ClinVar for Gene (Select 127943) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3094258	NM_001002901.4(FCRLB):c.875T>C (p.Leu292Pro)	FCRLB (W244R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094257	NM_001002901.4(FCRLB):c.715T>C (p.Tyr239His)	FCRLB, LOC129931782 (V197A +2 more)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3094255	NM_001002901.4(FCRLB):c.670C>T (p.His224Tyr)	FCRLB, LOC129931781 (H224Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094254	NM_001002901.4(FCRLB):c.374G>A (p.Arg125His)	FCRLB (R125H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094253	NM_001002901.4(FCRLB):c.211C>A (p.His71Asn)	FCRLB (H71N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094252	NM_001002901.4(FCRLB):c.1064C>A (p.Ala355Asp)	FCRLB, LOC129931784 (L300I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094251	NM_001002901.4(FCRLB):c.1024C>G (p.Pro342Ala)	FCRLB (P342A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 2596702	NM_001002901.4(FCRLB):c.222C>A (p.Ser74Arg)	FCRLB (S74R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554376	NM_001002901.4(FCRLB):c.404T>C (p.Leu135Pro)	FCRLB (L135P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553029	NM_001002901.4(FCRLB):c.91T>G (p.Trp31Gly)	FCRLB (W24G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525550	NM_001002901.4(FCRLB):c.923C>T (p.Ala308Val)	FCRLB (L253F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480905	NM_001002901.4(FCRLB):c.1210A>C (p.Thr404Pro)	FCRLB (T404P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474657	NM_001002901.4(FCRLB):c.1001C>G (p.Thr334Ser)	FCRLB (P279A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 2392720	NM_001002901.4(FCRLB):c.944C>T (p.Ser315Phe)	FCRLB (P267S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2376119	NM_001002901.4(FCRLB):c.1225A>G (p.Thr409Ala)	FCRLB (T409A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356833	NM_001002901.4(FCRLB):c.673C>T (p.Pro225Ser)	FCRLB, LOC129931781 (P225S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356499	NM_001002901.4(FCRLB):c.1247C>G (p.Pro416Arg)	FCRLB (P416R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333567	NM_001002901.4(FCRLB):c.752A>G (p.Glu251Gly)	FCRLB, LOC129931782 (E251G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326127	NM_001002901.4(FCRLB):c.646G>A (p.Val216Met)	FCRLB, LOC129931781 (V216M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288939	NM_001002901.4(FCRLB):c.863C>A (p.Pro288Gln)	FCRLB, LOC129931783 (P288Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285231	NM_001002901.4(FCRLB):c.703G>T (p.Ala235Ser)	FCRLB (R200L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260534	NM_001002901.4(FCRLB):c.679A>G (p.Lys227Glu)	FCRLB, LOC129931781 (E192G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254505	NM_001002901.4(FCRLB):c.700T>A (p.Phe234Ile)	FCRLB, LOC129931781 (V192D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220526	NM_001002901.4(FCRLB):c.1211C>T (p.Thr404Met)	FCRLB (T404M)	Single nucleotide variant (missense variant +1 more)	not specified	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 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
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 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 40