ClinVar for MedGen (Select 1684759) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 916

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243395	NC_000016.9:g.(?_50731155)_(51631253_?)dup	CYLD, NOD2 +1 more	Duplication	Regional enteritis +1 more	GUncertain significance
Select item 3068617	NM_001370466.1(NOD2):c.139T>C (p.Phe47Leu)	NOD2 (F47L +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome	GUncertain significance
Select item 2954546	NM_001370466.1(NOD2):c.1141T>G (p.Phe381Val)	NOD2 (F381V +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2953250	NM_001370466.1(NOD2):c.2649A>G (p.Arg883=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2953198	NM_001370466.1(NOD2):c.2042G>C (p.Arg681Pro)	NOD2 (R708P +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2952560	NM_001370466.1(NOD2):c.1071C>T (p.Phe357=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2952402	NM_001370466.1(NOD2):c.399T>A (p.Gly133=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2952199	NM_001370466.1(NOD2):c.1363T>C (p.Leu455=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2951496	NM_001370466.1(NOD2):c.459+17G>C	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 2951478	NM_001370466.1(NOD2):c.676A>G (p.Thr226Ala)	NOD2 (T226A +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2951437	NM_001370466.1(NOD2):c.2115C>T (p.Ser705=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2950957	NM_001370466.1(NOD2):c.1338C>T (p.Leu446=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2950869	NM_001370466.1(NOD2):c.1356G>A (p.Leu452=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2950164	NM_001370466.1(NOD2):c.2466-6G>A	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 2950157	NM_001370466.1(NOD2):c.1939A>G (p.Thr647Ala)	NOD2 (T674A +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2949800	NM_001370466.1(NOD2):c.1086G>C (p.Thr362=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2949556	NM_001370466.1(NOD2):c.578A>G (p.Lys193Arg)	NOD2 (K193R +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2949396	NM_001370466.1(NOD2):c.2717+18T>C	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 2948891	NM_001370466.1(NOD2):c.1429G>A (p.Gly477Arg)	NOD2 (G477R +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2948852	NM_001370466.1(NOD2):c.3036G>T (p.Leu1012Phe)	CYLD-AS1, NOD2 (L1039F +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2948828	NM_001370466.1(NOD2):c.1560C>T (p.Leu520=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2948463	NM_001370466.1(NOD2):c.-8-2184G>T	NOD2 (G21*)	Single nucleotide variant (nonsense +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2948146	NM_001370466.1(NOD2):c.2831G>C (p.Gly944Ala)	NOD2 (G971A +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2948015	NM_001370466.1(NOD2):c.2106G>A (p.Glu702=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2947375	NM_001370466.1(NOD2):c.1728C>T (p.His576=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2947207	NM_001370466.1(NOD2):c.1976A>C (p.His659Pro)	NOD2 (H659P +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2946337	NM_001370466.1(NOD2):c.1846C>T (p.Leu616Phe)	NOD2 (L616F +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2946319	NM_001370466.1(NOD2):c.1035C>T (p.Asp345=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2945987	NM_001370466.1(NOD2):c.176G>A (p.Arg59Lys)	NOD2 (R86K +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2945824	NM_001370466.1(NOD2):c.1174G>A (p.Ala392Thr)	NOD2 (A392T +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2945691	NM_001370466.1(NOD2):c.2585A>C (p.Gln862Pro)	NOD2 (Q862P +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2945641	NM_001370466.1(NOD2):c.2633+12T>C	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 2945472	NM_001370466.1(NOD2):c.809dup (p.Val271fs)	NOD2 (V271fs +1 more)	Duplication (frameshift variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2945171	NM_001370466.1(NOD2):c.1382T>C (p.Phe461Ser)	NOD2 (F461S +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2944867	