ClinVar for MedGen (Select 18404) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234080	NM_000455.5(STK11):c.503A>G (p.His168Arg)	STK11 (H168R)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3148620	NM_000455.5(STK11):c.785dup (p.Leu263fs)	STK11 (L263fs)	Duplication (frameshift variant +1 more)	Peutz-Jeghers syndrome	GPathogenic
Select item 3148610	NM_000455.5(STK11):c.295del (p.Ile99fs)	STK11 (I99fs)	Deletion (frameshift variant +1 more)	Peutz-Jeghers syndrome	GPathogenic
Select item 3148590	NM_000455.5(STK11):c.1132del (p.Ser378fs)	STK11 (S378fs)	Deletion (frameshift variant +1 more)	Peutz-Jeghers syndrome	GPathogenic
Select item 3148503	NM_000455.5(STK11):c.1020C>G (p.Tyr340Ter)	LOC130062899, STK11 (Y340*)	Single nucleotide variant (nonsense +1 more)	Peutz-Jeghers syndrome	GPathogenic
Select item 3148496	NM_000455.5(STK11):c.993dup (p.Trp332fs)	LOC130062899, STK11 (W332fs)	Duplication (frameshift variant +1 more)	Peutz-Jeghers syndrome	GPathogenic
Select item 3148416	NM_000455.5(STK11):c.290+1_290+2del	STK11	Deletion (splice donor variant)	Peutz-Jeghers syndrome	GLikely pathogenic
Select item 3148380	NM_000455.5(STK11):c.1161del (p.Lys388fs)	STK11 (K388fs)	Deletion (frameshift variant +1 more)	Peutz-Jeghers syndrome	GPathogenic
Select item 3148301	NM_000455.5(STK11):c.238del (p.Leu80fs)	STK11 (L80fs)	Deletion (frameshift variant +1 more)	Peutz-Jeghers syndrome	GPathogenic
Select item 3148294	NM_000455.5(STK11):c.498C>A (p.Tyr166Ter)	STK11 (Y166*)	Single nucleotide variant (nonsense +1 more)	Peutz-Jeghers syndrome	GPathogenic
Select item 3148085	NM_000455.5(STK11):c.1109-1G>A	STK11	Single nucleotide variant (splice acceptor variant)	Peutz-Jeghers syndrome	GLikely pathogenic
Select item 3147990	NM_000455.5(STK11):c.889A>G (p.Arg297Gly)	STK11 (R297G)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome	GLikely pathogenic
Select item 3074514	NM_000455.5(STK11):c.529A>G (p.Ile177Val)	STK11 (I177V)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3073417	NM_000455.5(STK11):c.929G>T (p.Arg310Leu)	STK11 (R310L)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3072972	NM_000455.5(STK11):c.401G>A (p.Cys134Tyr)	STK11 (C134Y)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3072667	NM_000455.5(STK11):c.566C>A (p.Thr189Asn)	STK11 (T189N)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3072640	NM_000455.5(STK11):c.1282T>C (p.Ser428Pro)	STK11 (S428P)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3072551	NM_000455.5(STK11):c.375-1C>A	STK11	Single nucleotide variant (splice acceptor variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3072485	NM_000455.5(STK11):c.938A>G (p.His313Arg)	STK11 (H313R)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3072086	NM_000455.5(STK11):c.1028A>G (p.Asp343Gly)	LOC130062899, STK11 (D343G)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3072004	NM_000455.5(STK11):c.1199T>C (p.Leu400Pro)	STK11 (L400P)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3071404	NM_000455.5(STK11):c.593C>G (p.Ala198Gly)	STK11 (A198G)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3070821	NM_000455.5(STK11):c.92C>A (p.Ser31Tyr)	STK11 (S31Y)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3070698	NM_000455.5(STK11):c.734_734+19dup	STK11	Duplication (splice donor variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3070547	NM_000455.5(STK11):c.165G>T (p.Leu55=)	STK11	Single nucleotide variant (synonymous variant +1 more)	Peutz-Jeghers syndrome	GLikely benign
Select item 3070165	NM_000455.5(STK11):c.389A>C (p.Glu130Ala)	STK11 (E130A)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3070128	NM_000455.5(STK11):c.*1G>C	STK11	Single nucleotide variant (3 prime UTR variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3069773	NM_000455.5(STK11):c.265C>A (p.Pro89Thr)	STK11 (P89T)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3069756	NM_000455.5(STK11):c.494A>G (p.Glu165Gly)	STK11 (E165G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3069267	NM_000455.5(STK11):c.836G>C (p.Gly279Ala)	STK11 (G279A)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3068246	NM_000455.5(STK11):c.577_578del (p.Ser193fs)	STK11 (S193fs)	Microsatellite (frameshift variant +1 more)	Peutz-Jeghers syndrome	GLikely pathogenic
Select item 3023393	NM_000455.5(STK11):c.735-13C>G	STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome	GLikely benign
Select item 3021555	NM_000455.5(STK11):c.1108+19C>G	LOC130062899, STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome	GLikely benign
