ClinVar for Gene (Select 390594) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3390923	NM_001101362.3(KBTBD13):c.1309C>T (p.Gln437Ter)	KBTBD13 (Q437*)	Single nucleotide variant (nonsense)	Colorectal cancer, susceptibility to, 12	GUncertain significance
Select item 3380301	NM_001101362.3(KBTBD13):c.1167C>G (p.Ser389Arg)	KBTBD13 (S389R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373529	NM_001101362.3(KBTBD13):c.1205C>G (p.Thr402Ser)	KBTBD13 (T402S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360903	NM_001101362.3(KBTBD13):c.865G>A (p.Ala289Thr)	KBTBD13 (A289T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359138	NM_001101362.3(KBTBD13):c.1250A>T (p.Glu417Val)	KBTBD13 (E417V)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 3349217	NM_001101362.3(KBTBD13):c.803A>G (p.Gln268Arg)	KBTBD13 (Q268R)	Single nucleotide variant (missense variant)	KBTBD13-related disorder	GUncertain significance
Select item 3339528	NM_001101362.3(KBTBD13):c.223G>C (p.Glu75Gln)	KBTBD13 (E75Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287461	NM_001101362.3(KBTBD13):c.334G>C (p.Ala112Pro)	KBTBD13 (A112P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287460	NM_001101362.3(KBTBD13):c.419T>C (p.Leu140Pro)	KBTBD13 (L140P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287459	NM_001101362.3(KBTBD13):c.349G>A (p.Gly117Ser)	KBTBD13 (G117S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243775	NC_000015.9:g.(?_65369154)_(65370530_?)dup	KBTBD13	Duplication	Nemaline myopathy 6	GUncertain significance
Select item 3233487	NM_001101362.3(KBTBD13):c.581C>A (p.Pro194His)	KBTBD13 (P194H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112954	NM_001101362.3(KBTBD13):c.848G>C (p.Gly283Ala)	KBTBD13 (G283A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112952	NM_001101362.3(KBTBD13):c.484A>T (p.Thr162Ser)	KBTBD13 (T162S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112951	NM_001101362.3(KBTBD13):c.274G>T (p.Ala92Ser)	KBTBD13 (A92S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112950	NM_001101362.3(KBTBD13):c.221C>T (p.Ala74Val)	KBTBD13 (A74V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112948	NM_001101362.3(KBTBD13):c.1142C>A (p.Ala381Glu)	KBTBD13 (A381E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067479	NM_001101362.3(KBTBD13):c.133G>A (p.Ala45Thr)	KBTBD13 (A45T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3044066	NM_001101362.3(KBTBD13):c.-3G>A	KBTBD13	Single nucleotide variant (5 prime UTR variant)	KBTBD13-related disorder	GLikely benign
Select item 3020933	NM_001101362.3(KBTBD13):c.392A>C (p.Asp131Ala)	KBTBD13 (D131A)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 3014089	NM_001101362.3(KBTBD13):c.957del (p.Val320fs)	KBTBD13 (V320fs)	Deletion (frameshift variant)	Nemaline myopathy 6	GLikely benign
Select item 3003544	NM_001101362.3(KBTBD13):c.610G>A (p.Val204Met)	KBTBD13 (V204M)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 3003390	NM_001101362.3(KBTBD13):c.34T>G (p.Trp12Gly)	KBTBD13 (W12G)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2997261	NM_001101362.3(KBTBD13):c.449C>T (p.Ala150Val)	KBTBD13 (A150V)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2995074	NM_001101362.3(KBTBD13):c.139G>A (p.Glu47Lys)	KBTBD13 (E47K)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2992564	NM_001101362.3(KBTBD13):c.1366del (p.Ala456fs)	KBTBD13 (A456fs)	Deletion (frameshift variant)	Nemaline myopathy 6	GUncertain significance
Select item 2989350	NM_001101362.3(KBTBD13):c.182C>T (p.Thr61Met)	KBTBD13 (T61M)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2985108	NM_001101362.3(KBTBD13):c.656G>C (p.Gly219Ala)	KBTBD13 (G219A)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2975877	NM_001101362.3(KBTBD13):c.145C>T (p.Arg49Cys)	KBTBD13 (R49C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2975196	NM_001101362.3(KBTBD13):c.194T>C (p.Leu65Pro)	KBTBD13 (L65P)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2975149	NM_001101362.3(KBTBD13):c.1047C>T (p.His349=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2968677	NM_001101362.3(KBTBD13):c.862G>A (p.Val288Met)	KBTBD13 (V288M)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2967782	NM_001101362.3(KBTBD13):c.958G>C (p.Val320Leu)	KBTBD13 (V320L)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2965423	NM_001101362.3(KBTBD13):c.972A>G (p.Ala324=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2958883	NM_001101362.3(KBTBD13):c.152G>C (p.Gly51Ala)	KBTBD13 (G51A)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2920009	NM_001101362.3(KBTBD13):c.537C>T (p.Tyr179=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2916461	NM_001101362.3(KBTBD13):c.475_478dup (p.Val160fs)	KBTBD13 (V160fs)	Duplication (frameshift variant)	Nemaline myopathy 6	GUncertain significance
