Related gene-specific medical variations for Gene (Select 10788) - ClinVar

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Links from Gene

Items: 27

	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)	IQGAP2, F2RL2 (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 979683	GRCh37/hg19 5q13.3(chr5:75712233-75878333)x1	IQGAP2	Copy number loss	not provided	GLikely benign
Select item 686836	GRCh37/hg19 5q13.3(chr5:75718073-75873569)x1	IQGAP2	Copy number loss	not provided	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

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Links from Gene

Items: 27