ClinVar for MedGen (Select 373095) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243775	NC_000015.9:g.(?_65369154)_(65370530_?)dup	KBTBD13	Duplication	Nemaline myopathy 6	GUncertain significance
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)	Nemaline myopathy 6 +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 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)	not provided +1 more	GConflicting classifications of pathogenicity
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 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
Select item 2420026	NM_001101362.3(KBTBD13):c.987G>A (p.Ala329=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2417637	NM_001101362.3(KBTBD13):c.614C>T (p.Ala205Val)	KBTBD13 (A205V)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2413527	NM_001101362.3(KBTBD13):c.1322T>A (p.Leu441Gln)	KBTBD13 (L441Q)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2336130	NM_001101362.3(KBTBD13):c.1361C>T (p.Thr454Ile)	KBTBD13 (T454I)	Single nucleotide variant (missense variant)	Nemaline myopathy 6 +1 more	GUncertain significance
Select item 2195867	NM_001101362.3(KBTBD13):c.1187C>T (p.Ala396Val)	KBTBD13 (A396V)	Single nucleotide variant (missense variant)	Nemaline myopathy 6 +1 more	GUncertain significance
Select item 2195418	NM_001101362.3(KBTBD13):c.140A>G (p.Glu47Gly)	KBTBD13 (E47G)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2193981	NM_001101362.3(KBTBD13):c.292G>T (p.Glu98Ter)	KBTBD13 (E98*)	Single nucleotide variant (nonsense)	Nemaline myopathy 6	GUncertain significance
Select item 2193360	NM_001101362.3(KBTBD13):c.1048C>T (p.Arg350Cys)	KBTBD13 (R350C)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2189076	NM_001101362.3(KBTBD13):c.142G>T (p.Val48Leu)	KBTBD13 (V48L)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GLikely benign
Select item 2185370	NM_001101362.3(KBTBD13):c.580C>T (p.Pro194Ser)	KBTBD13 (P194S)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2185367	NM_001101362.3(KBTBD13):c.1299C>T (p.Pro433=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2182968	NM_001101362.3(KBTBD13):c.225G>A (p.Glu75=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2179808	NM_001101362.3(KBTBD13):c.199G>A (p.Gly67Ser)	KBTBD13 (G67S)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2173632	NM_001101362.3(KBTBD13):c.1264C>A (p.Arg422=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2171371	NM_001101362.3(KBTBD13):c.886G>A (p.Ala296Thr)	KBTBD13 (A296T)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2160014	NM_001101362.3(KBTBD13):c.174C>A (p.Phe58Leu)	KBTBD13 (F58L)	Single nucleotide variant (missense variant)	Nemaline myopathy 6 +1 more	GUncertain significance
Select item 2159714	NM_001101362.3(KBTBD13):c.700G>A (p.Asp234Asn)	KBTBD13 (D234N)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2158915	NM_001101362.3(KBTBD13):c.654C>T (p.Arg218=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2157012	NM_001101362.3(KBTBD13):c.784G>A (p.Ala262Thr)	KBTBD13 (A262T)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2156299	NM_001101362.3(KBTBD13):c.1001C>A (p.Ala334Asp)	KBTBD13 (A334D)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2155087	NM_001101362.3(KBTBD13):c.1025A>G (p.Tyr342Cys)	KBTBD13 (Y342C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2154321	NM_001101362.3(KBTBD13):c.141G>A (p.Glu47=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2154109	NM_001101362.3(KBTBD13):c.1150G>A (p.Gly384Ser)	KBTBD13 (G384S)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2153964	NM_001101362.3(KBTBD13):c.867C>T (p.Ala289=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2153471	NM_001101362.3(KBTBD13):c.25G>T (p.Val9Leu)	KBTBD13 (V9L)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GUncertain significance
Select item 2150003	NM_001101362.3(KBTBD13):c.21C>T (p.Thr7=)	KBTBD13	Single nucleotide variant (synonymous variant)	Nemaline myopathy 6	GLikely benign
Select item 2148720	NM_001101362.3(KBTBD13):c.370A>G (p.Ser124Gly)	KBTBD13 (S124G)	Single nucleotide variant (missense variant)	Nemaline myopathy 6	GBenign

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