ADRA2C[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 155180	GRCh38/hg38 4p16.3(chr4:36424-3881330)x1	ADD1, ADRA2C +279 more	Copy number loss	See cases	GPathogenic
Select item 154884	GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1	ADD1, ADRA2C +426 more	Copy number loss	See cases	GPathogenic
Select item 150615	GRCh38/hg38 4p16.3(chr4:36424-3974044)x1	ADD1, ADRA2C +283 more	Copy number loss	See cases	GPathogenic
Select item 150606	GRCh38/hg38 4p16.3(chr4:36424-4097002)x3	LOC129991977, LOC129991978 +283 more	Copy number gain	See cases	GPathogenic
Select item 149173	GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	NELFA, NICOL1 +504 more	Copy number loss	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 more	Copy number loss	See cases	GPathogenic
Select item 145401	GRCh38/hg38 4p16.3(chr4:37335-3775112)x1	ADD1, ADRA2C +277 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57275	GRCh38/hg38 4p16.3(chr4:51519-3775116)x3	ADD1, ADRA2C +277 more	Copy number gain	See cases	GPathogenic
Select item 57239	GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3	ABLIM2, ADD1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 57873	GRCh38/hg38 4p16.3(chr4:56878-3870653)x1	CTBP1-AS, CTBP1-DT +278 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 155480	GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1	LOC101928279, LOC101928306 +346 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	ABLIM2, ACOX3 +479 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +569 more	Copy number loss	See cases	GPathogenic
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 147686	GRCh38/hg38 4p16.3(chr4:72555-4358718)x1	ATP5ME, CFAP99 +290 more	Copy number loss	See cases	GPathogenic
Select item 147376	GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1	ADD1, ADRA2C +363 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146279	GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1	ADD1, ADRA2C +313 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144364	GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1	ADD1, ADRA2C +323 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58012	GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3	ADD1, ADRA2C +327 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57935	GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1	ADD1, ADRA2C +322 more	Copy number loss	See cases	GPathogenic
Select item 57933	GRCh38/hg38 4p16.3(chr4:72555-3847154)x3	ADD1, ADRA2C +278 more	Copy number gain	See cases	GPathogenic
Select item 57929	GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1	LOC129991980, LOC129991981 +319 more	Copy number loss	See cases	GPathogenic
Select item 57904	GRCh38/hg38 4p16.3(chr4:72555-3785385)x1	LOC123466217, LOC123466218 +277 more	Copy number loss	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 57901	GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1	NSD2, NSG1 +438 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58014	GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3	ADD1, ADRA2C +300 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57939	GRCh38/hg38 4p16.3(chr4:85149-4405782)x1	ADD1, ADRA2C +291 more	Copy number loss	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 more	Copy number loss	See cases	GPathogenic
Select item 153619	GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1	ADD1, ADRA2C +216 more	Copy number loss	See cases	GPathogenic
Select item 149071	GRCh38/hg38 4p16.3(chr4:2019774-3881330)x3	ADD1, ADRA2C +149 more	Copy number gain	See cases	GUncertain significance
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 1679802	Single allele	ADRA2C, BLOC1S4 +181 more	Deletion	not provided	GLikely pathogenic
Select item 155045	GRCh38/hg38 4p16.3(chr4:3407550-3942201)x1	ADRA2C, DOK7 +19 more	Copy number loss	See cases	GUncertain significance
Select item 2474699	NM_000683.4(ADRA2C):c.11C>A (p.Pro4Gln)	ADRA2C (P4Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273895	NM_000683.4(ADRA2C):c.47C>T (p.Ala16Val)	ADRA2C (A16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621944	NM_000683.4(ADRA2C):c.100G>A (p.Ala34Thr)	ADRA2C (A34T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516219	NM_000683.4(ADRA2C):c.100G>T (p.Ala34Ser)	ADRA2C (A34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253868	NM_000683.4(ADRA2C):c.104C>T (p.Ser35Leu)	ADRA2C (S35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394157	NM_000683.4(ADRA2C):c.119G>A (p.Gly40Glu)	ADRA2C (G40E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273885	NM_000683.4(ADRA2C):c.122C>T (p.Pro41Leu)	ADRA2C (P41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460547	NM_000683.4(ADRA2C):c.134A>G (p.Gln45Arg)	ADRA2C (Q45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273898	NM_000683.4(ADRA2C):c.200T>C (p.Val67Ala)	ADRA2C (V67A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057567	NM_000683.4(ADRA2C):c.297G>C (p.Leu99=)	ADRA2C	Single nucleotide variant (synonymous variant)	ADRA2C-related disorder	GLikely benign
