RND3[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic
Select item 60217	GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1	ACVR2A, ARL5A +119 more	Copy number loss	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 59939	GRCh38/hg38 2q23.3(chr2:150307696-150845346)x1	LINC01818, LINC01920 +11 more	Copy number loss	See cases	GUncertain significance
Select item 2672293	NM_005168.5(RND3):c.692C>T (p.Thr231Met)	RND3 (T231M)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2277831	NM_005168.5(RND3):c.641C>G (p.Thr214Arg)	RND3 (T214R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154892	NM_005168.5(RND3):c.619C>T (p.Arg207Trp)	RND3 (R207W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393259	NM_005168.5(RND3):c.574G>A (p.Val192Ile)	RND3 (V192I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455381	NM_005168.5(RND3):c.556G>A (p.Val186Ile)	RND3 (V186I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773487	NM_005168.5(RND3):c.552T>C (p.Asn184=)	RND3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2466340	NM_005168.5(RND3):c.496G>A (p.Ala166Thr)	RND3 (A166T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468763	NM_005168.5(RND3):c.494T>C (p.Met165Thr)	RND3 (M165T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488366	NM_005168.5(RND3):c.439G>A (p.Val147Ile)	RND3 (V147I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243322	NM_005168.5(RND3):c.149A>C (p.Glu50Ala)	RND3 (E50A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154893	NM_005168.5(RND3):c.64G>A (p.Val22Met)	RND3 (V22M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783122	NM_005168.5(RND3):c.15A>G (p.Arg5=)	RND3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2685864	GRCh37/hg19 2q23.3(chr2:151235803-151873685)x3	RND3	Copy number gain	not provided	GUncertain significance
Select item 2684742	GRCh37/hg19 2q22.3-23.3(chr2:148406827-152954124)x1	ACVR2A, ARL5A +13 more	Copy number loss	not provided	GPathogenic
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 1526921	GRCh37/hg19 2q23.3(chr2:150606201-153038451)	ARL5A, CACNB4 +7 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526906	GRCh37/hg19 2q22.2-23.3(chr2:143258712-152867819)	ACVR2A, ARHGAP15 +17 more	Copy number loss	not specified	GPathogenic
Select item 1341063	GRCh37/hg19 2q22.2-23.3(chr2:142409401-152680804)x3	ACVR2A, ARHGAP15 +17 more	Copy number gain	not provided	GPathogenic
Select item 1047890	GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396)	ACVR2A, ARHGAP15 +28 more	Copy number gain	Global developmental delay +2 more	GPathogenic
Select item 814325	GRCh37/hg19 2q23.3(chr2:151064059-151451237)x3	RND3	Copy number gain	not provided	GUncertain significance
Select item 814314	GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1	ARL6IP6, CACNB4 +25 more	Copy number loss	not provided	GPathogenic
Select item 562665	GRCh37/hg19 2q23.2-23.3(chr2:150134077-154848282)x1	ARL5A, ARL6IP6 +14 more	Copy number loss	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 442694	GRCh37/hg19 2q22.3-23.3(chr2:146913477-151531586)x1	ACVR2A, EPC2 +6 more	Copy number loss	See cases	GPathogenic
Select item 395440	GRCh37/hg19 2q23.1-23.3(chr2:148842506-152370040)x1	EPC2, LYPD6 +9 more	Copy number loss	See cases	GPathogenic

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Items: 33