ClinVar for Gene (Select 4261) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362582	NM_000246.4(CIITA):c.1415_1421del (p.Leu472fs)	CIITA (L423fs +4 more)	Deletion (frameshift variant +1 more)	MHC class II deficiency 1	GLikely pathogenic
Select item 3271667	NM_014015.4(DEXI):c.106G>A (p.Val36Ile)	CIITA, DEXI (V36I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271666	NM_014015.4(DEXI):c.221C>T (p.Ser74Phe)	CIITA, DEXI (S74F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267362	NM_000246.4(CIITA):c.583C>T (p.Pro195Ser)	CIITA (P172S +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3267361	NM_000246.4(CIITA):c.1333T>C (p.Tyr445His)	CIITA (Y445H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3267360	NM_000246.4(CIITA):c.2009G>A (p.Arg670Lys)	CIITA (R671K +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3267359	NM_000246.4(CIITA):c.1151C>A (p.Thr384Asn)	CIITA (T335N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3267358	NM_000246.4(CIITA):c.930C>G (p.Asn310Lys)	CIITA (N261K +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3267357	NM_000246.4(CIITA):c.1796G>A (p.Arg599Gln)	CIITA (R550Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3267356	NM_000246.4(CIITA):c.694A>G (p.Thr232Ala)	CIITA (T183A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3243332	NC_000016.9:g.(?_10971188)_(11650586_?)del	CIITA, CLEC16A +8 more	Deletion	MHC class II deficiency	GPathogenic
Select item 3236733	NM_000246.4(CIITA):c.929del (p.Asn310fs)	CIITA (N261fs +4 more)	Deletion (frameshift variant +1 more)	MHC class II deficiency 1	GPathogenic
Select item 3233640	NM_000246.4(CIITA):c.1946C>G (p.Ala649Gly)	CIITA (A600G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220938	NM_000246.4(CIITA):c.2551G>C (p.Ala851Pro)	CIITA (A802P +4 more)	Single nucleotide variant (missense variant +1 more)	Hodgkin lymphoma, susceptibility to	GUncertain significance
Select item 3144998	NM_000246.4(CIITA):c.2515C>T (p.Arg839Cys)	CIITA (R840C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144997	NM_000246.4(CIITA):c.2489C>G (p.Pro830Arg)	CIITA (P782R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144996	NM_000246.4(CIITA):c.2330C>T (p.Ser777Leu)	CIITA (S729L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144995	NM_000246.4(CIITA):c.1711A>G (p.Met571Val)	CIITA (M548V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144994	NM_000246.4(CIITA):c.1471C>A (p.Pro491Thr)	CIITA (P491T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144993	NM_000246.4(CIITA):c.1455C>A (p.Ser485Arg)	CIITA (S462R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144992	NM_000246.4(CIITA):c.1315T>A (p.Cys439Ser)	CIITA (C390S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3061430	NM_000246.4(CIITA):c.2629G>C (p.Val877Leu)	CIITA (V828L +4 more)	Single nucleotide variant (missense variant +1 more)	CIITA-related disorder	GUncertain significance
Select item 3054949	NM_000246.4(CIITA):c.97G>A (p.Gly33Ser)	CIITA (G33S +1 more)	Single nucleotide variant (missense variant +1 more)	CIITA-related disorder	GUncertain significance
Select item 3022328	NM_000246.4(CIITA):c.1006+11C>G	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 3022093	NM_000246.4(CIITA):c.2961G>A (p.Gln987=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 3021787	NM_000246.4(CIITA):c.2901C>T (p.Val967=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 3021398	NM_000246.4(CIITA):c.3062+18G>A	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 3019342	NM_000246.4(CIITA):c.606G>C (p.Leu202=)	CIITA	Single nucleotide variant (synonymous variant +2 more)	MHC class II deficiency	GLikely benign
Select item 3018907	NM_000246.4(CIITA):c.2254G>C (p.Glu752Gln)	CIITA (E703Q +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 3018307	NM_000246.4(CIITA):c.1386C>T (p.Ala462=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 3017020	NM_000246.4(CIITA):c.2377C>T (p.Leu793=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 3016831	NM_000246.4(CIITA):c.52+11C>T	LOC130058443, CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 3016004	NM_000246.4(CIITA):c.773-15C>G	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 3015940	NM_000246.4(CIITA):c.199+20dup	CIITA	Duplication (intron variant)	MHC class II deficiency	GLikely benign
Select item 3015112	NM_000246.4(CIITA):c.3234-16G>A	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 3013397	NM_000246.4(CIITA):c.295+17G>T	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 3012905	NM_000246.4(CIITA):c.2484G>A (p.Glu828=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 3012343	NM_000246.4(CIITA):c.1685C>A (p.Ala562Asp)	CIITA (A513D +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 3011540	NM_000246.4(CIITA):c.2970-7C>A	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 3010866	NM_000246.4(CIITA):c.295+10C>T	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 3010602	NM_000246.4(CIITA):c.3318-7C>G	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 3007885	NM_000246.4(CIITA):c.2439C>G (p.Ala813=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 3006900	NM_000246.4(CIITA):c.1962C>A (p.Pro654=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 3006528	NM_000246.4(CIITA):c.1932G>A (p.Leu644=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 3005822	NM_000246.4(CIITA):c.3126C>T (p.Leu1042=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 3004089	NM_000246.4(CIITA):c.772+18C>T	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 3004014	NM_000246.4(CIITA):c.483T>C (p.Ala161=)	CIITA	Single nucleotide variant (synonymous variant +2 more)	MHC class II deficiency	GLikely benign
