OR5H6[gene] - ClinVar

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Search results

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	LOC112935964, LOC112935965 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 149088	GRCh38/hg38 3q11.2(chr3:98023760-98332789)x1	GABRR3, LOC112935965 +10 more	Copy number loss	See cases	GLikely benign
Select item 2568780	NM_001005479.2(OR5H6):c.-1G>C	OR5H6	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2221317	NM_001005479.2(OR5H6):c.47G>T (p.Gly16Val)	OR5H6 (G16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303205	NM_001005479.2(OR5H6):c.68G>A (p.Cys23Tyr)	OR5H6 (C23Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206238	NM_001005479.2(OR5H6):c.109A>C (p.Ile37Leu)	OR5H6 (I37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345594	NM_001005479.2(OR5H6):c.119T>C (p.Met40Thr)	OR5H6 (M40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303206	NM_001005479.2(OR5H6):c.154G>A (p.Asp52Asn)	OR5H6 (D52N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362663	NM_001005479.2(OR5H6):c.236C>T (p.Pro79Leu)	OR5H6 (P79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493944	NM_001005479.2(OR5H6):c.240G>T (p.Lys80Asn)	OR5H6 (K80N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554098	NM_001005479.2(OR5H6):c.275T>C (p.Ile92Thr)	OR5H6 (I92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253601	NM_001005479.2(OR5H6):c.277T>G (p.Ser93Ala)	OR5H6 (S93A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548362	NM_001005479.2(OR5H6):c.292A>G (p.Met98Val)	OR5H6 (M98V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283864	NM_001005479.2(OR5H6):c.296T>C (p.Val99Ala)	OR5H6 (V99A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381984	NM_001005479.2(OR5H6):c.310C>T (p.Leu104Phe)	OR5H6 (L104F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2305559	NM_001005479.2(OR5H6):c.317C>T (p.Thr106Ile)	OR5H6 (T106I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2305560	NM_001005479.2(OR5H6):c.320C>G (p.Thr107Ser)	OR5H6 (T107S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2276295	NM_001005479.2(OR5H6):c.349A>T (p.Thr117Ser)	OR5H6 (T117S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2291485	NM_001005479.2(OR5H6):c.353T>A (p.Met118Lys)	OR5H6 (M118K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206239	NM_001005479.2(OR5H6):c.361G>A (p.Asp121Asn)	OR5H6 (D121N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206240	NM_001005479.2(OR5H6):c.364C>T (p.Arg122Cys)	OR5H6 (R122C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331670	NM_001005479.2(OR5H6):c.457C>T (p.Leu153Phe)	OR5H6 (L153F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454660	NM_001005479.2(OR5H6):c.466G>A (p.Ala156Thr)	OR5H6 (A156T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531489	NM_001005479.2(OR5H6):c.480A>C (p.Glu160Asp)	OR5H6 (E160D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385542	NM_001005479.2(OR5H6):c.531T>G (p.Phe177Leu)	OR5H6 (F177L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206242	NM_001005479.2(OR5H6):c.533A>T (p.Tyr178Phe)	OR5H6 (Y178F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206243	NM_001005479.2(OR5H6):c.607G>A (p.Ala203Thr)	OR5H6 (A203T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383797	NM_001005479.2(OR5H6):c.674T>C (p.Ile225Thr)	OR5H6 (I225T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318486	NM_001005479.2(OR5H6):c.693C>G (p.Ile231Met)	OR5H6 (I231M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225006	NM_001005479.2(OR5H6):c.697G>C (p.Gly233Arg)	OR5H6 (G233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206244	NM_001005479.2(OR5H6):c.740C>G (p.Ser247Cys)	OR5H6 (S247C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608964	NM_001005479.2(OR5H6):c.758G>C (p.Gly253Ala)	OR5H6 (G253A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334142	NM_001005479.2(OR5H6):c.778C>G (p.Leu260Val)	OR5H6 (L260V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2329420	NM_001005479.2(OR5H6):c.818T>C (p.Met273Thr)	OR5H6 (M273T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206245	NM_001005479.2(OR5H6):c.883A>G (p.Lys295Glu)	OR5H6 (K295E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148905	GRCh37/hg19 3q11.2(chr3:96308168-98033912)x1	GABRR3, ARL6 +9 more	Copy number loss	See cases	GUncertain significance
Select item 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 2685087	GRCh37/hg19 3q11.2(chr3:97542156-98076080)x1	CRYBG3, GABRR3 +8 more	Copy number loss	not provided	GUncertain significance
Select item 1809463	GRCh37/hg19 3q11.2(chr3:97283117-98218677)x3	ARL6, CRYBG3 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1676304	GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3	ARL13B, ARL6 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 980048	GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1	OR5AC2, GPR15 +39 more	Copy number loss	not provided	GLikely pathogenic
Select item 814466	GRCh37/hg19 3q11.2-12.1(chr3:97606054-98499715)x3	OR5H2, OR5H6 +15 more	Copy number gain	not provided	GUncertain significance
Select item 443897	GRCh37/hg19 3q11.2(chr3:97650137-98174233)x3	CRYBG3, GABRR3 +9 more	Copy number gain	See cases	GUncertain significance
Select item 442412	GRCh37/hg19 3q11.2(chr3:96579273-98216225)x3	ARL6, CRYBG3 +12 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 51