LOC130065436[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 149213	GRCh38/hg38 20p12.1(chr20:14648477-14857630)x1	LOC130065435, LOC130065436 +1 more	Copy number loss	See cases	GUncertain significance
Select item 148688	GRCh38/hg38 20p12.1(chr20:14648477-14947981)x1	LOC130065435, LOC130065436 +3 more	Copy number loss	See cases	GUncertain significance
Select item 545231	NC_000020.11:g.(?_14656734)_(14876708_?)del	LOC130065435, LOC130065436 +1 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 153726	GRCh38/hg38 20p12.1(chr20:14667575-15243121)x1	LOC130065435, LOC130065436 +8 more	Copy number loss	See cases	GUncertain significance
Select item 2499637	GRCh38/hg38 20p12.1(chr20:14696399-15275484)	LOC130065435, LOC130065436 +8 more	Copy number loss	See cases	GBenign
Select item 152495	GRCh38/hg38 20p12.1(chr20:14719394-14857571)x1	LOC130065435, LOC130065436 +1 more	Copy number loss	See cases	GBenign
Select item 149778	GRCh38/hg38 20p12.1(chr20:14719399-15153585)x1	LOC130065435, LOC130065436 +6 more	Copy number loss	See cases	GLikely benign
Select item 152491	GRCh38/hg38 20p12.1(chr20:14753765-15174058)x1	LOC130065435, LOC130065436 +8 more	Copy number loss	See cases	GBenign
Select item 151390	GRCh38/hg38 20p12.1(chr20:14753765-14895065)x1	LOC130065435, LOC130065436 +2 more	Copy number loss	See cases	GBenign
Select item 145851	GRCh38/hg38 20p12.1(chr20:14753765-15060833)x1	LOC130065435, LOC130065436 +4 more	Copy number loss	See cases	GLikely benign
Select item 145101	GRCh38/hg38 20p12.1(chr20:14753765-14857571)x1	LOC130065435, LOC130065436 +1 more	Copy number loss	See cases	GBenign
Select item 145098	GRCh38/hg38 20p12.1(chr20:14753765-15117788)x1	LOC130065435, LOC130065436 +6 more	Copy number loss	See cases	GBenign
Select item 236390	Single allele	LOC130065437, MACROD2 +3 more	Deletion	Autism spectrum disorder	GUncertain significance
Select item 152500	GRCh38/hg38 20p12.1(chr20:14775747-15091966)x1	LOC130065435, LOC130065436 +4 more	Copy number loss	See cases	GLikely benign
Select item 149731	GRCh38/hg38 20p12.1(chr20:14775756-14983903)x1	LOC130065435, LOC130065436 +3 more	Copy number loss	See cases	GLikely benign
Select item 149473	GRCh38/hg38 20p12.1(chr20:14775756-15060884)x1	LOC130065435, LOC130065436 +4 more	Copy number loss	See cases	GLikely benign
Select item 145103	GRCh38/hg38 20p12.1(chr20:14796234-14947922)x1	LOC130065435, LOC130065436 +3 more	Copy number loss	See cases	GBenign
Select item 221769	GRCh38/hg38 20p12.1(chr20:14801038-14842826)x1	LOC130065435, LOC130065436 +1 more	Copy number loss	Premature ovarian failure	GBenign
Select item 157461	NM_080676.5(MACROD2):c.418+128756_418+265581del	LOC130065435, LOC130065436 +3 more	Deletion	Normal pregnancy	Gnot provided
Select item 236391	Single allele	LOC130065435, LOC130065436 +3 more	Deletion	Autism spectrum disorder	GUncertain significance

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Items: 29