21444[HGNC] - ClinVar

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Items: 58

	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 147350	GRCh38/hg38 7q11.23(chr7:75568161-76584760)x1	CCL24, CCL26 +63 more	Copy number loss	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 157059	CM000669.1:g.76134203_76144560dup	DTX2, UPK3B	Duplication	Large for gestational age	Gnot provided
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 3331160	NM_001347684.2(UPK3B):c.85+13C>G	UPK3B	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2284979	NM_001347684.2(UPK3B):c.85+13C>A	UPK3B	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3331158	NM_001347684.2(UPK3B):c.85+18A>C	UPK3B	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2331108	NM_001347684.2(UPK3B):c.85+24G>T	UPK3B	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2383756	NM_001347684.2(UPK3B):c.85+75T>C	UPK3B	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2295480	NM_001347684.2(UPK3B):c.86-82G>A	UPK3B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2588979	NM_001347684.2(UPK3B):c.86-15C>A	UPK3B	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2384169	NM_001347684.2(UPK3B):c.101C>T (p.Thr34Ile)	UPK3B (T34I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527322	NM_001347684.2(UPK3B):c.113C>T (p.Thr38Ile)	UPK3B (T38I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186813	NM_001347684.2(UPK3B):c.217G>A (p.Val73Met)	UPK3B (V73M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239381	NM_001347684.2(UPK3B):c.242G>A (p.Arg81Lys)	UPK3B (R81K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186814	NM_001347684.2(UPK3B):c.313A>G (p.Met105Val)	UPK3B (M105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282767	NM_001347684.2(UPK3B):c.323C>T (p.Pro108Leu)	UPK3B (P108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186815	NM_001347684.2(UPK3B):c.376G>A (p.Ala126Thr)	UPK3B (A126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470640	NM_001347684.2(UPK3B):c.382G>A (p.Val128Met)	UPK3B (V128M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323067	NM_001347684.2(UPK3B):c.434C>T (p.Ala145Val)	UPK3B (A145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362143	NM_001347684.2(UPK3B):c.458A>G (p.Tyr153Cys)	UPK3B (Y153C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354429	NM_001347684.2(UPK3B):c.552C>T (p.Pro184=)	UPK3B	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3186816	NM_001347684.2(UPK3B):c.566C>T (p.Thr189Ile)	UPK3B (T189I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186818	NM_001347684.2(UPK3B):c.572C>T (p.Pro191Leu)	UPK3B (P191L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186819	NM_001347684.2(UPK3B):c.598G>A (p.Val200Ile)	UPK3B (V200I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186820	NM_001347684.2(UPK3B):c.627C>T (p.Ala209=)	UPK3B	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 2212086	NM_001347684.2(UPK3B):c.660T>C (p.Ser220=)	UPK3B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3186821	NM_001347684.2(UPK3B):c.667C>T (p.Arg223Cys)	UPK3B (R223C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186822	NM_001347684.2(UPK3B):c.669C>T (p.Arg223=)	UPK3B	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 157060	NC_000007.14:g.76514388_77008124dup	POMZP3, LOC108228209 +7 more	Duplication	Normal pregnancy	Gnot provided
Select item 3331159	NM_001347684.2(UPK3B):c.689C>T (p.Pro230Leu)	UPK3B (P230L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186823	NM_001347684.2(UPK3B):c.701C>T (p.Pro234Leu)	UPK3B (P234L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186824	NM_001347684.2(UPK3B):c.702G>A (p.Pro234=)	UPK3B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2368182	NM_001347684.2(UPK3B):c.712C>T (p.Arg238Trp)	UPK3B (R238W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331157	NM_001347684.2(UPK3B):c.713G>A (p.Arg238Gln)	UPK3B (R238Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2219001	NM_001347684.2(UPK3B):c.720C>T (p.Gly240=)	UPK3B	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 2406555	NM_001347684.2(UPK3B):c.724T>A (p.Phe242Ile)	UPK3B (F242I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3186826	NM_001347684.2(UPK3B):c.737G>A (p.Arg246His)	UPK3B (R246H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2617425	NM_001347684.2(UPK3B):c.774C>G (p.Ala258=)	UPK3B	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 2510610	NM_001347684.2(UPK3B):c.815C>T (p.Pro272Leu)	UPK3B (P272L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186827	NM_001347684.2(UPK3B):c.*36C>T	UPK3B	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3186828	NM_001347684.2(UPK3B):c.*37G>A	UPK3B	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance

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Items: 58