841[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
Select item 147402	GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1	ALS2, AOX1 +117 more	Copy number loss	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 659600	NC_000002.12:g.(?_201228913)_(201286614_?)del	LOC129935411, LOC129935412 +7 more	Deletion	Autoimmune lymphoproliferative syndrome type 2B	GPathogenic
Select item 1050572	NC_000002.12:g.201231781G>A	CASP8	Single nucleotide variant	not provided	GUncertain significance
Select item 7763	NM_001228.4(CASP8):c.-937_-932del	CASP8	Deletion	Lung cancer, protection against	Gprotective
Select item 897519	NM_001228.4(CASP8):c.-310A>G	CASP8	Single nucleotide variant	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 897520	NM_001228.5(CASP8):c.-208A>G	CASP8	Single nucleotide variant (5 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 897521	NM_001228.5(CASP8):c.-143T>G	CASP8	Single nucleotide variant (5 prime UTR variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B	GBenign
Select item 897522	NM_001228.5(CASP8):c.-117C>A	CASP8	Single nucleotide variant (5 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 897523	NM_001228.5(CASP8):c.-83T>C	CASP8	Single nucleotide variant (5 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1263107	NM_001228.5(CASP8):c.-26-8469T>G	CASP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 402493	NM_001228.5(CASP8):c.-26-8228T>C	CASP8, LOC128772255 (M1T)	Single nucleotide variant (missense variant +4 more)	not specified +1 more	GBenign
Select item 2651816	NM_001228.5(CASP8):c.-26-8200T>G	CASP8, LOC128772255	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 402492	NM_001228.5(CASP8):c.-26-8189A>G	CASP8, LOC128772255 (K14R)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B +2 more	GBenign
Select item 973626	NM_001228.5(CASP8):c.-26-8157C>A	CASP8, LOC128772255 (P25T)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 973627	NM_001228.5(CASP8):c.-26-8138T>A	CASP8, LOC128772255 (V31E)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 1029014	NM_001228.5(CASP8):c.-26-8118G>A	LOC128772255, CASP8 +1 more (D38N)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 973625	NM_001228.5(CASP8):c.-26-8094G>C	CASP8, LOC129935411 (G46R)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 870948	NM_001228.5(CASP8):c.-26-8076G>A	CASP8, LOC129935411	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1184344	NM_001228.5(CASP8):c.-26-6994T>C	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 870949	NM_001372051.1(CASP8):c.-15C>A	CASP8 (L55M)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1448716	NM_001372051.1(CASP8):c.23A>G (p.Tyr8Cys)	CASP8 (Y67C +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1923319	NM_001372051.1(CASP8):c.25G>A (p.Asp9Asn)	CASP8 (D68N +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1433617	NM_001372051.1(CASP8):c.26A>G (p.Asp9Gly)	CASP8 (D9G +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2989453	NM_001372051.1(CASP8):c.33G>A (p.Gly11=)	CASP8	Single nucleotide variant (synonymous variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 957581	NM_001372051.1(CASP8):c.43G>A (p.Asp15Asn)	CASP8 (D74N +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1442547	NM_001372051.1(CASP8):c.48T>A (p.Ser16Arg)	CASP8 (S75R +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2146528	NM_001372051.1(CASP8):c.68A>G (p.Lys23Arg)	CASP8 (K23R +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 797253	NM_001372051.1(CASP8):c.75G>A (p.Leu25=)	CASP8	Single nucleotide variant (synonymous variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 1139184	NM_001372051.1(CASP8):c.84C>T (p.Asp28=)	CASP8	Single nucleotide variant (synonymous variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 1384154	NM_001372051.1(CASP8):c.91C>T (p.Pro31Ser)	CASP8 (P90S +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1025842	NM_001372051.1(CASP8):c.92C>T (p.Pro31Leu)	CASP8 (P31L +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1156057	NM_001372051.1(CASP8):c.93G>A (p.Pro31=)	CASP8	Single nucleotide variant (synonymous variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 972100	NM_001372051.1(CASP8):c.94C>G (p.Gln32Glu)	CASP8 (Q32E +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2081380	NM_001372051.1(CASP8):c.99G>T (p.Arg33Ser)	CASP8 (R33S +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 533731	NM_001372051.1(CASP8):c.102G>A (p.Lys34=)	CASP8	Single nucleotide variant (synonymous variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2198922	NM_001372051.1(CASP8):c.112A>G (p.Ile38Val)	CASP8 (I97V +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1032705	NM_001372051.1(CASP8):c.120T>G (p.Asp40Glu)	CASP8 (D99E +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1719870	NM_001372051.1(CASP8):c.155G>A (p.Arg52Lys)	CASP8 (R111K +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 625904	NM_001372051.1(CASP8):c.159G>A (p.Met53Ile)	CASP8 (M53I +1 more)	Single nucleotide variant (missense variant +3 more)	Hepatocellular carcinoma +3 more	GUncertain significance
Select item 533728	NM_001372051.1(CASP8):c.159G>C (p.Met53Ile)	CASP8 (M53I +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1934313	NM_001372051.1(CASP8):c.174T>C (p.Asn58=)	CASP8	Single nucleotide variant (synonymous variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 1539203	NM_001372051.1(CASP8):c.195G>A (p.Leu65=)	CASP8	Single nucleotide variant (synonymous variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2965545	NM_001372051.1(CASP8):c.198C>T (p.Leu66=)	CASP8	Single nucleotide variant (synonymous variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 946113	NM_001372051.1(CASP8):c.202C>T (p.Arg68Ter)	CASP8 (R127* +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GPathogenic
