25564[HGNC] - ClinVar

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

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154175	GRCh38/hg38 3p26.3-25.3(chr3:20213-9362037)x1	ARL8B, BHLHE40 +172 more	Copy number loss	See cases	GPathogenic
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 152808	GRCh38/hg38 3p26.3-25.3(chr3:32241-8165256)x3	ARL8B, BHLHE40 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 152256	GRCh38/hg38 3p26.3-25.3(chr3:32241-9066287)x1	ARL8B, BHLHE40 +162 more	Copy number loss	See cases	GPathogenic
Select item 151534	GRCh38/hg38 3p26.3-25.3(chr3:32241-9574994)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 150393	GRCh38/hg38 3p26.3-25.3(chr3:32241-9469506)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149555	GRCh38/hg38 3p26.3-26.1(chr3:32241-6065999)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149236	GRCh38/hg38 3p26.3-26.1(chr3:32241-7056717)x1	LOC129936092, LOC129936093 +134 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 144853	GRCh38/hg38 3p26.3-26.1(chr3:32241-5791120)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 154452	GRCh38/hg38 3p26.3-26.1(chr3:52266-5966084)x3	ARL8B, BHLHE40 +126 more	Copy number gain	See cases	GPathogenic
Select item 148015	GRCh38/hg38 3p26.3-25.3(chr3:52266-9450310)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 147496	GRCh38/hg38 3p26.3-26.1(chr3:52266-6277604)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 146281	GRCh38/hg38 3p26.3-26.1(chr3:52266-5138262)x1	ARL8B, BHLHE40 +102 more	Copy number loss	See cases	GPathogenic
Select item 57734	GRCh38/hg38 3p26.3-25.3(chr3:52266-8582037)x1	ARL8B, BHLHE40 +144 more	Copy number loss	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 150281	GRCh38/hg38 3p26.3-25.3(chr3:52747-8370373)x1	ARL8B, BHLHE40 +141 more	Copy number loss	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57738	GRCh38/hg38 3p26.3-25.3(chr3:63843-8258109)x1	ARL8B, BHLHE40 +140 more	Copy number loss	See cases	GPathogenic
Select item 57736	GRCh38/hg38 3p26.3-25.3(chr3:63843-9507969)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 57735	GRCh38/hg38 3p26.3-26.1(chr3:63843-6977502)x1	ARL8B, BHLHE40 +134 more	Copy number loss	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 57172	GRCh38/hg38 3p26.3-26.1(chr3:1984526-6852981)x1	ARL8B, BHLHE40 +120 more	Copy number loss	See cases	GPathogenic
Select item 153151	GRCh38/hg38 3p26.2-26.1(chr3:2891585-5911622)x1	ARL8B, BHLHE40 +107 more	Copy number loss	See cases	GPathogenic
Select item 147406	GRCh38/hg38 3p26.2-26.1(chr3:2920886-5861108)x1	ARL8B, BHLHE40 +107 more	Copy number loss	See cases	GPathogenic
Select item 153453	GRCh38/hg38 3p26.2-26.1(chr3:3383802-6623172)x3	ARL8B, BHLHE40 +92 more	Copy number gain	See cases	GUncertain significance
Select item 60052	GRCh38/hg38 3p26.1(chr3:4746966-5426775)x1	ARL8B, BHLHE40 +53 more	Copy number loss	See cases	GUncertain significance
Select item 148215	GRCh38/hg38 3p26.1(chr3:4803434-6476213)x3	ARL8B, BHLHE40 +54 more	Copy number gain	See cases	GUncertain significance
Select item 154593	GRCh38/hg38 3p26.1(chr3:4827431-5187097)x3	ARL8B, BHLHE40 +33 more	Copy number gain	See cases	GUncertain significance
Select item 154441	GRCh38/hg38 3p26.1(chr3:4952791-5689195)x3	ARL8B, BHLHE40 +43 more	Copy number gain	See cases	GLikely benign
Select item 3129592	NM_018184.3(ARL8B):c.73C>A (p.Leu25Ile)	ARL8B (L25I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062676	GRCh37/hg19 3p26.2-26.1(chr3:3282609-5207411)x1	ARL8B, BHLHE40 +5 more	Copy number loss	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2685019	GRCh37/hg19 3p26.3-26.1(chr3:61892-6743581)x1	ARL8B, BHLHE40 +12 more	Copy number loss	not provided	GUncertain significance
Select item 2671618	Single allele	ARL8B, ARPC4 +36 more	Deletion	not provided	GPathogenic
Select item 2671609	Single allele	ARL8B, BHLHE40 +13 more	Deletion	not provided	GPathogenic
Select item 2580893	GRCh37/hg19 3p26.2-25.3(chr3:3691505-9917651)x1	ARPC4, ARPC4-TTLL3 +29 more	Copy number loss	3p- syndrome	GPathogenic
Select item 1809392	GRCh37/hg19 3p26.1(chr3:5069922-5374881)x1	ARL8B, EDEM1	Copy number loss	not provided	GUncertain significance
Select item 1808511	GRCh37/hg19 3p26.3-26.1(chr3:2347813-6381546)x3	ARL8B, BHLHE40 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1808299	GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1	ARL8B, ARPC4 +55 more	Copy number loss	not provided	GPathogenic
