23534[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic
Select item 153888	GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3	IMPDH1, AHCYL2 +106 more	Copy number gain	See cases	GLikely benign
Select item 57379	GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3	AHCYL2, ATP6V1F +233 more	Copy number gain	See cases	GPathogenic
Select item 1308080	NM_012470.4(TNPO3):c.2765_*2del (p.Phe922fs)	TNPO3 (F858fs +7 more)	Deletion (frameshift variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GUncertain significance
Select item 135660	NM_012470.4(TNPO3):c.2771del (p.Ter924CysextTer?)	TNPO3	Deletion (frameshift variant +3 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GPathogenic
Select item 523000	NM_012470.4(TNPO3):c.2768G>A (p.Arg923Gln)	TNPO3 (R923Q +7 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GUncertain significance
Select item 591000	NM_012470.4(TNPO3):c.2767del (p.Arg923fs)	TNPO3 (R859fs +7 more)	Deletion (frameshift variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely pathogenic
Select item 2110156	NM_012470.4(TNPO3):c.2765T>C (p.Phe922Ser)	TNPO3 (F922S +7 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 1335692	NM_012470.4(TNPO3):c.2760del (p.Arg920fs)	TNPO3 (R856fs +7 more)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 3180553	NM_012470.4(TNPO3):c.2756C>T (p.Thr919Ile)	TNPO3 (T855I +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 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 282446	NM_012470.4(TNPO3):c.2741C>T (p.Ala914Val)	TNPO3 (A914V +7 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 595737	NM_012470.4(TNPO3):c.2718G>A (p.Glu906=)	TNPO3	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 670796	NM_012470.4(TNPO3):c.2712-218A>C	TNPO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187450	NM_012470.4(TNPO3):c.2712-267A>G	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201390	NM_012470.4(TNPO3):c.2711+287G>A	TNPO3	Single nucleotide variant (intron variant)	not provided	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 1570594	NM_012470.4(TNPO3):c.2711+17G>C	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
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 1909651	NM_012470.4(TNPO3):c.2711+11C>A	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 595992	NM_012470.4(TNPO3):c.2708C>G (p.Thr903Ser)	TNPO3 (T903S +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 1437825	NM_012470.4(TNPO3):c.2677A>C (p.Lys893Gln)	TNPO3 (K857Q +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 423214	NM_012470.4(TNPO3):c.2676C>G (p.His892Gln)	TNPO3 (H892Q +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1409021	NM_012470.4(TNPO3):c.2674C>T (p.His892Tyr)	TNPO3 (H843Y +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 836846	NM_012470.4(TNPO3):c.2674C>A (p.His892Asn)	TNPO3 (H892N +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2167197	NM_012470.4(TNPO3):c.2673A>G (p.Thr891=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 592923	NM_012470.4(TNPO3):c.2667A>G (p.Thr889=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1008848	NM_012470.4(TNPO3):c.2666C>G (p.Thr889Arg)	TNPO3 (T825R +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 501775	NM_012470.4(TNPO3):c.2662G>A (p.Val888Ile)	TNPO3 (V888I +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +2 more	GUncertain significance
Select item 260265	NM_012470.4(TNPO3):c.2661C>T (p.Ala887=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +2 more	GBenign
Select item 283476	NM_012470.4(TNPO3):c.2655G>A (p.Val885=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
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 593072	NM_012470.4(TNPO3):c.2653G>A (p.Val885Met)	TNPO3 (V885M +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GUncertain significance
Select item 282630	NM_012470.4(TNPO3):c.2652C>T (p.Thr884=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 1486690	NM_012470.4(TNPO3):c.2633G>T (p.Gly878Val)	TNPO3 (G831V +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 283447	NM_012470.4(TNPO3):c.2625C>T (p.Ser875=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 289593	NM_012470.4(TNPO3):c.2611T>C (p.Trp871Arg)	TNPO3 (W871R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1503556	NM_012470.4(TNPO3):c.2609G>A (p.Arg870Gln)	TNPO3 (R904Q +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 1314909	NM_012470.4(TNPO3):c.2603T>C (p.Phe868Ser)	TNPO3 (F804S +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1424713	NM_012470.4(TNPO3):c.2599-3_2599-2del	TNPO3	Deletion (splice acceptor variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 286140	NM_012470.4(TNPO3):c.2599-6A>G	TNPO3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2109690	NM_012470.4(TNPO3):c.2599-18C>A	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 1203612	NM_012470.4(TNPO3):c.2599-78G>A	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209169	NM_012470.4(TNPO3):c.2599-268C>T	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194340	NM_012470.4(TNPO3):c.2598+245A>G	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1620377	NM_012470.4(TNPO3):c.2598+20G>A	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2416522	