F2RL2[gene] - ClinVar

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

Search results

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 2272119	NM_004101.4(F2RL2):c.1060G>A (p.Asp354Asn)	F2RL2, IQGAP2 (D354N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276962	NM_004101.4(F2RL2):c.1000G>A (p.Asp334Asn)	F2RL2, IQGAP2 (D334N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551400	NM_004101.4(F2RL2):c.944C>T (p.Ala315Val)	F2RL2, IQGAP2 (A293V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489971	NM_004101.4(F2RL2):c.904G>A (p.Ala302Thr)	F2RL2, IQGAP2 (A280T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091440	NM_004101.4(F2RL2):c.880C>T (p.His294Tyr)	F2RL2, IQGAP2 (H272Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513200	NM_004101.4(F2RL2):c.877G>T (p.Asp293Tyr)	F2RL2, IQGAP2 (D271Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489316	NM_004101.4(F2RL2):c.839A>G (p.Tyr280Cys)	F2RL2, IQGAP2 (Y258C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239978	NM_004101.4(F2RL2):c.784T>G (p.Tyr262Asp)	F2RL2, IQGAP2 (Y240D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276964	NM_004101.4(F2RL2):c.686T>C (p.Phe229Ser)	F2RL2, IQGAP2 (F229S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554479	NM_004101.4(F2RL2):c.670T>C (p.Tyr224His)	F2RL2, IQGAP2 (Y202H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091438	NM_004101.4(F2RL2):c.578T>C (p.Leu193Pro)	F2RL2, IQGAP2 (L193P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247011	NM_004101.4(F2RL2):c.554C>T (p.Ala185Val)	F2RL2, IQGAP2 (A163V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091437	NM_004101.4(F2RL2):c.503C>A (p.Ala168Asp)	F2RL2, IQGAP2 (A168D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489268	NM_004101.4(F2RL2):c.503C>G (p.Ala168Gly)	F2RL2, IQGAP2 (A146G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466105	NM_004101.4(F2RL2):c.403C>G (p.Leu135Val)	F2RL2, IQGAP2 (L135V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339093	NM_004101.4(F2RL2):c.379T>C (p.Cys127Arg)	F2RL2, IQGAP2 (C105R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341780	NM_004101.4(F2RL2):c.230A>G (p.His77Arg)	F2RL2, IQGAP2 (H55R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091436	NM_004101.4(F2RL2):c.222T>G (p.Ser74Arg)	F2RL2, IQGAP2 (S52R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313227	NM_004101.4(F2RL2):c.205A>G (p.Lys69Glu)	F2RL2, IQGAP2 (K47E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383493	NM_004101.4(F2RL2):c.188C>T (p.Thr63Met)	F2RL2, IQGAP2 (T41M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370541	NM_004101.4(F2RL2):c.173G>A (p.Gly58Asp)	F2RL2, IQGAP2 (G36D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 587553	NM_004101.4(F2RL2):c.160del (p.Ser54fs)	F2RL2, IQGAP2 (S32fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2387618	NM_004101.4(F2RL2):c.134C>T (p.Pro45Leu)	F2RL2, IQGAP2 (P45L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609858	NM_004101.4(F2RL2):c.127G>A (p.Ala43Thr)	F2RL2, IQGAP2 (A21T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594178	NM_004101.4(F2RL2):c.121C>T (p.Arg41Cys)	F2RL2, IQGAP2 (R19C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 688569	GRCh37/hg19 5q13.3(chr5:75827808-75913305)x1	F2RL2, IQGAP2	Copy number loss	not provided	GUncertain significance
Select item 687378	GRCh37/hg19 5q13.3(chr5:75327560-76140898)x1	F2R, F2RL1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 686420	GRCh37/hg19 5q13.3(chr5:75827808-75914307)x1	F2RL2, IQGAP2	Copy number loss	not provided	GUncertain significance
Select item 685417	GRCh37/hg19 5q13.3(chr5:75795446-75932329)x1	F2RL2, IQGAP2	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563079	GRCh37/hg19 5q13.3(chr5:75243653-75997611)x1	F2RL2, SV2C +1 more	Copy number loss	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	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

Search results

Items: 36