Related gene-specific medical variations for Gene (Select 143) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2643692	NM_006437.4(PARP4):c.113C>T (p.Ser38Phe)	LOC124849297, PARP4 (S38F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2622133	NM_006437.4(PARP4):c.95A>C (p.Glu32Ala)	LOC124849297, PARP4 (E32A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290871	NM_006437.4(PARP4):c.79C>G (p.Gln27Glu)	LOC124849297, PARP4 (Q27E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1331096	NM_006437.4(PARP4):c.3713G>A (p.Arg1238Gln)	PARP4 (R1238Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330418	NM_006437.4(PARP4):c.3777A>T (p.Glu1259Asp)	PARP4 (E1259D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 547125	GRCh37/hg19 13q12.12(chr13:24910684-25041285)x3	PARP4	Copy number gain	not provided	GLikely benign
Select item 221858	GRCh37/hg19 13q12.12(chr13:24936847-25010174)x3	PARP4	Copy number gain	Premature ovarian failure	GBenign

ClinVar