ClinVar for Gene (Select 126861976) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2603893	NM_003861.3(DCAF5):c.1732C>G (p.Arg578Gly)	DCAF5, LOC126861976 (R578G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474625	NM_003861.3(DCAF5):c.1598C>T (p.Ser533Phe)	DCAF5, LOC126861976 (S533F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309748	NM_003861.3(DCAF5):c.1213G>A (p.Ala405Thr)	DCAF5, LOC126861976 (A323T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268949	NM_003861.3(DCAF5):c.1252T>C (p.Phe418Leu)	DCAF5, LOC126861976 (F417L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 57807	GRCh38/hg38 14q24.1(chr14:67876421-69247382)x1	ACTN1, ACTN1-DT +83 more	Copy number loss	See cases	GLikely pathogenic

ClinVar