OR10J1[gene] - ClinVar

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

Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 3204586	NM_012351.3(OR10J1):c.17T>A (p.Phe6Tyr)	OR10J1 (F6Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472699	NM_012351.3(OR10J1):c.68A>G (p.Gln23Arg)	OR10J1 (Q23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298427	NM_012351.3(OR10J1):c.79C>G (p.Leu27Val)	OR10J1 (L27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411578	NM_012351.3(OR10J1):c.88G>A (p.Val30Met)	OR10J1 (V30M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302422	NM_012351.3(OR10J1):c.107T>C (p.Ile36Thr)	OR10J1 (I36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362003	NM_012351.3(OR10J1):c.149G>A (p.Arg50Gln)	OR10J1 (R50Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311415	NM_012351.3(OR10J1):c.212C>A (p.Thr71Asn)	OR10J1 (T71N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231810	NM_012351.3(OR10J1):c.227T>C (p.Val76Ala)	OR10J1 (V76A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204582	NM_012351.3(OR10J1):c.256G>A (p.Val86Ile)	OR10J1 (V86I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542623	NM_012351.3(OR10J1):c.301A>G (p.Met101Val)	OR10J1 (M101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204583	NM_012351.3(OR10J1):c.317C>A (p.Thr106Asn)	OR10J1 (T106N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462170	NM_012351.3(OR10J1):c.334T>C (p.Cys112Arg)	OR10J1 (C112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204584	NM_012351.3(OR10J1):c.364C>G (p.Arg122Gly)	OR10J1 (R122G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204585	NM_012351.3(OR10J1):c.434T>C (p.Val145Ala)	OR10J1 (V145A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490798	NM_012351.3(OR10J1):c.445T>A (p.Cys149Ser)	OR10J1 (C149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302421	NM_012351.3(OR10J1):c.541C>T (p.Arg181Cys)	OR10J1 (R181C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542535	NM_012351.3(OR10J1):c.544C>T (p.Pro182Ser)	OR10J1 (P182S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213310	NM_012351.3(OR10J1):c.581A>G (p.Asn194Ser)	OR10J1 (N194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204588	NM_012351.3(OR10J1):c.602T>C (p.Ile201Thr)	OR10J1 (I201T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227781	NM_012351.3(OR10J1):c.630G>A (p.Met210Ile)	OR10J1 (M210I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233636	NM_012351.3(OR10J1):c.755G>A (p.Ser252Asn)	OR10J1 (S252N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302423	NM_012351.3(OR10J1):c.761C>T (p.Ala254Val)	OR10J1 (A254V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389099	NM_012351.3(OR10J1):c.770C>T (p.Ala257Val)	OR10J1 (A257V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403257	NM_012351.3(OR10J1):c.832A>G (p.Thr278Ala)	OR10J1 (T278A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204589	NM_012351.3(OR10J1):c.905G>A (p.Arg302Lys)	OR10J1 (R302K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204590	NM_012351.3(OR10J1):c.907G>A (p.Ala303Thr)	OR10J1 (A303T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302424	NM_012351.3(OR10J1):c.920A>G (p.Lys307Arg)	OR10J1 (K307R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	ACKR1, ADAMTS4 +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	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: 35