ClinVar for Gene (Select 4791) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3903402	NM_001322934.2(NFKB2):c.569T>C (p.Val190Ala)	NFKB2 (V190A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3901188	NM_001322934.2(NFKB2):c.103+6C>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3898042	NM_001322934.2(NFKB2):c.2596dup (p.Ser866fs)	NFKB2 (S824fs +2 more)	Duplication (frameshift variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3879307	NM_001322934.2(NFKB2):c.1226C>G (p.Ala409Gly)	LOC130004599, NFKB2 (A409G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3781202	NM_001322934.2(NFKB2):c.521T>C (p.Leu174Pro)	NFKB2 (L174P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3765600	NM_001322934.2(NFKB2):c.529G>C (p.Glu177Gln)	NFKB2 (E177Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3729857	NM_001322934.2(NFKB2):c.65C>T (p.Ser22Phe)	NFKB2, LOC130004598 (S22F)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3728588	NM_001322934.2(NFKB2):c.1058G>A (p.Gly353Asp)	NFKB2 (G353D)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3727627	NM_001322934.2(NFKB2):c.886A>G (p.Lys296Glu)	NFKB2 (K296E)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3726566	NM_001322934.2(NFKB2):c.951G>A (p.Val317=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3724115	NM_001322934.2(NFKB2):c.243+2T>G	NFKB2	Single nucleotide variant (splice donor variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3724112	NM_001322934.2(NFKB2):c.573G>A (p.Arg191=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3722698	NM_001322934.2(NFKB2):c.1261G>T (p.Ala421Ser)	LOC130004599, NFKB2 (A379S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3722442	NM_001322934.2(NFKB2):c.2294-7C>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3718724	NM_001322934.2(NFKB2):c.1203C>T (p.Gly401=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3716527	NM_001322934.2(NFKB2):c.1199G>C (p.Gly400Ala)	LOC130004599, NFKB2 (G358A +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3713721	NM_001322934.2(NFKB2):c.1544A>C (p.Gln515Pro)	NFKB2 (Q515P +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3711269	NM_001322934.2(NFKB2):c.2294-8C>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3710757	NM_001322934.2(NFKB2):c.405C>T (p.Asn135=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3709273	NM_001322934.2(NFKB2):c.1293G>A (p.Gln431=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3708869	NM_001322934.2(NFKB2):c.1328-8G>A	LOC130004599, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3708326	NM_001322934.2(NFKB2):c.502+6G>C	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3707633	NM_001322934.2(NFKB2):c.2534G>A (p.Arg845Lys)	NFKB2 (R845K +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3707516	NM_001322934.2(NFKB2):c.104-5C>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3703867	NM_001322934.2(NFKB2):c.22-19C>T	LOC130004598, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3702796	NM_001322934.2(NFKB2):c.1233G>C (p.Val411=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3702338	NM_001322934.2(NFKB2):c.1416G>A (p.Ala472=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3695985	NM_001322934.2(NFKB2):c.2028T>C (p.Ala676=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3693744	NM_001322934.2(NFKB2):c.2578+10C>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3692850	NM_001322934.2(NFKB2):c.100A>G (p.Thr34Ala)	NFKB2 (T34A)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3691579	NM_001322934.2(NFKB2):c.1507G>A (p.Val503Ile)	NFKB2 (V503I +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3687003	NM_001322934.2(NFKB2):c.2652del (p.Glu885fs)	NFKB2 (E884fs +2 more)	Deletion (frameshift variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3685145	NM_001322934.2(NFKB2):c.1117+8G>C	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3684441	NM_001322934.2(NFKB2):c.145-19del	NFKB2	Deletion (intron variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3684008	NM_001322934.2(NFKB2):c.2016G>A (p.Leu672=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3683788	NM_001322934.2(NFKB2):c.2607G>A (p.Gly869=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3683388	NM_001322934.2(NFKB2):c.26T>G (p.Leu9Arg)	LOC130004598, NFKB2 (L9R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3682677	NM_001322934.2(NFKB2):c.993C>A (p.Asp331Glu)	NFKB2 (D331E)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3682447	NM_001322934.2(NFKB2):c.2402G>A (p.Arg801His)	NFKB2 (R801H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3682324	NM_001322934.2(NFKB2):c.1118-17C>A	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3681422	NM_001322934.2(NFKB2):c.2536C>T (p.Leu846=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3680346	NM_001322934.2(NFKB2):c.1038C>T (p.Phe346=)	NFKB2	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3679080	NM_001322934.2(NFKB2):c.1717G>A (p.Gly573Ser)	NFKB2 (G531S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3677032	NM_001322934.2(NFKB2):c.727G>A (p.Gly243Arg)	LOC121815964, NFKB2 (G243R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3676302	NM_001322934.2(NFKB2):c.395+16G>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3676256	NM_001322934.2(NFKB2):c.1504A>G (p.Ser502Gly)	NFKB2 (S460G +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3675852	NM_001322934.2(NFKB2):c.2231C>A (p.Thr744Asn)	NFKB2 (T702N +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3675345	NM_001322934.2(NFKB2):c.2622G>A (p.Glu874=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3675086	NM_001322934.2(NFKB2):c.1191C>T (p.Cys397=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3673984	NM_001322934.2(NFKB2):c.1708G>A (p.Ala570Thr)	NFKB2 (A528T +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3672564	NM_001322934.2(NFKB2):c.939A>T (p.Arg313=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3671851	NM_001322934.2(NFKB2):c.1867G>A (p.Gly623Arg)	NFKB2 (G581R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3669586	NM_001322934.2(NFKB2):c.448A>G (p.Met150Val)	NFKB2 (M150V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3662167	NM_001322934.2(NFKB2):c.2657C>T (p.Pro886Leu)	NFKB2 (P844L +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3659982	NM_001322934.2(NFKB2):c.2116C>A (p.Pro706Thr)	NFKB2 (P706T +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3657200	NM_001322934.2(NFKB2):c.852+13_852+18dup	NFKB2	Duplication (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3656993	NM_001322934.2(NFKB2):c.2453T>C (p.Leu818Pro)	NFKB2 (L776P +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3654847	NM_001322934.2(NFKB2):c.853-3dup	NFKB2	Duplication (intron variant)	Immunodeficiency, common variable, 10	GBenign
Select item 3654427	NM_001322934.2(NFKB2):c.370G>A (p.Val124Met)	NFKB2 (V124M)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3654195	NM_001322934.2(NFKB2):c.1584+6G>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3652788	NM_001322934.2(NFKB2):c.414C>T (p.Val138=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3652695	NM_001322934.2(NFKB2):c.2499G>A (p.Glu833=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3649494	NM_001322934.2(NFKB2):c.1290C>T (p.Pro430=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3649403	NM_001322934.2(NFKB2):c.2590G>A (p.Glu864Lys)	NFKB2 (E822K +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3648053	NM_001322934.2(NFKB2):c.853-13C>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3647452	NM_001322934.2(NFKB2):c.2596A>T (p.Ser866Cys)	NFKB2 (S865C +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3646626	NM_001322934.2(NFKB2):c.2702G>C (p.Ter901Ser)	NFKB2	Single nucleotide variant (stop lost)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3646028	NM_001322934.2(NFKB2):c.2081T>G (p.Ile694Ser)	NFKB2 (I694S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3645531	NM_001322934.2(NFKB2):c.2515G>A (p.Gly839Ser)	NFKB2 (G797S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3644668	NM_001322934.2(NFKB2):c.2488G>A (p.Gly830Ser)	NFKB2 (G788S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3642818	NM_001322934.2(NFKB2):c.766+12G>T	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3641581	NM_001322934.2(NFKB2):c.804T>C (p.Asn268=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3633448	NM_001322934.2(NFKB2):c.503-10T>C	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3632592	NM_001322934.2(NFKB2):c.2559A>G (p.Arg853=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3632139	NM_001322934.2(NFKB2):c.1328-14T>G	LOC130004599, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3630536	NM_001322934.2(NFKB2):c.1968+11G>A	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3629438	NM_001322934.2(NFKB2):c.72T>C (p.Ile24=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3627291	NM_001322934.2(NFKB2):c.2422C>G (p.Arg808Gly)	NFKB2 (R766G +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3625075	NM_001322934.2(NFKB2):c.1798+21_1798+24del	NFKB2	Deletion (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3624004	NM_001322934.2(NFKB2):c.438G>C (p.Met146Ile)	NFKB2 (M146I)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3623226	NM_001322934.2(NFKB2):c.103+9G>A	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3623045	NM_001322934.2(NFKB2):c.767-20A>C	NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3621947	NM_001322934.2(NFKB2):c.1805A>G (p.Tyr602Cys)	NFKB2 (Y560C +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3615972	NM_001322934.2(NFKB2):c.2659C>T (p.Pro887Ser)	NFKB2 (P845S +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3609175	NM_001322934.2(NFKB2):c.948C>T (p.Asp316=)	NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3607308	NM_001322934.2(NFKB2):c.1328-4G>A	LOC130004599, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 3606355	NM_001322934.2(NFKB2):c.1718G>A (p.Gly573Asp)	NFKB2 (G531D +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 3405218	NM_001322934.2(NFKB2):c.8G>C (p.Ser3Thr)	NFKB2 (S3T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3405217	NM_001322934.2(NFKB2):c.16A>G (p.Asn6Asp)	NFKB2 (N6D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3390295	NM_001322934.2(NFKB2):c.2072-1G>A	NFKB2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3372570	NM_001322934.2(NFKB2):c.2402G>C (p.Arg801Pro)	NFKB2 (R759P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363340	NM_001322934.2(NFKB2):c.1586C>T (p.Thr529Met)	NFKB2 (T487M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360296	NM_001322934.2(NFKB2):c.1427_1447dup (p.Thr482_Ala483insGlyGlnArgHisLeuLeuThr)	NFKB2	Duplication	not provided	GUncertain significance
Select item 3342255	Single allele	ACTR1A, ARL3 +35 more	Deletion	See cases	GPathogenic
Select item 3340687	NM_001322934.2(NFKB2):c.1416_1417del (p.Leu473fs)	NFKB2 (L431fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 3299534	NM_001322934.2(NFKB2):c.1828G>T (p.Ala610Ser)	NFKB2 (A568S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256505	NM_001322934.2(NFKB2):c.1129G>C (p.Gly377Arg)	LOC130004599, NFKB2 (G335R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3253518	NM_001322934.2(NFKB2):c.1346G>T (p.Arg449Leu)	LOC130004599, NFKB2 (R407L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10 +1 more	GUncertain significance
Select item 3252868	NM_001322934.2(NFKB2):c.1739C>G (p.Ala580Gly)	NFKB2 (A538G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3197860	NM_001322934.2(NFKB2):c.944G>A (p.Gly315Glu)	NFKB2 (G315E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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