ClinVar for Gene (Select 3551) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358813	NM_001556.3(IKBKB):c.755C>T (p.Thr252Met)	IKBKB (T188M +2 more)	Single nucleotide variant (missense variant +1 more)	IKBKB-related disorder	GUncertain significance
Select item 3285705	NM_001556.3(IKBKB):c.1895T>C (p.Val632Ala)	IKBKB (V632A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3285704	NM_001556.3(IKBKB):c.287T>C (p.Met96Thr)	IKBKB (M96T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3245574	NC_000008.10:g.(?_42129619)_(42329908_?)del	DKK4, IKBKB +3 more	Deletion	not provided	GPathogenic
Select item 3245546	NC_000008.10:g.(?_41518984)_(42329908_?)dup	ANK1, AP3M2 +7 more	Duplication	not provided	GUncertain significance
Select item 3245544	NC_000008.10:g.(?_41518984)_(43054712_?)del	ANK1, AP3M2 +16 more	Deletion	not provided	GPathogenic
Select item 3245532	NC_000008.10:g.(?_42146132)_(42146266_?)del	IKBKB	Deletion	Severe combined immunodeficiency due to IKK2 deficiency	GPathogenic
Select item 3109006	NM_001556.3(IKBKB):c.801T>C (p.Ser267=)	IKBKB	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3109005	NM_001556.3(IKBKB):c.395C>T (p.Ala132Val)	IKBKB (A73V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3109004	NM_001556.3(IKBKB):c.217G>A (p.Val73Met)	IKBKB (V9M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3109002	NM_001556.3(IKBKB):c.2158G>A (p.Glu720Lys)	IKBKB (E720K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3109001	NM_001556.3(IKBKB):c.1903T>G (p.Leu635Val)	IKBKB (L635V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063032	GRCh37/hg19 8p11.23-11.1(chr8:37972810-43837099)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063030	GRCh37/hg19 8p11.23-11.1(chr8:37988714-43780050)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3047209	NM_001556.3(IKBKB):c.-40T>A	IKBKB, LOC130000299	Single nucleotide variant (5 prime UTR variant +1 more)	IKBKB-related disorder	GLikely benign
Select item 3042121	NM_001556.3(IKBKB):c.-40T>C	IKBKB, LOC130000299	Single nucleotide variant (5 prime UTR variant +1 more)	IKBKB-related disorder	GBenign
Select item 3039508	NM_001556.3(IKBKB):c.-58C>G	IKBKB, LOC130000299	Single nucleotide variant (5 prime UTR variant +1 more)	IKBKB-related disorder	GLikely benign
Select item 3039446	NM_001556.3(IKBKB):c.-107G>C	IKBKB, LOC130000299	Single nucleotide variant (5 prime UTR variant +1 more)	IKBKB-related disorder	GLikely benign
Select item 3037325	NM_001556.3(IKBKB):c.-19+8C>T	IKBKB, LOC130000299	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3030446	NM_001556.3(IKBKB):c.-24C>G	IKBKB, LOC130000299	Single nucleotide variant (5 prime UTR variant +1 more)	IKBKB-related disorder	GUncertain significance
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 (synonymous 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 (missense 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 (synonymous 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

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