LOC130065408[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 148980	GRCh38/hg38 20p12.3(chr20:6186076-8804328)x3	BMP2, CASC20 +34 more	Copy number gain	See cases	GUncertain significance
Select item 57236	GRCh38/hg38 20p12.3(chr20:6336607-8577546)x1	BMP2, CASC20 +30 more	Copy number loss	See cases	GPathogenic
Select item 145966	GRCh38/hg38 20p12.3-12.1(chr20:6617695-13392559)x1	ANKEF1, BMP2 +109 more	Copy number loss	See cases	GPathogenic
Select item 56985	GRCh38/hg38 20p12.3(chr20:7123110-8577546)x3	HAO1, LINC01428 +19 more	Copy number gain	See cases	GPathogenic
Select item 154280	GRCh38/hg38 20p12.3(chr20:7125410-8606171)x3	HAO1, LINC01428 +20 more	Copy number gain	See cases	GUncertain significance
Select item 58946	GRCh38/hg38 20p12.3-12.2(chr20:7566644-11028694)x1	ANKEF1, HAO1 +71 more	Copy number loss	See cases	GPathogenic
Select item 897292	NM_015192.4(PLCB1):c.-296A>G	LOC130065408, PLCB1	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 897293	NM_015192.4(PLCB1):c.-222C>G	LOC130065408, PLCB1	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 897294	NM_015192.4(PLCB1):c.-170C>A	LOC130065408, PLCB1	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 12 +1 more	GBenign/Likely benign
Select item 897295	NM_015192.4(PLCB1):c.-168G>A	LOC130065408, PLCB1	Single nucleotide variant (5 prime UTR variant)	Developmental and epileptic encephalopathy, 12	GUncertain significance

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Items: 20