ClinVar for Gene (Select 356) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 225

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3092927	NM_000639.3(FASLG):c.31C>G (p.Gln11Glu)	FASLG (Q11E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3058845	NM_000639.3(FASLG):c.422A>G (p.Lys141Arg)	FASLG (K141R +1 more)	Single nucleotide variant (missense variant)	FASLG-related disorder	GUncertain significance
Select item 3043328	NM_000639.3(FASLG):c.645C>T (p.Asn215=)	FASLG	Single nucleotide variant (synonymous variant +1 more)	FASLG-related disorder	GLikely benign
Select item 3030472	NM_000639.3(FASLG):c.141_167del (p.48PPPPPPLPP[1])	FASLG	Deletion (inframe deletion)	FASLG-related disorder	GUncertain significance
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 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 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 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 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 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 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 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 2834260	NM_000639.3(FASLG):c.452-13G>A	FASLG	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 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 2762162	NM_000639.3(FASLG):c.451+11G>A	FASLG	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
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 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 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 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 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 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 2682302	NM_000639.3(FASLG):c.540C>T (p.Gly180=)	FASLG	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 2598915	NM_000639.3(FASLG):c.562C>A (p.Leu188Met)	FASLG (L188M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2575930	NM_000639.3(FASLG):c.220A>G (p.Arg74Gly)	FASLG (R74G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2541137	NM_000639.3(FASLG):c.236C>A (p.Thr79Lys)	FASLG (T79K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540176	NM_000639.3(FASLG):c.163C>T (p.Pro55Ser)	FASLG (P55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468619	NM_000639.3(FASLG):c.91C>T (p.Pro31Ser)	FASLG (P31S)	Single nucleotide variant (missense variant)	not specified +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 2198163	NM_000639.3(FASLG):c.241C>T (p.Leu81=)	FASLG	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2184615	NM_000639.3(FASLG):c.135ACC[2] (p.Pro52_Pro53del)	FASLG	Microsatellite (inframe_deletion)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2176368	NM_000639.3(FASLG):c.221G>A (p.Arg74Lys)	FASLG (R74K)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2168108	NM_000639.3(FASLG):c.452-11A>T	FASLG	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2153422	NM_000639.3(FASLG):c.415G>A (p.Glu139Lys)	FASLG (E139K)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2147290	NM_000639.3(FASLG):c.368C>T (p.Thr123Ile)	FASLG (T123I)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2134517	NM_000639.3(FASLG):c.452G>A (p.Gly151Asp)	FASLG (G151D)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2127762	NM_000639.3(FASLG):c.637A>G (p.Met213Val)	FASLG (M213V)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2122562	NM_000639.3(FASLG):c.228C>G (p.Asn76Lys)	FASLG (N76K)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2110131	NM_000639.3(FASLG):c.453C>A (p.Gly151=)	FASLG	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2100715	NM_000639.3(FASLG):c.796C>G (p.Leu266Val)	FASLG (L266V)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2097652	NM_000639.3(FASLG):c.802A>T (p.Asn268Tyr)	FASLG (N268Y)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2092369	NM_000639.3(FASLG):c.592C>T (p.Arg198Trp)	FASLG (R198W)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2081173	NM_000639.3(FASLG):c.395-13C>G	FASLG	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2067704	NM_000639.3(FASLG):c.498T>C (p.Tyr166=)	FASLG	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2042207	NM_000639.3(FASLG):c.146C>T (p.Pro49Leu)	FASLG (P49L)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2033752	NM_000639.3(FASLG):c.394+17A>C	FASLG	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2019389	NM_000639.3(FASLG):c.174G>C (p.Pro58=)	FASLG	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2001705	NM_000639.3(FASLG):c.279C>T (p.Ala93=)	FASLG	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 1996351	NM_000639.3(FASLG):c.152C>A (p.Pro51Gln)	FASLG (P51Q)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1996327	NM_000639.3(FASLG):c.653A>G (p.Tyr218Cys)	FASLG (Y218C)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1987691	NM_000639.3(FASLG):c.312C>T (p.Leu104=)	FASLG	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 1985077	NM_000639.3(FASLG):c.631G>A (p.Val211Ile)	FASLG (V211I)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1984964	NM_000639.3(FASLG):c.321A>G (p.Leu107=)	FASLG	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 1984960	NM_000639.3(FASLG):c.411C>A (p.Pro137=)	FASLG (P122H)	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 1984410	NM_000639.3(FASLG):c.171GCC[5] (p.Pro62_Leu63insPro)	FASLG	Microsatellite (inframe_insertion)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1980785	NM_000639.3(FASLG):c.162_188dup (p.Pro65_Leu66insProProProProProProLeuProPro)	FASLG	Duplication (inframe_insertion)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1955589	NM_000639.3(FASLG):c.424_425delinsTT (p.Glu142Leu)	FASLG (E142L)	Indel (missense variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1953804	NM_000639.3(FASLG):c.394+13dup	FASLG	Duplication (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GBenign
Select item 1951037	NM_000639.3(FASLG):c.522G>A (p.Val174=)	FASLG	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 1924699	NM_000639.3(FASLG):c.552T>C (p.Asn184=)	FASLG	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 1715711	NM_000639.3(FASLG):c.628A>G (p.Lys210Glu)	FASLG (K210E)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1684736	NM_000639.3(FASLG):c.51C>A (p.Ser17Arg)	FASLG (S17R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1664713	NM_000639.3(FASLG):c.207A>G (p.Pro69=)	FASLG	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 1664110	NM_000639.3(FASLG):c.180G>A (p.Pro60=)	FASLG	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 1650196	NM_000639.3(FASLG):c.243G>T (p.Leu81=)	FASLG	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 1637505	NM_000639.3(FASLG):c.394+14C>T	FASLG	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 1633656	NM_000639.3(FASLG):c.348+12G>A	FASLG	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 1567771	NM_000639.3(FASLG):c.666G>A (p.Leu222=)	FASLG	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 1556221	NM_000639.3(FASLG):c.615G>T (p.Leu205=)	FASLG	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 1547837	NM_000639.3(FASLG):c.395-9A>G	FASLG	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527393	GRCh37/hg19 1q24.3-25.1(chr1:171881608-175899893)	ANKRD45, C1orf105 +26 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1506682	NM_000639.3(FASLG):c.362T>G (p.Met121Arg)	FASLG (M121R)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1506314	NM_000639.3(FASLG):c.532A>G (p.Lys178Glu)	FASLG (K178E)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1 +1 more	GUncertain significance
Select item 1498231	NM_000639.3(FASLG):c.119C>T (p.Pro40Leu)	FASLG (P40L)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1493601	NM_000639.3(FASLG):c.313T>C (p.Phe105Leu)	FASLG (F105L)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1 +1 more	GUncertain significance
Select item 1492383	NM_000639.3(FASLG):c.113G>A (p.Arg38Lys)	FASLG (R38K)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1479824	NM_000639.3(FASLG):c.484T>C (p.Trp162Arg)	FASLG (W162R)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1468713	NM_000639.3(FASLG):c.598C>A (p.Gln200Lys)	FASLG (Q200K)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1461110	NM_000639.3(FASLG):c.270T>C (p.Val90=)	FASLG	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 1443736	NM_000639.3(FASLG):c.190_213dup (p.Pro64_Leu71dup)	FASLG	Duplication (inframe_insertion)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1433851	NM_000639.3(FASLG):c.152C>T (p.Pro51Leu)	FASLG (P51L)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1428184	NM_000639.3(FASLG):c.343C>T (p.Arg115Ter)	FASLG (R115*)	Single nucleotide variant (nonsense)	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 1419756	NM_000639.3(FASLG):c.344G>A (p.Arg115Gln)	FASLG (R115Q)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1412258	NM_000639.3(FASLG):c.117G>T (p.Arg39Ser)	FASLG (R39S)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1409896	NC_000001.10:g.(?_171605065)_(173962123_?)dup	ANKRD45, C1orf105 +22 more	Duplication	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1405869	NM_000639.3(FASLG):c.156_179dup (p.Leu54_Pro61dup)	FASLG	Duplication (inframe_insertion)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1402973	NM_000639.3(FASLG):c.300G>T (p.Gly100=)	FASLG	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1401371	NM_000639.3(FASLG):c.692G>A (p.Ser231Asn)	FASLG (S231N)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance

<< First< Prev

Page of 3