ADGRA1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	ABRAXAS2, ADAM12 +311 more	Copy number loss	See cases	GPathogenic
Select item 146789	GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1	ABRAXAS2, ADAM12 +297 more	Copy number loss	See cases	GPathogenic
Select item 148580	GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	LOC130005026, LOC130005027 +257 more	Copy number loss	See cases	GPathogenic
Select item 150776	GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	LOC126861090, LOC126861091 +250 more	Copy number loss	See cases	GPathogenic
Select item 152830	GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	ADAM12, ADAM8 +241 more	Copy number gain	See cases	GPathogenic
Select item 144259	GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1	ADAM12, ADAM8 +234 more	Copy number loss	See cases	GPathogenic
Select item 3061841	GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1	LOC126861083, LOC126861084 +201 more	Copy number loss	Duane syndrome type 1 +1 more	GPathogenic
Select item 58823	GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1	ADAM12, ADAM8 +207 more	Copy number loss	See cases	GPathogenic
Select item 144558	GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1	LOC130005011, LOC130005012 +199 more	Copy number loss	See cases	GPathogenic
Select item 155548	GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1	ADAM8, ADGRA1 +199 more	Copy number loss	See cases	GPathogenic
Select item 155174	GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1	ADAM8, ADGRA1 +192 more	Copy number loss	See cases	GPathogenic
Select item 152433	GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3	ADAM8, ADGRA1 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 149102	GRCh38/hg38 10q26.2-26.3(chr10:127849717-133622588)x1	ADAM8, ADGRA1 +189 more	Copy number loss	See cases	GPathogenic
Select item 149101	GRCh38/hg38 10q26.2-26.3(chr10:128549913-133622588)x1	LOC130004973, LOC130004974 +170 more	Copy number loss	See cases	GPathogenic
Select item 147736	GRCh38/hg38 10q26.3(chr10:128872419-133564028)x3	ADAM8, ADGRA1 +168 more	Copy number gain	See cases	GPathogenic
Select item 148897	GRCh38/hg38 10q26.3(chr10:129427520-133622588)x1	ADAM8, ADGRA1 +165 more	Copy number loss	See cases	GPathogenic
Select item 146234	GRCh38/hg38 10q26.3(chr10:129549258-133620674)x1	LOC130004974, LOC130004975 +163 more	Copy number loss	See cases	GPathogenic
Select item 58825	GRCh38/hg38 10q26.3(chr10:129673966-133613938)x1	ADAM8, ADGRA1 +158 more	Copy number loss	See cases	GPathogenic
Select item 155487	GRCh38/hg38 10q26.3(chr10:130625650-133613639)x1	ADAM8, ADGRA1 +135 more	Copy number loss	See cases	GUncertain significance
Select item 155695	GRCh38/hg38 10q26.3(chr10:131424682-133613639)x1	ADAM8, ADGRA1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 57314	GRCh38/hg38 10q26.3(chr10:131457361-133620674)x1	ADAM8, ADGRA1 +127 more	Copy number loss	See cases	GPathogenic
Select item 58853	GRCh38/hg38 10q26.3(chr10:131914873-133613938)x1	ADAM8, ADGRA1 +115 more	Copy number loss	See cases	GPathogenic
Select item 146073	GRCh38/hg38 10q26.3(chr10:132178475-133620674)x1	ADAM8, ADGRA1 +105 more	Copy number loss	See cases	GPathogenic
Select item 57950	GRCh38/hg38 10q26.3(chr10:132445383-133398465)x3	ADAM8, ADGRA1 +69 more	Copy number gain	See cases	GUncertain significance
Select item 58854	GRCh38/hg38 10q26.3(chr10:132475849-133620674)x1	ADAM8, ADGRA1 +79 more	Copy number loss	See cases	GPathogenic
Select item 149205	GRCh38/hg38 10q26.3(chr10:132962729-133622588)x1	ADAM8, ADGRA1 +61 more	Copy number loss	See cases	GUncertain significance
Select item 151171	GRCh38/hg38 10q26.3(chr10:133001075-133622588)x3	KNDC1, LOC110599579 +59 more	Copy number gain	See cases	GUncertain significance
Select item 57459	GRCh38/hg38 10q26.3(chr10:133001134-133620674)x1	ADAM8, ADGRA1 +59 more	Copy number loss	See cases	GUncertain significance
Select item 152049	GRCh38/hg38 10q26.3(chr10:133059029-133622588)x3	ADAM8, ADGRA1 +58 more	Copy number gain	See cases	GUncertain significance
Select item 2589744	NM_001083909.3(ADGRA1):c.32G>A (p.Arg11His)	ADGRA1 (R11H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083342	NM_001083909.3(ADGRA1):c.74C>T (p.Thr25Met)	ADGRA1 (T25M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370779	NM_001083909.3(ADGRA1):c.190G>A (p.Ala64Thr)	ADGRA1 (A64T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394156	NM_001083909.3(ADGRA1):c.211G>A (p.Ala71Thr)	ADGRA1 (A71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778418	NM_001083909.3(ADGRA1):c.214G>A (p.Gly72Ser)	ADGRA1 (G72S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2339656	NM_001083909.3(ADGRA1):c.217G>A (p.Gly73Ser)	ADGRA1 (G73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408236	NM_001083909.3(ADGRA1):c.357C>G (p.Cys119Trp)	ADGRA1 (C119W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270193	NM_001083909.3(ADGRA1):c.487G>A (p.Glu163Lys)	ADGRA1 (E66K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205952	NM_001083909.3(ADGRA1):c.595G>A (p.Val199Met)	ADGRA1 (V199M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270169	NM_001083909.3(ADGRA1):c.604C>T (p.Arg202Trp)	ADGRA1 (R105W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302816	NM_001083909.3(ADGRA1):c.620G>A (p.Arg207His)	ADGRA1 (R110H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083334	