ClinVar for Gene (Select 5710) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310996	NM_002810.4(PSMD4):c.127A>G (p.Ser43Gly)	PSMD4 (S43G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220451	NM_002810.4(PSMD4):c.775G>A (p.Ala259Thr)	PSMD4 (A259T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220450	NM_002810.4(PSMD4):c.523C>T (p.Pro175Ser)	PSMD4 (P175S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220449	NM_002810.4(PSMD4):c.507T>G (p.His169Gln)	PSMD4 (H169Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220448	NM_002810.4(PSMD4):c.42G>T (p.Glu14Asp)	PSMD4 (E14D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220447	NM_002810.4(PSMD4):c.1128G>C (p.Lys376Asn)	PSMD4 (K376N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2613203	NM_002810.4(PSMD4):c.817A>G (p.Thr273Ala)	PSMD4 (T276A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2406728	NM_002810.4(PSMD4):c.323G>A (p.Arg108His)	PSMD4 (R108H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383810	NM_002810.4(PSMD4):c.814C>T (p.Arg272Cys)	PSMD4 (R275C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316203	NM_002810.4(PSMD4):c.688C>T (p.Arg230Trp)	PSMD4 (R230W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283784	NM_002810.4(PSMD4):c.793A>G (p.Ile265Val)	PSMD4 (I268V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279274	NM_002810.4(PSMD4):c.163G>T (p.Ala55Ser)	PSMD4 (A55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268643	NM_002810.4(PSMD4):c.406G>A (p.Val136Ile)	PSMD4 (V136I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234870	NM_002810.4(PSMD4):c.776C>A (p.Ala259Asp)	PSMD4 (A259D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219073	NM_002810.4(PSMD4):c.476C>T (p.Thr159Met)	PSMD4 (T159M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527282	GRCh37/hg19 1q21.3(chr1:151179825-151377786)	PI4KB, PIP5K1A +6 more	Copy number loss	not specified	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	HCN3, HDGF +228 more	Duplication	Kostmann syndrome +3 more	GUncertain significance
Select item 1023952	NC_000001.10:g.(?_151122490)_(151585008_?)dup	PSMB4, PIP5K1A +14 more	Duplication	Severe myoclonic epilepsy in infancy	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 779221	NM_002810.4(PSMD4):c.750G>A (p.Thr250=)	PSMD4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771118	NM_002810.4(PSMD4):c.276G>C (p.Val92=)	PSMD4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	ACP6, ADAMTSL4 +103 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
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 150034	GRCh38/hg38 1q21.3(chr1:150989333-151584777)x1	ANXA9, BNIPL +59 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 31