COMMD7[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 2340070	NM_053041.3(COMMD7):c.538C>T (p.Pro180Ser)	COMMD7 (P180S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777539	NM_053041.3(COMMD7):c.526+3G>A	COMMD7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2205023	NM_053041.3(COMMD7):c.511G>A (p.Glu171Lys)	COMMD7 (E170K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485288	NM_053041.3(COMMD7):c.503A>G (p.Asn168Ser)	COMMD7 (N167S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373673	NM_053041.3(COMMD7):c.500G>T (p.Gly167Val)	COMMD7 (G167V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514994	NM_053041.3(COMMD7):c.472T>G (p.Leu158Val)	COMMD7 (L158V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268927	NM_053041.3(COMMD7):c.434C>T (p.Ser145Phe)	COMMD7 (S145F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268926	NM_053041.3(COMMD7):c.365G>A (p.Arg122Gln)	COMMD7 (R122Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2623522	NM_053041.3(COMMD7):c.362C>T (p.Ala121Val)	COMMD7 (A121V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147917	NM_053041.3(COMMD7):c.343C>A (p.Gln115Lys)	COMMD7 (Q114K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281282	NM_053041.3(COMMD7):c.319A>G (p.Thr107Ala)	COMMD7 (T106A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371038	NM_053041.3(COMMD7):c.281C>T (p.Ala94Val)	COMMD7 (A93V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530605	NM_053041.3(COMMD7):c.196G>T (p.Gly66Cys)	COMMD7 (G66C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474257	NM_053041.3(COMMD7):c.176C>T (p.Thr59Ile)	COMMD7 (T58I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556306	NM_053041.3(COMMD7):c.128A>G (p.Glu43Gly)	COMMD7 (E43G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287569	NM_053041.3(COMMD7):c.121C>G (p.Leu41Val)	COMMD7 (L41V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147919	NM_053041.3(COMMD7):c.95C>A (p.Ala32Asp)	COMMD7 (A32D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147918	NM_053041.3(COMMD7):c.71A>G (p.Gln24Arg)	COMMD7 (Q24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062405	GRCh37/hg19 20q11.21(chr20:29917837-31886619)x3	BPIFB1, BPIFB2 +37 more	Copy number gain	not specified	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1526688	GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)	ABHD12, ACSS1 +50 more	Copy number gain	not specified	GLikely pathogenic
Select item 1457888	NC_000020.10:g.(?_31189994)_(34287210_?)del	ACSS2, ACTL10 +53 more	Deletion	not provided	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 832109	NC_000020.10:g.(?_30795725)_(31395729_?)dup	ASXL1, C20orf203 +5 more	Duplication	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	GUncertain significance
Select item 816124	GRCh37/hg19 20q11.21(chr20:31282278-31396065)x1	DNMT3B, COMMD7	Copy number loss	not provided	GUncertain significance
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic

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Items: 36