ClinVar for Gene (Select 390436) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302920	NM_001004715.5(OR4K17):c.241G>T (p.Val81Leu)	OR4K17 (V81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302919	NM_001004715.5(OR4K17):c.326G>A (p.Gly109Glu)	OR4K17 (G109E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302918	NM_001004715.5(OR4K17):c.781C>T (p.Pro261Ser)	OR4K17 (P261S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302917	NM_001004715.5(OR4K17):c.95C>T (p.Ser32Leu)	OR4K17 (S32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302916	NM_001004715.5(OR4K17):c.191G>A (p.Gly64Asp)	OR4K17 (G64D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205621	NM_001004715.5(OR4K17):c.-6G>A	OR4K17	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3205620	NM_001004715.5(OR4K17):c.782C>A (p.Pro261His)	OR4K17 (P261H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205619	NM_001004715.5(OR4K17):c.618C>G (p.Ile206Met)	OR4K17 (I206M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205618	NM_001004715.5(OR4K17):c.515A>G (p.Asn172Ser)	OR4K17 (N172S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205617	NM_001004715.5(OR4K17):c.472T>C (p.Phe158Leu)	OR4K17 (F158L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3205616	NM_001004715.5(OR4K17):c.377T>C (p.Ile126Thr)	OR4K17 (I126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205615	NM_001004715.5(OR4K17):c.272T>G (p.Val91Gly)	OR4K17 (V91G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205614	NM_001004715.5(OR4K17):c.49C>A (p.Leu17Met)	OR4K17 (L17M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205613	NM_001004715.5(OR4K17):c.31G>A (p.Glu11Lys)	OR4K17 (E11K)	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 2601972	NM_001004715.5(OR4K17):c.-21G>A	OR4K17	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2557200	NM_001004715.5(OR4K17):c.-29A>G	OR4K17	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2555856	NM_001004715.5(OR4K17):c.542T>C (p.Leu181Pro)	OR4K17 (L181P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546506	NM_001004715.5(OR4K17):c.797C>G (p.Ser266Cys)	OR4K17 (S266C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531376	NM_001004715.5(OR4K17):c.179A>G (p.Tyr60Cys)	OR4K17 (Y60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513724	NM_001004715.5(OR4K17):c.814G>C (p.Ala272Pro)	OR4K17 (A272P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493742	NM_001004715.5(OR4K17):c.122G>A (p.Gly41Asp)	OR4K17 (G41D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485728	NM_001004715.5(OR4K17):c.418G>C (p.Val140Leu)	OR4K17 (V140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483172	NM_001004715.5(OR4K17):c.-32-26G>C	OR4K17	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2470510	NM_001004715.5(OR4K17):c.311T>C (p.Leu104Pro)	OR4K17 (L104P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467784	NM_001004715.5(OR4K17):c.380G>T (p.Cys127Phe)	OR4K17 (C127F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465510	NM_001004715.5(OR4K17):c.569T>C (p.Ile190Thr)	OR4K17 (I190T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389786	NM_001004715.5(OR4K17):c.-32-24G>A	OR4K17	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2373545	NM_001004715.5(OR4K17):c.622C>A (p.Leu208Met)	OR4K17 (L208M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367662	NM_001004715.5(OR4K17):c.17A>T (p.Gln6Leu)	OR4K17 (Q6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359896	NM_001004715.5(OR4K17):c.824A>G (p.Tyr275Cys)	OR4K17 (Y275C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336879	NM_001004715.5(OR4K17):c.826A>G (p.Thr276Ala)	OR4K17 (T276A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306407	NM_001004715.5(OR4K17):c.392A>G (p.His131Arg)	OR4K17 (H131R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303705	NM_001004715.5(OR4K17):c.331G>A (p.Glu111Lys)	OR4K17 (E111K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297718	NM_001004715.5(OR4K17):c.873C>G (p.Asn291Lys)	OR4K17 (N291K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297100	NM_001004715.5(OR4K17):c.869G>T (p.Arg290Ile)	OR4K17 (R290I)	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 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

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Links from Gene

Items: 55