p.Ser207Gly) GRCh37: Chr7:128645147 GRCh38: Chr7:129005093	TNPO3	S207G, S234G	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Apr 24, 2019)	criteria provided, single submitter
Select item 24371546.	NM_012470.4(TNPO3):c.1722G>C (p.Leu574Phe) GRCh37: Chr7:128624282 GRCh38: Chr7:128984228	TNPO3	L510F, L525F, L526F, L538F, L574F, L601F, L608F	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Jun 25, 2020)	criteria provided, single submitter
Select item 24371537.	NM_012470.4(TNPO3):c.1525G>C (p.Gly509Arg) GRCh37: Chr7:128626948 GRCh38: Chr7:128986894	TNPO3	G460R, G461R, G473R, G509R, G536R, G543R	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Apr 19, 2019)	criteria provided, single submitter
Select item 24371528.	NM_012470.4(TNPO3):c.1105A>G (p.Ile369Val) GRCh37: Chr7:128637496 GRCh38: Chr7:128997442	TNPO3	I321V, I369V, I396V	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Jan 17, 2019)	criteria provided, single submitter
Select item 24371519.	NM_012470.4(TNPO3):c.2145A>T (p.Glu715Asp) GRCh37: Chr7:128615906 GRCh38: Chr7:128975852	TNPO3	E651D, E666D, E667D, E668D, E679D, E715D, E742D, E749D	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 243715010.	NM_012470.4(TNPO3):c.761A>G (p.Tyr254Cys) GRCh37: Chr7:128641224 GRCh38: Chr7:129001170	TNPO3	Y206C, Y254C, Y281C	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 243714911.	NM_012470.4(TNPO3):c.201G>C (p.Met67Ile) GRCh37: Chr7:128658131 GRCh38: Chr7:129018077	TNPO3	M67I	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Dec 1, 2020)	criteria provided, single submitter
Select item 243714812.	NM_012470.4(TNPO3):c.1969C>T (p.Arg657Trp) GRCh37: Chr7:128619129 GRCh38: Chr7:128979075	TNPO3	R593W, R608W, R609W, R621W, R657W, R684W, R691W	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Feb 11, 2021)	criteria provided, single submitter
Select item 243714713.	NM_012470.4(TNPO3):c.533G>A (p.Ser178Asn) GRCh37: Chr7:128655052 GRCh38: Chr7:129014998	TNPO3	S178N, S205N	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Jan 6, 2021)	criteria provided, single submitter
Select item 243714614.	NM_012470.4(TNPO3):c.788T>G (p.Leu263Trp) GRCh37: Chr7:128641197 GRCh38: Chr7:129001143	TNPO3	L215W, L263W, L290W	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Dec 23, 2022)	criteria provided, single submitter
Select item 243714515.	NM_012470.4(TNPO3):c.643G>A (p.Asp215Asn) GRCh37: Chr7:128645123 GRCh38: Chr7:129005069	TNPO3	D215N, D242N	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 243714416.	NM_012470.4(TNPO3):c.668_672del (p.Lys223fs) GRCh37: Chr7:128645094-128645098 GRCh38: Chr7:129005040-129005044	TNPO3	K223fs, K250fs	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 243714317.	NM_012470.4(TNPO3):c.7G>A (p.Gly3Arg) GRCh37: Chr7:128694818 GRCh38: Chr7:129054764	TNPO3	G3R	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 243714218.	NM_012470.4(TNPO3):c.2080G>A (p.Val694Ile) GRCh37: Chr7:128615971 GRCh38: Chr7:128975917	TNPO3	V630I, V645I, V646I, V647I, V658I, V694I, V721I, V728I	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Feb 11, 2021)	criteria provided, single submitter
Select item 243714119.	NM_012470.4(TNPO3):c.1632T>G (p.Ile544Met) GRCh37: Chr7:128626841 GRCh38: Chr7:128986787	TNPO3	I495M, I496M, I508M, I544M, I571M, I578M	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Nov 3, 2019)	criteria provided, single submitter
Select item 243419120.	NM_012470.4(TNPO3):c.1423dup (p.Thr475fs) GRCh37: Chr7:128630089-128630090 GRCh38: Chr7:128990035-128990036	TNPO3	T426fs, T427fs, T439fs, T475fs, T502fs, T509fs	Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely pathogenic (Aug 24, 2022)	criteria provided, single submitter