Select item 3003616	NM_000246.4(CIITA):c.321G>A (p.Gln107=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 3002265	NM_000246.4(CIITA):c.69C>T (p.Ala23=)	CIITA	Single nucleotide variant (synonymous variant +2 more)	MHC class II deficiency	GLikely benign
Select item 2999946	NM_000246.4(CIITA):c.1611G>A (p.Leu537=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2999666	NM_000246.4(CIITA):c.2657+17G>T	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2996944	NM_000246.4(CIITA):c.2565G>C (p.Ala855=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2996534	NM_000246.4(CIITA):c.481+7A>C	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2995482	NM_000246.4(CIITA):c.482-18_482-17del	CIITA	Microsatellite (intron variant)	MHC class II deficiency	GLikely benign
Select item 2995445	NM_000246.4(CIITA):c.2296C>T (p.Pro766Ser)	CIITA (P718S +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 2995201	NM_000246.4(CIITA):c.1674C>T (p.Ser558=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2994523	NM_000246.4(CIITA):c.1272G>A (p.Gln424=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2992677	NM_000246.4(CIITA):c.53-16T>C	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2991597	NM_000246.4(CIITA):c.3150-14T>C	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2990066	NM_000246.4(CIITA):c.200-20C>T	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2988578	NM_000246.4(CIITA):c.1188C>T (p.Gly396=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2988281	NM_000246.4(CIITA):c.436+17C>T	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2988194	NM_000246.4(CIITA):c.2109G>A (p.Glu703=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2986883	NM_000246.4(CIITA):c.1080A>G (p.Leu360=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2984678	NM_000246.4(CIITA):c.2697G>C (p.Leu899=)	CIITA	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 2984346	NM_000246.4(CIITA):c.628+13G>A	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2983832	NM_000246.4(CIITA):c.436+14T>C	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2982429	NM_000246.4(CIITA):c.2888+16G>C	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2980621	NM_000246.4(CIITA):c.1650G>A (p.Arg550=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2980071	NM_000246.4(CIITA):c.295+14T>C	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2978783	NM_000246.4(CIITA):c.358+20G>A	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2978370	NM_000246.4(CIITA):c.2816+10G>A	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2976110	NM_000246.4(CIITA):c.3288T>G (p.Leu1096=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2974713	NM_000246.4(CIITA):c.773-17C>G	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2972481	NM_000246.4(CIITA):c.1902C>T (p.Pro634=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2971366	NM_000246.4(CIITA):c.1110G>A (p.Leu370=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2968128	NM_000246.4(CIITA):c.772+13C>A	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2967307	NM_000246.4(CIITA):c.2863C>A (p.Arg955=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2961850	NM_000246.4(CIITA):c.2444del (p.Glu815fs)	CIITA (E767fs +4 more)	Deletion (frameshift variant +1 more)	MHC class II deficiency	GPathogenic
Select item 2960792	NM_000246.4(CIITA):c.463C>T (p.Leu155=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2959424	NM_000246.4(CIITA):c.3062+13G>A	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2957733	NM_000246.4(CIITA):c.2817-12T>C	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2920573	NM_000246.4(CIITA):c.200-1G>C	CIITA	Single nucleotide variant (splice acceptor variant)	MHC class II deficiency	GLikely pathogenic
Select item 2920536	NM_000246.4(CIITA):c.2888+20G>A	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2919996	NM_000246.4(CIITA):c.482-12A>T	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2919662	NM_000246.4(CIITA):c.2888+13G>T	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2919658	NM_000246.4(CIITA):c.295+12C>A	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2917221	NM_000246.4(CIITA):c.2817-15G>T	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2916416	NM_000246.4(CIITA):c.2657+20G>A	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2915832	NM_000246.4(CIITA):c.773-17C>T	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2914428	NM_000246.4(CIITA):c.570G>C (p.Leu190=)	CIITA	Single nucleotide variant (synonymous variant +2 more)	MHC class II deficiency	GLikely benign
Select item 2914409	NM_000246.4(CIITA):c.2931G>A (p.Val977=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2913961	NM_000246.4(CIITA):c.2035C>A (p.Gln679Lys)	CIITA (Q630K +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 2912093	NM_000246.4(CIITA):c.2229G>A (p.Lys743=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2910861	NM_000246.4(CIITA):c.3062+20C>T	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2910400	NM_000246.4(CIITA):c.2436C>A (p.Cys812Ter)	CIITA (C764* +4 more)	Single nucleotide variant (nonsense +1 more)	MHC class II deficiency	GPathogenic
Select item 2909956	NM_000246.4(CIITA):c.2556G>A (p.Leu852=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2909179	NM_000246.4(CIITA):c.3233+20C>T	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2909156	NM_000246.4(CIITA):c.2130C>T (p.Ser710=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2909052	NM_000246.4(CIITA):c.3126C>A (p.Leu1042=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign

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