Related gene-specific medical variations for Gene (Select 5422) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360085	NM_001330360.2(POLA1):c.3101A>G (p.Glu1034Gly)	POLA1 (E1009G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3246807	NC_000023.10:g.(?_24712079)_(24948686_?)dup	POLA1	Duplication	not provided	GUncertain significance
Select item 3246796	NC_000023.10:g.(?_24712079)_(24750591_?)dup	POLA1	Duplication	not provided	GUncertain significance
Select item 2441952	NM_001330360.2(POLA1):c.3806G>T (p.Gly1269Val)	POLA1 (G1244V +2 more)	Single nucleotide variant (missense variant +1 more)	X-linked reticulate pigmentary disorder	GUncertain significance
Select item 2435143	NM_001330360.2(POLA1):c.2756G>T (p.Arg919Ile)	POLA1 (R894I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1319740	NM_001330360.2(POLA1):c.1392+11C>G	POLA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 687482	GRCh37/hg19 Xp22.11-21.3(chrX:24873331-24989476)x2	POLA1	Copy number gain	not provided	GUncertain significance
Select item 624393	NM_001330360.2(POLA1):c.323A>G (p.Asp108Gly)	POLA1 (D102G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 523007	NM_001330360.2(POLA1):c.412A>G (p.Asn138Asp)	POLA1 (N132D +1 more)	Single nucleotide variant (missense variant)	X-linked reticulate pigmentary disorder	GUncertain significance

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