ARRDC3[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 3235905	GRCh38/hg38 5q14.3(chr5:86235182-91734581)	ADGRV1, ARRDC3 +119 more	Copy number loss	5q14.3 microdeletion	GPathogenic
Select item 59630	GRCh38/hg38 5q14.3(chr5:86743723-92337264)x1	ADGRV1, ARRDC3 +117 more	Copy number loss	See cases	GPathogenic
Select item 152918	GRCh38/hg38 5q14.3(chr5:86766959-92148845)x1	ADGRV1, ARRDC3 +116 more	Copy number loss	See cases	GPathogenic
Select item 58097	GRCh38/hg38 5q14.3-15(chr5:87124838-93383020)x3	ADGRV1, ARRDC3 +120 more	Copy number gain	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	LOC110120974, LOC110120977 +277 more	Copy number loss	See cases	GPathogenic
Select item 2579178	GRCh38/hg38 5q14.3-15(chr5:88189536-93784597)x1	ADGRV1, ARB2A +116 more	Copy number loss	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 147564	GRCh38/hg38 5q14.3-15(chr5:88197732-93193163)x3	LOC110120688, LOC110120744 +99 more	Copy number gain	See cases	GPathogenic
Select item 152422	GRCh38/hg38 5q14.3(chr5:88368289-92363231)x1	LOC110120744, LOC110120771 +86 more	Copy number loss	See cases	GPathogenic
Select item 59633	GRCh38/hg38 5q14.3-15(chr5:88936770-94102018)x1	ADGRV1, ARB2A +96 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 2387656	NM_020801.4(ARRDC3):c.1241G>A (p.Arg414His)	ARRDC3 (R194H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316328	NM_020801.4(ARRDC3):c.1240C>T (p.Arg414Cys)	ARRDC3 (R194C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476253	NM_020801.4(ARRDC3):c.1201C>G (p.Pro401Ala)	ARRDC3 (P181A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401628	NM_020801.4(ARRDC3):c.1189A>G (p.Ile397Val)	ARRDC3 (I177V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316317	NM_020801.4(ARRDC3):c.1147A>G (p.Ile383Val)	ARRDC3 (I163V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129858	NM_020801.4(ARRDC3):c.1037C>T (p.Pro346Leu)	ARRDC3 (P126L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 92008	NM_020801.4(ARRDC3):c.1022A>G (p.Glu341Gly)	ARRDC3 (E341G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 746406	NM_020801.4(ARRDC3):c.837C>T (p.Asp279=)	ARRDC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2233973	NM_020801.4(ARRDC3):c.737T>C (p.Leu246Pro)	ARRDC3 (L246P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304897	NM_020801.4(ARRDC3):c.679G>A (p.Ala227Thr)	ARRDC3 (A7T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129859	NM_020801.4(ARRDC3):c.608C>A (p.Thr203Asn)	ARRDC3 (T203N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2616658	NM_020801.4(ARRDC3):c.560C>T (p.Thr187Ile)	ARRDC3 (T187I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 768019	NM_020801.4(ARRDC3):c.453A>G (p.Lys151=)	ARRDC3	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GBenign
Select item 2552260	NM_020801.4(ARRDC3):c.433C>T (p.Pro145Ser)	ARRDC3 (P145S)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2342446	NM_020801.4(ARRDC3):c.404G>A (p.Arg135His)	ARRDC3 (R135H)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3316306	NM_020801.4(ARRDC3):c.325A>G (p.Arg109Gly)	ARRDC3 (R109G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2387612	NM_020801.4(ARRDC3):c.311C>T (p.Thr104Ile)	ARRDC3 (T104I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2238966	NM_020801.4(ARRDC3):c.70T>C (p.Tyr24His)	ARRDC3, ARRDC3-AS1 (Y24H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3148929	GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3	ADGRV1, ARB2A +34 more	Copy number gain	See cases	GUncertain significance
Select item 1707717	NC_000005.9:g.(?_88625195)_(90796047_?)inv	LYSMD3, MBLAC2 +6 more	Inversion	Intellectual disability, autosomal dominant 20	GPathogenic
Select item 980161	GRCh37/hg19 5q14.3(chr5:90218695-91499978)x3	ADGRV1, ARRDC3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 830751	NC_000005.10:g.(?_90965415)_(91383092_?)del	ADGRV1, ARRDC3 +1 more	Deletion	not provided	GLikely pathogenic
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563090	GRCh37/hg19 5q14.3-15(chr5:90664386-93537229)x3	POU5F2, ARRDC3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 563087	GRCh37/hg19 5q14.3-15(chr5:87399001-92675748)x3	ADGRV1, MIR9-2 +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	HARS1, HARS2 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 45