ClinVar for Gene (Select 283189) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303475	NM_001005284.2(OR9G4):c.748C>T (p.Leu250Phe)	OR9G4 (L250F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303474	NM_001005284.2(OR9G4):c.478A>G (p.Thr160Ala)	OR9G4 (T160A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206892	NM_001005284.2(OR9G4):c.1A>C (p.Met1Leu)	OR9G4 (M1L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206891	NM_001005284.2(OR9G4):c.365G>A (p.Arg122His)	OR9G4 (R122H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206889	NM_001005284.2(OR9G4):c.173C>T (p.Pro58Leu)	OR9G4 (P58L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206888	NM_001005284.2(OR9G4):c.149G>A (p.Arg50Gln)	OR9G4 (R50Q)	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 2623479	NM_001005284.2(OR9G4):c.811G>A (p.Asp271Asn)	OR9G4 (D271N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620273	NM_001005284.2(OR9G4):c.745A>T (p.Met249Leu)	OR9G4 (M249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552989	NM_001005284.2(OR9G4):c.62C>T (p.Ser21Phe)	OR9G4 (S21F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541216	NM_001005284.2(OR9G4):c.484A>C (p.Asn162His)	OR9G4 (N162H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464012	NM_001005284.2(OR9G4):c.925C>A (p.Gln309Lys)	OR9G4 (Q309K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461531	NM_001005284.2(OR9G4):c.472G>A (p.Ala158Thr)	OR9G4 (A158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395292	NM_001005284.2(OR9G4):c.188T>C (p.Ile63Thr)	OR9G4 (I63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382477	NM_001005284.2(OR9G4):c.271C>T (p.Arg91Cys)	OR9G4 (R91C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374210	NM_001005284.2(OR9G4):c.661A>G (p.Ile221Val)	OR9G4 (I221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373618	NM_001005284.2(OR9G4):c.-6G>A	OR9G4	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2370257	NM_001005284.2(OR9G4):c.469A>G (p.Ile157Val)	OR9G4 (I157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368175	NM_001005284.2(OR9G4):c.481G>A (p.Ala161Thr)	OR9G4 (A161T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346487	NM_001005284.2(OR9G4):c.295G>A (p.Ala99Thr)	OR9G4 (A99T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344320	NM_001005284.2(OR9G4):c.380G>A (p.Cys127Tyr)	OR9G4 (C127Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340095	NM_001005284.2(OR9G4):c.542C>A (p.Ala181Glu)	OR9G4 (A181E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322806	NM_001005284.2(OR9G4):c.670G>T (p.Ala224Ser)	OR9G4 (A224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312388	NM_001005284.2(OR9G4):c.298C>G (p.Gln100Glu)	OR9G4 (Q100E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311579	NM_001005284.2(OR9G4):c.530T>G (p.Phe177Cys)	OR9G4 (F177C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269503	NM_001005284.2(OR9G4):c.644T>C (p.Leu215Pro)	OR9G4 (L215P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260954	NM_001005284.2(OR9G4):c.562T>A (p.Ser188Thr)	OR9G4 (S188T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234252	NM_001005284.2(OR9G4):c.250A>G (p.Ser84Gly)	OR9G4 (S84G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231059	NM_001005284.2(OR9G4):c.815A>G (p.Lys272Arg)	OR9G4 (K272R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215805	NM_001005284.2(OR9G4):c.74C>T (p.Pro25Leu)	OR9G4 (P25L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2214883	NM_001005284.2(OR9G4):c.433G>A (p.Val145Ile)	OR9G4 (V145I)	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 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 145380	GRCh38/hg38 11q12.1(chr11:56149822-56770518)x3	LOC126861207, MIR6128 +23 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

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Links from Gene

Items: 44