OR5H15[gene] - ClinVar

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Search results

Items: 47

	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 2313909	NM_001005515.2(OR5H15):c.17C>A (p.Ala6Glu)	OR5H15 (A6E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206230	NM_001005515.2(OR5H15):c.82T>C (p.Phe28Leu)	OR5H15 (F28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315876	NM_001005515.2(OR5H15):c.98T>C (p.Val33Ala)	OR5H15 (V33A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303203	NM_001005515.2(OR5H15):c.115A>G (p.Ile39Val)	OR5H15 (I39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559188	NM_001005515.2(OR5H15):c.209A>G (p.Asp70Gly)	OR5H15 (D70G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206222	NM_001005515.2(OR5H15):c.235C>T (p.Pro79Ser)	OR5H15 (P79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590638	NM_001005515.2(OR5H15):c.286G>C (p.Glu96Gln)	OR5H15 (E96Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405380	NM_001005515.2(OR5H15):c.314C>T (p.Ala105Val)	OR5H15 (A105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236743	NM_001005515.2(OR5H15):c.320G>C (p.Gly107Ala)	OR5H15 (G107A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610316	NM_001005515.2(OR5H15):c.335G>A (p.Cys112Tyr)	OR5H15 (C112Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277091	NM_001005515.2(OR5H15):c.364C>T (p.Arg122Cys)	OR5H15 (R122C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209779	NM_001005515.2(OR5H15):c.410C>T (p.Thr137Ile)	OR5H15 (T137I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2465004	NM_001005515.2(OR5H15):c.457A>C (p.Ile153Leu)	OR5H15 (I153L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3206223	NM_001005515.2(OR5H15):c.480A>T (p.Glu160Asp)	OR5H15 (E160D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206224	NM_001005515.2(OR5H15):c.508A>G (p.Asn170Asp)	OR5H15 (N170D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206225	NM_001005515.2(OR5H15):c.521T>C (p.Val174Ala)	OR5H15 (V174A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206226	NM_001005515.2(OR5H15):c.589C>G (p.Leu197Val)	OR5H15 (L197V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653998	NM_001005515.2(OR5H15):c.598T>C (p.Phe200Leu)	OR5H15 (F200L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3206227	NM_001005515.2(OR5H15):c.649T>C (p.Ser217Pro)	OR5H15 (S217P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206228	NM_001005515.2(OR5H15):c.658T>C (p.Phe220Leu)	OR5H15 (F220L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3303204	NM_001005515.2(OR5H15):c.689C>G (p.Ser230Cys)	OR5H15 (S230C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206229	NM_001005515.2(OR5H15):c.700G>A (p.Val234Ile)	OR5H15 (V234I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520105	NM_001005515.2(OR5H15):c.740C>G (p.Ser247Cys)	OR5H15 (S247C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465763	NM_001005515.2(OR5H15):c.774G>A (p.Met258Ile)	OR5H15 (M258I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526313	NM_001005515.2(OR5H15):c.898T>G (p.Ser300Ala)	OR5H15 (S300A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206231	NM_001005515.2(OR5H15):c.899C>T (p.Ser300Leu)	OR5H15 (S300L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206232	NM_001005515.2(OR5H15):c.905T>C (p.Ile302Thr)	OR5H15 (I302T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408535	NM_001005515.2(OR5H15):c.931G>C (p.Val311Leu)	OR5H15 (V311L)	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 814464	GRCh37/hg19 3q11.2(chr3:96850456-97974150)x3	GABRR3, OR5H1 +7 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: 47