ARRDC4[gene] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC111822949, LOC112272574 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057971, LOC130057972 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	LOC130057938, LOC130057939 +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	LOC130057962, LOC130057963 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130058025, LOC130058026 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	ABHD2, ACAN +311 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 152930	GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3	ADAMTS17, ALDH1A3 +228 more	Copy number gain	See cases	GPathogenic
Select item 144251	GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1	ADAMTS17, ALDH1A3 +224 more	Copy number loss	See cases	GPathogenic
Select item 155620	GRCh38/hg38 15q26.2-26.3(chr15:93805032-101326876)x1	ADAMTS17, ALDH1A3 +205 more	Copy number loss	See cases	GPathogenic
Select item 57195	GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3	ADAMTS17, ALDH1A3 +218 more	Copy number gain	See cases	GPathogenic
Select item 147708	GRCh38/hg38 15q26.2-26.3(chr15:95770627-101810992)x1	LOC130058035, LOC130058036 +202 more	Copy number loss	See cases	GPathogenic
Select item 155021	GRCh38/hg38 15q26.2-26.3(chr15:96024127-101920998)x1	LOC126862250, LOC126862251 +203 more	Copy number loss	See cases	GPathogenic
Select item 59388	GRCh38/hg38 15q26.2-26.3(chr15:96069425-101849578)x1	ADAMTS17, ALDH1A3 +201 more	Copy number loss	See cases	GPathogenic
Select item 59402	GRCh38/hg38 15q26.2-26.3(chr15:96329791-101849578)x1	ADAMTS17, ALDH1A3 +195 more	Copy number loss	See cases	GPathogenic
Select item 146071	GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1	ADAMTS17, ALDH1A3 +184 more	Copy number loss	See cases	GPathogenic
Select item 152750	GRCh38/hg38 15q26.2-26.3(chr15:97172754-101920998)x1	ADAMTS17, ALDH1A3 +185 more	Copy number loss	See cases	GPathogenic
Select item 151982	GRCh38/hg38 15q26.2-26.3(chr15:97283711-101920998)x3	ADAMTS17, ALDH1A3 +184 more	Copy number gain	See cases	GLikely pathogenic
Select item 155109	GRCh38/hg38 15q26.2-26.3(chr15:97681713-101920998)x1	ADAMTS17, ALDH1A3 +179 more	Copy number loss	See cases	GPathogenic
Select item 59404	GRCh38/hg38 15q26.2-26.3(chr15:97735430-101810992)x1	ADAMTS17, ALDH1A3 +174 more	Copy number loss	See cases	GPathogenic
Select item 148277	GRCh38/hg38 15q26.2-26.3(chr15:97783828-100780256)x3	ADAMTS17, ARRDC4 +111 more	Copy number gain	See cases	GLikely pathogenic
Select item 150870	GRCh38/hg38 15q26.2-26.3(chr15:97941427-101797926)x1	ADAMTS17, ALDH1A3 +171 more	Copy number loss	See cases	GPathogenic
Select item 2550212	NM_183376.3(ARRDC4):c.170T>A (p.Leu57Gln)	ARRDC4 (L57Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272941	NM_183376.3(ARRDC4):c.227C>T (p.Ser76Leu)	ARRDC4 (S76L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1231421	NM_183376.3(ARRDC4):c.231C>T (p.Ala77=)	ARRDC4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2245664	NM_183376.3(ARRDC4):c.233G>A (p.Ser78Asn)	ARRDC4 (S78N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1267779	NM_183376.3(ARRDC4):c.235A>G (p.Thr79Ala)	ARRDC4 (T79A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2240645	NM_183376.3(ARRDC4):c.320T>G (p.Ile107Ser)	ARRDC4 (I107S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715037	NM_183376.3(ARRDC4):c.417G>C (p.Gln139His)	ARRDC4 (Q139H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2254128	NM_183376.3(ARRDC4):c.424G>A (p.Val142Met)	ARRDC4 (V142M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376760	NM_183376.3(ARRDC4):c.459T>A (p.Asp153Glu)	ARRDC4 (D153E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351568	NM_183376.3(ARRDC4):c.635T>C (p.Ile212Thr)	ARRDC4 (I212T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461502	NM_183376.3(ARRDC4):c.754G>A (p.Ala252Thr)	ARRDC4 (A252T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363593	NM_183376.3(ARRDC4):c.758A>G (p.Asn253Ser)	ARRDC4 (N253S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608081	NM_183376.3(ARRDC4):c.785G>A (p.Gly262Glu)	ARRDC4 (G262E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529116	NM_183376.3(ARRDC4):c.793G>C (p.Asp265His)	ARRDC4 (D265H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609848	NM_183376.3(ARRDC4):c.853T>C (p.Cys285Arg)	ARRDC4 (C285R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713145	NM_183376.3(ARRDC4):c.883-5A>T	ARRDC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2379825	NM_183376.3(ARRDC4):c.953A>G (p.Tyr318Cys)	ARRDC4 (Y318C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491866	NM_183376.3(ARRDC4):c.1115C>T (p.Pro372Leu)	ARRDC4, LOC126862240 (P372L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455222	NM_183376.3(ARRDC4):c.1165G>A (p.Glu389Lys)	ARRDC4, LOC126862240 (E389K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394040	NM_183376.3(ARRDC4):c.1237C>T (p.Pro413Ser)	ARRDC4, LOC126862240 (P413S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063384	GRCh37/hg19 15q26.1-26.3(chr15:94176550-102429112)x3	ADAMTS17, ALDH1A3 +23 more	Copy number gain	not specified	GPathogenic