NM_001370466.1(NOD2):c.54G>A (p.Leu18=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 2944766	NM_001370466.1(NOD2):c.1589G>T (p.Gly530Val)	NOD2 (G530V +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2944264	NM_001370466.1(NOD2):c.1572C>T (p.Gly524=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 2944063	NM_001370466.1(NOD2):c.1581T>A (p.Ala527=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 2943764	NM_001370466.1(NOD2):c.2856G>A (p.Leu952=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 2943520	NM_001370466.1(NOD2):c.1650T>C (p.Pro550=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2943478	NM_001370466.1(NOD2):c.425A>G (p.Glu142Gly)	NOD2 (E142G +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2943157	NM_001370466.1(NOD2):c.2067C>T (p.Arg689=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2942821	NM_001370466.1(NOD2):c.2590C>G (p.Leu864Val)	NOD2 (L891V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2942565	NM_001370466.1(NOD2):c.2718-11A>T	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 2941716	NM_001370466.1(NOD2):c.2369G>A (p.Cys790Tyr)	NOD2 (C790Y +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2941599	NM_001370466.1(NOD2):c.2381+12T>A	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 2941579	NM_001370466.1(NOD2):c.70G>T (p.Glu24Ter)	NOD2 (E24* +1 more)	Single nucleotide variant (nonsense +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2941226	NM_001370466.1(NOD2):c.1227G>T (p.Lys409Asn)	NOD2 (K409N +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2941190	NM_001370466.1(NOD2):c.1184T>G (p.Val395Gly)	NOD2 (V422G +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2940981	NM_001370466.1(NOD2):c.-8-2219C>T	NOD2 (S9F)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2940882	NM_001370466.1(NOD2):c.2549+8C>T	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 2940561	NM_001370466.1(NOD2):c.397G>A (p.Gly133Ser)	NOD2 (G133S +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2940541	NM_001370466.1(NOD2):c.1121C>A (p.Thr374Asn)	NOD2 (T374N +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2940316	NM_001370466.1(NOD2):c.2634-15T>C	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 2940111	NM_001370466.1(NOD2):c.2123C>T (p.Ala708Val)	NOD2 (A735V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2940073	NM_001370466.1(NOD2):c.699G>C (p.Trp233Cys)	NOD2 (W233C +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2939893	NM_001370466.1(NOD2):c.2802-8C>G	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 2939855	NM_001370466.1(NOD2):c.1851_1852delinsAA (p.Pro618Thr)	NOD2 (P618T +1 more)	Indel (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2939629	NM_001370466.1(NOD2):c.1360G>A (p.Gly454Ser)	NOD2 (G481S +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2939466	NM_001370466.1(NOD2):c.29A>G (p.Gln10Arg)	NOD2 (Q10R +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2939106	NM_001370466.1(NOD2):c.1114G>A (p.Asp372Asn)	NOD2 (D399N +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2938840	NM_001370466.1(NOD2):c.185T>C (p.Leu62Pro)	NOD2 (L89P +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2938818	NM_001370466.1(NOD2):c.1766C>T (p.Ala589Val)	NOD2 (A589V +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2938717	NM_001370466.1(NOD2):c.2633+7T>C	NOD2	Single nucleotide variant (intron variant)	Blau syndrome +1 more	GLikely benign
Select item 2938328	NM_001370466.1(NOD2):c.452_453delinsTG (p.Ser151Leu)	NOD2 (S151L +1 more)	Indel (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2937969	NM_001370466.1(NOD2):c.2163G>A (p.Glu721=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 2937950	NM_001370466.1(NOD2):c.444C>T (p.Phe148=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Blau syndrome +1 more	GLikely benign
Select item 2937622	NM_001370466.1(NOD2):c.375G>T (p.Met125Ile)	NOD2 (M125I +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome +1 more	GUncertain significance
