ClinVar for Gene (Select 84824) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 3094250	NM_032738.4(FCRLA):c.19C>T (p.Leu7Phe)	FCRLA (L7F)	Single nucleotide variant (missense variant)	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 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 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 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
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 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 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 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 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 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 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 2423233	NC_000001.10:g.(?_161279609)_(161751809_?)dup	ATF6, CFAP126 +11 more	Duplication	Charcot-Marie-Tooth disease, type I	GUncertain significance
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 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 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 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 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 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 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 2243090	NM_032738.4(FCRLA):c.53T>G (p.Val18Gly)	FCRLA (V18G)	Single nucleotide variant (missense variant)	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	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	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	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 780274	NM_032738.4(FCRLA):c.1026G>A (p.Leu342=)	FCRLA	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 774587	NM_032738.4(FCRLA):c.785-10C>T	FCRLA	Single nucleotide variant (intron variant)	not provided	GBenign
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 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
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 47