ClinVar for Gene (Select 355) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244832	NC_000010.10:g.(?_90332640)_(91222335_?)dup	ACTA2, ANKRD22 +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 3063146	GRCh37/hg19 10q23.31-23.32(chr10:89950990-92959893)x3	ACTA2, ANKRD1 +24 more	Copy number gain	not specified	GUncertain significance
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
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 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 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 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 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 (3 prime UTR variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2977588	NM_000043.6(FAS):c.279C>A (p.Asp93Glu)	FAS (D93E +1 more)	Single nucleotide variant (non-coding transcript 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 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 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 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 (3 prime UTR variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
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 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)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2764356	NM_000043.6(FAS):c.820A>G (p.Lys274Glu)	FAS (K274E +2 more)	Single nucleotide variant (missense 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 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 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 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 2723129	NM_000043.6(FAS):c.67G>A (p.Val23Ile)	FAS (V23I +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1 +1 more	GUncertain significance
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 (non-coding transcript 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 2693013	NM_000043.6(FAS):c.335-13A>T	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2640668	NM_000043.6(FAS):c.153C>T (p.Gly51=)	FAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2632730	NM_000043.6(FAS):c.923A>G (p.Glu308Gly)	FAS (E287G +2 more)	Single nucleotide variant (missense variant +2 more)	FAS-related disorder	GUncertain significance
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 2575948	NM_000043.6(FAS):c.731A>T (p.Gln244Leu)	FAS (Q223L +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely pathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2573797	NM_000043.6(FAS):c.794A>G (p.Asp265Gly)	FAS (D244G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 2570772	NM_000043.6(FAS):c.506-3C>G	FAS	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2557685	NM_000043.6(FAS):c.449A>G (p.Glu150Gly)	FAS (E150G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2498466	NM_000043.6(FAS):c.98A>C (p.Lys33Thr)	FAS (K33T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2424208	NC_000010.10:g.(?_90697798)_(90767614_?)dup	FAS-AS1, ACTA2 +1 more	Duplication	Aortic aneurysm, familial thoracic 6	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
Select item 2195501	NM_000043.6(FAS):c.15G>C (p.Trp5Cys)	ACTA2, FAS (W5C)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2194172	NM_000043.6(FAS):c.870G>A (p.Ala290=)	FAS	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2191585	NM_000043.6(FAS):c.836G>A (p.Arg279His)	FAS (R258H +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2187412	NM_000043.6(FAS):c.529C>T (p.Leu177Phe)	FAS (L177F +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2172165	NM_000043.6(FAS):c.249G>A (p.Val83=)	FAS	Single nucleotide variant (non-coding transcript variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2170488	NM_000043.6(FAS):c.796A>C (p.Asn266His)	FAS (N245H +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2169310	NM_000043.6(FAS):c.162T>C (p.His54=)	FAS	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2159363	NM_000043.6(FAS):c.196+17A>G	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2155954	NM_000043.6(FAS):c.103T>A (p.Leu35Met)	FAS (L35M +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2147496	NM_000043.6(FAS):c.801C>T (p.Val267=)	FAS	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2136918	NM_000043.6(FAS):c.881del (p.Thr293_Leu294insTer)	FAS	Deletion (nonsense +3 more)	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 2136917	NM_000043.6(FAS):c.814G>A (p.Glu272Lys)	FAS (E251K +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 2136916	NM_000043.6(FAS):c.779A>G (p.Asp260Gly)	FAS (D260G +2 more)	Single nucleotide variant (missense variant +2 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely pathogenic
Select item 2136915	NM_000043.6(FAS):c.651+5G>T	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely pathogenic
Select item 2136914	NM_000043.6(FAS):c.506-1G>C	FAS	Single nucleotide variant (splice acceptor variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 2136913	NM_000043.6(FAS):c.404G>A (p.Cys135Tyr)	FAS (C150Y +1 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely pathogenic
Select item 2136912	NM_000043.6(FAS):c.335-2A>G	FAS	Single nucleotide variant (splice acceptor variant)	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 2130948	NM_000043.6(FAS):c.676+1G>C	FAS	Single nucleotide variant (splice donor variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 2127250	NM_000043.6(FAS):c.677-16A>G	FAS	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign

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