OR10H4[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 2499635	GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)	AKAP8, AKAP8L +105 more	Copy number loss	Chromosome 19p13.13 deletion syndrome	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 3204569	NM_001004465.1(OR10H4):c.21C>A (p.Ser7Arg)	OR10H4 (S7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458919	NM_001004465.1(OR10H4):c.104T>C (p.Met35Thr)	OR10H4 (M35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204568	NM_001004465.1(OR10H4):c.163A>G (p.Arg55Gly)	OR10H4 (R55G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556178	NM_001004465.1(OR10H4):c.229G>A (p.Ala77Thr)	OR10H4 (A77T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401289	NM_001004465.1(OR10H4):c.241C>T (p.Arg81Cys)	OR10H4 (R81C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465390	NM_001004465.1(OR10H4):c.406C>T (p.Leu136Phe)	OR10H4 (L136F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268077	NM_001004465.1(OR10H4):c.415C>T (p.Pro139Ser)	OR10H4 (P139S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204570	NM_001004465.1(OR10H4):c.418C>T (p.Arg140Cys)	OR10H4 (R140C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393336	NM_001004465.1(OR10H4):c.444T>G (p.Cys148Trp)	OR10H4 (C148W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2374257	NM_001004465.1(OR10H4):c.458G>A (p.Gly153Asp)	OR10H4 (G153D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291145	NM_001004465.1(OR10H4):c.484A>G (p.Thr162Ala)	OR10H4 (T162A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204571	NM_001004465.1(OR10H4):c.596T>C (p.Met199Thr)	OR10H4 (M199T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302416	NM_001004465.1(OR10H4):c.648C>G (p.Ile216Met)	OR10H4 (I216M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302414	NM_001004465.1(OR10H4):c.689T>C (p.Ile230Thr)	OR10H4 (I230T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316583	NM_001004465.1(OR10H4):c.697G>T (p.Ala233Ser)	OR10H4 (A233S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302415	NM_001004465.1(OR10H4):c.707G>A (p.Arg236Gln)	OR10H4 (R236Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204572	NM_001004465.1(OR10H4):c.725C>T (p.Thr242Met)	OR10H4 (T242M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291228	NM_001004465.1(OR10H4):c.758A>C (p.His253Pro)	OR10H4 (H253P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204573	NM_001004465.1(OR10H4):c.784C>G (p.Leu262Val)	OR10H4 (L262V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622652	NM_001004465.1(OR10H4):c.785T>A (p.Leu262His)	OR10H4 (L262H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470250	NM_001004465.1(OR10H4):c.808A>G (p.Met270Val)	OR10H4 (M270V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204574	NM_001004465.1(OR10H4):c.825G>C (p.Leu275Phe)	OR10H4 (L275F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381676	NM_001004465.1(OR10H4):c.937C>G (p.Pro313Ala)	OR10H4 (P313A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 688090	GRCh37/hg19 19p13.12-13.11(chr19:15623742-16301544)x1	CIB3, CYP4F11 +15 more	Copy number loss	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442665	GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1	ANO8, ABHD8 +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 442476	GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1	ADGRE2, AKAP8 +45 more	Copy number loss	See cases	GPathogenic
Select item 424641	GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1	HSH2D, KLF2 +46 more	Copy number loss	not provided	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 39