OR10R2[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +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 2276807	NM_001395749.1(OR10R2):c.172A>T (p.Ile58Phe)	OR10R2 (I58F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591982	NM_001395749.1(OR10R2):c.199C>T (p.Pro67Ser)	OR10R2 (P78S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541657	NM_001395749.1(OR10R2):c.292G>T (p.Ala98Ser)	OR10R2 (A109S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482764	NM_001395749.1(OR10R2):c.395A>T (p.Tyr132Phe)	OR10R2 (Y132F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518613	NM_001395749.1(OR10R2):c.466G>T (p.Ala156Ser)	OR10R2 (A167S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528605	NM_001395749.1(OR10R2):c.488T>C (p.Leu163Ser)	OR10R2 (L163S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342869	NM_001395749.1(OR10R2):c.548T>A (p.Val183Asp)	OR10R2 (V194D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604151	NM_001395749.1(OR10R2):c.646C>T (p.Leu216Phe)	OR10R2 (L216F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354649	NM_001395749.1(OR10R2):c.731G>A (p.Arg244Gln)	OR10R2 (R244Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246444	NM_001395749.1(OR10R2):c.809G>A (p.Arg270Lys)	OR10R2 (R270K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380533	NM_001395749.1(OR10R2):c.881T>C (p.Leu294Pro)	OR10R2 (L294P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536303	NM_001395749.1(OR10R2):c.925G>T (p.Ala309Ser)	OR10R2 (A309S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536304	NM_001395749.1(OR10R2):c.926C>T (p.Ala309Val)	OR10R2 (A320V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
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 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +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)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 21