ClinVar for MedGen (Select 231300) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 562

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370437	NM_000043.6(FAS):c.748C>G (p.Arg250Gly)	FAS (R229G +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely pathogenic
Select item 3367065	NM_005546.4(ITK):c.1449+4T>C	ITK	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 3256547	NM_000043.6(FAS):c.713G>T (p.Gly238Val)	FAS (G217V +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely pathogenic
Select item 3244832	NC_000010.10:g.(?_90332640)_(91222335_?)dup	LIPM, LIPN +17 more	Duplication	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 3244831	NC_000010.10:g.(?_90762766)_(90762971_?)del	FAS	Deletion	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 3064842	NM_000043.6(FAS):c.670_676del (p.Leu224fs)	FAS (F196fs +3 more)	Deletion (frameshift variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 3024517	NM_000043.6(FAS):c.693dup (p.Tyr232fs)	FAS (Y211fs +2 more)	Duplication (frameshift variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely pathogenic
Select item 3019723	NM_000639.3(FASLG):c.213G>A (p.Leu71=)	FASLG	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 3017940	NM_000043.6(FAS):c.900A>C (p.Lys300Asn)	FAS (K315N +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 3017042	NM_000043.6(FAS):c.155_169dup (p.Gly56_Gln57insLeuHisHisAspGly)	FAS	Duplication (inframe_insertion +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 3015135	NM_000639.3(FASLG):c.135A>G (p.Pro45=)	FASLG	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 3013406	NM_000043.6(FAS):c.554C>T (p.Pro185Leu)	FAS (P185L +1 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 3013405	NM_000043.6(FAS):c.32T>C (p.Val11Ala)	FAS (V11A +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 3003503	NM_000639.3(FASLG):c.473T>C (p.Met158Thr)	FASLG (M158T)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2996098	NM_000043.6(FAS):c.444-12T>C	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2994360	NM_000043.6(FAS):c.505+16C>A	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2991381	NM_000043.6(FAS):c.230G>A (p.Gly77Glu)	FAS (G77E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2986904	NM_000639.3(FASLG):c.351T>G (p.Ser117=)	FASLG	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2983914	NM_000043.6(FAS):c.66T>C (p.Ser22=)	FAS	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2980170	NM_000043.6(FAS):c.910T>C (p.Cys304Arg)	FAS (C319R +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2978556	NM_000639.3(FASLG):c.210C>T (p.Pro70=)	FASLG	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2977588	NM_000043.6(FAS):c.279C>A (p.Asp93Glu)	FAS (D93E +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2966941	NM_000043.6(FAS):c.913A>G (p.Thr305Ala)	FAS (T284A +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2961796	NM_000043.6(FAS):c.869C>T (p.Ala290Val)	FAS (A269V +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2959350	NM_000043.6(FAS):c.775del (p.Lys258_Ile259insTer)	FAS	Deletion (nonsense +2 more)	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 2959237	NM_000043.6(FAS):c.204G>T (p.Arg68Ser)	FAS (R83S +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2955291	NM_000043.6(FAS):c.963C>G (p.Asp321Glu)	FAS (D321E +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2919915	NM_000043.6(FAS):c.334+11T>C	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2909154	NM_000043.6(FAS):c.443+20T>C	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2903576	NM_000639.3(FASLG):c.200C>A (p.Pro67Gln)	FASLG (P67Q)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2902328	NM_000639.3(FASLG):c.394+16C>A	FASLG	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2901707	NM_000043.6(FAS):c.340G>A (p.Glu114Lys)	FAS (E114K +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2900322	NM_000043.6(FAS):c.677-9A>G	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2898173	NM_000043.6(FAS):c.575G>A (p.Arg192Lys)	FAS (R171K +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2894292	NM_000639.3(FASLG):c.348+9G>A	FASLG	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2893656	NM_000639.3(FASLG):c.348+14C>T	FASLG	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2892198	NM_000043.6(FAS):c.477C>G (p.Leu159=)	FAS	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2882532	NM_000043.6(FAS):c.768A>G (p.Glu256=)	FAS	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2879692	NM_000043.6(FAS):c.226A>C (p.Asn76His)	FAS (N76H +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2877238	NM_000043.6(FAS):c.505+14T>C	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2863737	NM_000043.6(FAS):c.652G>A (p.Glu218Lys)	FAS (G190E +3 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2851870	NM_000043.6(FAS):c.196+5G>T	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2847126	NM_000639.3(FASLG):c.702T>C (p.Thr234=)	FASLG	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2845202	NM_000043.6(FAS):c.415G>A (p.Val139Ile)	FAS (V154I +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2839579	NM_000043.6(FAS):c.443+15T>G	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2836853	NM_000043.6(FAS):c.136A>C (p.Thr46Pro)	FAS (T46P +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2836781	NM_000043.6(FAS):c.30+14_30+18dup	ACTA2, FAS	Duplication (5 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2835065	NM_000043.6(FAS):c.386G>A (p.Cys129Tyr)	FAS (C129Y +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2834320	NM_000043.6(FAS):c.753G>A (p.Lys251=)	FAS	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2834260	NM_000639.3(FASLG):c.452-13G>A	FASLG	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2823867	