2367[HGNC] - ClinVar

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Items: 29

	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 1692995	NM_000567.3(CRP):c.*1082G>A	CRP	Single nucleotide variant (3 prime UTR variant)	Inflammation	GUncertain significance
Select item 2273412	NM_000567.3(CRP):c.646G>A (p.Val216Met)	CRP (V216M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752112	NM_000567.3(CRP):c.636G>T (p.Val212=)	CRP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2232682	NM_000567.3(CRP):c.635T>C (p.Val212Ala)	CRP (V79A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2403499	NM_000567.3(CRP):c.619G>C (p.Ala207Pro)	CRP (A74P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529865	NM_000567.3(CRP):c.576C>G (p.Ile192Met)	CRP (I70M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043076	NM_000567.3(CRP):c.521T>C (p.Ile174Thr)	CRP (I174T)	Single nucleotide variant (missense variant +1 more)	CRP-related disorder	GUncertain significance
Select item 2259287	NM_000567.3(CRP):c.496G>A (p.Gly166Arg)	CRP (G166R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 726464	NM_000567.3(CRP):c.360C>T (p.Ser120=)	CRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3061216	NM_000567.3(CRP):c.357G>C (p.Glu119Asp)	CRP (E119D)	Single nucleotide variant (missense variant +1 more)	CRP-related disorder	GUncertain significance
Select item 2639485	NM_000567.3(CRP):c.339C>T (p.His113=)	CRP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3077627	NM_000567.3(CRP):c.302T>C (p.Leu101Ser)	CRP (L101S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077626	NM_000567.3(CRP):c.212C>T (p.Ser71Leu)	CRP (S71L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300884	NM_000567.3(CRP):c.212C>G (p.Ser71Trp)	CRP (S71W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1049406	NM_000567.3(CRP):c.176C>T (p.Thr59Met)	CRP (T59M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3077625	NM_000567.3(CRP):c.149C>G (p.Ala50Gly)	CRP (A50G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3356915	NM_000567.3(CRP):c.134C>T (p.Thr45Met)	CRP (T45M)	Single nucleotide variant (missense variant)	CRP-related disorder	GLikely benign
Select item 791614	NM_000567.3(CRP):c.129G>A (p.Pro43=)	CRP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709552	NM_000567.3(CRP):c.105T>G (p.Thr35=)	CRP	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1809049	GRCh37/hg19 1q23.2(chr1:159600385-159715180)x1	CRP	Copy number loss	not provided	GUncertain significance
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 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	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 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: 29