Select item 2915818	NM_001101362.3(KBTBD13):c.495C>G (p.Pro165=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2914587	NM_001101362.3(KBTBD13):c.579G>A (p.Leu193=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2913907	NM_001101362.3(KBTBD13):c.241_242insTCGTGGAGTGCGCCGCCTTCCTCCAGGCGCCGGCGCTGGCGGCGGAGGACGAGCTGCTGCAGG (p.Gln80_Ala81insValValGluCysAlaAlaPheLeuGlnAlaProAlaLeuAlaAlaGluAspGluLeuLeuGln)	KBTBD13	Insertion (inframe_insertion)	Nemaline myopathy 6	GUncertain significance
Select item 2913595	NM_001101362.3(KBTBD13):c.381_382dup (p.Phe128fs)	KBTBD13 (F128fs)	Microsatellite (frameshift variant)	Nemaline myopathy 6	GUncertain significance
Select item 2912632	NM_001101362.3(KBTBD13):c.888del (p.Gly297fs)	KBTBD13 (G297fs)	Deletion (frameshift variant)	Nemaline myopathy 6	GUncertain significance
Select item 2911718	NM_001101362.3(KBTBD13):c.315C>T (p.Asn105=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2908711	NM_001101362.3(KBTBD13):c.746A>G (p.Tyr249Cys)	KBTBD13 (Y249C)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2908144	NM_001101362.3(KBTBD13):c.1196G>A (p.Arg399His)	KBTBD13 (R399H)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2908143	NM_001101362.3(KBTBD13):c.439G>A (p.Ala147Thr)	KBTBD13 (A147T)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2906984	NM_001101362.3(KBTBD13):c.1002C>T (p.Ala334=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2906421	NM_001101362.3(KBTBD13):c.336G>C (p.Ala112=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2905524	NM_001101362.3(KBTBD13):c.751A>C (p.Thr251Pro)	KBTBD13 (T251P)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2890678	NM_001101362.3(KBTBD13):c.369C>T (p.His123=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2887766	NM_001101362.3(KBTBD13):c.357C>G (p.Arg119=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2886651	NM_001101362.3(KBTBD13):c.1050C>T (p.Arg350=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2885905	NM_001101362.3(KBTBD13):c.272_286dup (p.Arg95_Phe96insSerAlaLeuAlaArg)	KBTBD13	Duplication (inframe_insertion)	Nemaline myopathy 6	GUncertain significance
Select item 2872596	NM_001101362.3(KBTBD13):c.1066G>C (p.Val356Leu)	KBTBD13 (V356L)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2866471	NM_001101362.3(KBTBD13):c.402C>G (p.Arg134=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2853036	NM_001101362.3(KBTBD13):c.40G>A (p.Gly14Ser)	KBTBD13 (G14S)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2847919	NM_001101362.3(KBTBD13):c.143T>C (p.Val48Ala)	KBTBD13 (V48A)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2843643	NM_001101362.3(KBTBD13):c.1358C>G (p.Ser453Trp)	KBTBD13 (S453W)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2832688	NM_001101362.3(KBTBD13):c.325_327dup (p.Leu109_Cys110insLeu)	KBTBD13	Duplication (inframe_insertion)	Nemaline myopathy 6	GUncertain significance
Select item 2808990	NM_001101362.3(KBTBD13):c.113C>G (p.Ser38Cys)	KBTBD13 (S38C)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2791785	NM_001101362.3(KBTBD13):c.283C>T (p.Arg95Cys)	KBTBD13 (R95C)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2788009	NM_001101362.3(KBTBD13):c.360C>G (p.Asp120Glu)	KBTBD13 (D120E)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2764947	NM_001101362.3(KBTBD13):c.291G>C (p.Leu97=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GUncertain significance
Select item 2757271	NM_001101362.3(KBTBD13):c.642G>C (p.Val214=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2748360	NM_001101362.3(KBTBD13):c.1171G>A (p.Gly391Arg)	KBTBD13 (G391R)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2748285	NM_001101362.3(KBTBD13):c.1356T>G (p.Thr452=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GUncertain significance