NM_000043.6(FAS):c.473C>T (p.Thr158Ile)	FAS (T173I +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2816394	NM_000043.6(FAS):c.418T>G (p.Cys140Gly)	FAS (C140G +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2814684	NM_000043.6(FAS):c.396C>T (p.Asn132=)	FAS	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2813931	NM_000043.6(FAS):c.862A>G (p.Lys288Glu)	FAS (K288E +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2811621	NM_000043.6(FAS):c.187T>C (p.Cys63Arg)	FAS (C78R +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2807694	NM_000043.6(FAS):c.489C>A (p.Thr163=)	FAS	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2807693	NM_000043.6(FAS):c.476_489del (p.Leu159fs)	FAS (L159fs +1 more)	Deletion (frameshift variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 2802944	NM_000043.6(FAS):c.490A>G (p.Lys164Glu)	FAS (K164E +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2801252	NM_000043.6(FAS):c.874G>C (p.Asp292His)	FAS (D271H +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2795580	NM_000043.6(FAS):c.335-4C>G	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2789216	NM_000639.3(FASLG):c.639G>A (p.Met213Ile)	FASLG (M213I)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2787069	NM_000043.6(FAS):c.56C>T (p.Ser19Leu)	FAS (S19L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2782671	NM_000043.6(FAS):c.430G>T (p.Asp144Tyr)	FAS (D144Y +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2780308	NM_000043.6(FAS):c.635C>T (p.Ser212Phe)	FAS (S227F +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2779353	NM_000043.6(FAS):c.412A>G (p.Thr138Ala)	FAS (T138A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2776997	NM_000639.3(FASLG):c.348+11C>T	FASLG	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2765866	NM_000639.3(FASLG):c.44del (p.Val15fs)	FASLG (V15fs)	Deletion (frameshift variant)	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 2764356	NM_000043.6(FAS):c.820A>G (p.Lys274Glu)	FAS (K274E +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2762517	NM_000043.6(FAS):c.175T>A (p.Cys59Ser)	FAS (C74S +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2762162	NM_000639.3(FASLG):c.451+11G>A	FASLG	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2760464	NM_000043.6(FAS):c.833T>A (p.Leu278His)	FAS (L278H +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely pathogenic
Select item 2757908	NM_000639.3(FASLG):c.295C>T (p.Leu99=)	FASLG	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2754112	NM_000639.3(FASLG):c.344G>T (p.Arg115Leu)	FASLG (R115L)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2753226	NM_000043.6(FAS):c.841T>A (p.Trp281Arg)	FAS (W281R +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2747858	NM_000639.3(FASLG):c.349-13T>C	FASLG	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2747857	NM_000639.3(FASLG):c.349-16C>T	FASLG	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2741677	NM_000043.6(FAS):c.27T>C (p.Pro9=)	ACTA2, FAS	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2735450	NM_000043.6(FAS):c.722C>A (p.Thr241Lys)	FAS (T256K +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 2735449	NM_000043.6(FAS):c.538C>T (p.Leu180Phe)	FAS (L195F +1 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 2735447	NM_000043.6(FAS):c.341A>T (p.Glu114Val)	FAS (E114V +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely pathogenic
Select item 2733331	NM_000639.3(FASLG):c.822G>A (p.Thr274=)	FASLG	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2726249	NM_000639.3(FASLG):c.405T>C (p.Ser135=)	FASLG (V120A)	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2723129	NM_000043.6(FAS):c.67G>A (p.Val23Ile)	FAS (V23I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2722465	NM_000639.3(FASLG):c.780C>T (p.Asn260=)	FASLG	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2720331	NM_000639.3(FASLG):c.720C>T (p.Ala240=)	FASLG	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2715868	NM_000639.3(FASLG):c.410C>T (p.Pro137Leu)	FASLG (P122S +1 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2713078	NM_000639.3(FASLG):c.451+12G>A	FASLG	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2710063	NM_000043.6(FAS):c.397T>C (p.Phe133Leu)	FAS (F148L +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2708956	NM_000043.6(FAS):c.310T>C (p.Cys104Arg)	FAS (C104R +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2698574	NM_000043.6(FAS):c.115A>T (p.Lys39Ter)	FAS (K54* +1 more)	Single nucleotide variant (nonsense +1 more)	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 2695638	NM_000639.3(FASLG):c.708G>A (p.Gly236=)	FASLG	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2693013	NM_000043.6(FAS):c.335-13A>T	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2682302	NM_000639.3(FASLG):c.540C>T (p.Gly180=)	FASLG	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2580985	NM_000043.6(FAS):c.526T>C (p.Trp176Arg)	FAS (W176R +1 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2468619	NM_000639.3(FASLG):c.91C>T (p.Pro31Ser)	FASLG (P31S)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1 +1 more	GUncertain significance
Select item 2441358	NM_000639.3(FASLG):c.576_587del (p.Ser193_Tyr196del)	FASLG	Deletion (inframe_deletion +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2441357	NM_000043.6(FAS):c.466G>A (p.Glu156Lys)	FAS (E156K +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2441356	NM_000043.6(FAS):c.245G>A (p.Cys82Tyr)	FAS (C82Y +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2422187	NC_000010.10:g.(?_90767437)_(90770592_?)del	FAS	Deletion	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 2414133	NM_000043.6(FAS):c.145T>C (p.Leu49=)	FAS	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign

<< First< Prev

Page of 6