Related gene-specific medical variations for Gene (Select 646023) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273467	NM_000675.6(ADORA2A):c.1033G>C (p.Val345Leu)	ADORA2A, ADORA2A-AS1 +1 more (V345L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3273456	NM_000675.6(ADORA2A):c.443A>G (p.Gln148Arg)	ADORA2A, ADORA2A-AS1 +1 more (Q148R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3273446	NM_000675.6(ADORA2A):c.1018G>A (p.Gly340Ser)	ADORA2A, ADORA2A-AS1 +1 more (G340S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3090073	NM_000675.6(ADORA2A):c.919G>A (p.Val307Ile)	ADORA2A, ADORA2A-AS1 +1 more (V307I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3090070	NM_000675.6(ADORA2A):c.911G>A (p.Arg304His)	ADORA2A, ADORA2A-AS1 +1 more (R304H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3090064	NM_000675.6(ADORA2A):c.871C>T (p.Arg291Cys)	ADORA2A, ADORA2A-AS1 +1 more (R291C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3090062	NM_000675.6(ADORA2A):c.869A>T (p.Tyr290Phe)	ADORA2A, ADORA2A-AS1 +1 more (Y290F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3090022	NM_000675.6(ADORA2A):c.1072C>T (p.Pro358Ser)	ADORA2A, ADORA2A-AS1 +1 more (P358S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2622323	NM_000675.6(ADORA2A):c.1091G>T (p.Gly364Val)	ADORA2A, ADORA2A-AS1 +1 more (G364V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2620824	NM_000675.6(ADORA2A):c.352G>A (p.Gly118Ser)	ADORA2A, ADORA2A-AS1 +1 more (G118S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2603874	NM_000675.6(ADORA2A):c.887G>A (p.Arg296His)	ADORA2A, ADORA2A-AS1 +1 more (R296H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2557710	NM_000675.6(ADORA2A):c.148G>T (p.Ala50Ser)	ADORA2A, ADORA2A-AS1 +1 more (A50S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2546609	NM_000675.6(ADORA2A):c.203C>T (p.Thr68Ile)	ADORA2A, ADORA2A-AS1 +1 more (T68I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2496108	NM_000675.6(ADORA2A):c.391C>G (p.Leu131Val)	ADORA2A, ADORA2A-AS1 +1 more (L131V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2459042	NM_000675.6(ADORA2A):c.1169T>C (p.Leu390Pro)	ADORA2A, ADORA2A-AS1 +1 more (L390P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2379112	NM_000675.6(ADORA2A):c.424G>A (p.Gly142Ser)	ADORA2A-AS1, SPECC1L-ADORA2A +1 more (G142S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2372318	NM_000675.6(ADORA2A):c.478G>A (p.Gly160Arg)	ADORA2A, ADORA2A-AS1 +1 more (G160R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2327114	NM_000675.6(ADORA2A):c.1036T>C (p.Trp346Arg)	ADORA2A, ADORA2A-AS1 +1 more (W346R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2286427	NM_000675.6(ADORA2A):c.751A>T (p.Ile251Phe)	ADORA2A, ADORA2A-AS1 +1 more (I251F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2280611	NM_000675.6(ADORA2A):c.23T>C (p.Val8Ala)	ADORA2A, ADORA2A-AS1 +1 more (V8A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2252860	NM_000675.6(ADORA2A):c.587T>C (p.Val196Ala)	ADORA2A, ADORA2A-AS1 +1 more (V196A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2208066	NM_000675.6(ADORA2A):c.356C>T (p.Thr119Met)	ADORA2A, ADORA2A-AS1 +1 more (T119M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 782351	NM_000675.6(ADORA2A):c.432C>T (p.Asn144=)	ADORA2A, ADORA2A-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 780634	NM_000675.6(ADORA2A):c.1044C>T (p.Asn348=)	ADORA2A, ADORA2A-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 774536	NM_000675.6(ADORA2A):c.885C>T (p.Phe295=)	ADORA2A, ADORA2A-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 769158	NM_000675.6(ADORA2A):c.711C>A (p.Ile237=)	ADORA2A, ADORA2A-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 769157	NM_000675.6(ADORA2A):c.439G>A (p.Gly147Ser)	ADORA2A, ADORA2A-AS1 +1 more (G147S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 758935	NM_000675.6(ADORA2A):c.332+9G>A	SPECC1L-ADORA2A, ADORA2A +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Links from Gene

Items: 28