OR9A4[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 144163	GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3	AGK, AGK-DT +192 more	Copy number gain	See cases	GPathogenic
Select item 3206870	NM_001001656.3(OR9A4):c.169C>G (p.Pro57Ala)	OR9A4 (P57A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303468	NM_001001656.3(OR9A4):c.173T>A (p.Met58Lys)	OR9A4 (M58K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475202	NM_001001656.3(OR9A4):c.187G>A (p.Gly63Ser)	OR9A4 (G63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303469	NM_001001656.3(OR9A4):c.247G>A (p.Gly83Arg)	OR9A4 (G83R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206871	NM_001001656.3(OR9A4):c.276A>G (p.Ile92Met)	OR9A4 (I92M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206872	NM_001001656.3(OR9A4):c.278A>T (p.Tyr93Phe)	OR9A4 (Y93F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485338	NM_001001656.3(OR9A4):c.278A>G (p.Tyr93Cys)	OR9A4 (Y93C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550605	NM_001001656.3(OR9A4):c.329C>T (p.Thr110Ile)	OR9A4 (T110I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487910	NM_001001656.3(OR9A4):c.373G>A (p.Ala125Thr)	OR9A4 (A125T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303467	NM_001001656.3(OR9A4):c.377T>G (p.Val126Gly)	OR9A4 (V126G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206873	NM_001001656.3(OR9A4):c.452T>C (p.Phe151Ser)	OR9A4 (F151S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523997	NM_001001656.3(OR9A4):c.542G>C (p.Arg181Pro)	OR9A4 (R181P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206874	NM_001001656.3(OR9A4):c.599T>A (p.Phe200Tyr)	OR9A4 (F200Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532392	NM_001001656.3(OR9A4):c.613T>C (p.Phe205Leu)	OR9A4 (F205L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241859	NM_001001656.3(OR9A4):c.673A>G (p.Ile225Val)	OR9A4 (I225V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206875	NM_001001656.3(OR9A4):c.700C>G (p.Arg234Gly)	OR9A4 (R234G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399894	NM_001001656.3(OR9A4):c.727T>G (p.Ser243Ala)	OR9A4 (S243A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356547	NM_001001656.3(OR9A4):c.727T>C (p.Ser243Pro)	OR9A4 (S243P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206876	NM_001001656.3(OR9A4):c.788A>G (p.Lys263Arg)	OR9A4 (K263R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485750	NM_001001656.3(OR9A4):c.889G>A (p.Val297Ile)	OR9A4 (V297I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240834	NM_001001656.3(OR9A4):c.920G>T (p.Arg307Leu)	OR9A4 (R307L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557130	NM_001001656.3(OR9A4):c.939G>C (p.Arg313Ser)	OR9A4 (R313S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245750	NC_000007.13:g.(?_140434397)_(141759786_?)del	AGK, BRAF +13 more	Deletion	Sengers syndrome +1 more	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3024642	GRCh37/hg19 7q34(chr7:140426294-141883173)x1	AGK, BRAF +13 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	NDUFB2, NOBOX +125 more	Copy number loss	not provided	GPathogenic
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2425073	NC_000007.13:g.(?_138391369)_(141759786_?)del	SSBP1, TAS2R3 +34 more	Deletion	not provided	GPathogenic
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1450681	NC_000007.13:g.(?_137761265)_(141759786_?)dup	ADCK2, AGK +37 more	Duplication	not provided	GUncertain significance
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	EPHA1, EPHB6 +105 more	Copy number loss	Hypertelorism +7 more	GPathogenic
Select item 973567	NC_000007.13:g.141443350_142460881dup	CLEC5A, MGAM +11 more	Duplication	Hereditary pancreatitis	GPathogenic
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442595	GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1	ABCB8, ABCF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic

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Items: 68