ClinVar for Gene (Select 390437) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302953	NM_001004724.2(OR4N5):c.913C>T (p.His305Tyr)	OR4N5 (H305Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302952	NM_001004724.2(OR4N5):c.346G>A (p.Val116Ile)	OR4N5 (V116I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302951	NM_001004724.2(OR4N5):c.770T>C (p.Ile257Thr)	OR4N5 (I257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302950	NM_001004724.2(OR4N5):c.346G>C (p.Val116Leu)	OR4N5 (V116L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205672	NM_001004724.2(OR4N5):c.439G>A (p.Val147Ile)	OR4N5 (V147I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205671	NM_001004724.2(OR4N5):c.365G>T (p.Arg122Leu)	OR4N5 (R122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205670	NM_001004724.2(OR4N5):c.365G>A (p.Arg122His)	OR4N5 (R122H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205669	NM_001004724.2(OR4N5):c.356C>A (p.Ala119Asp)	OR4N5 (A119D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205668	NM_001004724.2(OR4N5):c.172C>G (p.Pro58Ala)	OR4N5 (P58A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205667	NM_001004724.2(OR4N5):c.115C>G (p.Leu39Val)	OR4N5 (L39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063333	GRCh37/hg19 14q11.2(chr14:20511672-20903963)x3	CCNB1IP1, KLHL33 +10 more	Copy number gain	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2622530	NM_001004724.2(OR4N5):c.463C>T (p.His155Tyr)	OR4N5 (H155Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610720	NM_001004724.2(OR4N5):c.563C>T (p.Ala188Val)	OR4N5 (A188V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590361	NM_001004724.2(OR4N5):c.484C>T (p.Leu162Phe)	OR4N5 (L162F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590127	NM_001004724.2(OR4N5):c.559C>G (p.Leu187Val)	OR4N5 (L187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588546	NM_001004724.2(OR4N5):c.598G>A (p.Val200Ile)	OR4N5 (V200I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540029	NM_001004724.2(OR4N5):c.433T>C (p.Ser145Pro)	OR4N5 (S145P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491848	NM_001004724.2(OR4N5):c.136A>G (p.Ile46Val)	OR4N5 (I46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491475	NM_001004724.2(OR4N5):c.519G>T (p.Gln173His)	OR4N5 (Q173H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485729	NM_001004724.2(OR4N5):c.532T>G (p.Phe178Val)	OR4N5 (F178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404700	NM_001004724.2(OR4N5):c.865C>T (p.Leu289Phe)	OR4N5 (L289F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329277	NM_001004724.2(OR4N5):c.621C>A (p.Ser207Arg)	OR4N5 (S207R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312902	NM_001004724.2(OR4N5):c.85G>T (p.Val29Leu)	OR4N5 (V29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305650	NM_001004724.2(OR4N5):c.722C>T (p.Thr241Ile)	OR4N5 (T241I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292092	NM_001004724.2(OR4N5):c.411C>A (p.Asn137Lys)	OR4N5 (N137K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281897	NM_001004724.2(OR4N5):c.325G>A (p.Ala109Thr)	OR4N5 (A109T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221882	NM_001004724.2(OR4N5):c.370A>C (p.Ile124Leu)	OR4N5 (I124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214588	NM_001004724.2(OR4N5):c.422G>A (p.Cys141Tyr)	OR4N5 (C141Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1341750	NC_000014.9:g.20013858_20436718dup	CCNB1IP1, KLHL33 +24 more	Duplication	14q11.2 microduplication syndrome	GUncertain significance
Select item 980000	GRCh37/hg19 14q11.2(chr14:20511672-21915516)x1	ANG, APEX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 687535	GRCh37/hg19 14q11.2(chr14:20511672-20903963)x3	CCNB1IP1, KLHL33 +10 more	Copy number gain	not provided	GUncertain significance
Select item 685568	GRCh37/hg19 14q11.2(chr14:20511672-21174548)x3	ANG, APEX1 +25 more	Copy number gain	not provided	GUncertain significance
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic
Select item 157299	Single allele	LOC101929572, OR11H12 +15 more	Duplication	Normal pregnancy	Gnot provided
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 more	Copy number gain	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

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Germline classification

Types of conflicts

Molecular consequence

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Links from Gene

Items: 48