281[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
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 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 more	Copy number loss	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 151000	GRCh38/hg38 10q25.2-25.3(chr10:110804735-114884010)x1	ABLIM1, ACSL5 +134 more	Copy number loss	See cases	GLikely pathogenic
Select item 145571	GRCh38/hg38 10q25.2(chr10:111034760-111593792)x3	ADRA2A, FRA10B +3 more	Copy number gain	See cases	GLikely benign
Select item 511078	NM_000681.3(ADRA2A):c.-1252G>C	ADRA2A	Single nucleotide variant	not specified	GLikely benign
Select item 1316601	NC_000010.11:g.111076814A>G	ADRA2A	Single nucleotide variant	not provided	GLikely benign
Select item 2268460	NM_000681.4(ADRA2A):c.5T>A (p.Phe2Tyr)	ADRA2A (F2Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621257	NM_000681.4(ADRA2A):c.37T>C (p.Phe13Leu)	ADRA2A (F13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542401	NM_000681.4(ADRA2A):c.103G>A (p.Gly35Arg)	ADRA2A (G35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337117	NM_000681.4(ADRA2A):c.104G>A (p.Gly35Glu)	ADRA2A (G35E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788598	NM_000681.4(ADRA2A):c.225G>C (p.Thr75=)	ADRA2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2608392	NM_000681.4(ADRA2A):c.253C>T (p.Leu85Phe)	ADRA2A (L85F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036098	NM_000681.4(ADRA2A):c.298C>T (p.Leu100Phe)	ADRA2A (L100F)	Single nucleotide variant (missense variant)	ADRA2A-related disorder	GUncertain significance
Select item 2546463	NM_000681.4(ADRA2A):c.367A>C (p.Ile123Leu)	ADRA2A (I123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713348	NM_000681.4(ADRA2A):c.381C>G (p.Leu127=)	ADRA2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2539542	NM_000681.4(ADRA2A):c.407T>C (p.Ile136Thr)	ADRA2A (I136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336507	NM_000681.4(ADRA2A):c.463G>A (p.Glu155Lys)	ADRA2A (E155K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090802	NM_000681.4(ADRA2A):c.530C>T (p.Ala177Val)	ADRA2A (A177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304090	NM_000681.4(ADRA2A):c.583G>A (p.Gly195Ser)	ADRA2A (G195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404360	NM_000681.4(ADRA2A):c.682A>G (p.Ile228Val)	ADRA2A (I228V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278128	NM_000681.4(ADRA2A):c.700A>G (p.Ile234Val)	ADRA2A (I234V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090807	NM_000681.4(ADRA2A):c.736C>G (p.Pro246Ala)	ADRA2A (P246A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2636029	NM_000681.4(ADRA2A):c.796A>G (p.Asn266Asp)	ADRA2A (N266D)	Single nucleotide variant (missense variant)	ADRA2A-related disorder	GUncertain significance
Select item 1338705	NM_000681.4(ADRA2A):c.810_827del (p.Glu271_Pro276del)	ADRA2A	Deletion (inframe_deletion)	ADRA2A-related disorder +1 more	GLikely benign
Select item 3090809	NM_000681.4(ADRA2A):c.806G>A (p.Gly269Asp)	ADRA2A (G269D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090811	NM_000681.4(ADRA2A):c.866A>G (p.Asn289Ser)	ADRA2A (N289S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281758	NM_000681.4(ADRA2A):c.871G>A (p.Ala291Thr)	ADRA2A (A291T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779122	NM_000681.4(ADRA2A):c.894C>G (p.Ala298=)	ADRA2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2391901	NM_000681.4(ADRA2A):c.895G>A (p.Gly299Arg)	ADRA2A (G299R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387356	NM_000681.4(ADRA2A):c.902G>A (p.Arg301His)	ADRA2A (R301H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218474	NM_000681.4(ADRA2A):c.991C>G (p.Arg331Gly)	ADRA2A (R331G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090778	NM_000681.4(ADRA2A):c.1061C>A (p.Ala354Glu)	ADRA2A (A354E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2457726	NM_000681.4(ADRA2A):c.1064C>T (p.Thr355Met)	ADRA2A (T355M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617755	NM_000681.4(ADRA2A):c.1072G>A (p.Gly358Arg)	ADRA2A (G358R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090789	NM_000681.4(ADRA2A):c.1073G>A (p.Gly358Glu)	ADRA2A (G358E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516764	NM_000681.4(ADRA2A):c.1373G>A (p.Arg458Gln)	ADRA2A (R458Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234569	NM_000681.4(ADRA2A):c.1376G>A (p.Gly459Glu)	ADRA2A (G459E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2691730	NM_000681.4(ADRA2A):c.*427A>G	ADRA2A	Single nucleotide variant (3 prime UTR variant)	Lipodystrophy, familial partial, type 8	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 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2580339	GRCh37/hg19 10q25.2(chr10:112021329-113054313)x3	ADRA2A, BBIP1 +7 more	Copy number gain	RASopathy	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2425354	NC_000010.10:g.(?_111860412)_(112839579_?)dup	ADD3, ADRA2A +8 more	Duplication	Cornelia de Lange syndrome 3	GUncertain significance
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1527599	GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)	C10orf95, CALHM1 +57 more	Copy number loss	not specified	GPathogenic
Select item 1340153	GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)x1	ABLIM1, ACSL5 +32 more	Copy number loss	not provided	GUncertain significance
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 63