Select item 2937452	NM_001370466.1(NOD2):c.509C>T (p.Ala170Val)	NOD2 (A170V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2937447	NM_001370466.1(NOD2):c.721C>G (p.Pro241Ala)	NOD2 (P241A +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2937144	NM_001370466.1(NOD2):c.525T>C (p.His175=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2937093	NM_001370466.1(NOD2):c.183T>C (p.Leu61=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2937013	NM_001370466.1(NOD2):c.2548A>G (p.Arg850Gly)	NOD2 (R850G +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2936995	NM_001370466.1(NOD2):c.903C>T (p.Val301=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2936884	NM_001370466.1(NOD2):c.529C>T (p.Gln177Ter)	NOD2 (Q177* +1 more)	Single nucleotide variant (nonsense +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2936815	NM_001370466.1(NOD2):c.1445C>G (p.Thr482Ser)	NOD2 (T509S +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2936669	NM_001370466.1(NOD2):c.2421G>A (p.Lys807=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2936518	NM_001370466.1(NOD2):c.2137A>G (p.Ile713Val)	NOD2 (I713V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2936517	NM_001370466.1(NOD2):c.2624A>G (p.Gln875Arg)	NOD2 (Q875R +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2936499	NM_001370466.1(NOD2):c.2969+13G>A	CYLD-AS1, NOD2	Single nucleotide variant (non-coding transcript variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2936162	NM_001370466.1(NOD2):c.282C>A (p.Gly94=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2935987	NM_001370466.1(NOD2):c.817G>T (p.Glu273Ter)	NOD2 (E273* +1 more)	Single nucleotide variant (nonsense +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2934983	NM_001370466.1(NOD2):c.2096C>T (p.Ala699Val)	NOD2 (A726V +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2934952	NM_001370466.1(NOD2):c.-8G>C	NOD2 (G25A)	Single nucleotide variant (5 prime UTR variant +2 more)	Regional enteritis +1 more	GUncertain significance
Select item 2934753	NM_001370466.1(NOD2):c.1520G>A (p.Gly507Asp)	NOD2 (G507D +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2934735	NM_001370466.1(NOD2):c.2465+20G>A	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 2934648	NM_001370466.1(NOD2):c.2466-8C>A	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 2934377	NM_001370466.1(NOD2):c.909A>G (p.Pro303=)	NOD2	Single nucleotide variant (synonymous variant +1 more)	Regional enteritis +1 more	GLikely benign
Select item 2933900	NM_001370466.1(NOD2):c.2837G>A (p.Cys946Tyr)	NOD2 (C973Y +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2933577	NM_001370466.1(NOD2):c.1516C>T (p.Gln506Ter)	NOD2 (Q506* +1 more)	Single nucleotide variant (nonsense +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2933568	NM_001370466.1(NOD2):c.1441A>G (p.Lys481Glu)	NOD2 (K481E +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2933417	NM_001370466.1(NOD2):c.1648C>T (p.Pro550Ser)	NOD2 (P577S +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2933406	NM_001370466.1(NOD2):c.3002T>C (p.Val1001Ala)	CYLD-AS1, NOD2 (V1028A +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2933204	NM_001370466.1(NOD2):c.376_377insA (p.Leu126fs)	NOD2 (L126fs +1 more)	Insertion (frameshift variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2933157	NM_001370466.1(NOD2):c.2718-13_2718-9del	NOD2	Deletion (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 2932987	NM_001370466.1(NOD2):c.1430G>A (p.Gly477Glu)	NOD2 (G477E +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2932773	NM_001370466.1(NOD2):c.2737G>A (p.Gly913Ser)	NOD2 (G940S +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2932739	NM_001370466.1(NOD2):c.3037C>A (p.Leu1013Ile)	CYLD-AS1, NOD2 (L1040I +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GUncertain significance
Select item 2932445	NM_001370466.1(NOD2):c.565+18G>A	NOD2	Single nucleotide variant (intron variant)	Regional enteritis +1 more	GLikely benign
Select item 2931856	NM_001370466.1(NOD2):c.1541G>C (p.Arg514Pro)	NOD2 (R541P +1 more)	Single nucleotide variant (missense variant +1 more)	Regional enteritis +1 more	GLikely benign

<< First< Prev

Page of 10