ADORA3[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 2243308	NM_020683.7(TMIGD3):c.991C>G (p.Pro331Ala)	ADORA3, TMIGD3 (P162A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246467	NM_020683.7(TMIGD3):c.854G>C (p.Arg285Pro)	ADORA3, TMIGD3 (R116P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254119	NM_020683.7(TMIGD3):c.715C>T (p.Arg239Trp)	ADORA3, TMIGD3 (R239W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256319	NM_020683.7(TMIGD3):c.451A>G (p.Ile151Val)	ADORA3, TMIGD3 (I70V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381157	NM_020683.7(TMIGD3):c.419T>C (p.Met140Thr)	ADORA3, TMIGD3 (M59T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261144	NM_000677.4(ADORA3):c.681G>T (p.Lys227Asn)	ADORA3, TMIGD3 (K227N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2242996	NM_000677.4(ADORA3):c.617A>T (p.Asn206Ile)	ADORA3, TMIGD3 (N206I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3035442	NM_000677.4(ADORA3):c.583G>A (p.Ala195Thr)	ADORA3, TMIGD3 (A195T +1 more)	Single nucleotide variant (missense variant +2 more)	ADORA3-related disorder	GLikely benign
Select item 3048814	NM_000677.4(ADORA3):c.566C>A (p.Pro189His)	ADORA3, TMIGD3 (P189H +1 more)	Single nucleotide variant (missense variant +2 more)	ADORA3-related disorder	GUncertain significance
Select item 1243184	NM_000677.3(ADORA3):c.-581G>A	ADORA3, TMIGD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	ADORA3, AP4B1 +34 more	Deletion	not provided	GPathogenic
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 688916	GRCh37/hg19 1p13.3-13.2(chr1:110994179-112360446)x1	ADORA3, ATP5PB +19 more	Copy number loss	not provided	GPathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 25