ClinVar for Gene (Select 441308) - ClinVar

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

Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384213	Single allele	AGPAT5, ANGPT2 +180 more	Deletion	Recombinant 8 syndrome	GPathogenic
Select item 3302899	NM_001005504.1(OR4F21):c.179A>C (p.Tyr60Ser)	OR4F21 (Y60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205576	NM_001005504.1(OR4F21):c.933C>G (p.Ile311Met)	OR4F21 (I311M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205575	NM_001005504.1(OR4F21):c.853G>A (p.Val285Ile)	OR4F21 (V285I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205574	NM_001005504.1(OR4F21):c.751T>G (p.Phe251Val)	OR4F21 (F251V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205573	NM_001005504.1(OR4F21):c.452T>C (p.Leu151Pro)	OR4F21 (L151P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205572	NM_001005504.1(OR4F21):c.266G>A (p.Arg89His)	OR4F21 (R89H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2658287	NM_001005504.1(OR4F21):c.186A>C (p.Leu62=)	OR4F21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604247	NM_001005504.1(OR4F21):c.541C>T (p.Leu181Phe)	OR4F21 (L181F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580354	GRCh37/hg19 8p23.3-23.1(chr8:10501-6614959)x1	TDRP, ZNF596 +12 more	Copy number loss	See cases	GLikely pathogenic
Select item 2580328	GRCh37/hg19 8p23.3-23.1(chr8:10501-11142629)x1	AGPAT5, ANGPT2 +55 more	Copy number loss	See cases	GPathogenic
Select item 2522667	NM_001005504.1(OR4F21):c.517G>A (p.Val173Met)	OR4F21 (V173M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517512	NM_001005504.1(OR4F21):c.737T>G (p.Val246Gly)	OR4F21 (V246G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515621	NM_001005504.1(OR4F21):c.527G>C (p.Ser176Thr)	OR4F21 (S176T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484030	NM_001005504.1(OR4F21):c.200C>T (p.Ser67Phe)	OR4F21 (S67F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465251	NM_001005504.1(OR4F21):c.547C>T (p.Arg183Trp)	OR4F21 (R183W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457307	NM_001005504.1(OR4F21):c.265C>T (p.Arg89Cys)	OR4F21 (R89C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408208	NM_001005504.1(OR4F21):c.248A>G (p.Tyr83Cys)	OR4F21 (Y83C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364704	NM_001005504.1(OR4F21):c.395A>G (p.Tyr132Cys)	OR4F21 (Y132C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358085	NM_001005504.1(OR4F21):c.455G>C (p.Gly152Ala)	OR4F21 (G152A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352026	NM_001005504.1(OR4F21):c.383A>G (p.Lys128Arg)	OR4F21 (K128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346974	NM_001005504.1(OR4F21):c.929A>G (p.Lys310Arg)	OR4F21 (K310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346046	NM_001005504.1(OR4F21):c.474C>G (p.Phe158Leu)	OR4F21 (F158L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343404	NM_001005504.1(OR4F21):c.655G>A (p.Val219Ile)	OR4F21 (V219I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2336424	NM_001005504.1(OR4F21):c.379T>C (p.Cys127Arg)	OR4F21 (C127R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335458	NM_001005504.1(OR4F21):c.562G>A (p.Ala188Thr)	OR4F21 (A188T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333242	NM_001005504.1(OR4F21):c.306C>G (p.Phe102Leu)	OR4F21 (F102L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322561	NM_001005504.1(OR4F21):c.276C>G (p.Ile92Met)	OR4F21 (I92M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276940	NM_001005504.1(OR4F21):c.835A>G (p.Thr279Ala)	OR4F21 (T279A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228906	NM_001005504.1(OR4F21):c.380G>T (p.Cys127Phe)	OR4F21 (C127F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330178	GRCh37/hg19 8p23.3-23.1(chr8:10501-7214947)x1	FBXO25, USP17L4 +22 more	Copy number loss	Single transverse palmar crease +6 more	GPathogenic
Select item 152002	GRCh38/hg38 8p23.3(chr8:137572-171006)x3	OR4F21	Copy number gain	See cases	GBenign
Select item 144954	GRCh38/hg38 8p23.3(chr8:90247-178199)x3	LOC101927506, OR4F21	Copy number gain	See cases	GBenign
Select item 144951	GRCh38/hg38 8p23.3(chr8:90247-195465)x3	LOC101927506, OR4F21	Copy number gain	See cases	GBenign
Select item 144945	GRCh38/hg38 8p23.3(chr8:137572-178199)x1	OR4F21	Copy number loss	See cases	GBenign
Select item 144944	GRCh38/hg38 8p23.3(chr8:137572-178199)x3	OR4F21	Copy number gain	See cases	GBenign
Select item 59736	GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3	AGPAT5, ANGPT2 +380 more	Copy number gain	See cases	GPathogenic
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 38