12593[HGNC] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 639872	NC_000001.10:g.(?_160786670)_(161332233_?)dup	ADAMTS4, APOA2 +63 more	Duplication	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 57815	GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3	ADAMTS4, APOA2 +58 more	Copy number gain	See cases	GUncertain significance
Select item 12294	NM_007122.5(USF1):c.*187C>T	USF1	Single nucleotide variant (3 prime UTR variant)	Hyperlipidemia, familial combined, susceptibility to	Grisk factor
Select item 2329178	NM_007122.5(USF1):c.925A>G (p.Ser309Gly)	USF1 (S250G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187013	NM_007122.5(USF1):c.836G>T (p.Arg279Leu)	USF1 (R279L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470398	NM_007122.5(USF1):c.816G>C (p.Gln272His)	USF1 (Q213H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293836	NM_007122.5(USF1):c.794T>C (p.Leu265Pro)	USF1 (L265P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612930	NM_007122.5(USF1):c.714+3C>T	USF1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3331260	NM_007122.5(USF1):c.577C>T (p.Arg193Trp)	USF1 (R193W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 12295	NM_007122.5(USF1):c.561-100G>A	USF1	Single nucleotide variant (intron variant)	Hyperlipidemia, familial combined, susceptibility to	Grisk factor
Select item 3187012	NM_007122.5(USF1):c.532A>G (p.Ile178Val)	USF1 (I119V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187011	NM_007122.5(USF1):c.278C>T (p.Ala93Val)	LOC129931745, USF1 (A34V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187010	NM_007122.5(USF1):c.238G>A (p.Ala80Thr)	USF1 (A21T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809367	GRCh37/hg19 1q23.3(chr1:160778879-161190622)x3	ADAMTS4, ARHGAP30 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	ACKR1, ADAMTS4 +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1341040	GRCh37/hg19 1q23.3(chr1:160859558-161409185)x3	ADAMTS4, APOA2 +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 830661	NC_000001.11:g.(?_160816880)_(161362518_?)dup	ADAMTS4, APOA2 +24 more	Duplication	Paragangliomas 3 +1 more	GUncertain significance
Select item 814133	GRCh37/hg19 1q23.3(chr1:160977795-161189147)x3	KLHDC9, PFDN2 +14 more	Copy number gain	not provided	GUncertain significance
Select item 688334	GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3	ADAMTS4, APOA2 +42 more	Copy number gain	not provided	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 685941	GRCh37/hg19 1q23.2-23.3(chr1:159808188-161011163)x3	ATP1A2, ATP1A4 +31 more	Copy number gain	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	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

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Items: 30