ARRDC1-AS1[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	LOC129390118, LOC130002920 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	INPP5E, KCNT1 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	LOC130003077, LOC130003078 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 155327	GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	QSOX2, RABL6 +324 more	Copy number gain	See cases	GLikely pathogenic
Select item 161082	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	LOC130003070, LOC130003071 +283 more	Copy number loss	See cases	GPathogenic
Select item 57416	GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1	ABCA2, AGPAT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 34625	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	ABCA2, AGPAT2 +283 more	Copy number loss	See cases	GPathogenic
Select item 154911	GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1	ABCA2, ANAPC2 +176 more	Copy number loss	See cases	GPathogenic
Select item 59140	GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1	ABCA2, ANAPC2 +166 more	Copy number loss	See cases	GPathogenic
Select item 59151	GRCh38/hg38 9q34.3(chr9:137215877-137830604)x1	ARRDC1, ARRDC1-AS1 +92 more	Copy number loss	See cases	GPathogenic
Select item 59141	GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1	LOC130003144, LOC130003145 +101 more	Copy number loss	See cases	GPathogenic
Select item 155260	GRCh38/hg38 9q34.3(chr9:137345965-138159083)x1	ARRDC1, ARRDC1-AS1 +67 more	Copy number loss	See cases	GPathogenic
Select item 59091	GRCh38/hg38 9q34.3(chr9:137345965-137640771)x1	ARRDC1, ARRDC1-AS1 +41 more	Copy number loss	See cases	GUncertain significance
Select item 151395	GRCh38/hg38 9q34.3(chr9:137372891-137757091)x3	ARRDC1, ARRDC1-AS1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 147707	GRCh38/hg38 9q34.3(chr9:137391682-138114463)x3	ARRDC1, ARRDC1-AS1 +66 more	Copy number gain	See cases	GPathogenic
Select item 446701	GRCh38/hg38 9q34.3(chr9:137484248-137696525)x3	ARRDC1, ARRDC1-AS1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 59152	GRCh38/hg38 9q34.3(chr9:137484248-138179445)x1	LOC130003125, LOC130003126 +49 more	Copy number loss	See cases	GPathogenic
Select item 59153	GRCh38/hg38 9q34.3(chr9:137514943-138121473)x1	ARRDC1, ARRDC1-AS1 +46 more	Copy number loss	See cases	GPathogenic
Select item 59155	GRCh38/hg38 9q34.3(chr9:137598355-138091769)x1	LOC130003141, LOC130003142 +33 more	Copy number loss	See cases	GPathogenic
Select item 627648	NC_000009.12:g.137604238_138131469dup	ARRDC1, ARRDC1-AS1 +33 more	Duplication	9q34 microduplication syndrome	GPathogenic
Select item 1208625	NR_122035.1(ARRDC1-AS1):n.142G>T	ARRDC1-AS1, EHMT1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1259050	NR_122035.1(ARRDC1-AS1):n.1T>C	ARRDC1-AS1, EHMT1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign

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Items: 40