Select item 3014272	NM_000455.5(STK11):c.606C>A (p.His202Gln)	STK11 (H202Q)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 3010206	NM_000455.5(STK11):c.961_962delinsT (p.Pro321fs)	STK11 (P321fs)	Indel (frameshift variant +1 more)	Peutz-Jeghers syndrome	GPathogenic
Select item 3005480	NM_000455.5(STK11):c.156G>A (p.Gly52=)	STK11	Single nucleotide variant (synonymous variant +1 more)	Peutz-Jeghers syndrome	GLikely benign
Select item 2994891	NM_000455.5(STK11):c.599C>T (p.Ala200Val)	STK11 (A200V)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2990058	NM_000455.5(STK11):c.492G>A (p.Leu164=)	STK11	Single nucleotide variant (synonymous variant +1 more)	Peutz-Jeghers syndrome	GLikely benign
Select item 2984853	NM_000455.5(STK11):c.920+14G>A	STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome	GLikely benign
Select item 2964309	NM_000455.5(STK11):c.374+10C>T	STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome	GLikely benign
Select item 2963865	NM_000455.5(STK11):c.786G>A (p.Lys262=)	STK11	Single nucleotide variant (synonymous variant +1 more)	Peutz-Jeghers syndrome	GLikely benign
Select item 2955384	NM_000455.5(STK11):c.290+20G>T	STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome	GLikely benign
Select item 2916579	NM_000455.5(STK11):c.339G>A (p.Leu113=)	STK11	Single nucleotide variant (synonymous variant +1 more)	Peutz-Jeghers syndrome	GLikely benign
Select item 2913608	NM_000455.5(STK11):c.1041G>T (p.Ala347=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant +1 more)	Peutz-Jeghers syndrome	GLikely benign
Select item 2913109	NM_000455.5(STK11):c.921-13T>C	STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome	GLikely benign
Select item 2910621	NM_000455.5(STK11):c.465-19G>C	STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome	GLikely benign
Select item 2910447	NM_000455.5(STK11):c.471_472del (p.Phe157fs)	STK11 (F157fs)	Deletion (frameshift variant +1 more)	Peutz-Jeghers syndrome	GPathogenic
Select item 2905286	NM_000455.5(STK11):c.290+19G>C	STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome	GLikely benign
Select item 2889490	NM_000455.5(STK11):c.465-16T>C	STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome	GLikely benign
Select item 2888294	NM_000455.5(STK11):c.902G>C (p.Arg301Pro)	STK11 (R301P)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2878192	NM_000455.5(STK11):c.735-16T>G	STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome	GLikely benign
Select item 2872507	NM_000455.5(STK11):c.465-13G>A	STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome	GLikely benign
Select item 2867474	NM_000455.5(STK11):c.291-19C>T	STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome	GLikely benign
Select item 2866793	NM_000455.5(STK11):c.1192G>C (p.Ala398Pro)	STK11 (A398P)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2863356	NM_000455.5(STK11):c.478C>G (p.Leu160Val)	STK11 (L160V)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2862985	NM_000455.5(STK11):c.476A>G (p.Gln159Arg)	STK11 (Q159R)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2859361	NM_000455.5(STK11):c.910C>G (p.Arg304Gly)	STK11 (R304G)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GLikely pathogenic
Select item 2857588	NM_000455.5(STK11):c.966C>T (p.Ile322=)	STK11	Single nucleotide variant (synonymous variant +1 more)	Peutz-Jeghers syndrome	GLikely benign
Select item 2856500	NM_000455.5(STK11):c.62dup (p.Met22fs)	STK11 (M22fs)	Duplication (frameshift variant +1 more)	Peutz-Jeghers syndrome	GPathogenic
Select item 2855434	NM_000455.5(STK11):c.290+6T>C	STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2855029	NM_000455.5(STK11):c.598-12G>C	STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome	GLikely benign
Select item 2853584	NM_000455.5(STK11):c.352T>G (p.Tyr118Asp)	STK11 (Y118D)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2853555	NM_000455.5(STK11):c.505A>G (p.Ser169Gly)	STK11 (S169G)	Single nucleotide variant (non-coding transcript variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2850565	NM_000455.5(STK11):c.1177A>T (p.Asn393Tyr)	STK11 (N393Y)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2850043	NM_000455.5(STK11):c.912G>A (p.Arg304=)	STK11	Single nucleotide variant (synonymous variant +1 more)	Peutz-Jeghers syndrome	GLikely benign
Select item 2849515	NM_000455.5(STK11):c.1109-19C>A	STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome	GLikely benign
