ClinVar for Gene (Select 92714) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2471004	NM_152285.4(ARRDC1):c.403C>G (p.Pro135Ala)	ARRDC1 (P135A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470932	NM_152285.4(ARRDC1):c.1298G>C (p.Ser433Thr)	ARRDC1 (S433T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2465362	NM_152285.4(ARRDC1):c.67C>T (p.Pro23Ser)	ARRDC1, LOC130003132 (P23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460940	NM_152285.4(ARRDC1):c.1133C>T (p.Thr378Ile)	ARRDC1 (T378I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	ABCA2, ADAMTS13 +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	ABCA2, AGPAT2 +85 more	Deletion	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425750	NC_000009.11:g.(?_140040158)_(141016451_?)del	ARRDC1, ANAPC2 +28 more	Deletion	Kleefstra syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 2423367	NC_000009.11:g.(?_139089171)_(141016451_?)del	EGFL7, PAXX +73 more	Deletion	Rafiq syndrome	GPathogenic
Select item 2388229	NM_152285.4(ARRDC1):c.204C>G (p.Asn68Lys)	ARRDC1 (N68K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387668	NM_152285.4(ARRDC1):c.524G>A (p.Arg175His)	ARRDC1 (R175H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384156	NM_152285.4(ARRDC1):c.1094C>G (p.Pro365Arg)	ARRDC1 (P365R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380088	NM_152285.4(ARRDC1):c.1025G>A (p.Arg342Gln)	ARRDC1 (R342Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2366481	NM_152285.4(ARRDC1):c.37C>T (p.His13Tyr)	ARRDC1, LOC130003132 (H13Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325950	NM_152285.4(ARRDC1):c.110C>T (p.Pro37Leu)	ARRDC1, LOC130003132 (P37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325142	NM_152285.4(ARRDC1):c.281C>T (p.Ala94Val)	ARRDC1 (A94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302186	NM_152285.4(ARRDC1):c.1042A>G (p.Thr348Ala)	ARRDC1 (T348A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2301061	NM_152285.4(ARRDC1):c.101C>T (p.Ala34Val)	ARRDC1, LOC130003132 (A34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271878	NM_152285.4(ARRDC1):c.392A>T (p.Tyr131Phe)	ARRDC1 (Y131F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270755	NM_152285.4(ARRDC1):c.1136G>A (p.Gly379Asp)	ARRDC1 (G379D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267129	NM_152285.4(ARRDC1):c.1148C>T (p.Pro383Leu)	ARRDC1 (P383L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245537	NM_152285.4(ARRDC1):c.1183A>G (p.Thr395Ala)	ARRDC1 (T395A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233007	NM_152285.4(ARRDC1):c.890T>C (p.Leu297Pro)	ARRDC1 (L297P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2231135	NM_152285.4(ARRDC1):c.356G>A (p.Arg119Gln)	ARRDC1 (R119Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224148	NM_152285.4(ARRDC1):c.881G>C (p.Arg294Pro)	ARRDC1 (R294P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204818	NM_152285.4(ARRDC1):c.1267G>A (p.Gly423Ser)	ARRDC1 (G423S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1527571	GRCh37/hg19 9q34.3(chr9:140493726-140766254)	ARRDC1, EHMT1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527569	GRCh37/hg19 9q34.3(chr9:140230197-140893129)	ARRDC1, CACNA1B +10 more	Copy number gain	not specified	GUncertain significance
Select item 1527564	GRCh37/hg19 9q34.3(chr9:138740078-141020389)	ABCA2, AGPAT2 +77 more	Copy number loss	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1341230	GRCh37/hg19 9q34.3(chr9:140475437-141020389)x3	ARRDC1, CACNA1B +3 more	Copy number gain	not provided	GUncertain significance
Select item 1341106	GRCh37/hg19 9q34.3(chr9:140357902-140602791)x3	ARRDC1, DPH7 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1047897	GRCh37/hg19 9q34.3(chr9:139284464-141018984)	CCDC183, LRRC26 +68 more	Copy number loss	Cryptorchidism +1 more	GPathogenic
Select item 997822	Single allele	NDOR1, DPP7 +45 more	Deletion	Epilepsy +1 more	GPathogenic
Select item 986753	NC_000009.11:g.(?_139018777)_(141018984_?)del	LINC02908, LOC651337 +73 more	Deletion	Kleefstra syndrome 1	GPathogenic
Select item 980357	GRCh37/hg19 9q34.3(chr9:140458395-140638045)x1	EHMT1, ZMYND19 +2 more	Copy number loss	not provided	GPathogenic
Select item 831360	NC_000009.11:g.(?_138645763)_(140729425_?)del	CIMIP2A, CLIC3 +77 more	Deletion	Developmental and epileptic encephalopathy, 14 +2 more	GConflicting classifications of pathogenicity
Select item 830975	NC_000009.12:g.(?_137139467)_(137834973_?)del	ANAPC2, ARRDC1 +27 more	Deletion	Kleefstra syndrome 1	GPathogenic
Select item 815304	GRCh37/hg19 9q34.3(chr9:140401671-141020389)x1	ARRDC1, CACNA1B +6 more	Copy number loss	not provided	GPathogenic
