LOC130065472[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +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	SPEF1, SPTLC3 +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	LOC105372493, LOC105372524 +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 146116	GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1	CFAP61, CFAP61-AS1 +117 more	Copy number loss	See cases	GPathogenic
Select item 59976	GRCh38/hg38 20p11.23(chr20:18430311-18542627)x1	DZANK1, LOC126862987 +7 more	Copy number loss	See cases	GUncertain significance
Select item 337778	NM_006363.5(SEC23B):c.-394A>C	LOC130065472, SEC23B	Single nucleotide variant (5 prime UTR variant)	Congenital dyserythropoietic anemia	GUncertain significance
Select item 337779	NM_006363.5(SEC23B):c.-301G>A	LOC130065472, SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia	GUncertain significance
Select item 337780	NM_006363.5(SEC23B):c.-283C>T	LOC130065472, SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia	GUncertain significance
Select item 337781	NM_006363.5(SEC23B):c.-232C>G	LOC130065472, SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia +1 more	GBenign
Select item 337782	NM_006363.5(SEC23B):c.-186G>T	LOC130065472, SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia	GUncertain significance