FGR[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 59928	GRCh38/hg38 1p36.11-35.3(chr1:26807012-27685191)x1	AHDC1, CD164L2 +98 more	Copy number loss	See cases	GPathogenic
Select item 148586	GRCh38/hg38 1p36.11-35.3(chr1:26854636-27645829)x1	AHDC1, CD164L2 +88 more	Copy number loss	See cases	GUncertain significance
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 150249	GRCh38/hg38 1p36.11-35.3(chr1:27429343-27699564)x1	AHDC1, FGR +32 more	Copy number loss	See cases	GUncertain significance
Select item 59930	GRCh38/hg38 1p35.3(chr1:27601122-27889441)x1	AHDC1, FAM76A +32 more	Copy number loss	See cases	GPathogenic
Select item 983544	NM_005248.3(FGR):c.1573C>T (p.Pro525Ser)	FGR	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3094865	NM_005248.3(FGR):c.1562C>T (p.Pro521Leu)	FGR (P521L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538027	NM_005248.3(FGR):c.1489C>G (p.Leu497Val)	FGR (L497V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284620	NM_005248.3(FGR):c.1393C>T (p.Arg465Trp)	FGR (R465W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094863	NM_005248.3(FGR):c.1379C>T (p.Pro460Leu)	FGR (P460L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287967	NM_005248.3(FGR):c.1351C>T (p.Leu451Phe)	FGR (L451F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296253	NM_005248.3(FGR):c.1327T>C (p.Ser443Pro)	FGR (S443P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515095	NM_005248.3(FGR):c.1322T>G (p.Val441Gly)	FGR (V441G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278705	NM_005248.3(FGR):c.1184C>T (p.Ala395Val)	FGR (A395V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2529903	NM_005248.3(FGR):c.1183G>A (p.Ala395Thr)	FGR (A395T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403783	NM_005248.3(FGR):c.980A>C (p.Glu327Ala)	FGR (E327A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293867	NM_005248.3(FGR):c.928A>T (p.Met310Leu)	FGR (M310L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590854	NM_005248.3(FGR):c.860A>C (p.Lys287Thr)	FGR (K287T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278707	NM_005248.3(FGR):c.856A>G (p.Thr286Ala)	FGR (T286A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278706	NM_005248.3(FGR):c.774C>G (p.Ile258Met)	FGR (I258M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1247746	NM_005248.3(FGR):c.762C>T (p.Asp254=)	FGR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2312463	NM_005248.3(FGR):c.675C>G (p.His225Gln)	FGR (H225Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550106	NM_005248.3(FGR):c.650A>G (p.Asn217Ser)	FGR (N217S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 769507	NM_005248.3(FGR):c.533-8C>G	FGR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2532545	NM_005248.3(FGR):c.482C>T (p.Pro161Leu)	FGR (P161L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094867	NM_005248.3(FGR):c.471G>C (p.Gln157His)	FGR (Q157H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771112	NM_005248.3(FGR):c.366C>T (p.Ser122=)	FGR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 983543	NM_005248.3(FGR):c.352C>T (p.Arg118Trp)	FGR	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2552201	NM_005248.3(FGR):c.302G>A (p.Gly101Asp)	FGR, LOC129929896 (G101D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612954	NM_005248.3(FGR):c.235G>T (p.Val79Leu)	FGR (V79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612277	NM_005248.3(FGR):c.212T>G (p.Ile71Ser)	FGR (I71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094866	NM_005248.3(FGR):c.179C>T (p.Ala60Val)	FGR (A60V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282166	NM_005248.3(FGR):c.155A>G (p.Asn52Ser)	FGR (N52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094862	NM_005248.3(FGR):c.125G>A (p.Arg42Gln)	FGR (R42Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2235250	NM_005248.3(FGR):c.88G>A (p.Ala30Thr)	FGR (A30T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094868	NM_005248.3(FGR):c.56C>T (p.Ala19Val)	FGR (A19V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 1526429	GRCh37/hg19 1p36.11-35.3(chr1:27488298-28138628)	AHDC1, CD164L2 +11 more	Copy number loss	not specified	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	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

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Items: 43