ClinVar for Gene (Select 2213) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 2639516	NM_001394477.1(FCGR2B):c.608C>T (p.Thr203Met)	FCGR2B (T176M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2548699	NM_001394477.1(FCGR2B):c.415C>A (p.His139Asn)	FCGR2B (H131N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492303	NM_001394477.1(FCGR2B):c.920A>G (p.Gln307Arg)	FCGR2B (Q299R +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2458610	NM_001394477.1(FCGR2B):c.214C>T (p.Arg72Trp)	FCGR2B (R71W +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2423233	NC_000001.10:g.(?_161279609)_(161751809_?)dup	ATF6, CFAP126 +11 more	Duplication	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2402519	NM_001394477.1(FCGR2B):c.143C>A (p.Pro48Gln)	FCGR2B (P21Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396187	NM_001394477.1(FCGR2B):c.526C>T (p.Arg176Cys)	FCGR2B (R149C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276576	NM_001394477.1(FCGR2B):c.890A>G (p.His297Arg)	FCGR2B (H270R +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2251004	NM_001394477.1(FCGR2B):c.137C>G (p.Ala46Gly)	FCGR2B (A45G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2236789	NM_001394477.1(FCGR2B):c.454T>G (p.Cys152Gly)	FCGR2B (C144G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229593	NM_001394477.1(FCGR2B):c.539A>G (p.Asn180Ser)	FCGR2B (N153S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2204937	NM_001394477.1(FCGR2B):c.848A>G (p.Lys283Arg)	FCGR2B (K263R +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	TAGLN2, TOMM40L +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1375513	NC_000001.10:g.(?_161645027)_(161772082_?)dup	ATF6, DUSP12 +3 more	Duplication	not provided	GUncertain significance
Select item 1285216	NM_001394477.1(FCGR2B):c.646+7G>A	FCGR2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1049520	NM_001394477.1(FCGR2B):c.550C>T (p.Pro184Ser)	FCGR2B (P176S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 814134	GRCh37/hg19 1q23.3(chr1:161134675-161652307)x3	ADAMTS4, APOA2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 806265	NM_001394477.1(FCGR2B):c.219G>A (p.Gly73=)	FCGR2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 806264	NM_001394477.1(FCGR2B):c.189G>A (p.Gln63=)	FCGR2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 779299	NM_001394477.1(FCGR2B):c.766C>T (p.Pro256Ser)	FCGR2B (P249S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 739744	NM_001394477.1(FCGR2B):c.856-4C>G	FCGR2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 688334	GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3	ADAMTS4, APOA2 +42 more	Copy number gain	not provided	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 565192	GRCh37/hg19 1q23.3(chr1:161469309-162517412)x3	FCGR2B, C1orf226 +14 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 150542	GRCh38/hg38 1q23.3(chr1:161589951-161649210)x3	FCGR2B, FCGR2C +4 more	Copy number gain	See cases	GLikely benign
Select item 149428	GRCh38/hg38 1q23.3(chr1:161589951-161680659)x1	FCGR2B, FCGR2C +4 more	Copy number loss	See cases	GLikely benign
Select item 147039	GRCh38/hg38 1q23.3(chr1:161589976-161649084)x3	FCGR2B, FCGR2C +4 more	Copy number gain	See cases	GBenign
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 57816	GRCh38/hg38 1q23.3(chr1:161513195-161671153)x3	FCGR2A, FCGR2B +13 more	Copy number gain	See cases	GUncertain significance
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 5467	NM_001394477.1(FCGR2B):c.695T>C (p.Ile232Thr)	FCGR2B (I232T +3 more)	Single nucleotide variant (missense variant +1 more)	Malaria, resistance to +1 more	Gprotective; risk factor
Select item 5466	NM_004001.4(FCGR2B):c.-386G>C	FCGR2B	Single nucleotide variant (genic upstream transcript variant)	Systemic lupus erythematosus, susceptibility to	Grisk factor

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Links from Gene

Items: 39