DEPDC4[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 148826	GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3	ACTR6, ANKS1B +91 more	Copy number gain	See cases	GLikely pathogenic
Select item 59817	GRCh38/hg38 12q23.1(chr12:100078579-100273980)x3	ACTR6, BLTP3B +16 more	Copy number gain	See cases	GPathogenic
Select item 2396932	NM_001364818.2(DEPDC4):c.676C>A (p.Pro226Thr)	DEPDC4 (P226T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081743	NM_001364818.2(DEPDC4):c.611T>C (p.Ile204Thr)	DEPDC4 (I137T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2337064	NM_001364818.2(DEPDC4):c.599G>T (p.Gly200Val)	DEPDC4 (G133V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517242	NM_001364818.2(DEPDC4):c.587C>T (p.Ala196Val)	DEPDC4 (A196V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2316909	NM_001364818.2(DEPDC4):c.418A>G (p.Lys140Glu)	DEPDC4 (K73E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2251923	NM_001364818.2(DEPDC4):c.414G>T (p.Met138Ile)	DEPDC4 (M71I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2308999	NM_001364818.2(DEPDC4):c.375A>C (p.Gln125His)	DEPDC4 (Q125H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2549496	NM_001364818.2(DEPDC4):c.355A>G (p.Lys119Glu)	DEPDC4 (K119E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081741	NM_001364818.2(DEPDC4):c.314T>G (p.Met105Arg)	DEPDC4 (M105R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2328451	NM_001364818.2(DEPDC4):c.262A>G (p.Lys88Glu)	DEPDC4 (K88E)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2363736	NM_001364818.2(DEPDC4):c.194A>C (p.Asp65Ala)	DEPDC4 (D65A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3271630	NM_001364818.2(DEPDC4):c.169C>A (p.Pro57Thr)	DEPDC4 (P57T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2260851	NM_001364818.2(DEPDC4):c.154A>G (p.Thr52Ala)	DEPDC4, LOC130008539 (T52A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2228351	NM_001364818.2(DEPDC4):c.85C>T (p.Leu29Phe)	DEPDC4, LOC130008539 (L29F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3271631	NM_001364818.2(DEPDC4):c.50C>T (p.Thr17Ile)	DEPDC4 (T17I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081742	NM_001364818.2(DEPDC4):c.37G>C (p.Ala13Pro)	DEPDC4 (A13P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081740	NM_001364818.2(DEPDC4):c.22G>C (p.Ala8Pro)	DEPDC4 (A8P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081739	NM_001364818.2(DEPDC4):c.17A>G (p.Glu6Gly)	DEPDC4 (E6G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1527728	GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	ACTR6, ALDH1L2 +39 more	Copy number gain	not specified	GUncertain significance
Select item 1527727	GRCh37/hg19 12q23.1-23.2(chr12:100564593-103021075)	ACTR6, ANO4 +19 more	Copy number loss	not specified	GUncertain significance
Select item 687225	GRCh37/hg19 12q23.1(chr12:100455466-100697174)x3	ACTR6, BLTP3B +2 more	Copy number gain	not provided	GUncertain significance
Select item 687126	GRCh37/hg19 12q23.1(chr12:100185181-100736359)x1	ACTR6, ANKS1B +3 more	Copy number loss	not provided	GUncertain significance
Select item 563984	GRCh37/hg19 12q23.1(chr12:96719383-101537641)x3	ACTR6, ANKS1B +16 more	Copy number gain	not provided	GLikely pathogenic
Select item 563969	GRCh37/hg19 12q23.1(chr12:99725136-100857873)x3	ACTR6, ANKS1B +5 more	Copy number gain	not provided	GUncertain significance
Select item 563938	GRCh37/hg19 12q23.1(chr12:100340426-100726200)x1	UHRF1BP1L, SCYL2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 32