PYGO2[gene] - ClinVar

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Items: 36

	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 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 2522734	NM_138300.4(PYGO2):c.1168T>C (p.Ser390Pro)	PYGO2 (S390P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231748	NM_138300.4(PYGO2):c.1001G>A (p.Arg334Gln)	PYGO2 (R334Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150226	NM_138300.4(PYGO2):c.1000C>T (p.Arg334Trp)	PYGO2 (R334W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339770	NM_138300.4(PYGO2):c.907C>T (p.Pro303Ser)	PYGO2 (P303S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285174	NM_138300.4(PYGO2):c.828C>G (p.His276Gln)	PYGO2 (H276Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591482	NM_138300.4(PYGO2):c.826C>T (p.His276Tyr)	PYGO2 (H276Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479222	NM_138300.4(PYGO2):c.676C>T (p.Pro226Ser)	PYGO2 (P226S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150231	NM_138300.4(PYGO2):c.658G>T (p.Ala220Ser)	PYGO2 (A220S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150230	NM_138300.4(PYGO2):c.625C>G (p.Pro209Ala)	PYGO2 (P209A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244124	NM_138300.4(PYGO2):c.579G>T (p.Met193Ile)	PYGO2 (M193I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490497	NM_138300.4(PYGO2):c.544A>C (p.Met182Leu)	PYGO2 (M182L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327940	NM_138300.4(PYGO2):c.503A>G (p.Asn168Ser)	PYGO2 (N168S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224767	NM_138300.4(PYGO2):c.410C>G (p.Pro137Arg)	PYGO2 (P137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150229	NM_138300.4(PYGO2):c.409C>T (p.Pro137Ser)	PYGO2 (P137S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150228	NM_138300.4(PYGO2):c.332C>T (p.Ala111Val)	PYGO2 (A111V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400126	NM_138300.4(PYGO2):c.302T>G (p.Phe101Cys)	PYGO2 (F101C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550027	NM_138300.4(PYGO2):c.247G>A (p.Gly83Arg)	PYGO2 (G83R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150227	NM_138300.4(PYGO2):c.203T>C (p.Met68Thr)	PYGO2 (M68T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326431	NM_138300.4(PYGO2):c.92A>T (p.Gln31Leu)	PYGO2 (Q31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208484	NM_138300.4(PYGO2):c.31A>G (p.Lys11Glu)	PYGO2, PYGO2-AS1 (K11E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	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 2685829	GRCh37/hg19 1q21.3-22(chr1:154684075-155017913)x3	CKS1B, DCST1 +9 more	Copy number gain	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 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	MUC1, PMVK +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	DAP3, MINDY1 +228 more	Duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 814131	GRCh37/hg19 1q21.3-22(chr1:154898854-155242457)x3	EFNA4, ENTREP3 +23 more	Copy number gain	not provided	GUncertain significance
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Items: 36