Select item 813716	GRCh37/hg19 9q34.3(chr9:138225001-141015001)	ABCA2, AGPAT2 +88 more	Copy number loss	Microcephaly	GPathogenic
Select item 810490	GRCh37/hg19 9q34.3(chr9:140391637-140964215)x3	LOC651337, MRPL41 +6 more	Copy number gain	not provided	GUncertain significance
Select item 688731	GRCh37/hg19 9q34.3(chr9:140352402-140600693)x3	ARRDC1, DPH7 +5 more	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 686698	GRCh37/hg19 9q34.3(chr9:140064816-140759229)x3	ANAPC2, ARRDC1 +25 more	Copy number gain	not provided	GUncertain significance
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 627648	NC_000009.12:g.137604238_138131469dup	ARRDC1, ARRDC1-AS1 +33 more	Duplication	9q34 microduplication syndrome	GPathogenic
Select item 563671	GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3	ABCA2, ABO +130 more	Copy number gain	not provided	GPathogenic
Select item 563648	GRCh37/hg19 9q34.3(chr9:140366594-141020389)x1	PNPLA7, ARRDC1 +6 more	Copy number loss	not provided	GPathogenic
Select item 563643	GRCh37/hg19 9q34.3(chr9:140447917-141020389)x1	LOC651337, ZMYND19 +4 more	Copy number loss	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ISCA1, MIR32 +555 more	Copy number gain	Global developmental delay +2 more	GLikely pathogenic
Select item 523169	GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1	DPH7, OLFM1 +128 more	Copy number loss	mTOR Inhibitor response	Gdrug response
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 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 443824	GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3	ABCA2, AGPAT2 +87 more	Copy number gain	See cases	GLikely pathogenic
Select item 442899	GRCh37/hg19 9q34.3(chr9:138209358-141020389)x1	ABCA2, AGPAT2 +88 more	Copy number loss	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 395375	GRCh37/hg19 9q34.3(chr9:140309120-141018925)x1	ARRDC1, CACNA1B +10 more	Copy number loss	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 394314	GRCh37/hg19 9q34.3(chr9:140444759-140730408)x1	DPH7, ARRDC1 +5 more	Copy number loss	See cases	GPathogenic
Select item 394188	GRCh37/hg19 9q34.3(chr9:140444759-140878805)x1	ARRDC1, CACNA1B +6 more	Copy number loss	See cases	GPathogenic
Select item 393947	GRCh37/hg19 9q34.3(chr9:138222049-141018925)x1	ABCA2, AGPAT2 +88 more	Copy number loss	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 161082	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	LOC130003070, LOC130003071 +283 more	Copy number loss	See cases	GPathogenic
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	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 155260	GRCh38/hg38 9q34.3(chr9:137345965-138159083)x1	ARRDC1, ARRDC1-AS1 +67 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 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	INPP5E, KCNT1 +417 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 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
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 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	LOC130003077, LOC130003078 +405 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 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	LOC129390118, LOC130002920 +439 more	Copy number gain	See cases	GPathogenic
Select item 147707	GRCh38/hg38 9q34.3(chr9:137391682-138114463)x3	ARRDC1, ARRDC1-AS1 +66 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 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 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 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 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 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 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 59155	GRCh38/hg38 9q34.3(chr9:137598355-138091769)x1	LOC130003141, LOC130003142 +33 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 59152	GRCh38/hg38 9q34.3(chr9:137484248-138179445)x1	LOC130003125, LOC130003126 +49 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 59140	GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1	ABCA2, ANAPC2 +166 more	Copy number loss	See cases	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	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 59091	GRCh38/hg38 9q34.3(chr9:137345965-137640771)x1	ARRDC1, ARRDC1-AS1 +41 more	Copy number loss	See cases	GUncertain significance
Select item 57416	GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1	ABCA2, AGPAT2 +284 more	Copy number loss	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 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	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 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 100