ClinVar for MedGen (Select 1648569) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064957	NM_001556.3(IKBKB):c.923dup (p.Asn308fs)	IKBKB (N244fs +2 more)	Duplication (frameshift variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely pathogenic
Select item 3023530	NM_001556.3(IKBKB):c.1364+13G>T	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 3019227	NM_001556.3(IKBKB):c.1023A>G (p.Gln341=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 3018887	NM_001556.3(IKBKB):c.1516+12C>T	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 3018886	NM_001556.3(IKBKB):c.380G>A (p.Ser127Asn)	IKBKB, LOC126860373 (S63N +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 3018561	NM_001556.3(IKBKB):c.1364+16T>A	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 3018397	NM_001556.3(IKBKB):c.388+13C>G	IKBKB, LOC126860373	Single nucleotide variant (non-coding transcript variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 3018387	NM_001556.3(IKBKB):c.2115-3T>C	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 3017412	NM_001556.3(IKBKB):c.105+19T>C	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 3016931	NM_001556.3(IKBKB):c.792T>C (p.Asn264=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 3016632	NM_001556.3(IKBKB):c.1738+9G>A	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 3016453	NM_001556.3(IKBKB):c.1896G>A (p.Val632=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 3016243	NM_001556.3(IKBKB):c.318+14G>A	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 3012458	NM_001556.3(IKBKB):c.1241-12C>G	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 3011709	NM_001556.3(IKBKB):c.687G>A (p.Val229=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 3010349	NM_001556.3(IKBKB):c.723G>A (p.Val241=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 3008252	NM_001556.3(IKBKB):c.1688+19G>T	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 3006118	NM_001556.3(IKBKB):c.1735C>T (p.Arg579Ter)	IKBKB (R520* +2 more)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GPathogenic
Select item 3002888	NM_001556.3(IKBKB):c.2005G>C (p.Val669Leu)	IKBKB (V610L +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 3002319	NM_001556.3(IKBKB):c.1986+16G>T	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 3002139	NM_001556.3(IKBKB):c.1336C>A (p.Arg446=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 3001609	NM_001556.3(IKBKB):c.106-4G>A	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2999360	NM_001556.3(IKBKB):c.699A>C (p.Ser233=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2998025	NM_001556.3(IKBKB):c.2043T>C (p.Leu681=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2997711	NM_001556.3(IKBKB):c.200+14G>C	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2994984	NM_001556.3(IKBKB):c.801-12T>C	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2989149	NM_001556.3(IKBKB):c.27G>A (p.Thr9=)	IKBKB	Single nucleotide variant (5 prime UTR variant +3 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2988057	NM_001556.3(IKBKB):c.2259G>A (p.Glu753=)	IKBKB	Single nucleotide variant (non-coding transcript variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2986636	NM_001556.3(IKBKB):c.1416G>C (p.Met472Ile)	IKBKB (M472I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 2985425	NM_001556.3(IKBKB):c.200+15C>T	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2984408	NM_001556.3(IKBKB):c.1125+20A>T	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2982647	NM_001556.3(IKBKB):c.800+12C>T	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2981390	NM_001556.3(IKBKB):c.780C>T (p.Pro260=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2980748	NM_001556.3(IKBKB):c.1172A>G (p.Asp391Gly)	IKBKB (D327G +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 2980040	NM_001556.3(IKBKB):c.1364+16_1364+17insG	IKBKB	Insertion (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2978554	NM_001556.3(IKBKB):c.1254G>A (p.Lys418=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2975498	NM_001556.3(IKBKB):c.891T>C (p.Asn297=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2974586	NM_001556.3(IKBKB):c.1959G>A (p.Glu653=)	IKBKB	Single nucleotide variant (non-coding transcript variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2974483	NM_001556.3(IKBKB):c.552G>A (p.Gly184=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2973812	NM_001556.3(IKBKB):c.1125+16G>A	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2973623	NM_001556.3(IKBKB):c.2115-11A>G	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2972158	NM_001556.3(IKBKB):c.1125+15C>T	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2971339	NM_001556.3(IKBKB):c.597C>T (p.Tyr199=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2970181	NM_001556.3(IKBKB):c.318+16C>T	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2968344	NM_001556.3(IKBKB):c.388+16G>A	IKBKB, LOC126860373	Single nucleotide variant (non-coding transcript variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2967975	NM_001556.3(IKBKB):c.282G>A (p.Leu94=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2963080	NM_001556.3(IKBKB):c.1930G>A (p.Val644Ile)	IKBKB (V580I +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 2962994	NM_001556.3(IKBKB):c.106-16T>C	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2957914	NM_001556.3(IKBKB):c.1839-7T>G	