Select item 241880321.	NM_012470.4(TNPO3):c.660T>C (p.Ala220=) GRCh37: Chr7:128645106 GRCh38: Chr7:129005052	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 241652222.	NM_012470.4(TNPO3):c.2598+17G>A GRCh37: Chr7:128610185 GRCh38: Chr7:128970131	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 220135523.	NM_012470.4(TNPO3):c.2413A>G (p.Thr805Ala) GRCh37: Chr7:128612497 GRCh38: Chr7:128972443	TNPO3	T741A, T757A, T769A, T805A, T832A, T756A, T758A, T839A	Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 220006224.	NM_012470.4(TNPO3):c.2540C>A (p.Pro847His) GRCh37: Chr7:128610260 GRCh38: Chr7:128970206	TNPO3	P800H, P783H, P798H, P811H, P847H, P874H, P799H, P881H	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 219602525.	NM_012470.4(TNPO3):c.2082A>G (p.Val694=) GRCh37: Chr7:128615969 GRCh38: Chr7:128975915	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 218834326.	NM_012470.4(TNPO3):c.696+12C>T GRCh37: Chr7:128645058 GRCh38: Chr7:129005004	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 218772427.	NM_012470.4(TNPO3):c.2284C>T (p.Arg762Cys) GRCh37: Chr7:128612626 GRCh38: Chr7:128972572	TNPO3	R698C, R714C, R715C, R726C, R713C, R789C, R796C, R762C	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 218630428.	NM_012470.4(TNPO3):c.2441A>G (p.Asp814Gly) GRCh37: Chr7:128610359 GRCh38: Chr7:128970305	TNPO3	D765G, D778G, D767G, D841G, D848G, D750G, D766G, D814G	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Mar 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218362629.	NM_012470.4(TNPO3):c.1416C>G (p.Thr472=) GRCh37: Chr7:128630097 GRCh38: Chr7:128990043	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 216918630.	NM_012470.4(TNPO3):c.1832T>G (p.Phe611Cys) GRCh37: Chr7:128622329 GRCh38: Chr7:128982275	TNPO3	F547C, F563C, F575C, F611C, F562C, F638C, F645C	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 216719731.	NM_012470.4(TNPO3):c.2673A>G (p.Thr891=) GRCh37: Chr7:128607372 GRCh38: Chr7:128967318	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 216670632.	NM_012470.4(TNPO3):c.1591C>T (p.Arg531Ter) GRCh37: Chr7:128626882 GRCh38: Chr7:128986828	TNPO3	R483, R495, R482, R558, R531, R565	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 216391433.	NM_012470.4(TNPO3):c.893T>C (p.Ile298Thr) GRCh37: Chr7:128640601 GRCh38: Chr7:129000547	TNPO3	I325T, I250T, I298T	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 216347334.	NM_012470.4(TNPO3):c.1574A>G (p.Asn525Ser) GRCh37: Chr7:128626899 GRCh38: Chr7:128986845	TNPO3	N477S, N552S, N525S, N559S, N476S, N489S	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 216286035.	NM_012470.4(TNPO3):c.831G>C (p.Glu277Asp) GRCh37: Chr7:128641154 GRCh38: Chr7:129001100	TNPO3	E229D, E277D, E304D	Autosomal dominant limb-girdle muscular dystrophy type 1F	Conflicting interpretations of pathogenicity (Jun 3, 2022)	criteria provided, conflicting interpretations
Select item 215606836.	NM_012470.4(TNPO3):c.552+11T>C GRCh37: Chr7:128655022 GRCh38: Chr7:129014968	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 215412537.	NM_012470.4(TNPO3):c.1865C>T (p.Thr622Ile) GRCh37: Chr7:128620080 GRCh38: Chr7:128980026	TNPO3	T558I, T573I, T622I, T586I, T649I, T656I, T574I	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 215312638.	NM_012470.4(TNPO3):c.2430+9A>C GRCh37: Chr7:128612471 GRCh38: Chr7:128972417	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 215093839.	NM_012470.4(TNPO3):c.1892C>T (p.Thr631Ile) GRCh37: Chr7:128620053 GRCh38: Chr7:128979999	TNPO3	T567I, T658I, T665I, T582I, T583I, T595I, T631I	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Mar 6, 2022)	criteria provided, single submitter
