ClinVar for Gene (Select 219954) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303477	NM_001005211.2(OR9I1):c.929T>A (p.Val310Glu)	OR9I1, OR9Q1 (V310E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303476	NM_001005211.2(OR9I1):c.773T>C (p.Met258Thr)	OR9I1, OR9Q1 (M258T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206902	NM_001005211.2(OR9I1):c.898G>A (p.Ala300Thr)	OR9I1, OR9Q1 (A300T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206900	NM_001005211.2(OR9I1):c.820G>A (p.Val274Met)	OR9I1, OR9Q1 (V274M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206899	NM_001005211.2(OR9I1):c.74T>C (p.Ile25Thr)	OR9I1, OR9Q1 (I25T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206898	NM_001005211.2(OR9I1):c.650C>T (p.Ser217Phe)	OR9I1, OR9Q1 (S217F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206897	NM_001005211.2(OR9I1):c.463G>A (p.Gly155Arg)	OR9I1, OR9Q1 (G155R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206896	NM_001005211.2(OR9I1):c.452G>A (p.Cys151Tyr)	OR9I1, OR9Q1 (C151Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206895	NM_001005211.2(OR9I1):c.295G>A (p.Ala99Thr)	OR9I1, OR9Q1 (A99T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206894	NM_001005211.2(OR9I1):c.280T>C (p.Tyr94His)	OR9I1, OR9Q1 (Y94H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206893	NM_001005211.2(OR9I1):c.238C>G (p.Gln80Glu)	OR9I1, OR9Q1 (Q80E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2603378	NM_001005211.2(OR9I1):c.604T>C (p.Phe202Leu)	OR9I1, OR9Q1 (F202L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539057	NM_001005211.2(OR9I1):c.884A>G (p.Lys295Arg)	OR9I1, OR9Q1 (K295R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468909	NM_001005211.2(OR9I1):c.889G>A (p.Val297Ile)	OR9I1, OR9Q1 (V297I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458512	NM_001005211.2(OR9I1):c.226G>A (p.Val76Ile)	OR9I1, OR9Q1 (V76I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385260	NM_001005211.2(OR9I1):c.440G>C (p.Gly147Ala)	OR9I1, OR9Q1 (G147A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378170	NM_001005211.2(OR9I1):c.79C>T (p.Leu27Phe)	OR9I1, OR9Q1 (L27F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376211	NM_001005211.2(OR9I1):c.519A>C (p.Gln173His)	OR9I1, OR9Q1 (Q173H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361030	NM_001005211.2(OR9I1):c.293C>T (p.Ala98Val)	OR9I1, OR9Q1 (A98V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347374	NM_001005211.2(OR9I1):c.476G>A (p.Arg159His)	OR9I1, OR9Q1 (R159H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321192	NM_001005211.2(OR9I1):c.748C>A (p.Leu250Ile)	OR9I1, OR9Q1 (L250I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286544	NM_001005211.2(OR9I1):c.443C>T (p.Ala148Val)	OR9I1, OR9Q1 (A148V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227837	NM_001005211.2(OR9I1):c.704C>A (p.Ala235Asp)	OR9I1, OR9Q1 (A235D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222319	NM_001005211.2(OR9I1):c.811G>A (p.Asp271Asn)	OR9I1, OR9Q1 (D271N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 91923	NM_001005211.2(OR9I1):c.218A>G (p.Tyr73Cys)	OR9I1, OR9Q1 (Y73C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Links from Gene

Items: 34