"PreventionGenetics, part of Exact Sciences"[submitter] AND "PUF60"[ge - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 984580	NM_078480.3(PUF60):c.1673_1674del (p.Ser558fs)	PUF60 (S498fs +9 more)	Microsatellite (frameshift variant)	PUF60-related disorder	GUncertain significance
Select item 2637314	NM_078480.3(PUF60):c.1570G>C (p.Glu524Gln)	PUF60 (E464Q +9 more)	Single nucleotide variant (missense variant)	PUF60-related disorder	GUncertain significance
Select item 3036484	NM_078480.3(PUF60):c.1554G>A (p.Glu518=)	PUF60	Single nucleotide variant (synonymous variant)	PUF60-related disorder	GLikely benign
Select item 3030123	NM_078480.3(PUF60):c.1410G>A (p.Val470=)	PUF60	Single nucleotide variant (synonymous variant)	PUF60-related disorder	GLikely benign
Select item 3057106	NM_078480.3(PUF60):c.1399C>T (p.Arg467Cys)	PUF60 (R407C +9 more)	Single nucleotide variant (missense variant)	PUF60-related disorder	GUncertain significance
Select item 3046672	NM_078480.3(PUF60):c.1381-3C>T	PUF60	Single nucleotide variant (intron variant)	PUF60-related disorder	GLikely benign
Select item 3033064	NM_078480.3(PUF60):c.1172C>T (p.Pro391Leu)	PUF60 (P331L +9 more)	Single nucleotide variant (missense variant)	PUF60-related disorder	GUncertain significance
Select item 2636369	NM_078480.3(PUF60):c.1051C>G (p.Pro351Ala)	PUF60 (P291A +9 more)	Single nucleotide variant (missense variant)	PUF60-related disorder	GUncertain significance
Select item 3058777	NM_078480.3(PUF60):c.818-8G>A	PUF60	Single nucleotide variant (intron variant)	PUF60-related disorder	GLikely benign
Select item 931222	NM_078480.3(PUF60):c.297+9C>T	PUF60	Single nucleotide variant (intron variant)	PUF60-related disorder +1 more	GBenign/Likely benign
Select item 3057914	NM_078480.3(PUF60):c.24+1874C>T	PUF60	Single nucleotide variant (synonymous variant +1 more)	PUF60-related disorder	GLikely benign
Select item 3031693	NM_078480.3(PUF60):c.24+1873C>A	PUF60 (A38D)	Single nucleotide variant (missense variant +1 more)	PUF60-related disorder	GLikely benign
Select item 2435305	NM_078480.3(PUF60):c.11C>G (p.Ala4Gly)	LOC126860549, PUF60 (A4G)	Single nucleotide variant (missense variant)	8q24.3 microdeletion syndrome +2 more	GConflicting classifications of pathogenicity