Select item 2848585	NM_000455.5(STK11):c.1021T>C (p.Leu341=)	LOC130062899, STK11	Single nucleotide variant (synonymous variant +1 more)	Peutz-Jeghers syndrome	GLikely benign
Select item 2847332	NM_000455.5(STK11):c.124C>G (p.Arg42Gly)	STK11 (R42G)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2847026	NM_000455.5(STK11):c.804G>T (p.Gly268=)	STK11	Single nucleotide variant (synonymous variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2846806	NM_000455.5(STK11):c.587G>A (p.Gly196Asp)	STK11 (G196D)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2842671	NM_000455.5(STK11):c.752G>T (p.Gly251Val)	STK11 (G251V)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GLikely pathogenic
Select item 2842355	NM_000455.5(STK11):c.644G>T (p.Gly215Val)	STK11 (G215V)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2836550	NM_000455.5(STK11):c.915_920+5delinsCATCCGGCAGATCCGGCAGATGCCGGCAGATCCGGCAGATCCGGCAGATC	STK11	Indel (splice donor variant)	Peutz-Jeghers syndrome	GPathogenic
Select item 2831821	NM_000455.5(STK11):c.766G>C (p.Glu256Gln)	STK11 (E256Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2830653	NM_000455.5(STK11):c.734+22dup	STK11	Duplication (intron variant)	Peutz-Jeghers syndrome	GLikely benign
Select item 2829779	NM_000455.5(STK11):c.291-14C>G	STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome	GLikely benign
Select item 2829260	NM_000455.5(STK11):c.597+4G>C	STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2827484	NM_000455.5(STK11):c.439C>G (p.Arg147Gly)	STK11 (R147G)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2827105	NM_000455.5(STK11):c.557C>T (p.Thr186Ile)	STK11 (T186I)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2823858	NM_000455.5(STK11):c.1110A>G (p.Gly370=)	STK11	Single nucleotide variant (synonymous variant +1 more)	Peutz-Jeghers syndrome	GLikely benign
Select item 2822587	NM_000455.5(STK11):c.865A>G (p.Met289Val)	STK11 (M289V)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2819981	NM_000455.5(STK11):c.140G>A (p.Gly47Asp)	STK11 (G47D)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2818278	NM_000455.5(STK11):c.1281G>C (p.Leu427=)	STK11	Single nucleotide variant (synonymous variant +1 more)	Peutz-Jeghers syndrome	GLikely benign
Select item 2818066	NM_000455.5(STK11):c.979G>C (p.Asp327His)	STK11 (D327H)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2817436	NM_000455.5(STK11):c.1250C>A (p.Ala417Asp)	STK11 (A417D)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2816360	NM_000455.5(STK11):c.1109-20A>T	STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome	GLikely benign
Select item 2815955	NM_000455.5(STK11):c.710A>C (p.Asp237Ala)	STK11 (D237A)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2814994	NM_000455.5(STK11):c.95C>T (p.Thr32Ile)	STK11 (T32I)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2812981	NM_000455.5(STK11):c.1109-19C>G	STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome	GLikely benign
Select item 2811478	NM_000455.5(STK11):c.563G>A (p.Gly188Asp)	STK11 (G188D)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2810644	NM_000455.5(STK11):c.287A>G (p.Lys96Arg)	STK11 (K96R)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2810312	NM_000455.5(STK11):c.1124A>C (p.Glu375Ala)	STK11 (E375A)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2809117	NM_000455.5(STK11):c.715_719dup (p.Ala241fs)	STK11 (A241fs)	Duplication (frameshift variant +1 more)	Peutz-Jeghers syndrome	GPathogenic
Select item 2806651	NM_000455.5(STK11):c.939T>C (p.His313=)	STK11	Single nucleotide variant (synonymous variant +1 more)	Peutz-Jeghers syndrome	GLikely benign
Select item 2805216	NM_000455.5(STK11):c.735-16T>A	STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome	GLikely benign
Select item 2804228	NM_000455.5(STK11):c.1108+16dup	LOC130062899, STK11	Duplication (intron variant)	Peutz-Jeghers syndrome	GBenign
Select item 2803275	NM_000455.5(STK11):c.309G>A (p.Arg103=)	STK11	Single nucleotide variant (synonymous variant +1 more)	Peutz-Jeghers syndrome	GLikely benign
Select item 2797648	NM_000455.5(STK11):c.877G>C (p.Glu293Gln)	STK11 (E293Q)	Single nucleotide variant (missense variant +1 more)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2790004	NM_000455.5(STK11):c.374+5C>T	STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome	GUncertain significance
Select item 2789239	NM_000455.5(STK11):c.920+10C>T	STK11	Single nucleotide variant (intron variant)	Peutz-Jeghers syndrome	GLikely benign

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