ClinVar for Gene (Select 219968) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303165	NM_001005218.3(OR5B21):c.700G>T (p.Val234Phe)	OR5B21 (V234F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303164	NM_001005218.3(OR5B21):c.706T>C (p.Ser236Pro)	OR5B21 (S236P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303163	NM_001005218.3(OR5B21):c.402G>A (p.Met134Ile)	OR5B21 (M134I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303162	NM_001005218.3(OR5B21):c.473C>T (p.Ala158Val)	OR5B21 (A158V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206161	NM_001005218.3(OR5B21):c.838C>T (p.Pro280Ser)	OR5B21 (P280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206160	NM_001005218.3(OR5B21):c.833T>G (p.Val278Gly)	OR5B21 (V278G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206159	NM_001005218.3(OR5B21):c.649T>G (p.Phe217Val)	OR5B21 (F217V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206158	NM_001005218.3(OR5B21):c.386A>G (p.His129Arg)	OR5B21 (H129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206156	NM_001005218.3(OR5B21):c.281G>T (p.Gly94Val)	OR5B21 (G94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206155	NM_001005218.3(OR5B21):c.251G>A (p.Arg84Gln)	OR5B21 (R84Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2469645	NM_001005218.3(OR5B21):c.610G>A (p.Val204Ile)	OR5B21 (V204I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456369	NM_001005218.3(OR5B21):c.308T>G (p.Val103Gly)	OR5B21 (V103G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394529	NM_001005218.3(OR5B21):c.169A>G (p.Met57Val)	OR5B21 (M57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381047	NM_001005218.3(OR5B21):c.338T>C (p.Leu113Pro)	OR5B21 (L113P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358555	NM_001005218.3(OR5B21):c.250C>T (p.Arg84Trp)	OR5B21 (R84W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322438	NM_001005218.3(OR5B21):c.313T>G (p.Phe105Val)	OR5B21 (F105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306860	NM_001005218.3(OR5B21):c.683C>G (p.Ala228Gly)	OR5B21 (A228G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261360	NM_001005218.3(OR5B21):c.888T>G (p.Ser296Arg)	OR5B21 (S296R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232317	NM_001005218.3(OR5B21):c.865C>A (p.Leu289Ile)	OR5B21 (L289I)	Single nucleotide variant (missense variant)	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 972998	GRCh37/hg19 11q12.1(chr11:58237819-58800374)x3	CNTF, GLYAT +5 more	Copy number gain	not provided	Gnot provided
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

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Links from Gene

Items: 29