Select item 213661340.	NM_012470.4(TNPO3):c.2453G>A (p.Arg818Gln) GRCh37: Chr7:128610347 GRCh38: Chr7:128970293	TNPO3	R771Q, R852Q, R754Q, R782Q, R770Q, R845Q, R769Q, R818Q	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 213078441.	NM_012470.4(TNPO3):c.1901G>A (p.Cys634Tyr) GRCh37: Chr7:128620044 GRCh38: Chr7:128979990	TNPO3	C585Y, C586Y, C570Y, C661Y, C598Y, C668Y, C634Y	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 212926642.	NM_012470.4(TNPO3):c.120+13G>A GRCh37: Chr7:128694692 GRCh38: Chr7:129054638	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 212801343.	NM_012470.4(TNPO3):c.388G>T (p.Val130Leu) GRCh37: Chr7:128657044 GRCh38: Chr7:129016990	TNPO3	V130L	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 212670944.	NM_012470.4(TNPO3):c.1628_1629insT (p.Glu543fs) GRCh37: Chr7:128626844-128626845 GRCh38: Chr7:128986790-128986791	TNPO3	E494fs, E495fs, E507fs, E543fs, E570fs, E577fs	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 212325045.	NM_012470.4(TNPO3):c.1012-2A>G GRCh37: Chr7:128637591 GRCh38: Chr7:128997537	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 212279846.	NM_012470.4(TNPO3):c.1511G>C (p.Gly504Ala) GRCh37: Chr7:128626962 GRCh38: Chr7:128986908	TNPO3	G538A, G456A, G504A, G531A, G455A, G468A	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 212164847.	NM_012470.4(TNPO3):c.1562A>C (p.Lys521Thr) GRCh37: Chr7:128626911 GRCh38: Chr7:128986857	TNPO3	K548T, K555T, K472T, K485T, K521T, K473T	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 211614048.	NM_012470.4(TNPO3):c.1359-14C>T GRCh37: Chr7:128630168 GRCh38: Chr7:128990114	TNPO3	P483S	Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 211470149.	NM_012470.4(TNPO3):c.2489G>C (p.Gly830Ala) GRCh37: Chr7:128610311 GRCh38: Chr7:128970257	TNPO3	G781A, G782A, G783A, G857A, G766A, G830A, G864A, G794A	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 211297950.	NM_012470.4(TNPO3):c.934T>C (p.Cys312Arg) GRCh37: Chr7:128640560 GRCh38: Chr7:129000506	TNPO3	C339R, C312R, C264R	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 211015651.	NM_012470.4(TNPO3):c.2765T>C (p.Phe922Ser) GRCh37: Chr7:128597316 GRCh38: Chr7:128957262	TNPO3	F922S, F956S, F886S, F873S, F949S, F858S, F874S, F875S	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210976052.	NM_012470.4(TNPO3):c.2541del (p.Tyr848fs) GRCh37: Chr7:128610259 GRCh38: Chr7:128970205	TNPO3	Y801fs, Y848fs, Y875fs, Y784fs, Y800fs, Y882fs, Y812fs, Y799fs	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210969053.	NM_012470.4(TNPO3):c.2599-18C>A GRCh37: Chr7:128607464 GRCh38: Chr7:128967410	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 210295554.	NM_012470.4(TNPO3):c.1798C>T (p.Pro600Ser) GRCh37: Chr7:128622363 GRCh38: Chr7:128982309	TNPO3	P551S, P564S, P536S, P627S, P552S, P600S, P634S	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 210034555.	NM_012470.4(TNPO3):c.2190C>T (p.Ile730=) GRCh37: Chr7:128615005 GRCh38: Chr7:128974951	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 209852956.	NM_012470.4(TNPO3):c.2382T>C (p.Ser794=) GRCh37: Chr7:128612528 GRCh38: Chr7:128972474	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 209708957.	NM_012470.4(TNPO3):c.1012-4A>T GRCh37: Chr7:128637593 GRCh38: Chr7:128997539	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 209064258.	NM_012470.4(TNPO3):c.2325T>C (p.Pro775=) GRCh37: Chr7:128612585 GRCh38: Chr7:128972531	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 208028759.	NM_012470.4(TNPO3):c.547C>T (p.Leu183=) GRCh37: Chr7:128655038 GRCh38: Chr7:129014984	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (May 2, 2022)	criteria provided, single submitter
