"DNAAF4-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2637240	NM_130810.4(DNAAF4):c.1221G>C (p.Glu407Asp)	DNAAF4, DNAAF4-CCPG1 (E407D +1 more)	Single nucleotide variant (missense variant +1 more)	DNAAF4-related condition	GUncertain significance
Select item 410960	NM_130810.4(DNAAF4):c.881A>T (p.Lys294Met)	DNAAF4, DNAAF4-CCPG1 (K294M)	Single nucleotide variant (non-coding transcript variant +1 more)	DNAAF4-related condition +1 more	GConflicting classifications of pathogenicity
Select item 410959	NM_130810.4(DNAAF4):c.862A>G (p.Lys288Glu)	DNAAF4, DNAAF4-CCPG1 (K288E)	Single nucleotide variant (non-coding transcript variant +1 more)	DNAAF4-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3046881	NM_130810.4(DNAAF4):c.783+5A>G	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (intron variant)	DNAAF4-related condition	GLikely benign
Select item 496919	NM_001033560.1(DNAAF4):c.523dup (p.Ile175Asnfs)	DNAAF4, DNAAF4-CCPG1 (I175fs)	Duplication (non-coding transcript variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1072571	NM_130810.4(DNAAF4):c.10C>T (p.Gln4Ter)	DNAAF4, DNAAF4-CCPG1 (Q4*)	Single nucleotide variant (nonsense +1 more)	DNAAF4-related condition +1 more	GPathogenic/Likely pathogenic

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