ClinVar for Gene (Select 100130264) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2609724	NM_020689.4(SLC24A3):c.245G>A (p.Arg82Gln)	SLC24A3, SLC24A3-AS1 (R82Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2377156	NM_020689.4(SLC24A3):c.229G>A (p.Glu77Lys)	SLC24A3, SLC24A3-AS1 (E77K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306633	NM_020689.4(SLC24A3):c.233A>C (p.Asp78Ala)	SLC24A3, SLC24A3-AS1 (D78A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218802	NM_020689.4(SLC24A3):c.255G>C (p.Lys85Asn)	SLC24A3, SLC24A3-AS1 (K85N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 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 146116	GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1	CFAP61, CFAP61-AS1 +117 more	Copy number loss	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 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 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