Select item 207947160.	NM_012470.4(TNPO3):c.369G>A (p.Lys123=) GRCh37: Chr7:128657063 GRCh38: Chr7:129017009	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 207361461.	NM_012470.4(TNPO3):c.307G>A (p.Val103Ile) GRCh37: Chr7:128658025 GRCh38: Chr7:129017971	TNPO3	V103I	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 207075462.	NM_012470.4(TNPO3):c.1783-12T>A GRCh37: Chr7:128622390 GRCh38: Chr7:128982336	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Benign (Jun 25, 2022)	criteria provided, single submitter
Select item 206928363.	NM_012470.4(TNPO3):c.737C>T (p.Ser246Leu) GRCh37: Chr7:128641248 GRCh38: Chr7:129001194	TNPO3	S198L, S273L, S246L	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 206537564.	NM_012470.4(TNPO3):c.2598+9G>A GRCh37: Chr7:128610193 GRCh38: Chr7:128970139	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 206301165.	NM_012470.4(TNPO3):c.1859+15_1859+16delinsAA GRCh37: Chr7:128622286-128622287 GRCh38: Chr7:128982232-128982233	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 206212266.	NM_012470.4(TNPO3):c.1159-15G>A GRCh37: Chr7:128633983 GRCh38: Chr7:128993929	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 205925267.	NM_012470.4(TNPO3):c.161G>A (p.Arg54Gln) GRCh37: Chr7:128658171 GRCh38: Chr7:129018117	TNPO3	R54Q	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 205836668.	NM_012470.4(TNPO3):c.1958G>T (p.Arg653Leu) GRCh37: Chr7:128619140 GRCh38: Chr7:128979086	TNPO3	R589L, R680L, R687L, R604L, R605L, R653L, R617L	Autosomal dominant limb-girdle muscular dystrophy type 1F, not provided	Uncertain significance (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205751169.	NM_012470.4(TNPO3):c.1920+16T>C GRCh37: Chr7:128620009 GRCh38: Chr7:128979955	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 205599470.	NM_012470.4(TNPO3):c.371G>T (p.Gly124Val) GRCh37: Chr7:128657061 GRCh38: Chr7:129017007	TNPO3	G124V	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 205111671.	NM_012470.4(TNPO3):c.155A>C (p.Gln52Pro) GRCh37: Chr7:128658177 GRCh38: Chr7:129018123	TNPO3	Q52P	Autosomal dominant limb-girdle muscular dystrophy type 1F, not provided	Uncertain significance (Jan 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 205030772.	NM_012470.4(TNPO3):c.2228A>G (p.Gln743Arg) GRCh37: Chr7:128614967 GRCh38: Chr7:128974913	TNPO3	Q707R, Q777R, Q679R, Q695R, Q694R, Q743R, Q696R, Q770R	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 204914973.	NM_012470.4(TNPO3):c.733G>T (p.Ala245Ser) GRCh37: Chr7:128641252 GRCh38: Chr7:129001198	TNPO3	A197S, A245S, A272S	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 204882174.	NM_012470.4(TNPO3):c.1011+3A>G GRCh37: Chr7:128640480 GRCh38: Chr7:129000426	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 204740675.	NM_012470.4(TNPO3):c.2011C>T (p.Arg671Cys) GRCh37: Chr7:128619087 GRCh38: Chr7:128979033	TNPO3	R622C, R623C, R635C, R698C, R607C, R671C, R705C	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 204678576.	NM_012470.4(TNPO3):c.2383G>T (p.Val795Phe) GRCh37: Chr7:128612527 GRCh38: Chr7:128972473	TNPO3	V746F, V748F, V731F, V795F, V747F, V759F, V822F, V829F	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Aug 25, 2022)	criteria provided, single submitter
Select item 204338477.	NM_012470.4(TNPO3):c.76G>T (p.Gly26Ter) GRCh37: Chr7:128694749 GRCh38: Chr7:129054695	TNPO3	G26*	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 204152078.	NM_012470.4(TNPO3):c.873-9C>T GRCh37: Chr7:128640630 GRCh38: Chr7:129000576	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Mar 22, 2022)	criteria provided, single submitter
