ADORA1[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 716278	NM_000674.3(ADORA1):c.6G>A (p.Pro2=)	ADORA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3089981	NM_000674.3(ADORA1):c.13A>G (p.Ile5Val)	ADORA1 (I5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774803	NM_000674.3(ADORA1):c.117G>A (p.Ala39=)	ADORA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 725560	NM_000674.3(ADORA1):c.157G>A (p.Val53Met)	ADORA1 (V53M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2539529	NM_000674.3(ADORA1):c.329A>G (p.Lys110Arg)	ADORA1 (K110R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040183	NM_000674.3(ADORA1):c.342-23C>T	ADORA1 (H39Y)	Single nucleotide variant (missense variant +1 more)	ADORA1-related disorder	GLikely benign
Select item 727201	NM_000674.3(ADORA1):c.342-4C>G	ADORA1 (P45R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1086093	NM_000674.3(ADORA1):c.374C>T (p.Ala125Val)	ADORA1 (A125V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2404180	NM_000674.3(ADORA1):c.388G>A (p.Gly130Ser)	ADORA1 (G130S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089988	NM_000674.3(ADORA1):c.427A>G (p.Met143Val)	ADORA1 (M27V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258728	NM_000674.3(ADORA1):c.428T>C (p.Met143Thr)	ADORA1 (M27T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273425	NM_000674.3(ADORA1):c.461G>A (p.Arg154Gln)	ADORA1 (R38Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3089999	NM_000674.3(ADORA1):c.463G>A (p.Ala155Thr)	ADORA1 (A155T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483280	NM_000674.3(ADORA1):c.476A>G (p.Asn159Ser)	ADORA1 (N159S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273435	NM_000674.3(ADORA1):c.478G>A (p.Gly160Ser)	ADORA1 (G160S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528216	NM_000674.3(ADORA1):c.482G>C (p.Ser161Thr)	ADORA1 (S45T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290390	NM_000674.3(ADORA1):c.493C>T (p.Pro165Ser)	ADORA1 (P49S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569309	NM_000674.3(ADORA1):c.503A>C (p.Lys168Thr)	ADORA1 (K168T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 754899	NM_000674.3(ADORA1):c.513C>T (p.Phe171=)	ADORA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722334	NM_000674.3(ADORA1):c.585C>T (p.Leu195=)	ADORA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2271173	NM_000674.3(ADORA1):c.634A>G (p.Asn212Asp)	ADORA1 (N144D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046184	NM_000674.3(ADORA1):c.635A>G (p.Asn212Ser)	ADORA1 (N144S +2 more)	Single nucleotide variant (missense variant)	ADORA1-related disorder	GLikely benign
Select item 2352274	NM_000674.3(ADORA1):c.697G>A (p.Ala233Thr)	ADORA1 (A117T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749561	NM_000674.3(ADORA1):c.831G>A (p.Thr277=)	ADORA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 375733	NM_000674.3(ADORA1):c.835G>A (p.Gly279Ser)	ADORA1 (G279S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	CFHR5, CHI3L1 +185 more	Deletion	not provided	GPathogenic
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	C4BPA, FMOD +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CSRP1, PPFIA4 +145 more	Copy number gain	not provided	Gnot provided
Select item 814155	GRCh37/hg19 1q32.1(chr1:203078722-203210585)x1	CHI3L1, CHIT1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 394404	GRCh37/hg19 1q32.1(chr1:203134126-203160335)x3	ADORA1, CHI3L1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	EGLN1, EIF2D +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 42