F2RL1[gene] - ClinVar

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Items: 31

	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 789180	NM_005242.6(F2RL1):c.4C>A (p.Arg2=)	F2RL1, LOC123497914	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2473370	NM_005242.6(F2RL1):c.5G>A (p.Arg2Gln)	F2RL1, LOC123497914 (R2Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350675	NM_005242.6(F2RL1):c.14G>C (p.Ser5Thr)	F2RL1, LOC123497914 (S5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461016	NM_005242.6(F2RL1):c.52G>T (p.Ala18Ser)	F2RL1, LOC123497914 (A18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590215	NM_005242.6(F2RL1):c.88A>G (p.Ser30Gly)	F2RL1 (S30G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319674	NM_005242.6(F2RL1):c.167A>G (p.Glu56Gly)	F2RL1 (E56G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212251	NM_005242.6(F2RL1):c.260T>C (p.Val87Ala)	F2RL1 (V87A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380829	NM_005242.6(F2RL1):c.280G>A (p.Gly94Ser)	F2RL1 (G94S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311790	NM_005242.6(F2RL1):c.292T>G (p.Trp98Gly)	F2RL1 (W98G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455627	NM_005242.6(F2RL1):c.377T>C (p.Ile126Thr)	F2RL1 (I126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393584	NM_005242.6(F2RL1):c.562G>A (p.Ala188Thr)	F2RL1 (A188T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381977	NM_005242.6(F2RL1):c.565A>G (p.Asn189Asp)	F2RL1 (N189D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361997	NM_005242.6(F2RL1):c.592A>G (p.Ile198Val)	F2RL1 (I198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091433	NM_005242.6(F2RL1):c.692C>T (p.Pro231Leu)	F2RL1 (P231L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091434	NM_005242.6(F2RL1):c.706G>A (p.Val236Met)	F2RL1 (V236M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471053	NM_005242.6(F2RL1):c.706G>C (p.Val236Leu)	F2RL1 (V236L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091435	NM_005242.6(F2RL1):c.714C>G (p.Asp238Glu)	F2RL1 (D238E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287832	NM_005242.6(F2RL1):c.743T>C (p.Ile248Thr)	F2RL1 (I248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276960	NM_005242.6(F2RL1):c.817G>A (p.Ala273Thr)	F2RL1 (A273T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276961	NM_005242.6(F2RL1):c.851G>A (p.Arg284Lys)	F2RL1 (R284K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465447	NM_005242.6(F2RL1):c.914T>A (p.Leu305His)	F2RL1 (L305H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539778	NM_005242.6(F2RL1):c.1078C>T (p.Leu360Phe)	F2RL1 (L360F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718860	NM_005242.6(F2RL1):c.1089T>C (p.Ser363=)	F2RL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2424719	NC_000005.9:g.(?_76115008)_(78281071_?)del	AGGF1, AP3B1 +11 more	Deletion	Hermansky-Pudlak syndrome 2	GPathogenic
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	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

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Items: 31