ClinVar for Gene (Select 26476) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3302423	NM_012351.3(OR10J1):c.761C>T (p.Ala254Val)	OR10J1 (A254V)	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 3302421	NM_012351.3(OR10J1):c.541C>T (p.Arg181Cys)	OR10J1 (R181C)	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 3204589	NM_012351.3(OR10J1):c.905G>A (p.Arg302Lys)	OR10J1 (R302K)	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 3204586	NM_012351.3(OR10J1):c.17T>A (p.Phe6Tyr)	OR10J1 (F6Y)	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 3204584	NM_012351.3(OR10J1):c.364C>G (p.Arg122Gly)	OR10J1 (R122G)	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 3204582	NM_012351.3(OR10J1):c.256G>A (p.Val86Ile)	OR10J1 (V86I)	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 2542623	NM_012351.3(OR10J1):c.301A>G (p.Met101Val)	OR10J1 (M101V)	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 2490798	NM_012351.3(OR10J1):c.445T>A (p.Cys149Ser)	OR10J1 (C149S)	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 2462170	NM_012351.3(OR10J1):c.334T>C (p.Cys112Arg)	OR10J1 (C112R)	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 2403257	NM_012351.3(OR10J1):c.832A>G (p.Thr278Ala)	OR10J1 (T278A)	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 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 2298427	NM_012351.3(OR10J1):c.79C>G (p.Leu27Val)	OR10J1 (L27V)	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 2231810	NM_012351.3(OR10J1):c.227T>C (p.Val76Ala)	OR10J1 (V76A)	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 2213310	NM_012351.3(OR10J1):c.581A>G (p.Asn194Ser)	OR10J1 (N194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	LY9, MNDA +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
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

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Links from Gene

Items: 35