NM_012470.4(TNPO3):c.2598+17G>A	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 1159595	NM_012470.4(TNPO3):c.2598+10T>G	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2065375	NM_012470.4(TNPO3):c.2598+9G>A	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 939345	NM_012470.4(TNPO3):c.2598G>A (p.Pro866=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 1382474	NM_012470.4(TNPO3):c.2597C>T (p.Pro866Leu)	TNPO3 (P802L +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2276217	NM_012470.4(TNPO3):c.2594G>C (p.Arg865Thr)	TNPO3 (R816T +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 665549	NM_012470.4(TNPO3):c.2590G>A (p.Asp864Asn)	TNPO3 (D800N +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2631271	NM_012470.4(TNPO3):c.2583G>A (p.Met861Ile)	TNPO3 (M797I +7 more)	Single nucleotide variant (missense variant +1 more)	TNPO3-related disorder	GUncertain significance
Select item 1654451	NM_012470.4(TNPO3):c.2580C>T (p.Ile860=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 742696	NM_012470.4(TNPO3):c.2577G>A (p.Glu859=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 3327668	NM_012470.4(TNPO3):c.2574G>C (p.Trp858Cys)	TNPO3 (W794C +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 290289	NM_012470.4(TNPO3):c.2572T>C (p.Trp858Arg)	TNPO3 (W858R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1926047	NM_012470.4(TNPO3):c.2547C>T (p.Thr849=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 810197	NM_012470.4(TNPO3):c.2545A>T (p.Thr849Ser)	TNPO3 (T849S +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 798207	NM_012470.4(TNPO3):c.2545A>G (p.Thr849Ala)	TNPO3 (T849A +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GConflicting classifications of pathogenicity
Select item 1533774	NM_012470.4(TNPO3):c.2544T>C (p.Tyr848=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 533437	NM_012470.4(TNPO3):c.2543A>G (p.Tyr848Cys)	TNPO3 (Y848C +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 265274	NM_012470.4(TNPO3):c.2542del (p.Tyr848fs)	TNPO3 (Y784fs +7 more)	Deletion (frameshift variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +2 more	GConflicting classifications of pathogenicity
Select item 2109760	NM_012470.4(TNPO3):c.2541del (p.Tyr848fs)	TNPO3 (Y801fs +7 more)	Deletion (frameshift variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 757430	NM_012470.4(TNPO3):c.2541C>G (p.Pro847=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2200062	NM_012470.4(TNPO3):c.2540C>A (p.Pro847His)	TNPO3 (P800H +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 1525881	NM_012470.4(TNPO3):c.2540C>G (p.Pro847Arg)	TNPO3 (P783R +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 1001950	NM_012470.4(TNPO3):c.2539C>G (p.Pro847Ala)	TNPO3 (P783A +7 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 1372554	NM_012470.4(TNPO3):c.2534T>G (p.Leu845Arg)	TNPO3 (L781R +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 284285	NM_012470.4(TNPO3):c.2520C>G (p.Thr840=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 850974	NM_012470.4(TNPO3):c.2519C>A (p.Thr840Asn)	TNPO3 (T840N +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 1934577	NM_012470.4(TNPO3):c.2517C>T (p.His839=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2691509	NM_012470.4(TNPO3):c.2516A>C (p.His839Pro)	TNPO3 (H775P +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2036843	NM_012470.4(TNPO3):c.2514G>A (p.Leu838=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2915269	NM_012470.4(TNPO3):c.2503A>G (p.Ser835Gly)	TNPO3 (S799G +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 1617326	NM_012470.4(TNPO3):c.2502C>G (p.Val834=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2114701	NM_012470.4(TNPO3):c.2489G>C (p.Gly830Ala)	TNPO3 (G781A +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 760819	NM_012470.4(TNPO3):c.2481C>T (p.Asn827=)	TNPO3	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign
Select item 2136613	NM_012470.4(TNPO3):c.2453G>A (p.Arg818Gln)	TNPO3 (R771Q +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 135661	NM_012470.4(TNPO3):c.2453G>C (p.Arg818Pro)	TNPO3 (R818P +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GPathogenic
Select item 499013	NM_012470.4(TNPO3):c.2452C>T (p.Arg818Trp)	TNPO3 (R818W +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GUncertain significance
Select item 2186304	NM_012470.4(TNPO3):c.2441A>G (p.Asp814Gly)	TNPO3 (D765G +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 285573	NM_012470.4(TNPO3):c.2431-2A>C	TNPO3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GUncertain significance
Select item 291206	NM_012470.4(TNPO3):c.2431-6A>C	TNPO3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1295592	NM_012470.4(TNPO3):c.2431-115T>C	TNPO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672850	NM_012470.4(TNPO3):c.2430+199dup	TNPO3	Duplication (intron variant)	not provided	GLikely benign
Select item 1201969	NM_012470.4(TNPO3):c.2430+154A>G	TNPO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2153126	NM_012470.4(TNPO3):c.2430+9A>C	TNPO3	Single nucleotide variant (intron variant)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely benign

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