POMZP3[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 144156	GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1	LOC129998696, LOC129998697 +219 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	APTR, CCDC146 +126 more	Deletion	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 60279	GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1	APTR, CCDC146 +109 more	Copy number loss	See cases	GPathogenic
Select item 146877	GRCh38/hg38 7q11.23(chr7:75529854-76611483)x1	CCL24, CCL26 +65 more	Copy number loss	See cases	GPathogenic
Select item 146678	GRCh38/hg38 7q11.23(chr7:75529854-76626561)x3	CCL24, CCL26 +65 more	Copy number gain	See cases	GUncertain significance
Select item 148376	GRCh38/hg38 7q11.23-21.11(chr7:76440557-78180243)x3	APTR, CCDC146 +45 more	Copy number gain	See cases	GUncertain significance
Select item 147975	GRCh38/hg38 7q11.23(chr7:76509965-76928707)x1	LINC03009, LOC108228209 +4 more	Copy number loss	See cases	GBenign
Select item 147974	GRCh38/hg38 7q11.23(chr7:76509965-76928707)x3	LINC03009, LOC108228209 +4 more	Copy number gain	See cases	GBenign
Select item 149504	GRCh38/hg38 7q11.23(chr7:76509969-76882524)x3	LINC03009, LOC108228209 +4 more	Copy number gain	See cases	GLikely benign
Select item 146839	GRCh38/hg38 7q11.23(chr7:76509969-76994096)x1	LINC03009, LOC108228209 +6 more	Copy number loss	See cases	GLikely benign
Select item 146837	GRCh38/hg38 7q11.23(chr7:76509969-76994096)x3	LINC03009, LOC108228209 +6 more	Copy number gain	See cases	GBenign/Likely benign
Select item 146732	GRCh38/hg38 7q11.23(chr7:76509969-76927755)x3	LINC03009, LOC108228209 +4 more	Copy number gain	See cases	GBenign/Likely benign
Select item 157060	NC_000007.14:g.76514388_77008124dup	POMZP3, LOC108228209 +7 more	Duplication	Normal pregnancy	Gnot provided
Select item 154476	GRCh38/hg38 7q11.23(chr7:76584501-76928848)x1	LINC03009, LOC108228209 +2 more	Copy number loss	See cases	GBenign
Select item 150095	GRCh38/hg38 7q11.23(chr7:76584731-76927755)x3	LINC03009, LOC108228209 +2 more	Copy number gain	See cases	GLikely benign
Select item 149381	GRCh38/hg38 7q11.23(chr7:76584731-76882524)x3	LINC03009, LOC108228209 +2 more	Copy number gain	See cases	GLikely benign
Select item 145465	GRCh38/hg38 7q11.23(chr7:76584731-76994096)x3	LINC03009, LOC108228209 +4 more	Copy number gain	See cases	GBenign/Likely benign
Select item 2268717	NM_012230.5(POMZP3):c.540G>C (p.Gln180His)	LINC03009, POMZP3 (Q180H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216754	NM_012230.5(POMZP3):c.537C>A (p.Ser179Arg)	LINC03009, POMZP3 (S179R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216753	NM_012230.5(POMZP3):c.516G>T (p.Arg172Ser)	LINC03009, POMZP3 (R172S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556403	NM_012230.5(POMZP3):c.467T>A (p.Ile156Asn)	LINC03009, POMZP3 (I156N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216752	NM_012230.5(POMZP3):c.416C>G (p.Ser139Cys)	LINC03009, POMZP3 (S139C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308906	NM_012230.5(POMZP3):c.349T>C (p.Tyr117His)	LINC03009, POMZP3 (Y117H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216751	NM_012230.5(POMZP3):c.332A>T (p.Asp111Val)	LINC03009, POMZP3 (D111V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216750	NM_012230.5(POMZP3):c.245T>C (p.Leu82Pro)	LINC03009, POMZP3 (L82P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216749	NM_012230.5(POMZP3):c.203T>G (p.Leu68Arg)	LINC03009, POMZP3 (L68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557566	NM_012230.5(POMZP3):c.158A>G (p.Glu53Gly)	LINC03009, POMZP3 (E53G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308907	NM_012230.5(POMZP3):c.122C>T (p.Pro41Leu)	LINC03009, POMZP3 (P41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342826	NM_012230.5(POMZP3):c.22C>G (p.Leu8Val)	LINC03009, POMZP3 (L8V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 979622	GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1	TBL2, TMEM120A +50 more	Copy number loss	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563383	GRCh37/hg19 7q11.23(chr7:75384846-76279036)x3	STYXL1, CCL24 +12 more	Copy number gain	not provided	GUncertain significance
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 45