ARRDC2[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	LOC130063908, LOC130063909 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	LOC130064107, LOC130064108 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	ABHD8, ANKLE1 +625 more	Copy number gain	See cases	GPathogenic
Select item 60074	GRCh38/hg38 19p13.11(chr19:17922234-18463153)x1	ARRDC2, CCDC124 +85 more	Copy number loss	See cases	GPathogenic
Select item 2254127	NM_001025604.3(ARRDC2):c.5G>A (p.Arg2His)	ARRDC2, LOC130063969 (R2H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206101	NM_001025604.3(ARRDC2):c.28G>C (p.Ala10Pro)	ARRDC2, LOC130063969 (A10P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465661	NM_015683.2(ARRDC2):c.64C>T (p.Pro22Ser)	ARRDC2, LOC130063970 (P22S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494242	NM_015683.2(ARRDC2):c.98G>A (p.Arg33Gln)	ARRDC2, LOC130063970 (R33Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215476	NM_015683.2(ARRDC2):c.194C>G (p.Ala65Gly)	ARRDC2 (A65G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489487	NM_015683.2(ARRDC2):c.382C>A (p.Arg128Ser)	ARRDC2 (R123S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477495	NM_015683.2(ARRDC2):c.440A>G (p.Lys147Arg)	ARRDC2 (K147R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556918	NM_015683.2(ARRDC2):c.524G>A (p.Arg175Gln)	ARRDC2 (R170Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456268	NM_015683.2(ARRDC2):c.560C>T (p.Ser187Leu)	ARRDC2 (S182L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409066	NM_015683.2(ARRDC2):c.571G>A (p.Asp191Asn)	ARRDC2 (D191N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470040	NM_015683.2(ARRDC2):c.574C>G (p.Arg192Gly)	ARRDC2 (R187G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211148	NM_015683.2(ARRDC2):c.574C>T (p.Arg192Cys)	ARRDC2 (R192C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462023	NM_015683.2(ARRDC2):c.617A>G (p.Glu206Gly)	ARRDC2 (E201G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471369	NM_015683.2(ARRDC2):c.695C>T (p.Ala232Val)	ARRDC2 (A227V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129857	NM_015683.2(ARRDC2):c.742G>C (p.Val248Leu)	ARRDC2 (V243L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471031	NM_015683.2(ARRDC2):c.775C>T (p.Arg259Trp)	ARRDC2 (R259W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338888	NM_015683.2(ARRDC2):c.778G>A (p.Ala260Thr)	ARRDC2 (A260T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491902	NM_015683.2(ARRDC2):c.784C>T (p.Arg262Trp)	ARRDC2 (R262W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2920783	NM_015683.2(ARRDC2):c.785G>A (p.Arg262Gln)	ARRDC2 (R257Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2533139	NM_015683.2(ARRDC2):c.796G>A (p.Val266Met)	ARRDC2 (V261M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386679	NM_015683.2(ARRDC2):c.997C>A (p.Pro333Thr)	ARRDC2 (P333T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129854	NM_015683.2(ARRDC2):c.1090G>A (p.Asp364Asn)	ARRDC2 (D359N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273180	NM_015683.2(ARRDC2):c.1093C>G (p.Pro365Ala)	ARRDC2 (P360A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352877	NM_015683.2(ARRDC2):c.1142G>A (p.Arg381His)	ARRDC2 (R376H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129856	NM_015683.2(ARRDC2):c.1151C>T (p.Pro384Leu)	ARRDC2 (P379L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603794	NM_015683.2(ARRDC2):c.1154C>T (p.Pro385Leu)	ARRDC2 (P380L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304710	NM_015683.2(ARRDC2):c.1157C>T (p.Pro386Leu)	ARRDC2 (P381L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601907	NM_015683.2(ARRDC2):c.1205C>T (p.Pro402Leu)	ARRDC2 (P401L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ARMC6, ARRDC2 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 38