Select item 1807781	GRCh37/hg19 3p26.3-25.3(chr3:61892-9769457)x1	ARL8B, BHLHE40 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807765	GRCh37/hg19 3p26.3-25.3(chr3:61892-9899605)x1	ARL8B, ARPC4 +33 more	Copy number loss	not provided	GPathogenic
Select item 1807746	GRCh37/hg19 3p26.2-26.1(chr3:3718732-5377364)x1	ARL8B, BHLHE40 +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 1803810	GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3	JAGN1, LHFPL4 +50 more	Copy number gain	not provided	GPathogenic
Select item 1526994	GRCh37/hg19 3p26.1(chr3:4876684-7615554)	ARL8B, BHLHE40 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1526966	GRCh37/hg19 3p26.3-25.3(chr3:61891-9797094)	ARL8B, BHLHE40 +27 more	Copy number loss	not specified	GPathogenic
Select item 1180543	GRCh37/hg19 3p26.3-26.1(chr3:60001-8472742)x1	ARL8B, BHLHE40 +13 more	Copy number loss	not provided	GPathogenic
Select item 1047886	GRCh37/hg19 3p26.3-26.1(chr3:73914-5940479)	ARL8B, BHLHE40 +12 more	Copy number loss	Abnormal brain morphology	GPathogenic
Select item 980633	GRCh37/hg19 3p26.1(chr3:4921390-5408983)x3	BHLHE40, EDEM1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 816593	GRCh37/hg19 3p26.3-25.3(chr3:61891-10287825)x1	ARL8B, ARPC4 +45 more	Copy number loss	not provided	GPathogenic
Select item 688515	GRCh37/hg19 3p26.3-26.1(chr3:61891-6067006)x1	ARL8B, BHLHE40 +12 more	Copy number loss	not provided	GPathogenic
Select item 687650	GRCh37/hg19 3p26.3-26.1(chr3:61891-8269583)x1	ARL8B, BHLHE40 +13 more	Copy number loss	not provided	GPathogenic
Select item 687648	GRCh37/hg19 3p26.3-26.1(chr3:61891-8269583)x1	ARL8B, BHLHE40 +13 more	Copy number loss	not provided	GPathogenic
Select item 685069	GRCh37/hg19 3p26.1(chr3:5163462-7925439)x1	GRM7, ARL8B +1 more	Copy number loss	not provided	GUncertain significance
Select item 638144	GRCh37/hg19 3p26.1(chr3:4812298-5515770)x3	ITPR1, BHLHE40 +2 more	Copy number gain	See cases	GUncertain significance
Select item 635936	Single allele	ARL8B, BHLHE40 +20 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 625697	GRCh37/hg19 3p26.3-26.1(chr3:107776-5257572)	ARL8B, BHLHE40 +12 more	Copy number loss	not provided	GPathogenic
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562743	GRCh37/hg19 3p26.1(chr3:5163403-7918601)x1	ARL8B, EDEM1 +1 more	Copy number loss	not provided	GLikely pathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 562691	GRCh37/hg19 3p26.3-25.3(chr3:61891-10104842)x1	SUMF1, TTLL3 +41 more	Copy number loss	not provided	GPathogenic
Select item 562690	GRCh37/hg19 3p26.3-26.1(chr3:61891-8173161)x1	CRBN, LRRN1 +13 more	Copy number loss	not provided	GPathogenic
Select item 562689	GRCh37/hg19 3p26.3-26.1(chr3:61891-7875536)x1	TRNT1, SUMF1 +13 more	Copy number loss	not provided	GPathogenic
Select item 562688	GRCh37/hg19 3p26.3-26.1(chr3:61891-7486254)x1	SETMAR, EDEM1 +13 more	Copy number loss	not provided	GPathogenic
Select item 562687	GRCh37/hg19 3p26.3-26.1(chr3:61891-7032830)x1	EDEM1, EGOT +13 more	Copy number loss	not provided	GPathogenic
Select item 562686	GRCh37/hg19 3p26.3-26.1(chr3:61891-5167964)x1	IL5RA, BHLHE40 +11 more	Copy number loss	not provided	GPathogenic
Select item 560068	Single allele	ITPR1, SUMF1 +4 more	Duplication	not provided	GUncertain significance
Select item 523278	GRCh37/hg19 3p26.3-26.1(chr3:93949-5427855)	ARL8B, BHLHE40 +12 more	Copy number loss	Seizure +2 more	GLikely pathogenic
Select item 443797	GRCh37/hg19 3p26.2-26.1(chr3:2930451-5953602)x1	ARL8B, BHLHE40 +10 more	Copy number loss	See cases	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 443360	GRCh37/hg19 3p26.3-26.1(chr3:61891-7456866)x1	ARL8B, BHLHE40 +13 more	Copy number loss	See cases	GPathogenic
Select item 443052	GRCh37/hg19 3p26.3-25.3(chr3:61891-8777555)x1	ARL8B, BHLHE40 +17 more	Copy number loss	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442264	GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1	ARL8B, ARPC4 +60 more	Copy number loss	See cases	GPathogenic
Select item 442243	GRCh37/hg19 3p26.3-26.1(chr3:61891-7865381)x1	SETMAR, SUMF1 +13 more	Copy number loss	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic
Select item 221431	GRCh37/hg19 3p26.1(chr3:4706901-5216065)x3	ARL8B, BHLHE40 +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221381	GRCh37/hg19 3p26.1(chr3:4726822-5164213)x4	ARL8B, BHLHE40 +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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: 91