OR10P1[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	AMHR2, ATF7 +219 more	Copy number gain	See cases	GPathogenic
Select item 3204613	NM_206899.1(OR10P1):c.65C>T (p.Ala22Val)	OR10P1 (A22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204615	NM_206899.1(OR10P1):c.76C>T (p.Pro26Ser)	OR10P1 (P26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204617	NM_206899.1(OR10P1):c.79C>A (p.Leu27Met)	OR10P1 (L27M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204619	NM_206899.1(OR10P1):c.88G>A (p.Val30Met)	OR10P1 (V30M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411028	NM_206899.1(OR10P1):c.137T>C (p.Ile46Thr)	OR10P1 (I46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607550	NM_206899.1(OR10P1):c.143T>C (p.Leu48Pro)	OR10P1 (L48P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205189	NM_206899.1(OR10P1):c.151G>T (p.Val51Phe)	OR10P1 (V51F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551205	NM_206899.1(OR10P1):c.167A>G (p.His56Arg)	OR10P1 (H56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405178	NM_206899.1(OR10P1):c.190C>T (p.Arg64Cys)	OR10P1 (R64C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768553	NM_206899.1(OR10P1):c.195A>G (p.Gln65=)	OR10P1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776714	NM_206899.1(OR10P1):c.246G>A (p.Leu82=)	OR10P1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2381617	NM_206899.1(OR10P1):c.247G>A (p.Ala83Thr)	OR10P1 (A83T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540821	NM_206899.1(OR10P1):c.257G>A (p.Gly86Asp)	OR10P1 (G86D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346000	NM_206899.1(OR10P1):c.337T>C (p.Cys113Arg)	OR10P1 (C113R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204609	NM_206899.1(OR10P1):c.383G>T (p.Cys128Phe)	OR10P1 (C128F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466325	NM_206899.1(OR10P1):c.406C>G (p.Leu136Val)	OR10P1 (L136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204610	NM_206899.1(OR10P1):c.429G>C (p.Met143Ile)	OR10P1 (M143I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622981	NM_206899.1(OR10P1):c.457G>A (p.Gly153Ser)	OR10P1 (G153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204611	NM_206899.1(OR10P1):c.476C>T (p.Thr159Ile)	OR10P1 (T159I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204612	NM_206899.1(OR10P1):c.516C>G (p.His172Gln)	OR10P1 (H172Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603443	NM_206899.1(OR10P1):c.526C>T (p.Pro176Ser)	OR10P1 (P176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710020	NM_206899.1(OR10P1):c.643A>T (p.Ile215Phe)	OR10P1 (I215F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2510089	NM_206899.1(OR10P1):c.659T>C (p.Ile220Thr)	OR10P1 (I220T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374387	NM_206899.1(OR10P1):c.661C>T (p.Arg221Cys)	OR10P1 (R221C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204614	NM_206899.1(OR10P1):c.662G>A (p.Arg221His)	OR10P1 (R221H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508856	NM_206899.1(OR10P1):c.662G>T (p.Arg221Leu)	OR10P1 (R221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776715	NM_206899.1(OR10P1):c.663C>T (p.Arg221=)	OR10P1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2472852	NM_206899.1(OR10P1):c.703C>T (p.Arg235Cys)	OR10P1 (R235C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204616	NM_206899.1(OR10P1):c.784C>T (p.Arg262Trp)	OR10P1 (R262W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715650	NM_206899.1(OR10P1):c.785G>A (p.Arg262Gln)	OR10P1 (R262Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3204618	NM_206899.1(OR10P1):c.817C>T (p.Arg273Cys)	OR10P1 (R273C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298500	NM_206899.1(OR10P1):c.892G>A (p.Val298Met)	OR10P1 (V298M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527710	GRCh37/hg19 12q13.2(chr12:55975308-56593032)	BLOC1S1, CD63 +25 more	Copy number gain	not specified	GUncertain significance
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 39