FLRT2[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ESRRB, EVL +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 149273	GRCh38/hg38 14q31.1-31.3(chr14:79330723-85885507)x3	CEP128, DIO2 +58 more	Copy number gain	See cases	GLikely pathogenic
Select item 148778	GRCh38/hg38 14q31.3(chr14:85536572-86997925)x3	FLRT2, LINC01148 +12 more	Copy number gain	See cases	GUncertain significance
Select item 2380871	NM_013231.6(FLRT2):c.82T>G (p.Ser28Ala)	FLRT2 (S28A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353495	NM_013231.6(FLRT2):c.193G>A (p.Val65Ile)	FLRT2 (V65I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236413	NM_013231.6(FLRT2):c.290G>T (p.Gly97Val)	FLRT2 (G97V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095701	NM_013231.6(FLRT2):c.368C>T (p.Thr123Ile)	FLRT2 (T123I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369717	NM_013231.6(FLRT2):c.397T>G (p.Leu133Val)	FLRT2 (L133V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298710	NM_013231.6(FLRT2):c.526G>T (p.Val176Phe)	FLRT2 (V176F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468623	NM_013231.6(FLRT2):c.596C>T (p.Ala199Val)	FLRT2 (A199V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095702	NM_013231.6(FLRT2):c.659G>C (p.Gly220Ala)	FLRT2 (G220A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518033	NM_013231.6(FLRT2):c.674C>T (p.Thr225Ile)	FLRT2 (T225I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539855	NM_013231.6(FLRT2):c.709A>T (p.Ile237Phe)	FLRT2 (I237F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095703	NM_013231.6(FLRT2):c.728C>T (p.Ser243Phe)	FLRT2 (S243F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095704	NM_013231.6(FLRT2):c.802C>T (p.Pro268Ser)	FLRT2 (P268S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257372	NM_013231.6(FLRT2):c.809C>T (p.Thr270Ile)	FLRT2 (T270I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228352	NM_013231.6(FLRT2):c.826C>T (p.Arg276Cys)	FLRT2 (R276C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095705	NM_013231.6(FLRT2):c.839G>A (p.Arg280Gln)	FLRT2 (R280Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480770	NM_013231.6(FLRT2):c.922C>T (p.Arg308Trp)	FLRT2 (R308W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768669	NM_013231.6(FLRT2):c.990A>G (p.Ser330=)	FLRT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2305752	NM_013231.6(FLRT2):c.1112C>T (p.Thr371Ile)	FLRT2 (T371I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711387	NM_013231.6(FLRT2):c.1174A>G (p.Ser392Gly)	FLRT2 (S392G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2343232	NM_013231.6(FLRT2):c.1198C>G (p.Pro400Ala)	FLRT2 (P400A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401443	NM_013231.6(FLRT2):c.1199C>T (p.Pro400Leu)	FLRT2 (P400L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517967	NM_013231.6(FLRT2):c.1220C>T (p.Thr407Met)	FLRT2 (T407M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521232	NM_013231.6(FLRT2):c.1385T>C (p.Val462Ala)	FLRT2 (V462A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095699	NM_013231.6(FLRT2):c.1409T>G (p.Ile470Arg)	FLRT2 (I470R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363454	NM_013231.6(FLRT2):c.1417G>A (p.Gly473Ser)	FLRT2 (G473S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291383	NM_013231.6(FLRT2):c.1429C>T (p.His477Tyr)	FLRT2 (H477Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590750	NM_013231.6(FLRT2):c.1568G>A (p.Ser523Asn)	FLRT2 (S523N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259094	NM_013231.6(FLRT2):c.1595C>A (p.Thr532Lys)	FLRT2 (T532K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406867	NM_013231.6(FLRT2):c.1631C>T (p.Ala544Val)	FLRT2 (A544V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095700	NM_013231.6(FLRT2):c.1649C>T (p.Ala550Val)	FLRT2 (A550V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527282	NM_013231.6(FLRT2):c.1667T>C (p.Val556Ala)	FLRT2 (V556A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458484	NM_013231.6(FLRT2):c.1712G>A (p.Arg571His)	FLRT2 (R571H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313543	NM_013231.6(FLRT2):c.1771G>T (p.Ala591Ser)	FLRT2 (A591S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545354	NM_013231.6(FLRT2):c.1904A>G (p.Asn635Ser)	FLRT2 (N635S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253218	NM_013231.6(FLRT2):c.1935G>A (p.Met645Ile)	FLRT2 (M645I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148944	GRCh37/hg19 14q24.3-31.3(chr14:79068206-87464634)x1	CEP128, DIO2 +5 more	Copy number loss	not provided	GUncertain significance
Select item 3063337	GRCh37/hg19 14q31.1-31.3(chr14:79782316-86358101)x3	CEP128, DIO2 +5 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807575	GRCh37/hg19 14q31.3-32.11(chr14:85366999-90760040)x3	FOXN3, GALC +13 more	Copy number gain	not provided	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1527830	GRCh37/hg19 14q31.2-31.3(chr14:84325247-89218538)	EML5, FLRT2 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1340751	GRCh37/hg19 14q31.3(chr14:85877031-86284754)x3	FLRT2	Copy number gain	not provided	GUncertain significance
Select item 1340580	GRCh37/hg19 14q31.3(chr14:85758978-86008595)x3	FLRT2	Copy number gain	not provided	GUncertain significance
Select item 997827	Single allele	FLRT2, GALC	Deletion	Intellectual disability	GPathogenic
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 686858	GRCh37/hg19 14q24.3-32.11(chr14:77274990-89803137)x1	ADCK1, AHSA1 +35 more	Copy number loss	not provided	GPathogenic
Select item 564136	GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1	AK7, ASB2 +74 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic

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Items: 58