356[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 1165021	NC_000001.11:g.172658358C>T	FASLG	Single nucleotide variant	Autoimmune lymphoproliferative syndrome type 1 +1 more	GBenign
Select item 16496	NC_000001.11:g.172658358=	FASLG	Single nucleotide variant	LUNG CANCER, SUSCEPTIBILITY TO	Grisk factor
Select item 1236304	NC_000001.11:g.172658724A>T	FASLG	Single nucleotide variant	not provided	GBenign
Select item 801573	NC_000001.11:g.172658929A>G	FASLG	Single nucleotide variant	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 1272607	NC_000001.11:g.172658997C>G	FASLG	Single nucleotide variant	not provided	GBenign
Select item 801574	NM_001302746.1(FASLG):c.-187_-186GA[4]	FASLG	Microsatellite	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 293725	NM_000639.2(FASLG):c.-136G>A	FASLG	Single nucleotide variant	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 293726	NM_000639.3(FASLG):c.-16T>C	FASLG	Single nucleotide variant (5 prime UTR variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
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 293727	NM_000639.3(FASLG):c.42G>C (p.Trp14Cys)	FASLG (W14C)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 2765866	NM_000639.3(FASLG):c.44del (p.Val15fs)	FASLG (V15fs)	Deletion (frameshift variant)	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 850665	NM_000639.3(FASLG):c.49A>C (p.Ser17Arg)	FASLG (S17R)	Single nucleotide variant (missense variant)	not provided +1 more	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 1045622	NM_000639.3(FASLG):c.54T>A (p.Ser18Arg)	FASLG (S18R)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 792696	NM_000639.3(FASLG):c.72C>A (p.Ala24=)	FASLG	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
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 857274	NM_000639.3(FASLG):c.95G>C (p.Cys32Ser)	FASLG (C32S)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 293728	NM_000639.3(FASLG):c.108G>A (p.Val36=)	FASLG	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 1 +1 more	GBenign/Likely benign
Select item 532227	NM_000639.3(FASLG):c.109C>G (p.Pro37Ala)	FASLG (P37A)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1	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 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 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 2184615	NM_000639.3(FASLG):c.135ACC[2] (p.Pro52_Pro53del)	FASLG	Microsatellite (inframe_deletion)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1036255	NM_000639.3(FASLG):c.135ACC[3] (p.Pro53del)	FASLG (P53del)	Microsatellite (inframe_deletion)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 3030472	NM_000639.3(FASLG):c.141_167del (p.48PPPPPPLPP[1])	FASLG	Deletion	FASLG-related disorder	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 851854	NM_000639.3(FASLG):c.137C>T (p.Pro46Leu)	FASLG (P46L)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 532231	NM_000639.3(FASLG):c.144_152del (p.Pro51_Pro53del)	FASLG	Deletion (inframe_deletion)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 532228	NM_000639.3(FASLG):c.147GCCACC[3] (p.Pro52_Pro53dup)	FASLG	Microsatellite (inframe_insertion)	Autoimmune lymphoproliferative syndrome type 1 +1 more	GUncertain significance
Select item 837308	NM_000639.3(FASLG):c.147GCCACC[1] (p.Pro52_Pro53del)	FASLG	Microsatellite (inframe_deletion)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 759475	NM_000639.3(FASLG):c.144A>G (p.Pro48=)	FASLG	Single nucleotide variant (synonymous variant)	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 293729	NM_000639.3(FASLG):c.147G>A (p.Pro49=)	FASLG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 1405869	NM_000639.3(FASLG):c.156_179dup (p.Leu54_Pro61dup)	FASLG	Duplication (inframe_insertion)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
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 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 735838	NM_000639.3(FASLG):c.153G>A (p.Pro51=)	FASLG	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
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 1984410	NM_000639.3(FASLG):c.171GCC[5] (p.Pro62_Leu63insPro)	FASLG	Microsatellite (inframe_insertion)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 293730	NM_000639.3(FASLG):c.171GCC[2] (p.Pro61_Pro62del)	FASLG	Microsatellite (inframe_deletion)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 942486	NM_000639.3(FASLG):c.170C>T (p.Pro57Leu)	FASLG (P57L)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 934714	NM_000639.3(FASLG):c.173C>T (p.Pro58Leu)	FASLG (P58L)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
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 293731	NM_000639.3(FASLG):c.174G>A (p.Pro58=)	FASLG	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 293732	NM_000639.3(FASLG):c.176C>T (p.Pro59Leu)	FASLG (P59L)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1 +1 more	GConflicting classifications of pathogenicity
Select item 293733	NM_000639.3(FASLG):c.177G>A (p.Pro59=)	FASLG	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 1	GBenign
Select item 1040181	NM_000639.3(FASLG):c.179C>T (p.Pro60Leu)	FASLG (P60L)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1 +1 more	GUncertain significance
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 1443736	NM_000639.3(FASLG):c.190_213dup (p.Pro64_Leu71dup)	FASLG	Duplication (inframe_insertion)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
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 1327545	NM_000639.3(FASLG):c.203dup (p.Pro69fs)	FASLG (P69fs)	Duplication (frameshift variant)	Autoimmune lymphoproliferative syndrome type 1	Gnot provided
Select item 1092451	NM_000639.3(FASLG):c.204G>A (p.Leu68=)	FASLG	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
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 801575	NM_000639.3(FASLG):c.209C>G (p.Pro70Arg)	FASLG (P70R)	Single nucleotide variant (missense variant)	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 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 2575930	NM_000639.3(FASLG):c.220A>G (p.Arg74Gly)	FASLG (R74G)	Single nucleotide variant (missense variant)	not provided	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 1159044	NM_000639.3(FASLG):c.225G>A (p.Gly75=)	FASLG	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
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 2541137	NM_000639.3(FASLG):c.236C>A (p.Thr79Lys)	FASLG (T79K)	Single nucleotide variant (missense variant)	not specified	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 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 944841	NM_000639.3(FASLG):c.256A>G (p.Met86Val)	FASLG (M86V)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1170509	NM_000639.3(FASLG):c.259T>C (p.Phe87Leu)	FASLG (F87L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 156103	NM_000639.3(FASLG):c.263del (p.Phe88fs)	FASLG (F88fs)	Deletion (frameshift variant)	Autoimmune lymphoproliferative syndrome type 1	Gnot provided
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 293734	NM_000639.3(FASLG):c.278C>T (p.Ala93Val)	FASLG (A93V)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 1 +1 more	GConflicting classifications of pathogenicity
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 293735	NM_000639.3(FASLG):c.280T>G (p.Leu94Val)	FASLG (L94V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 960109	NM_000639.3(FASLG):c.301A>G (p.Met101Val)	FASLG (M101V)	Single nucleotide variant (missense variant)	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 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 660467	NM_000639.3(FASLG):c.319C>A (p.Leu107Ile)	FASLG (L107I)	Single nucleotide variant (missense variant)	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 1036420	NM_000639.3(FASLG):c.323A>G (p.Gln108Arg)	FASLG (Q108R)	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 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 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 2894292	NM_000639.3(FASLG):c.348+9G>A	FASLG	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
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 1633656	NM_000639.3(FASLG):c.348+12G>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 1286749	NM_000639.3(FASLG):c.348+208A>G	FASLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 548472	NM_000639.3(FASLG):c.349-45G>T	FASLG	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type 1b +1 more	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

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