Select item 1561419	NM_001372051.1(CASP8):c.234C>T (p.Tyr78=)	CASP8	Single nucleotide variant (non-coding transcript variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2101467	NM_001372051.1(CASP8):c.244A>G (p.Arg82Gly)	CASP8 (R141G +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1041281	NM_001372051.1(CASP8):c.251A>G (p.Glu84Gly)	CASP8 (E143G +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 957397	NM_001372051.1(CASP8):c.260A>G (p.Glu87Gly)	CASP8 (E87G +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2060334	NM_001372051.1(CASP8):c.262A>G (p.Arg88Gly)	CASP8 (R88G +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 3137625	NM_001372051.1(CASP8):c.263G>A (p.Arg88Lys)	CASP8 (R147K +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1668534	NM_001372051.1(CASP8):c.267A>G (p.Glu89=)	CASP8	Single nucleotide variant (synonymous variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 571008	NM_001372051.1(CASP8):c.286G>T (p.Ala96Ser)	CASP8 (A96S +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B +1 more	GUncertain significance
Select item 1462174	NM_001372051.1(CASP8):c.289C>A (p.Gln97Lys)	CASP8 (Q156K +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1718185	NM_001372051.1(CASP8):c.293T>G (p.Ile98Ser)	CASP8 (I157S +1 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1973002	NM_001372051.1(CASP8):c.305+14_305+19del	CASP8	Deletion (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2783730	NM_001372051.1(CASP8):c.305+16del	CASP8	Deletion (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2889821	NM_001372051.1(CASP8):c.305+18T>C	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 1292384	NM_001372051.1(CASP8):c.305+73T>G	CASP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291088	NM_001372051.1(CASP8):c.306-2095G>T	CASP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1592412	NM_001372051.1(CASP8):c.306-2020T>C	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2879079	NM_001372051.1(CASP8):c.306-2018G>A	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 1594972	NM_001372051.1(CASP8):c.306-2017G>T	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 1549376	NM_001372051.1(CASP8):c.306-2015C>G	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 753267	NM_001372051.1(CASP8):c.306-2014C>T	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 1113376	NM_001372051.1(CASP8):c.306-2012T>C	CASP8	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 2049504	NM_001372051.1(CASP8):c.306-2006G>A	CASP8	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2098005	NM_001372051.1(CASP8):c.306-2000C>T	CASP8	Single nucleotide variant (synonymous variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 1461613	NM_001372051.1(CASP8):c.306-1993C>T	CASP8 (R107C)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2157440	NM_001372051.1(CASP8):c.306-1992G>A	CASP8 (R107H)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2168995	NM_001372051.1(CASP8):c.306-1990A>G	CASP8 (M108V)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 1355954	NM_001372051.1(CASP8):c.306-1981del	CASP8 (A111fs)	Deletion (frameshift variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GPathogenic
Select item 895689	NM_001372051.1(CASP8):c.306-1980C>A	CASP8 (A111D)	Single nucleotide variant (intron variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2885998	NM_001372051.1(CASP8):c.306-1978G>T	CASP8 (E112*)	Single nucleotide variant (intron variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GPathogenic
Select item 2790366	NM_001372051.1(CASP8):c.306-1976del	CASP8 (A113fs)	Deletion (frameshift variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GPathogenic
Select item 1932241	NM_001372051.1(CASP8):c.306-1974C>A	CASP8 (A113E)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 573566	NM_001372051.1(CASP8):c.306-1971A>G	CASP8 (N114S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3263441	NM_001372051.1(CASP8):c.306-1962G>A	CASP8 (C117Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2072614	NM_001372051.1(CASP8):c.306-1954_306-1953del	CASP8 (Q120fs)	Microsatellite (frameshift variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GPathogenic
Select item 853291	NM_001372051.1(CASP8):c.306-1954C>G	CASP8 (Q120E)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 968654	NM_001372051.1(CASP8):c.306-1949_306-1947delinsC	CASP8 (V122fs)	Indel (frameshift variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GPathogenic
Select item 2240920	NM_001372051.1(CASP8):c.306-1945C>A	CASP8 (P123T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1365938	NM_001372051.1(CASP8):c.306-1935G>A	CASP8 (R126Q)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B +1 more	GUncertain significance
Select item 1935186	NM_001372051.1(CASP8):c.306-1930dup	CASP8 (V128fs)	Duplication (frameshift variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GPathogenic
Select item 533730	NM_001372051.1(CASP8):c.306-1928C>T	CASP8	Single nucleotide variant (intron variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GLikely benign
Select item 1523879	NM_001372051.1(CASP8):c.306-1926A>G	CASP8 (D129G)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 333497	NM_001372051.1(CASP8):c.306-1918T>C	CASP8	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1436493	NM_001372051.1(CASP8):c.306-1915A>G	CASP8 (I133V)	Single nucleotide variant (intron variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 962999	NM_001372051.1(CASP8):c.306-1911G>A	CASP8 (R134K)	Single nucleotide variant (missense variant +1 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance

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