SPRR2F[gene] - ClinVar

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Items: 20

	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 147363	GRCh38/hg38 1q21.3(chr1:152951169-153495655)x3	LELP1, LOC101928009 +33 more	Copy number gain	See cases	GUncertain significance
Select item 2342079	NM_001014450.3(SPRR2F):c.193C>T (p.Pro65Ser)	SPRR2F (P65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496157	NM_001014450.3(SPRR2F):c.188G>A (p.Cys63Tyr)	SPRR2F (C63Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169405	NM_001014450.3(SPRR2F):c.155A>T (p.Gln52Leu)	SPRR2F (Q52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169404	NM_001014450.3(SPRR2F):c.130T>C (p.Ser44Pro)	SPRR2F (S44P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2389219	NM_001014450.3(SPRR2F):c.115T>C (p.Ser39Pro)	SPRR2F (S39P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2685677	GRCh37/hg19 1q21.3(chr1:152976928-153106311)x1	SPRR1B, SPRR2A +4 more	Copy number loss	not provided	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1809281	GRCh37/hg19 1q21.3(chr1:152648864-153286218)x3	C1orf68, IVL +27 more	Copy number gain	not provided	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	LCE2C, S100A2 +228 more	Duplication	Kostmann syndrome +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ANKRD45, BRINP3 +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979294	GRCh37/hg19 1q21.3(chr1:153007105-153463223)x3	SPRR2E, S100A7 +14 more	Copy number gain	not provided	GUncertain significance
Select item 814129	GRCh37/hg19 1q21.3(chr1:153061323-153904594)x3	SPRR2F, SPRR2G +29 more	Copy number gain	not provided	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	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
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic

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Items: 20