2212[geneid] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3039046	NM_001136219.3(FCGR2A):c.144G>A (p.Pro48=)	FCGR2A	Single nucleotide variant (synonymous variant)	FCGR2A-related disorder	GLikely benign
Select item 3059662	NM_001136219.3(FCGR2A):c.153C>T (p.Asn51=)	FCGR2A	Single nucleotide variant (synonymous variant)	FCGR2A-related disorder	GLikely benign
Select item 402852	NM_001136219.3(FCGR2A):c.187C>T (p.Gln63Ter)	FCGR2A (Q62* +1 more)	Single nucleotide variant (nonsense)	not specified +1 more	GBenign
Select item 402850	NM_001136219.3(FCGR2A):c.188A>G (p.Gln63Arg)	FCGR2A (Q62R +1 more)	Single nucleotide variant (missense variant)	FCGR2A-related disorder +1 more	GBenign
Select item 714935	NM_001136219.3(FCGR2A):c.210C>T (p.Ser70=)	FCGR2A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2290155	NM_001136219.3(FCGR2A):c.221A>C (p.Gln74Pro)	FCGR2A (Q73P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094057	NM_001136219.3(FCGR2A):c.257C>T (p.Thr86Met)	FCGR2A (T85M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237118	NM_001136219.3(FCGR2A):c.281C>T (p.Ala94Val)	FCGR2A (A94V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094058	NM_001136219.3(FCGR2A):c.308C>T (p.Thr103Met)	FCGR2A (T103M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094059	NM_001136219.3(FCGR2A):c.341C>T (p.Pro114Leu)	FCGR2A (P113L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1284990	NM_001136219.3(FCGR2A):c.363C>T (p.Ser121=)	FCGR2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 402853	NM_001136219.3(FCGR2A):c.365-11G>A	FCGR2A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1285036	NM_001136219.3(FCGR2A):c.418A>G (p.Met140Val)	FCGR2A (M139V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2481119	NM_001136219.3(FCGR2A):c.449C>G (p.Pro150Arg)	FCGR2A (P149R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1675085	NM_001136219.3(FCGR2A):c.497C>T (p.Ser166Phe)	FCGR2A (S165F +1 more)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus +2 more	GUncertain significance
Select item 14823	NM_001136219.3(FCGR2A):c.500A>G (p.His167Arg)	FCGR2A (H166R +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2323352	NM_001136219.3(FCGR2A):c.514T>C (p.Phe172Leu)	FCGR2A (F171L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409555	NM_001136219.3(FCGR2A):c.614T>C (p.Val205Ala)	FCGR2A (V205A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552716	NM_001136219.3(FCGR2A):c.626G>C (p.Ser209Thr)	FCGR2A (S209T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604178	NM_001136219.3(FCGR2A):c.635G>A (p.Ser212Asn)	FCGR2A (S211N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 402854	NM_001136219.3(FCGR2A):c.645A>G (p.Pro215=)	FCGR2A	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 2639511	NM_001136219.3(FCGR2A):c.648G>A (p.Met216Ile)	FCGR2A (M215I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2224483	NM_001136219.3(FCGR2A):c.671T>C (p.Ile224Thr)	FCGR2A (I223T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2224484	NM_001136219.3(FCGR2A):c.674C>G (p.Ala225Gly)	FCGR2A (A225G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2224485	NM_001136219.3(FCGR2A):c.677C>T (p.Thr226Ile)	FCGR2A (T225I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 718001	NM_001136219.3(FCGR2A):c.733C>T (p.Arg245Trp)	FCGR2A (R244W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2462674	NM_001136219.3(FCGR2A):c.734G>A (p.Arg245Gln)	FCGR2A (R244Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 57816	GRCh38/hg38 1q23.3(chr1:161513195-161671153)x3	FCGR2A, FCGR2B +13 more	Copy number gain	See cases	GUncertain significance
Select item 2216250	NM_001136219.3(FCGR2A):c.776T>C (p.Phe259Ser)	FCGR2A (F217S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1675086	NM_001136219.3(FCGR2A):c.780+1G>A	FCGR2A	Single nucleotide variant (splice donor variant)	Systemic lupus erythematosus +2 more	GUncertain significance
Select item 3094061	NM_001136219.3(FCGR2A):c.799A>C (p.Ile267Leu)	FCGR2A (I226L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402855	NM_001136219.3(FCGR2A):c.879C>T (p.Pro293=)	FCGR2A	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2393868	NM_001136219.3(FCGR2A):c.895G>A (p.Asp299Asn)	FCGR2A (D299N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094062	NM_001136219.3(FCGR2A):c.943A>T (p.Ser315Cys)	FCGR2A (S274C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672366	NM_001136219.3(FCGR2A):c.943A>G (p.Ser315Gly)	FCGR2A (S273G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3094063	NM_001136219.3(FCGR2A):c.944G>A (p.Ser315Asn)	FCGR2A (S315N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 156760	NM_002155.4(HSPA6):c.-1862_*5145del	FCGR2A, HSPA6 +4 more	Deletion	Small for gestational age	Gnot provided
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	TAGLN2, TOMM40L +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	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 814134	GRCh37/hg19 1q23.3(chr1:161134675-161652307)x3	ADAMTS4, APOA2 +17 more	Copy number gain	not provided	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

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Items: 52