ClinVar for Gene (Select 2151) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 36