Select item 3063383	GRCh37/hg19 15q26.2-26.3(chr15:94300072-101810099)x1	ADAMTS17, ALDH1A3 +16 more	Copy number loss	not specified	GPathogenic
Select item 2671596	Single allele	ARRDC4, NR2F2 +1 more	Duplication	not provided	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	SEC11A, SELENOS +86 more	Copy number gain	not provided	GPathogenic
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1526472	GRCh37/hg19 15q26.2-26.3(chr15:97223728-102429112)	ADAMTS17, ALDH1A3 +21 more	Copy number loss	not specified	GPathogenic
Select item 1526471	GRCh37/hg19 15q26.2-26.3(chr15:97026327-102429112)	ADAMTS17, ALDH1A3 +21 more	Copy number loss	not specified	GPathogenic
Select item 1526470	GRCh37/hg19 15q26.2-26.3(chr15:94836128-101302111)	ADAMTS17, ARRDC4 +13 more	Copy number loss	not specified	GPathogenic
Select item 1180505	GRCh37/hg19 15q26.1-26.3(chr15:92335751-102399741)x1	ADAMTS17, ALDH1A3 +29 more	Copy number loss	not provided	GPathogenic
Select item 983158	GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	ABHD2, ACAN +77 more	Copy number loss	See cases	GPathogenic
Select item 980644	GRCh37/hg19 15q26.2-26.3(chr15:97967733-98665757)x1	ARRDC4	Copy number loss	not provided	GUncertain significance
Select item 980643	GRCh37/hg19 15q26.2-26.3(chr15:98275761-102358202)x1	ALDH1A3, SYNM +19 more	Copy number loss	not provided	GPathogenic
Select item 815753	GRCh37/hg19 15q26.2-26.3(chr15:97242441-98823437)x3	ARRDC4, SPATA8	Copy number gain	not provided	GUncertain significance
Select item 815743	GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1	ABHD2, ACAN +76 more	Copy number loss	not provided	GPathogenic
Select item 805881	GRCh37/hg19 15q26.2-26.3(chr15:96878099-102397836)x1	CHSY1, SELENOS +22 more	Copy number loss	Chromosome 15q26-qter deletion syndrome	GPathogenic
Select item 686177	GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3	ADAMTS17, ALDH1A3 +54 more	Copy number gain	not provided	GPathogenic
Select item 625753	GRCh37/hg19 15q26.2-26.3(chr15:96873212-102389423)	ADAMTS17, ALDH1A3 +22 more	Copy number loss	not provided	GPathogenic
Select item 564232	GRCh37/hg19 15q26.2-26.3(chr15:98144229-99857338)x1	PGPEP1L, ARRDC4 +4 more	Copy number loss	not provided	GLikely pathogenic
Select item 564229	GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3	ABHD2, ADAMTS17 +66 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 443865	GRCh37/hg19 15q26.1-26.3(chr15:93148806-102429112)x3	ADAMTS17, ALDH1A3 +26 more	Copy number gain	See cases	GPathogenic
Select item 443650	GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3	ABHD2, ACAN +55 more	Copy number gain	See cases	GLikely pathogenic
Select item 443543	GRCh37/hg19 15q26.2-26.3(chr15:96913435-102429112)x1	ADAMTS17, ALDH1A3 +21 more	Copy number loss	See cases	GPathogenic
Select item 443542	GRCh37/hg19 15q26.2-26.3(chr15:95136822-102045577)x1	ADAMTS17, ALDH1A3 +18 more	Copy number loss	See cases	GPathogenic
Select item 443491	GRCh37/hg19 15q26.2-26.3(chr15:97549226-98888430)x1	ARRDC4	Copy number loss	See cases	GUncertain significance
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +154 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442426	GRCh37/hg19 15q26.2-26.3(chr15:98220018-102429112)x1	ADAMTS17, ALDH1A3 +20 more	Copy number loss	See cases	GPathogenic
Select item 395722	GRCh37/hg19 15q26.2-26.3(chr15:95202449-98779894)	ARRDC4, NR2F2 +1 more	Copy number gain	See cases	GPathogenic
Select item 395560	GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3	ABHD2, ACAN +79 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 395056	GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798)	ADAMTS17, ALDH1A3 +51 more	Copy number loss	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic
Select item 394871	GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3	ABHD2, ACAN +87 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253671	GRCh37/hg19 15q26.1-26.3(chr15:92197136-102354857)x1	ALDH1A3, SNRPA1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253543	GRCh37/hg19 15q26.2-26.3(chr15:98458265-102354857)x1	IGF1R, PCSK6 +19 more	Copy number loss	See cases	GPathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic
Select item 221506	GRCh37/hg19 15q26.2-26.3(chr15:96869560-99486217)x3	ARRDC4, IGF1R +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 88