Select item 3040787	NM_000683.4(ADRA2C):c.312C>A (p.Val104=)	ADRA2C	Single nucleotide variant (synonymous variant)	ADRA2C-related disorder	GLikely benign
Select item 3090874	NM_000683.4(ADRA2C):c.479A>C (p.Asn160Thr)	ADRA2C (N160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592920	NM_000683.4(ADRA2C):c.593C>A (p.Ala198Asp)	ADRA2C (A198D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322832	NM_000683.4(ADRA2C):c.707T>C (p.Val236Ala)	ADRA2C (V236A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090882	NM_000683.4(ADRA2C):c.731T>G (p.Leu244Arg)	ADRA2C (L244R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402319	NM_000683.4(ADRA2C):c.761A>T (p.Asp254Val)	ADRA2C (D254V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523092	NM_000683.4(ADRA2C):c.778A>G (p.Thr260Ala)	ADRA2C (T260A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235483	NM_000683.4(ADRA2C):c.787G>A (p.Gly263Arg)	ADRA2C (G263R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090893	NM_000683.4(ADRA2C):c.803C>T (p.Ala268Val)	ADRA2C (A268V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300087	NM_000683.4(ADRA2C):c.820G>C (p.Gly274Arg)	ADRA2C (G274R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386721	NM_000683.4(ADRA2C):c.838C>T (p.Pro280Ser)	ADRA2C (P280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273879	NM_000683.4(ADRA2C):c.854C>T (p.Pro285Leu)	ADRA2C (P285L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210792	NM_000683.4(ADRA2C):c.858C>G (p.Asp286Glu)	ADRA2C (D286E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090901	NM_000683.4(ADRA2C):c.874G>C (p.Ala292Pro)	ADRA2C (A292P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214368	NM_000683.4(ADRA2C):c.877G>C (p.Glu293Gln)	ADRA2C (E293Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090906	NM_000683.4(ADRA2C):c.908G>A (p.Arg303Gln)	ADRA2C (R303Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774613	NM_000683.4(ADRA2C):c.933G>C (p.Ala311=)	ADRA2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2465072	NM_000683.4(ADRA2C):c.937G>A (p.Gly313Arg)	ADRA2C (G313R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046253	NM_000683.4(ADRA2C):c.942_950del (p.313GGA[1])	ADRA2C	Deletion	ADRA2C-related disorder	GLikely benign
Select item 2220740	NM_000683.4(ADRA2C):c.941G>C (p.Gly314Ala)	ADRA2C (G314A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654606	NM_000683.4(ADRA2C):c.951T>C (p.Gly317=)	ADRA2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2390739	NM_000683.4(ADRA2C):c.956A>G (p.Asp319Gly)	ADRA2C (D319G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 18160	NM_000683.4(ADRA2C):c.971_982del (p.Gly324_Ala327del)	ADRA2C	Deletion (inframe_deletion)	RECLASSIFIED - ADRB1 POLYMORPHISM	GBenign
Select item 741014	NM_000683.4(ADRA2C):c.972G>A (p.Gly324=)	ADRA2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2256108	NM_000683.4(ADRA2C):c.994G>A (p.Ala332Thr)	ADRA2C (A332T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399081	NM_000683.4(ADRA2C):c.995C>T (p.Ala332Val)	ADRA2C (A332V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060490	NM_000683.4(ADRA2C):c.996G>A (p.Ala332=)	ADRA2C	Single nucleotide variant (synonymous variant)	ADRA2C-related disorder	GBenign
Select item 3050754	NM_000683.4(ADRA2C):c.1015C>T (p.Pro339Ser)	ADRA2C (P339S)	Single nucleotide variant (missense variant)	ADRA2C-related disorder	GBenign
Select item 3273882	NM_000683.4(ADRA2C):c.1024G>A (p.Gly342Ser)	ADRA2C (G342S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467433	NM_000683.4(ADRA2C):c.1025G>T (p.Gly342Val)	ADRA2C (G342V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273889	NM_000683.4(ADRA2C):c.1108C>T (p.Arg370Cys)	ADRA2C (R370C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060026	NM_000683.4(ADRA2C):c.1167C>T (p.Gly389=)	ADRA2C	Single nucleotide variant (synonymous variant)	ADRA2C-related disorder	GBenign
Select item 2357563	NM_000683.4(ADRA2C):c.1174G>A (p.Val392Met)	ADRA2C (V392M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic

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