Select item 203684379.	NM_012470.4(TNPO3):c.2514G>A (p.Leu838=) GRCh37: Chr7:128610286 GRCh38: Chr7:128970232	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 203512680.	NM_012470.4(TNPO3):c.1674T>C (p.Ala558=) GRCh37: Chr7:128626799 GRCh38: Chr7:128986745	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 203474081.	NM_012470.4(TNPO3):c.697-16C>T GRCh37: Chr7:128641304 GRCh38: Chr7:129001250	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 203218582.	NM_012470.4(TNPO3):c.1746T>C (p.Ser582=) GRCh37: Chr7:128624258 GRCh38: Chr7:128984204	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 203126083.	NM_012470.4(TNPO3):c.1011+4G>A GRCh37: Chr7:128640479 GRCh38: Chr7:129000425	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 202194484.	NM_012470.4(TNPO3):c.2121T>G (p.Leu707=) GRCh37: Chr7:128615930 GRCh38: Chr7:128975876	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 201863285.	NM_012470.4(TNPO3):c.321+4A>G GRCh37: Chr7:128658007 GRCh38: Chr7:129017953	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 201818786.	NM_012470.4(TNPO3):c.448T>C (p.Leu150=) GRCh37: Chr7:128655137 GRCh38: Chr7:129015083	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 201053187.	NM_012470.4(TNPO3):c.1691-13_1691-10del GRCh37: Chr7:128624323-128624326 GRCh38: Chr7:128984269-128984272	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 200489988.	NM_012470.4(TNPO3):c.30C>G (p.Leu10=) GRCh37: Chr7:128694795 GRCh38: Chr7:129054741	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 200084989.	NM_012470.4(TNPO3):c.185T>G (p.Phe62Cys) GRCh37: Chr7:128658147 GRCh38: Chr7:129018093	TNPO3	F62C	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 200068490.	NM_012470.4(TNPO3):c.635G>T (p.Gly212Val) GRCh37: Chr7:128645131 GRCh38: Chr7:129005077	TNPO3	G212V, G239V	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 199188991.	NM_012470.4(TNPO3):c.1938C>T (p.Ser646=) GRCh37: Chr7:128619160 GRCh38: Chr7:128979106	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 198838692.	NM_012470.4(TNPO3):c.9A>G (p.Gly3=) GRCh37: Chr7:128694816 GRCh38: Chr7:129054762	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Feb 27, 2022)	criteria provided, single submitter
Select item 198608293.	NM_012470.4(TNPO3):c.673C>T (p.Leu225=) GRCh37: Chr7:128645093 GRCh38: Chr7:129005039	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 197852394.	NM_012470.4(TNPO3):c.2285G>A (p.Arg762His) GRCh37: Chr7:128612625 GRCh38: Chr7:128972571	TNPO3	R714H, R726H, R789H, R698H, R715H, R762H, R713H, R796H	Autosomal dominant limb-girdle muscular dystrophy type 1F	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 197780995.	NM_012470.4(TNPO3):c.1499-21_1499-20del GRCh37: Chr7:128626994-128626995 GRCh38: Chr7:128986940-128986941	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 197719496.	NM_012470.4(TNPO3):c.2067G>A (p.Val689=) GRCh37: Chr7:128615984 GRCh38: Chr7:128975930	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 197577597.	NM_012470.4(TNPO3):c.2271C>G (p.Thr757=) GRCh37: Chr7:128614924 GRCh38: Chr7:128974870	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 197540998.	NM_012470.4(TNPO3):c.1165G>A (p.Val389Ile) GRCh37: Chr7:128633962 GRCh38: Chr7:128993908	TNPO3	V389I, V416I, V340I, V341I	Autosomal dominant limb-girdle muscular dystrophy type 1F, Inborn genetic diseases	Uncertain significance (Feb 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 197357399.	NM_012470.4(TNPO3):c.1059G>A (p.Leu353=) GRCh37: Chr7:128637542 GRCh38: Chr7:128997488	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 1972718100.	NM_012470.4(TNPO3):c.1266+13G>C GRCh37: Chr7:128633848 GRCh38: Chr7:128993794	TNPO3		Autosomal dominant limb-girdle muscular dystrophy type 1F	Likely benign (May 29, 2022)	criteria provided, single submitter

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