ClinVar for MedGen (Select 333983) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3019947	NM_012470.4(TNPO3):c.2706C>G (p.Val902=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 3017913	NM_012470.4(TNPO3):c.2751C>A (p.Asp917Glu)	TNPO3 (D881E +7 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 3004386	NM_012470.4(TNPO3):c.87C>T (p.Arg29=)	LOC129999289, TNPO3	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 3003826	NM_012470.4(TNPO3):c.541G>A (p.Val181Ile)	TNPO3 (V181I +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 3001472	NM_012470.4(TNPO3):c.1624C>T (p.Leu542=)	TNPO3	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2998118	NM_012470.4(TNPO3):c.1644C>T (p.Leu548=)	TNPO3	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2994815	NM_012470.4(TNPO3):c.927A>C (p.Lys309Asn)	TNPO3 (K261N +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2994513	NM_012470.4(TNPO3):c.1805A>T (p.Asn602Ile)	TNPO3 (N553I +6 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2992806	NM_012470.4(TNPO3):c.676G>A (p.Ala226Thr)	TNPO3 (A226T +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2992231	NM_012470.4(TNPO3):c.2711+16G>T	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2989573	NM_012470.4(TNPO3):c.872+11G>A	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2983763	NM_012470.4(TNPO3):c.2202G>A (p.Gln734=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2977860	NM_012470.4(TNPO3):c.321+10G>A	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2975985	NM_012470.4(TNPO3):c.177A>G (p.Ser59=)	TNPO3	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2975610	NM_012470.4(TNPO3):c.522C>A (p.Ala174=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2964137	NM_012470.4(TNPO3):c.2178+12A>G	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2955688	NM_012470.4(TNPO3):c.1263T>C (p.Ala421=)	TNPO3	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2919463	NM_012470.4(TNPO3):c.2711+17del	TNPO3	Deletion (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GBenign
Select item 2915269	NM_012470.4(TNPO3):c.2503A>G (p.Ser835Gly)	TNPO3 (S799G +7 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2913807	NM_012470.4(TNPO3):c.1201A>G (p.Met401Val)	TNPO3 (M353V +3 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2910692	NM_012470.4(TNPO3):c.655A>G (p.Met219Val)	TNPO3 (M219V +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2908596	NM_012470.4(TNPO3):c.697-10A>G	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2907844	NM_012470.4(TNPO3):c.1498+19C>G	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2904781	NM_012470.4(TNPO3):c.776T>C (p.Val259Ala)	TNPO3 (V211A +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2902191	NM_012470.4(TNPO3):c.1199G>A (p.Arg400His)	TNPO3 (R400H +3 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2898763	NM_012470.4(TNPO3):c.839A>G (p.Tyr280Cys)	TNPO3 (Y232C +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2895894	NM_012470.4(TNPO3):c.2178+9T>G	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2895466	NM_012470.4(TNPO3):c.592C>T (p.Leu198Phe)	TNPO3 (L198F +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2893587	NM_012470.4(TNPO3):c.1267-16A>G	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2891902	NM_012470.4(TNPO3):c.804A>C (p.Gln268His)	TNPO3 (Q268H +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2888375	NM_012470.4(TNPO3):c.1860-20G>A	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2885604	NM_012470.4(TNPO3):c.2273+18G>A	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2882691	NM_012470.4(TNPO3):c.1088G>A (p.Gly363Asp)	TNPO3 (G315D +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2869694	NM_012470.4(TNPO3):c.1499-5C>T	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2855427	NM_012470.4(TNPO3):c.2153G>A (p.Arg718Gln)	TNPO3 (R669Q +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2854707	NM_012470.4(TNPO3):c.2364C>T (p.His788=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2849391	NM_012470.4(TNPO3):c.1256_1257insA (p.Cys419Ter)	TNPO3 (C370* +3 more)	Insertion (nonsense +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2845411	NM_012470.4(TNPO3):c.45G>T (p.Val15=)	LOC129999289, TNPO3	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2839976	NM_012470.4(TNPO3):c.537A>G (p.Thr179=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2836789	NM_012470.4(TNPO3):c.53T>C (p.Leu18Pro)	LOC129999289, TNPO3 (L18P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2834783	NM_012470.4(TNPO3):c.1150C>T (p.Pro384Ser)	TNPO3 (P384S +2 more)	Single nucleotide variant (missense variant +2 more)	TNPO3-related condition +1 more	GUncertain significance
Select item 2832800	NM_012470.4(TNPO3):c.2179-8del	TNPO3	Deletion (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GBenign
Select item 2828513	NM_012470.4(TNPO3):c.681C>G (p.Leu227=)	TNPO3	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2824820	NM_012470.4(TNPO3):c.322-14T>C	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2821737	NM_012470.4(TNPO3):c.120+20A>G	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2820827	NM_012470.4(TNPO3):c.1718C>A (p.Pro573His)	TNPO3 (P525H +6 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2818801	NM_012470.4(TNPO3):c.2754del (p.Phe918fs)	TNPO3 (F869fs +7 more)	Deletion (frameshift variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2817374	NM_012470.4(TNPO3):c.1266+20_1266+30del	TNPO3	Deletion (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2816611	NM_012470.4(TNPO3):c.1306G>T (p.Val436Leu)	TNPO3 (V436L +4 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2815724	NM_012470.4(TNPO3):c.2179-15A>G	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2815422	NM_012470.4(TNPO3):c.632T>G (p.Leu211Trp)	TNPO3 (L211W +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2810723	NM_012470.4(TNPO3):c.60C>T (p.His20=)	LOC129999289, TNPO3	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2809325	NM_012470.4(TNPO3):c.1782+11T>C	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2808456	NM_012470.4(TNPO3):c.1069A>G (p.Asn357Asp)	TNPO3 (N309D +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2803284	NM_012470.4(TNPO3):c.1461G>A (p.Glu487=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2795011	NM_012470.4(TNPO3):c.1330A>G (p.Met444Val)	TNPO3 (M408V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2791515	NM_012470.4(TNPO3):c.812A>G (p.Gln271Arg)	TNPO3 (Q298R +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2781639	NM_012470.4(TNPO3):c.2653G>T (p.Val885Leu)	TNPO3 (V821L +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2779314	NM_012470.4(TNPO3):c.1611C>G (p.His537Gln)	TNPO3 (H488Q +5 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2779313	NM_012470.4(TNPO3):c.1859+19G>C	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2772199	NM_012470.4(TNPO3):c.697-5C>T	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2769482	NM_012470.4(TNPO3):c.1358+16G>A	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2768752	NM_012470.4(TNPO3):c.1159-7A>G	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2754415	NM_012470.4(TNPO3):c.1833C>G (p.Phe611Leu)	TNPO3 (F547L +6 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2751407	NM_012470.4(TNPO3):c.1265A>G (p.Gln422Arg)	TNPO3 (Q374R +3 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2747275	NM_012470.4(TNPO3):c.1859+11A>G	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2741606	NM_012470.4(TNPO3):c.465T>C (p.His155=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2738766	NM_012470.4(TNPO3):c.523_524delinsGC (p.Phe175Ala)	TNPO3 (F175A +1 more)	Indel (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2738132	NM_012470.4(TNPO3):c.1298C>T (p.Pro433Leu)	TNPO3 (P397L +4 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2733841	NM_012470.4(TNPO3):c.2359G>A (p.Asp787Asn)	TNPO3 (D740N +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2733389	NM_012470.4(TNPO3):c.1358+12A>G	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2729035	NM_012470.4(TNPO3):c.1112G>A (p.Arg371Lys)	TNPO3 (R371K +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2728931	NM_012470.4(TNPO3):c.2599-15del	TNPO3	Deletion (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GBenign
Select item 2726185	NM_012470.4(TNPO3):c.2430+16A>G	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2723634	NM_012470.4(TNPO3):c.1200C>T (p.Arg400=)	TNPO3	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2721391	NM_012470.4(TNPO3):c.1498+19C>T	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2715488	NM_012470.4(TNPO3):c.1047G>C (p.Leu349=)	TNPO3	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2710360	NM_012470.4(TNPO3):c.1495C>T (p.Leu499Phe)	TNPO3 (L450F +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2706887	NM_012470.4(TNPO3):c.1783-8C>T	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2705435	NM_012470.4(TNPO3):c.2046G>T (p.Gln682His)	TNPO3 (Q634H +6 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2702283	NM_012470.4(TNPO3):c.2177A>T (p.Gln726Leu)	TNPO3 (Q677L +7 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2699080	NM_012470.4(TNPO3):c.1921-7G>C	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2698753	NM_012470.4(TNPO3):c.2280T>G (p.Ile760Met)	TNPO3 (I711M +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2690247	NM_012470.4(TNPO3):c.1735G>A (p.Glu579Lys)	TNPO3 (E515K +6 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2690246	NM_012470.4(TNPO3):c.472del (p.Ser158fs)	TNPO3 (S158fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2627756	NM_012470.4(TNPO3):c.2012G>A (p.Arg671His)	TNPO3 (R607H +6 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2585348	NM_012470.4(TNPO3):c.2430+1G>A	TNPO3	Single nucleotide variant (splice donor variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely pathogenic
Select item 2585311	NM_012470.4(TNPO3):c.2142A>T (p.Glu714Asp)	TNPO3 (E650D +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2442190	NM_012470.4(TNPO3):c.890G>T (p.Arg297Leu)	TNPO3 (R249L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2437158	NM_012470.4(TNPO3):c.1249A>G (p.Met417Val)	TNPO3 (M368V +3 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GUncertain significance
Select item 2437157	NM_012470.4(TNPO3):c.481A>G (p.Ile161Val)	TNPO3 (I161V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2437156	NM_012470.4(TNPO3):c.2537C>G (p.Pro846Arg)	TNPO3 (P782R +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2437155	NM_012470.4(TNPO3):c.619A>G (p.Ser207Gly)	TNPO3 (S207G +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2437154	NM_012470.4(TNPO3):c.1722G>C (p.Leu574Phe)	TNPO3 (L510F +6 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2437153	NM_012470.4(TNPO3):c.1525G>C (p.Gly509Arg)	TNPO3 (G460R +5 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2437152	NM_012470.4(TNPO3):c.1105A>G (p.Ile369Val)	TNPO3 (I321V +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GConflicting classifications of pathogenicity
Select item 2437151	NM_012470.4(TNPO3):c.2145A>T (p.Glu715Asp)	TNPO3 (E651D +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2437150	NM_012470.4(TNPO3):c.761A>G (p.Tyr254Cys)	TNPO3 (Y206C +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GUncertain significance
Select item 2437149	NM_012470.4(TNPO3):c.201G>C (p.Met67Ile)	TNPO3 (M67I)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2437148	NM_012470.4(TNPO3):c.1969C>T (p.Arg657Trp)	TNPO3 (R593W +6 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance

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