"Fulgent Genetics, Fulgent Genetics"[submitter] AND "POLA1"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1170758	NM_001330360.2(POLA1):c.1687-15C>T	POLA1	Single nucleotide variant (intron variant)	X-linked reticulate pigmentary disorder +2 more	GBenign/Likely benign
Select item 1168543	NM_001330360.2(POLA1):c.2267A>G (p.Lys756Arg)	POLA1 (K731R +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked reticulate pigmentary disorder +2 more	GBenign/Likely benign
Select item 1055272	NM_001330360.2(POLA1):c.3955A>G (p.Ile1319Val)	POLA1 (I1294V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 719273	NM_001330360.2(POLA1):c.4356C>T (p.Tyr1452=)	POLA1	Single nucleotide variant (synonymous variant)	X-linked reticulate pigmentary disorder +2 more	GBenign/Likely benign
Select item 1615797	NM_001330360.2(POLA1):c.4383C>T (p.Phe1461=)	POLA1	Single nucleotide variant (synonymous variant +1 more)	POLA1-related disorder +3 more	GLikely benign

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