"PreventionGenetics, part of Exact Sciences"[submitter] AND "POF1B"[ge - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3047322	NM_024921.4(POF1B):c.1683A>G (p.Leu561=)	POF1B	Single nucleotide variant (synonymous variant)	POF1B-related disorder	GLikely benign
Select item 368782	NM_024921.4(POF1B):c.1644T>C (p.Thr548=)	POF1B	Single nucleotide variant (synonymous variant)	POF1B-related disorder +1 more	GLikely benign
Select item 713840	NM_024921.4(POF1B):c.1383G>A (p.Thr461=)	POF1B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 368787	NM_024921.4(POF1B):c.1045A>T (p.Met349Leu)	POF1B (M349L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1300002	NM_024921.4(POF1B):c.885G>A (p.Ser295=)	POF1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3053375	NM_024921.4(POF1B):c.450T>A (p.Ser150=)	POF1B	Single nucleotide variant (synonymous variant)	POF1B-related disorder	GLikely benign
Select item 368791	NM_024921.4(POF1B):c.113A>C (p.Gln38Pro)	POF1B (Q38P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3052872	NM_024921.4(POF1B):c.84G>A (p.Gln28=)	POF1B	Single nucleotide variant (synonymous variant)	POF1B-related disorder	GLikely benign
Select item 632054	NM_024921.4(POF1B):c.76C>T (p.Gln26Ter)	POF1B (Q26*)	Single nucleotide variant (nonsense)	Premature ovarian failure 2B +1 more	GUncertain significance