F2R[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 3038746	NM_001992.5(F2R):c.-69G>A	F2R	Single nucleotide variant (5 prime UTR variant)	F2R-related condition	GBenign
Select item 3091426	NM_001992.5(F2R):c.29C>T (p.Ala10Val)	F2R (A10V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 714950	NM_001992.5(F2R):c.114A>G (p.Leu38=)	F2R	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3091427	NM_001992.5(F2R):c.361A>G (p.Ile121Val)	F2R (I121V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3091428	NM_001992.5(F2R):c.370A>G (p.Ile124Val)	F2R (I124V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091429	NM_001992.5(F2R):c.373G>C (p.Val125Leu)	F2R (V125L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781997	NM_001992.5(F2R):c.516T>G (p.Ser172=)	F2R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2389455	NM_001992.5(F2R):c.592A>G (p.Ile198Val)	F2R (I198V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091431	NM_001992.5(F2R):c.626A>G (p.Gln209Arg)	F2R (Q209R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620845	NM_001992.5(F2R):c.640C>A (p.Arg214Ser)	F2R (R214S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598524	NM_001992.5(F2R):c.665C>T (p.Thr222Ile)	F2R (T222I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770163	NM_001992.5(F2R):c.738G>A (p.Val246=)	F2R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2558441	NM_001992.5(F2R):c.772C>T (p.Leu258Phe)	F2R (L258F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091432	NM_001992.5(F2R):c.790G>A (p.Glu264Lys)	F2R (E264K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752650	NM_001992.5(F2R):c.798C>T (p.Tyr266=)	F2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614425	NM_001992.5(F2R):c.802G>T (p.Ala268Ser)	F2R (A147S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785127	NM_001992.5(F2R):c.1142A>G (p.Tyr381Cys)	F2R (Y260C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3091425	NM_001992.5(F2R):c.1151G>C (p.Ser384Thr)	F2R (S263T +1 more)	Single nucleotide variant (missense variant)	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 687378	GRCh37/hg19 5q13.3(chr5:75327560-76140898)x1	F2R, F2RL1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +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

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Items: 25