"GeneDx"[submitter] AND "PYGB"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 58970	GRCh38/hg38 20p11.21(chr20:25089431-25492048)x3	ABHD12, ENTPD6 +31 more	Copy number gain	See cases	GUncertain significance
Select item 58971	GRCh38/hg38 20p11.21(chr20:25099947-25468308)x3	ABHD12, ENTPD6 +30 more	Copy number gain	See cases	GUncertain significance
Select item 1280514	NM_015600.5(ABHD12):c.*44AACTAA[1]	ABHD12, PYGB	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1228212	NM_015600.5(ABHD12):c.1207C>T (p.Leu403=)	ABHD12, PYGB	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1269367	NM_015600.5(ABHD12):c.1203A>G (p.Ser401=)	ABHD12, PYGB	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1215967	NM_015600.5(ABHD12):c.1158-92del	PYGB, ABHD12	Deletion (intron variant)	not provided	GLikely benign
Select item 1252428	NM_015600.5(ABHD12):c.1158-129G>C	ABHD12, PYGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244763	NM_015600.5(ABHD12):c.1158-177G>A	ABHD12, PYGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221566	NM_015600.5(ABHD12):c.1158-204T>C	ABHD12, PYGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231287	NM_015600.5(ABHD12):c.1158-224G>T	ABHD12, PYGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253759	GRCh37/hg19 20p11.21-11.1(chr20:25039251-26067042)x3	NINL, VSX1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic