RIIAD1[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 2521539	NM_007185.7(CELF3):c.218C>T (p.Thr73Met)	CELF3, RIIAD1 (T73M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289487	NM_007185.7(CELF3):c.134G>T (p.Gly45Val)	CELF3, RIIAD1 (G45V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2340782	NM_001144956.3(RIIAD1):c.16G>C (p.Gly6Arg)	RIIAD1 (G6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314322	NM_001144956.3(RIIAD1):c.26A>G (p.Gln9Arg)	RIIAD1 (Q9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154294	NM_001144956.3(RIIAD1):c.29G>T (p.Arg10Leu)	RIIAD1 (R10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489337	NM_001144956.3(RIIAD1):c.50G>C (p.Ser17Thr)	RIIAD1 (S17T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314321	NM_001144956.3(RIIAD1):c.62T>C (p.Leu21Pro)	RIIAD1 (L21P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314323	NM_001144956.3(RIIAD1):c.125A>T (p.His42Leu)	RIIAD1 (H42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517814	NM_001144956.3(RIIAD1):c.137A>G (p.Glu46Gly)	RIIAD1 (E46G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361325	NM_001144956.3(RIIAD1):c.272C>T (p.Ala91Val)	RIIAD1 (A91V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CRTC2, KHDC4 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic

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Items: 20