ADRA2B[gene] and "single gene"[properties] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3053525	NM_000682.7(ADRA2B):c.*2C>A	ADRA2B	Single nucleotide variant (3 prime UTR variant)	ADRA2B-related condition	GLikely benign
Select item 736745	NM_000682.7(ADRA2B):c.1293G>A (p.Gln431=)	ADRA2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 767187	NM_000682.7(ADRA2B):c.1266C>T (p.Asn422=)	ADRA2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025171	NM_000682.7(ADRA2B):c.1242C>T (p.Ile414=)	ADRA2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3054220	NM_000682.7(ADRA2B):c.1233C>T (p.Phe411=)	ADRA2B	Single nucleotide variant (synonymous variant)	ADRA2B-related condition	GLikely benign
Select item 707066	NM_000682.7(ADRA2B):c.1135G>A (p.Val379Ile)	ADRA2B (V379I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2367365	NM_000682.7(ADRA2B):c.1127T>G (p.Val376Gly)	ADRA2B (V376G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046238	NM_000682.7(ADRA2B):c.1126G>A (p.Val376Ile)	ADRA2B (V376I)	Single nucleotide variant (missense variant)	ADRA2B-related condition	GLikely benign
Select item 871765	NM_000682.7(ADRA2B):c.1102C>T (p.Arg368Cys)	ADRA2B (R368C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690853	NM_000682.7(ADRA2B):c.1093C>T (p.Arg365Trp)	ADRA2B (R365W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213759	NM_000682.7(ADRA2B):c.1079G>A (p.Arg360Gln)	ADRA2B (R360Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572014	NM_000682.7(ADRA2B):c.1070G>A (p.Trp357Ter)	ADRA2B (W357*)	Single nucleotide variant (nonsense)	ADRA2B-Related Disorder	Gnot provided
Select item 2690851	NM_000682.7(ADRA2B):c.1058G>A (p.Gly353Asp)	ADRA2B (G353D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342315	NM_000682.7(ADRA2B):c.943G>C (p.Val315Leu)	ADRA2B (V315L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 707706	NM_000682.7(ADRA2B):c.943G>A (p.Val315Met)	ADRA2B (V315M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3035246	NM_000682.7(ADRA2B):c.894AGAGGAGGA[3] (p.Glu309_Cys310insGluGluGlu)	ADRA2B	Microsatellite (inframe insertion)	ADRA2B-related condition	GBenign
Select item 706992	NM_000682.7(ADRA2B):c.911_912insAGAGGA (p.Glu308_Glu309dup)	ADRA2B	Insertion (inframe_insertion)	not provided	GLikely benign
Select item 767169	NM_000682.7(ADRA2B):c.894AGAGGAGGA[1] (p.Glu307_Glu309del)	ADRA2B	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 992750	NM_000682.7(ADRA2B):c.898_899insGGGAAGAGG (p.Glu299_Glu300insGlyGluGlu)	ADRA2B	Insertion (inframe_insertion)	Seizure	GUncertain significance
Select item 2401905	NM_000682.7(ADRA2B):c.874T>C (p.Ser292Pro)	ADRA2B (S292P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690852	NM_000682.7(ADRA2B):c.836A>G (p.Asn279Ser)	ADRA2B (N279S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3029464	NM_000682.7(ADRA2B):c.783C>T (p.Thr261=)	ADRA2B	Single nucleotide variant (synonymous variant)	ADRA2B-related condition	GLikely benign
Select item 655730	NM_000682.7(ADRA2B):c.695C>G (p.Ala232Gly)	ADRA2B (A232G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 192366	NM_000682.7(ADRA2B):c.675_686delinsGTTTGGCAG (p.His225_Leu229delinsGlnPheGlyArg)	ADRA2B	Indel (inframe_indel)	Epilepsy, familial adult myoclonic, 2	GUncertain significance
Select item 191117	NM_000682.7(ADRA2B):c.664C>T (p.Arg222Ter)	ADRA2B (R222*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1032452	NM_000682.7(ADRA2B):c.649G>A (p.Glu217Lys)	ADRA2B (E217K)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 2 +1 more	GUncertain significance
Select item 929047	NM_000682.7(ADRA2B):c.636dup (p.Pro213fs)	ADRA2B (P213fs)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 2230588	NM_000682.7(ADRA2B):c.628A>G (p.Lys210Glu)	ADRA2B (K210E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1325621	NM_000682.7(ADRA2B):c.622del (p.Arg208fs)	ADRA2B (R208fs)	Deletion (frameshift variant)	Seizure	GUncertain significance
Select item 2541295	NM_000682.7(ADRA2B):c.568C>T (p.Leu190Phe)	ADRA2B (L190F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767281	NM_000682.7(ADRA2B):c.567C>T (p.Ile189=)	ADRA2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3090838	NM_000682.7(ADRA2B):c.513G>C (p.Trp171Cys)	ADRA2B (W171C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311772	NM_000682.7(ADRA2B):c.490T>C (p.Cys164Arg)	ADRA2B (C164R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031914	NM_000682.7(ADRA2B):c.483C>T (p.Arg161=)	ADRA2B	Single nucleotide variant (synonymous variant)	ADRA2B-related condition	GLikely benign
Select item 2271001	NM_000682.7(ADRA2B):c.382C>A (p.Arg128Ser)	ADRA2B (R128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490644	NM_000682.7(ADRA2B):c.379C>A (p.Arg127Ser)	ADRA2B (R127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690850	NM_000682.7(ADRA2B):c.293C>A (p.Ser98Ter)	ADRA2B (S98*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2254909	NM_000682.7(ADRA2B):c.280C>G (p.Leu94Val)	ADRA2B (L94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 376874	NM_000682.7(ADRA2B):c.276C>G (p.Asp92Glu)	ADRA2B (D92E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1029933	NM_000682.7(ADRA2B):c.274G>A (p.Asp92Asn)	ADRA2B (D92N)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 2	GUncertain significance
Select item 3090824	NM_000682.7(ADRA2B):c.242G>C (p.Arg81Pro)	ADRA2B (R81P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271399	NM_000682.7(ADRA2B):c.242G>A (p.Arg81Gln)	ADRA2B (R81Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382453	NM_000682.7(ADRA2B):c.202T>A (p.Phe68Ile)	ADRA2B (F68I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 713934	NM_000682.7(ADRA2B):c.145C>T (p.Leu49=)	ADRA2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 772413	NM_000682.7(ADRA2B):c.120C>T (p.Ser40=)	ADRA2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2250437	NM_000682.7(ADRA2B):c.79A>G (p.Ile27Val)	ADRA2B (I27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035382	NM_000682.7(ADRA2B):c.36A>G (p.Thr12=)	ADRA2B	Single nucleotide variant (synonymous variant)	ADRA2B-related condition	GBenign
Select item 3036697	NM_000682.7(ADRA2B):c.21C>T (p.Tyr7=)	ADRA2B	Single nucleotide variant (synonymous variant)	ADRA2B-related condition	GLikely benign

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Items: 48