F2RL3[gene] - ClinVar

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

Search results

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	LOC130063908, LOC130063909 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRL1, ADGRL1-AS1 +237 more	Copy number loss	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	LOC130064107, LOC130064108 +574 more	Copy number gain	See cases	GPathogenic
Select item 2280161	NM_003950.4(F2RL3):c.4T>C (p.Trp2Arg)	F2RL3 (W2R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406990	NM_003950.4(F2RL3):c.73G>A (p.Val25Ile)	F2RL3 (V25I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2214965	NM_003950.4(F2RL3):c.179C>T (p.Thr60Ile)	F2RL3 (T60I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2620261	NM_003950.4(F2RL3):c.202C>T (p.Arg68Trp)	F2RL3 (R68W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495841	NM_003950.4(F2RL3):c.223G>A (p.Val75Met)	F2RL3 (V75M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548099	NM_003950.4(F2RL3):c.313C>G (p.Gln105Glu)	F2RL3 (Q105E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342617	NM_003950.4(F2RL3):c.350A>G (p.Asn117Ser)	F2RL3 (N117S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1182224	NM_003950.4(F2RL3):c.358G>A (p.Ala120Thr)	F2RL3 (A120T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2309827	NM_003950.4(F2RL3):c.412C>T (p.Arg138Cys)	F2RL3 (R138C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342981	NM_003950.4(F2RL3):c.458C>T (p.Thr153Met)	F2RL3 (T153M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 779986	NM_003950.4(F2RL3):c.543G>A (p.Pro181=)	F2RL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2476786	NM_003950.4(F2RL3):c.548G>A (p.Arg183Gln)	F2RL3 (R183Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411877	NM_003950.4(F2RL3):c.557C>G (p.Ala186Gly)	F2RL3 (A186G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360207	NM_003950.4(F2RL3):c.656G>A (p.Arg219Gln)	F2RL3 (R219Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209444	NM_003950.4(F2RL3):c.659T>G (p.Leu220Arg)	F2RL3 (L220R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232049	NM_003950.4(F2RL3):c.664C>T (p.Arg222Cys)	F2RL3 (R222C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339773	NM_003950.4(F2RL3):c.691G>A (p.Ala231Thr)	F2RL3 (A231T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602613	NM_003950.4(F2RL3):c.692C>T (p.Ala231Val)	F2RL3 (A231V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2273747	NM_003950.4(F2RL3):c.760T>A (p.Phe254Ile)	F2RL3 (F254I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 714781	NM_003950.4(F2RL3):c.771G>T (p.Leu257=)	F2RL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2495047	NM_003950.4(F2RL3):c.800C>T (p.Thr267Ile)	F2RL3 (T267I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219907	NM_003950.4(F2RL3):c.823G>A (p.Gly275Ser)	F2RL3 (G275S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265995	NM_003950.4(F2RL3):c.849G>C (p.Arg283Ser)	F2RL3 (R283S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407935	NM_003950.4(F2RL3):c.946G>A (p.Gly316Ser)	F2RL3 (G316S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789853	NM_003950.4(F2RL3):c.966C>T (p.Tyr322=)	F2RL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2278659	NM_003950.4(F2RL3):c.1003G>A (p.Val335Met)	F2RL3 (V335M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548593	NM_003950.4(F2RL3):c.1072C>T (p.Arg358Trp)	F2RL3 (R358W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280430	NM_003950.4(F2RL3):c.1079C>G (p.Pro360Arg)	F2RL3 (P360R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312040	NM_003950.4(F2RL3):c.1105T>C (p.Ser369Pro)	F2RL3 (S369P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785617	NM_003950.4(F2RL3):c.1110G>A (p.Ala370=)	F2RL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2473297	NM_003950.4(F2RL3):c.1138C>T (p.His380Tyr)	F2RL3 (H380Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 147597	GRCh38/hg38 19p13.11(chr19:16892429-16926210)x1	CPAMD8, F2RL3 +6 more	Copy number loss	See cases	GBenign
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 3062387	GRCh37/hg19 19p13.11(chr19:16857649-17423590)x3	NR2F6, NWD1 +13 more	Copy number gain	not specified	GUncertain significance
Select item 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 688037	GRCh37/hg19 19p13.11(chr19:16875725-17477318)x1	ABHD8, ANKLE1 +16 more	Copy number loss	not provided	GUncertain significance
Select item 560145	Single allele	ABHD8, ANKLE1 +16 more	Duplication	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442665	GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1	ABHD8, ANKLE1 +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 424641	GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1	HSH2D, KLF2 +46 more	Copy number loss	not provided	GPathogenic
Select item 253857	GRCh37/hg19 19p13.11(chr19:17001280-17536087)x3	ABHD8, ANKLE1 +16 more	Copy number gain	See cases	GUncertain significance

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: 48