NM_001083909.3(ADGRA1):c.656G>A (p.Arg219Gln)	ADGRA1 (R219Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2607071	NM_001083909.3(ADGRA1):c.682C>T (p.Arg228Cys)	ADGRA1 (R228C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614418	NM_001083909.3(ADGRA1):c.692G>A (p.Arg231Gln)	ADGRA1 (R134Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083337	NM_001083909.3(ADGRA1):c.724G>A (p.Gly242Ser)	ADGRA1 (G242S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270202	NM_001083909.3(ADGRA1):c.769C>T (p.Arg257Cys)	ADGRA1 (R160C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398552	NM_001083909.3(ADGRA1):c.775G>A (p.Ala259Thr)	ADGRA1 (A162T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268098	NM_001083909.3(ADGRA1):c.779C>A (p.Ala260Asp)	ADGRA1 (A163D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311092	NM_001083909.3(ADGRA1):c.877G>A (p.Ala293Thr)	ADGRA1 (A293T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313211	NM_001083909.3(ADGRA1):c.886G>A (p.Val296Met)	ADGRA1 (V199M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083357	NM_001083909.3(ADGRA1):c.965C>T (p.Pro322Leu)	ADGRA1 (P225L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270210	NM_001083909.3(ADGRA1):c.979G>A (p.Ala327Thr)	ADGRA1 (A230T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210267	NM_001083909.3(ADGRA1):c.1003G>A (p.Gly335Arg)	ADGRA1 (G238R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083259	NM_001083909.3(ADGRA1):c.1021G>A (p.Ala341Thr)	ADGRA1 (A244T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083261	NM_001083909.3(ADGRA1):c.1048G>T (p.Gly350Cys)	ADGRA1 (G350C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533136	NM_001083909.3(ADGRA1):c.1076C>T (p.Pro359Leu)	ADGRA1 (P262L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468168	NM_001083909.3(ADGRA1):c.1081C>A (p.Pro361Thr)	ADGRA1 (P264T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270175	NM_001083909.3(ADGRA1):c.1104G>C (p.Gln368His)	ADGRA1 (Q271H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270184	NM_001083909.3(ADGRA1):c.1105G>T (p.Ala369Ser)	ADGRA1 (A272S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407444	NM_001083909.3(ADGRA1):c.1109C>T (p.Ala370Val)	ADGRA1 (A273V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553750	NM_001083909.3(ADGRA1):c.1168G>A (p.Glu390Lys)	ADGRA1 (E390K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207471	NM_001083909.3(ADGRA1):c.1171C>A (p.Pro391Thr)	ADGRA1 (P391T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083274	NM_001083909.3(ADGRA1):c.1180G>A (p.Ala394Thr)	ADGRA1 (A394T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615975	NM_001083909.3(ADGRA1):c.1181C>T (p.Ala394Val)	ADGRA1 (A394V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083276	NM_001083909.3(ADGRA1):c.1194C>A (p.His398Gln)	ADGRA1 (H301Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083278	NM_001083909.3(ADGRA1):c.1267C>G (p.Pro423Ala)	ADGRA1 (P326A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083280	NM_001083909.3(ADGRA1):c.1282C>T (p.Arg428Trp)	ADGRA1 (R331W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592210	NM_001083909.3(ADGRA1):c.1318A>T (p.Ile440Phe)	ADGRA1 (I343F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083284	NM_001083909.3(ADGRA1):c.1345C>T (p.Arg449Cys)	ADGRA1 (R352C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473525	NM_001083909.3(ADGRA1):c.1354C>T (p.Arg452Cys)	ADGRA1 (R355C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600514	NM_001083909.3(ADGRA1):c.1369C>T (p.Pro457Ser)	ADGRA1 (P457S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607991	NM_001083909.3(ADGRA1):c.1390G>A (p.Ala464Thr)	ADGRA1 (A367T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216721	NM_001083909.3(ADGRA1):c.1393G>C (p.Gly465Arg)	ADGRA1 (G465R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235749	NM_001083909.3(ADGRA1):c.1442T>C (p.Val481Ala)	ADGRA1 (V384A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083291	NM_001083909.3(ADGRA1):c.1519G>A (p.Gly507Arg)	ADGRA1 (G507R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083294	NM_001083909.3(ADGRA1):c.1525G>A (p.Gly509Ser)	ADGRA1 (G412S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568419	NM_001083909.3(ADGRA1):c.1543C>T (p.Arg515Trp)	ADGRA1 (R418W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519074	NM_001083909.3(ADGRA1):c.1544G>A (p.Arg515Gln)	ADGRA1 (R515Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270170	NM_001083909.3(ADGRA1):c.1613G>C (p.Gly538Ala)	ADGRA1 (G538A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305177	NM_001083909.3(ADGRA1):c.1627A>T (p.Thr543Ser)	ADGRA1 (T446S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083306	NM_001083909.3(ADGRA1):c.1634G>A (p.Gly545Glu)	ADGRA1 (G448E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204326	NM_001083909.3(ADGRA1):c.1639G>A (p.Gly547Ser)	ADGRA1 (G450S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 3063175	GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1	ABRAXAS2, ADAM12 +55 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063154	GRCh37/hg19 10q26.3(chr10:131398569-135427143)x1	ADAM8, ADGRA1 +31 more	Copy number loss	not specified	GPathogenic
Select item 3063149	GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1	ABRAXAS2, ADAM12 +54 more	Copy number loss	not specified	GPathogenic

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