"PreventionGenetics, part of Exact Sciences"[submitter] AND "PARP1"[ge - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058577	NM_001618.4(PARP1):c.2916G>A (p.Gly972=)	PARP1	Single nucleotide variant (synonymous variant)	PARP1-related disorder	GLikely benign
Select item 3041509	NM_001618.4(PARP1):c.2819A>G (p.Lys940Arg)	PARP1 (K940R)	Single nucleotide variant (missense variant)	PARP1-related disorder	GBenign
Select item 3040063	NM_001618.4(PARP1):c.2593A>C (p.Arg865=)	PARP1	Single nucleotide variant (synonymous variant)	PARP1-related disorder	GLikely benign
Select item 711740	NM_001618.4(PARP1):c.1914C>T (p.Phe638=)	PARP1	Single nucleotide variant (synonymous variant)	PARP1-related disorder +1 more	GBenign
Select item 3049450	NM_001618.4(PARP1):c.1629G>A (p.Ala543=)	LOC126806035, PARP1	Single nucleotide variant (synonymous variant)	PARP1-related disorder	GBenign
Select item 3057382	NM_001618.4(PARP1):c.1371C>T (p.Asp457=)	LOC126806035, PARP1	Single nucleotide variant (synonymous variant)	PARP1-related disorder	GLikely benign
Select item 780306	NM_001618.4(PARP1):c.1245C>T (p.Leu415=)	PARP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3039691	NM_001618.4(PARP1):c.1148C>A (p.Ser383Tyr)	PARP1 (S383Y)	Single nucleotide variant (missense variant)	PARP1-related disorder	GLikely benign
Select item 779066	NM_001618.4(PARP1):c.1129C>T (p.Pro377Ser)	PARP1 (P377S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 737642	NM_001618.4(PARP1):c.1000G>A (p.Val334Ile)	PARP1 (V334I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3034622	NM_001618.4(PARP1):c.659C>T (p.Ala220Val)	PARP1 (A220V)	Single nucleotide variant (missense variant)	PARP1-related disorder	GLikely benign
Select item 3045973	NM_001618.4(PARP1):c.656T>C (p.Val219Ala)	PARP1 (V219A)	Single nucleotide variant (missense variant)	PARP1-related disorder	GLikely benign
Select item 775674	NM_001618.4(PARP1):c.562G>A (p.Ala188Thr)	PARP1 (A188T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 725933	NM_001618.4(PARP1):c.339T>C (p.Phe113=)	PARP1	Single nucleotide variant (synonymous variant)	PARP1-related disorder +1 more	GBenign/Likely benign
Select item 3059377	NM_001618.4(PARP1):c.287-6C>A	PARP1	Single nucleotide variant (intron variant)	PARP1-related disorder	GBenign
Select item 3035978	NM_001618.4(PARP1):c.14C>G (p.Ser5Trp)	PARP1 (S5W)	Single nucleotide variant (missense variant)	PARP1-related disorder	GLikely benign