Related gene-specific medical variations for Gene (Select 11077) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1224547	NM_007031.2(HSF2BP):c.382T>C (p.Cys128Arg)	HSF2BP (C128R)	Single nucleotide variant (missense variant)	Premature ovarian failure 19	GLikely pathogenic
Select item 1224546	NM_007031.2(HSF2BP):c.557T>C (p.Leu186Pro)	HSF2BP (L186P)	Single nucleotide variant (missense variant)	Premature ovarian failure 19	GLikely pathogenic
Select item 394758	GRCh37/hg19 21q22.3(chr21:44969301-45053804)x1	HSF2BP	Copy number loss	See cases	GLikely benign

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