ClinVar for Gene (Select 390148) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303273	NM_001001960.1(OR5W2):c.898G>A (p.Ala300Thr)	OR5W2 (A300T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303272	NM_001001960.1(OR5W2):c.140T>C (p.Val47Ala)	OR5W2 (V47A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206426	NM_001001960.1(OR5W2):c.836C>T (p.Thr279Ile)	OR5W2 (T279I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206425	NM_001001960.1(OR5W2):c.805G>A (p.Asp269Asn)	OR5W2 (D269N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206424	NM_001001960.1(OR5W2):c.710C>A (p.Ala237Asp)	OR5W2 (A237D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206422	NM_001001960.1(OR5W2):c.323C>T (p.Ala108Val)	OR5W2 (A108V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206421	NM_001001960.1(OR5W2):c.214T>C (p.Cys72Arg)	OR5W2 (C72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206420	NM_001001960.1(OR5W2):c.153G>A (p.Met51Ile)	OR5W2 (M51I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2594870	NM_001001960.1(OR5W2):c.703T>A (p.Phe235Ile)	OR5W2 (F235I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591365	NM_001001960.1(OR5W2):c.464A>G (p.Asp155Gly)	OR5W2 (D155G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533823	NM_001001960.1(OR5W2):c.85G>C (p.Ala29Pro)	OR5W2 (A29P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508602	NM_001001960.1(OR5W2):c.709G>A (p.Ala237Thr)	OR5W2 (A237T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507964	NM_001001960.1(OR5W2):c.506G>T (p.Cys169Phe)	OR5W2 (C169F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492808	NM_001001960.1(OR5W2):c.716C>T (p.Ser239Phe)	OR5W2 (S239F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488911	NM_001001960.1(OR5W2):c.166C>T (p.His56Tyr)	OR5W2 (H56Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479593	NM_001001960.1(OR5W2):c.74T>A (p.Val25Glu)	OR5W2 (V25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402329	NM_001001960.1(OR5W2):c.341T>C (p.Leu114Pro)	OR5W2 (L114P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368161	NM_001001960.1(OR5W2):c.442G>T (p.Val148Phe)	OR5W2 (V148F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348908	NM_001001960.1(OR5W2):c.782G>A (p.Arg261Gln)	OR5W2 (R261Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294421	NM_001001960.1(OR5W2):c.415A>G (p.Arg139Gly)	OR5W2 (R139G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283731	NM_001001960.1(OR5W2):c.757G>A (p.Gly253Arg)	OR5W2 (G253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233242	NM_001001960.1(OR5W2):c.144A>T (p.Leu48Phe)	OR5W2 (L48F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218577	NM_001001960.1(OR5W2):c.526C>T (p.His176Tyr)	OR5W2 (H176Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340449	GRCh37/hg19 11p11.12-q12.1(chr11:51164494-56879839)x3	OR10AG1, OR4A15 +47 more	Copy number gain	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 684481	Single allele	APLNR, BTBD18 +67 more	Duplication	not provided	Gnot provided
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 442071	GRCh37/hg19 11p11.12-q12.1(chr11:51183548-56977098)x3	LRRC55, OR10AG1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 395409	GRCh37/hg19 11q11-12.1(chr11:55033164-55980347)x3	OR10AG1, OR4A15 +25 more	Copy number gain	See cases	GBenign
Select item 395111	GRCh37/hg19 11q11-12.1(chr11:55029738-55980347)x3	OR10AG1, OR4A15 +25 more	Copy number gain	See cases	GBenign
Select item 161063	GRCh38/hg38 11q11-12.1(chr11:55319519-56212930)x3	LOC126861207, OR10AG1 +27 more	Copy number gain	See cases	GBenign
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 152667	GRCh38/hg38 11q11-12.1(chr11:55316535-57539457)x3	APLNR, LINC02735 +86 more	Copy number gain	See cases	GUncertain significance
Select item 145000	GRCh38/hg38 11q11-12.1(chr11:55265785-56230226)x3	LOC126861207, OR10AG1 +28 more	Copy number gain	See cases	GBenign
Select item 57245	GRCh38/hg38 11q11-12.1(chr11:55445689-57114783)x1	LINC02735, LOC126861207 +50 more	Copy number loss	See cases	GBenign
Select item 32870	GRCh38/hg38 11q11-12.1(chr11:55319519-56212930)x3	LOC126861207, OR10AG1 +27 more	Copy number gain	See cases	GBenign

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Links from Gene

Items: 41