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2956940	NM_001556.3(IKBKB):c.1688+18G>T	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2955103	NM_001556.3(IKBKB):c.894C>G (p.Gly298=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2919144	NM_001556.3(IKBKB):c.1719A>G (p.Arg573=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2919111	NM_001556.3(IKBKB):c.1987-14A>G	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2916569	NM_001556.3(IKBKB):c.567+12G>A	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2913823	NM_001556.3(IKBKB):c.767C>T (p.Ser256Leu)	IKBKB (S197L +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 2911979	NM_001556.3(IKBKB):c.1126-12G>C	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2911405	NM_001556.3(IKBKB):c.389-11del	IKBKB	Deletion (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GBenign
Select item 2910824	NM_001556.3(IKBKB):c.200+12G>C	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2908527	NM_001556.3(IKBKB):c.72G>C (p.Gly24=)	IKBKB	Single nucleotide variant (5 prime UTR variant +3 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2907669	NM_001556.3(IKBKB):c.2155C>T (p.Leu719=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2905446	NM_001556.3(IKBKB):c.1086C>A (p.Ile362=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2902896	NM_001556.3(IKBKB):c.690G>A (p.Gln230=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2901792	NM_001556.3(IKBKB):c.2139T>C (p.His713=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GBenign
Select item 2896995	NM_001556.3(IKBKB):c.1689-15C>A	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2896847	NM_001556.3(IKBKB):c.972C>T (p.Thr324=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2889907	NM_001556.3(IKBKB):c.1867C>T (p.Leu623=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2889108	NM_001556.3(IKBKB):c.2115-16T>C	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2886387	NM_001556.3(IKBKB):c.1839-11A>G	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2884924	NM_001556.3(IKBKB):c.1830G>A (p.Thr610=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2884226	NM_001556.3(IKBKB):c.1098T>C (p.Pro366=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2882776	NM_001556.3(IKBKB):c.931-19C>A	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2882401	NM_001556.3(IKBKB):c.1986+8_1986+11del	IKBKB	Microsatellite (splice donor variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2882380	NM_001556.3(IKBKB):c.1364+13G>C	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2881771	NM_001556.3(IKBKB):c.1688+8C>T	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2881769	NM_001556.3(IKBKB):c.389-15C>G	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2880429	NM_001556.3(IKBKB):c.2114+18G>C	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2880364	NM_001556.3(IKBKB):c.1503C>G (p.Thr501=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2880149	NM_001556.3(IKBKB):c.699A>G (p.Ser233=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2878870	NM_001556.3(IKBKB):c.568-16C>T	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2878603	NM_001556.3(IKBKB):c.201-7C>T	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2876467	NM_001556.3(IKBKB):c.1650C>T (p.Ser550=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2874876	NM_001556.3(IKBKB):c.567+10G>A	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2874376	NM_001556.3(IKBKB):c.212C>T (p.Pro71Leu)	IKBKB (P12L +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 2874027	NM_001556.3(IKBKB):c.2114+16C>T	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2872051	NM_001556.3(IKBKB):c.1923G>A (p.Lys641=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2869646	NM_001556.3(IKBKB):c.692+11C>G	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2866282	NM_001556.3(IKBKB):c.436C>T (p.Leu146=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2866091	NM_001556.3(IKBKB):c.648C>T (p.Ile216=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2866087	NM_001556.3(IKBKB):c.2052T>G (p.Pro684=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2865213	NM_001556.3(IKBKB):c.954C>A (p.Val318=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2865071	NM_001556.3(IKBKB):c.2151C>G (p.Thr717=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2864840	NM_001556.3(IKBKB):c.2190A>G (p.Gln730=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2864404	NM_001556.3(IKBKB):c.477+18A>C	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2863991	NM_001556.3(IKBKB):c.2114+19T>A	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2862333	NM_001556.3(IKBKB):c.514G>A (p.Glu172Lys)	IKBKB (E108K +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 2860123	NM_001556.3(IKBKB):c.1503C>A (p.Thr501=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2859232	NM_001556.3(IKBKB):c.2235A>G (p.Glu745=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2858323	NM_001556.3(IKBKB):c.894C>T (p.Gly298=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2858035	NM_001556.3(IKBKB):c.1517-11T>A	IKBKB	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign
Select item 2856078	NM_001556.3(IKBKB):c.1599G>T (p.Leu533=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Severe combined immunodeficiency due to IKK2 deficiency	GLikely benign

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