ARRDC5[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 144751	GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	ANKRD24, ARRDC5 +145 more	Copy number gain	See cases	GUncertain significance
Select item 2302717	NM_001080523.3(ARRDC5):c.910A>G (p.Ser304Gly)	ARRDC5 (S304G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395482	NM_001080523.3(ARRDC5):c.908C>T (p.Thr303Ile)	ARRDC5 (T303I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316405	NM_001080523.3(ARRDC5):c.862C>G (p.Pro288Ala)	ARRDC5 (P310A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273604	NM_001080523.3(ARRDC5):c.830C>A (p.Thr277Asn)	ARRDC5 (T277N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129873	NM_001080523.3(ARRDC5):c.822C>G (p.Ile274Met)	ARRDC5 (I274M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240141	NM_001080523.3(ARRDC5):c.790T>G (p.Ser264Ala)	ARRDC5 (S264A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316413	NM_001080523.3(ARRDC5):c.733G>C (p.Val245Leu)	ARRDC5 (V245L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408063	NM_001080523.3(ARRDC5):c.722C>T (p.Ala241Val)	ARRDC5 (A263V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394120	NM_001080523.3(ARRDC5):c.665C>T (p.Thr222Met)	ARRDC5 (T222M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488297	NM_001080523.3(ARRDC5):c.659G>A (p.Gly220Asp)	ARRDC5 (G220D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129871	NM_001080523.3(ARRDC5):c.655G>A (p.Glu219Lys)	ARRDC5 (E219K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509260	NM_001080523.3(ARRDC5):c.620C>T (p.Thr207Met)	ARRDC5 (T207M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386368	NM_001080523.3(ARRDC5):c.617A>G (p.Lys206Arg)	ARRDC5 (K228R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510900	NM_001080523.3(ARRDC5):c.602C>T (p.Thr201Ile)	ARRDC5 (T201I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511362	NM_001080523.3(ARRDC5):c.591C>G (p.Ile197Met)	ARRDC5 (I219M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376925	NM_001080523.3(ARRDC5):c.584C>G (p.Thr195Arg)	ARRDC5 (T195R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600417	NM_001080523.3(ARRDC5):c.540G>A (p.Met180Ile)	ARRDC5 (M202I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129870	NM_001080523.3(ARRDC5):c.503G>T (p.Cys168Phe)	ARRDC5 (C168F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525998	NM_001080523.3(ARRDC5):c.403A>G (p.Arg135Gly)	ARRDC5 (R135G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129869	NM_001080523.3(ARRDC5):c.387C>G (p.His129Gln)	ARRDC5 (H129Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129868	NM_001080523.3(ARRDC5):c.376G>T (p.Gly126Cys)	ARRDC5 (G126C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517097	NM_001080523.3(ARRDC5):c.329C>T (p.Thr110Ile)	ARRDC5 (T110I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385712	NM_001080523.3(ARRDC5):c.268G>T (p.Ala90Ser)	ARRDC5 (A90S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206784	NM_001080523.3(ARRDC5):c.254A>G (p.Asp85Gly)	ARRDC5 (D85G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129867	NM_001080523.3(ARRDC5):c.220T>C (p.Tyr74His)	ARRDC5 (Y74H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511006	NM_001080523.3(ARRDC5):c.151G>A (p.Glu51Lys)	ARRDC5 (E51K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649083	NM_001080523.3(ARRDC5):c.150C>T (p.Val50=)	ARRDC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604048	NM_001080523.3(ARRDC5):c.119T>G (p.Val40Gly)	ARRDC5 (V40G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129865	NM_001080523.3(ARRDC5):c.111C>A (p.Asp37Glu)	ARRDC5 (D37E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129872	NM_001080523.3(ARRDC5):c.37G>A (p.Glu13Lys)	ARRDC5 (E13K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3129866	NM_001080523.3(ARRDC5):c.-24T>C	ARRDC5	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2518841	NM_001048201.3(UHRF1):c.-10-23G>T	ARRDC5, UHRF1 (V3F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3186266	NM_001048201.3(UHRF1):c.-10-11C>T	ARRDC5, UHRF1 (P7S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2210781	NM_001048201.3(UHRF1):c.36G>C (p.Gln12His)	ARRDC5, UHRF1 (Q25H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494138	NM_001048201.3(UHRF1):c.88C>G (p.Arg30Gly)	ARRDC5, UHRF1 (R30G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 1340547	GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1	ANKRD24, APBA3 +46 more	Copy number loss	not provided	GPathogenic
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 46