Select item 2742178	NM_001101362.3(KBTBD13):c.474G>C (p.Ala158=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2741352	NM_001101362.3(KBTBD13):c.423G>A (p.Ala141=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GUncertain significance
Select item 2740529	NM_001101362.3(KBTBD13):c.1044C>G (p.Ala348=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GUncertain significance
Select item 2740011	NM_001101362.3(KBTBD13):c.1158C>G (p.Phe386Leu)	KBTBD13 (F386L)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2728958	NM_001101362.3(KBTBD13):c.136G>C (p.Ala46Pro)	KBTBD13 (A46P)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2728856	NM_001101362.3(KBTBD13):c.331G>T (p.Asp111Tyr)	KBTBD13 (D111Y)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2728107	NM_001101362.3(KBTBD13):c.541G>T (p.Asp181Tyr)	KBTBD13 (D181Y)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2724473	NM_001101362.3(KBTBD13):c.549A>G (p.Glu183=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2723477	NM_001101362.3(KBTBD13):c.1249G>C (p.Glu417Gln)	KBTBD13 (E417Q)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2722954	NM_001101362.3(KBTBD13):c.797_798delinsTG (p.Glu266Val)	KBTBD13 (E266V)	Indel (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2720978	NM_001101362.3(KBTBD13):c.481A>T (p.Ser161Cys)	KBTBD13 (S161C)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2718167	NM_001101362.3(KBTBD13):c.1122G>A (p.Leu374=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2712552	NM_001101362.3(KBTBD13):c.625A>T (p.Asn209Tyr)	KBTBD13 (N209Y)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2711724	NM_001101362.3(KBTBD13):c.738G>A (p.Gln246=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GUncertain significance
Select item 2710037	NM_001101362.3(KBTBD13):c.1365G>C (p.Thr455=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2706925	NM_001101362.3(KBTBD13):c.1292C>T (p.Pro431Leu)	KBTBD13 (P431L)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2706557	NM_001101362.3(KBTBD13):c.697C>A (p.Pro233Thr)	KBTBD13 (P233T)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2703311	NM_001101362.3(KBTBD13):c.988T>A (p.Trp330Arg)	KBTBD13 (W330R)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2698989	NM_001101362.3(KBTBD13):c.627C>T (p.Asn209=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GUncertain significance
Select item 2671700	NM_001101362.3(KBTBD13):c.212C>A (p.Ala71Glu)	KBTBD13 (A71E)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2663199	NM_001101362.3(KBTBD13):c.340dup (p.Ala114fs)	KBTBD13 (A114fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2645456	NM_001101362.3(KBTBD13):c.1273A>C (p.Arg425=)	KBTBD13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645455	NM_001101362.3(KBTBD13):c.597G>A (p.Thr199=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6 +1 more	GLikely benign
Select item 2645454	NM_001101362.3(KBTBD13):c.27G>A (p.Val9=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6 +1 more	GConflicting classifications of pathogenicity
Select item 2628547	NM_001101362.3(KBTBD13):c.877C>T (p.Gln293Ter)	KBTBD13 (Q293*)	Single nucleotide variant (nonsense)	KBTBD13-related disorder	GUncertain significance
Select item 2611511	NM_001101362.3(KBTBD13):c.1312A>G (p.Thr438Ala)	KBTBD13 (T438A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604320	NM_001101362.3(KBTBD13):c.340G>A (p.Ala114Thr)	KBTBD13 (A114T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582936	NM_001101362.3(KBTBD13):c.293A>G (p.Glu98Gly)	KBTBD13 (E98G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580995	NM_001101362.3(KBTBD13):c.261C>A (p.Phe87Leu)	KBTBD13 (F87L)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2574507	NM_001101362.3(KBTBD13):c.655G>A (p.Gly219Ser)	KBTBD13 (G219S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2547120	NM_001101362.3(KBTBD13):c.757C>A (p.Leu253Met)	KBTBD13 (L253M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432984	NM_001101362.3(KBTBD13):c.176_177delinsAG (p.Arg59Gln)	KBTBD13 (R59Q)	Indel (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2432982	NM_001101362.3(KBTBD13):c.350G>C (p.Gly117Ala)	KBTBD13 (G117A)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2432981	NM_001101362.3(KBTBD13):c.166G>A (p.Gly56Arg)	KBTBD13 (G56R)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance

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