ClinVar for MedGen (Select 444051) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 2359

<< First< Prev

Page of 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236733	CIITA, 1-BP DEL, 929A	CIITA	Deletion	MHC class II deficiency	GPathogenic
Select item 3065776	NM_000538.4(RFXAP):c.287C>A (p.Ser96Ter)	RFXAP (S96*)	Single nucleotide variant (nonsense)	MHC class II deficiency	GLikely pathogenic
Select item 3022717	NM_001025603.2(RFX5):c.1697G>A (p.Ser566Asn)	RFX5 (S526N +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	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	CIITA, LOC130058443	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 3013107	NM_001025603.2(RFX5):c.150+15G>A	RFX5	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 3011261	NM_003721.4(RFXANK):c.272-20C>G	RFXANK	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 3010700	NM_001025603.2(RFX5):c.69G>A (p.Glu23=)	RFX5	Single nucleotide variant (synonymous 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 2996615	NM_000538.4(RFXAP):c.732A>G (p.Val244=)	RFXAP	Single nucleotide variant (synonymous variant)	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 2995578	NM_001025603.2(RFX5):c.1499G>A (p.Trp500Ter)	RFX5 (W460* +1 more)	Single nucleotide variant (nonsense)	MHC class II deficiency	GPathogenic
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 2989323	NM_003721.4(RFXANK):c.338-12T>C	RFXANK	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2989016	NM_001025603.2(RFX5):c.844G>C (p.Glu282Gln)	RFX5 (E242Q +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
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 2987435	NM_003721.4(RFXANK):c.117C>T (p.Val39=)	RFXANK	Single nucleotide variant (synonymous variant)	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 2982575	NM_000538.4(RFXAP):c.471C>G (p.Arg157=)	LOC130009575, RFXAP	Single nucleotide variant (synonymous 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 2981568	NM_001025603.2(RFX5):c.1408C>T (p.Arg470Ter)	RFX5 (R430* +1 more)	Single nucleotide variant (nonsense)	MHC class II deficiency	GPathogenic
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 2976887	NM_001025603.2(RFX5):c.612G>C (p.Ala204=)	RFX5	Single nucleotide variant (synonymous 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 2975475	NM_001025603.2(RFX5):c.592G>A (p.Asp198Asn)	RFX5 (D198N +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
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 2974397	NM_001025603.2(RFX5):c.1754T>G (p.Val585Gly)	RFX5 (V545G +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
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 2971867	NM_001025603.2(RFX5):c.556-17G>A	RFX5	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2971547	NM_001025603.2(RFX5):c.858+9G>A	RFX5	Single nucleotide variant (intron variant)	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 2961378	NM_001025603.2(RFX5):c.1104T>C (p.Ser368=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
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 2960597	NM_000538.4(RFXAP):c.600+18G>A	LOC130009575, RFXAP	Single nucleotide variant (intron variant)	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 2957809	NM_003721.4(RFXANK):c.338-15G>C	RFXANK	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 2918873	NM_176880.6(NR2C2AP):c.*281G>T	NR2C2AP, RFXANK	Single nucleotide variant (3 prime UTR variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2918728	NM_003721.4(RFXANK):c.188-10T>C	RFXANK	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2917272	NM_001025603.2(RFX5):c.150+13G>T	RFX5	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 2915886	NM_003721.4(RFXANK):c.628C>T (p.Leu210=)	RFXANK	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 2915885	NM_003721.4(RFXANK):c.51T>C (p.Pro17=)	RFXANK	Single nucleotide variant (synonymous 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 2912670	NM_000538.4(RFXAP):c.306C>T (p.Gly102=)	RFXAP	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 2912425	NM_003721.4(RFXANK):c.188-20G>A	RFXANK	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
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 2911310	NM_001025603.2(RFX5):c.234-6C>G	RFX5	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign

<< First< Prev

Page of 24