ACTR3[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3142426	NM_005721.5(ACTR3):c.45G>T (p.Gly15=)	ACTR3	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2459469	NM_005721.5(ACTR3):c.199A>G (p.Ile67Val)	ACTR3 (I16V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610235	NM_005721.5(ACTR3):c.239A>G (p.His80Arg)	ACTR3 (H80R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306014	NM_005721.5(ACTR3):c.683A>T (p.Lys228Met)	ACTR3 (K177M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237605	NM_005721.5(ACTR3):c.779A>G (p.Asn260Ser)	ACTR3 (N209S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556048	NM_005721.5(ACTR3):c.811G>A (p.Val271Ile)	ACTR3 (V271I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783339	NM_005721.5(ACTR3):c.858+12dup	ACTR3	Duplication (intron variant)	not provided	GBenign
Select item 3142436	NM_005721.5(ACTR3):c.908T>C (p.Val303Ala)	ACTR3 (V252A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 1809409	GRCh37/hg19 2q14.1(chr2:114421344-115872943)x3	ACTR3, DPP10 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526888	GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)	ACTR3, BIN1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1340383	GRCh37/hg19 2q13-14.1(chr2:113609489-115817535)x3	ACTR3, CBWD2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 562675	GRCh37/hg19 2q14.1-14.3(chr2:114707932-124328692)x1	STEAP3, PTPN4 +23 more	Copy number loss	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442204	GRCh37/hg19 2q13-14.3(chr2:114056441-123673800)x1	FOXD4L1, ACTR3 +27 more	Copy number loss	See cases	GPathogenic
Select item 253673	GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1	BUB1, PSD4 +53 more	Copy number loss	See cases	GPathogenic
Select item 253541	GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1	TMEM87B, IL37 +40 more	Copy number loss	See cases	GPathogenic
Select item 253388	GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1	RGPD8, ACTR3 +63 more	Copy number loss	See cases	GPathogenic

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Items: 24