FCRLA[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	ABL2, ACKR1 +1586 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	LOC126805903, LOC126805904 +776 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
Select item 3514513	NM_032738.4(FCRLA):c.-36A>G	FCRLA	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3094250	NM_032738.4(FCRLA):c.19C>T (p.Leu7Phe)	FCRLA (L7F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243090	NM_032738.4(FCRLA):c.53T>G (p.Val18Gly)	FCRLA (V18G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3514520	NM_032738.4(FCRLA):c.80-271G>A	FCRLA (A31T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3514518	NM_032738.4(FCRLA):c.95C>T (p.Thr32Met)	FCRLA (T37M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3514512	NM_032738.4(FCRLA):c.110G>A (p.Gly37Glu)	FCRLA (G42E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094248	NM_032738.4(FCRLA):c.167G>A (p.Arg56Lys)	FCRLA (R61K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278418	NM_032738.4(FCRLA):c.214C>T (p.His72Tyr)	FCRLA (H72Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278419	NM_032738.4(FCRLA):c.227C>T (p.Ser76Phe)	FCRLA (S76F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353284	NM_032738.4(FCRLA):c.275G>A (p.Gly92Glu)	FCRLA (G98E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271476	NM_032738.4(FCRLA):c.286G>A (p.Val96Ile)	FCRLA (V101I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368376	NM_032738.4(FCRLA):c.317C>T (p.Pro106Leu)	FCRLA (P106L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777952	NM_032738.4(FCRLA):c.322A>G (p.Thr108Ala)	FCRLA (T114A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3278415	NM_032738.4(FCRLA):c.341G>A (p.Arg114Gln)	FCRLA (R120Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278420	NM_032738.4(FCRLA):c.365C>T (p.Pro122Leu)	FCRLA (P128L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512466	NM_032738.4(FCRLA):c.367G>A (p.Gly123Arg)	FCRLA (G123R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293529	NM_032738.4(FCRLA):c.386C>T (p.Ser129Phe)	FCRLA (S135F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271973	NM_032738.4(FCRLA):c.400C>A (p.Gln134Lys)	FCRLA (Q139K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3514514	NM_032738.4(FCRLA):c.460A>G (p.Ile154Val)	FCRLA (I154V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094249	NM_032738.4(FCRLA):c.517A>G (p.Ile173Val)	FCRLA (I179V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3514515	NM_032738.4(FCRLA):c.520C>A (p.Leu174Ile)	FCRLA (L174I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784960	NM_032738.4(FCRLA):c.529G>C (p.Val177Leu)	FCRLA (V177L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2617989	NM_032738.4(FCRLA):c.589C>T (p.Pro197Ser)	FCRLA (P202S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508346	NM_032738.4(FCRLA):c.607G>A (p.Ala203Thr)	FCRLA (A114T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2411625	NM_032738.4(FCRLA):c.637G>A (p.Gly213Arg)	FCRLA (G124R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379074	NM_032738.4(FCRLA):c.643A>G (p.Ile215Val)	FCRLA (I126V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717893	NM_032738.4(FCRLA):c.646G>A (p.Val216Met)	FCRLA (V127M +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2480235	NM_032738.4(FCRLA):c.647T>G (p.Val216Gly)	FCRLA (V216G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774587	NM_032738.4(FCRLA):c.785-10C>T	FCRLA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2478577	NM_032738.4(FCRLA):c.794G>T (p.Ser265Ile)	FCRLA (S30I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275168	NM_032738.4(FCRLA):c.848G>A (p.Gly283Glu)	FCRLA (G149E +8 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3278417	NM_032738.4(FCRLA):c.916T>C (p.Phe306Leu)	FCRLA (F122L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554543	NM_032738.4(FCRLA):c.936G>T (p.Met312Ile)	FCRLA (M128I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094247	NM_032738.4(FCRLA):c.997G>C (p.Val333Leu)	FCRLA (V193L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278416	NM_032738.4(FCRLA):c.1000C>T (p.Leu334Phe)	FCRLA (L150F +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780274	NM_032738.4(FCRLA):c.1026G>A (p.Leu342=)	FCRLA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3514516	NM_032738.4(FCRLA):c.1045C>T (p.Arg349Trp)	FCRLA (R209W +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493708	NM_032738.4(FCRLA):c.1061C>A (p.Thr354Lys)	FCRLA (T359K +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3514519	NM_032738.4(FCRLA):c.1075G>C (p.Glu359Gln)	FCRLA (E124Q +8 more)	Single nucleotide variant (missense variant)	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 2423233	NC_000001.10:g.(?_161279609)_(161751809_?)dup	ATF6, CFAP126 +11 more	Duplication	Charcot-Marie-Tooth disease, type I	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	LY9, MNDA +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	ARL8A, CNIH4 +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)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +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

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Items: 55