ClinVar for MedGen (Select 1648419) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2580173	NM_031293.3(PMFBP1):c.841C>T (p.Gln281Ter)	PMFBP1 (Q136* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 31	GPathogenic
Select item 2499679	NM_031293.3(PMFBP1):c.1888G>T (p.Glu630Ter)	PMFBP1 (E485* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 31	GLikely pathogenic
Select item 2435090	NM_031293.3(PMFBP1):c.1009G>A (p.Glu337Lys)	PMFBP1 (E192K +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 31	GUncertain significance
Select item 1272687	NM_031293.3(PMFBP1):c.2739A>C (p.Lys913Asn)	PMFBP1 (K768N +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 31 +2 more	GBenign
Select item 807468	NM_031293.3(PMFBP1):c.2278_2281del (p.Lys760fs)	PMFBP1 (K760fs +1 more)	Deletion (frameshift variant)	Spermatogenic failure 31	GPathogenic
Select item 619947	NM_031293.3(PMFBP1):c.327T>A (p.Tyr109Ter)	PMFBP1 (Y109*)	Single nucleotide variant (5 prime UTR variant +1 more)	Spermatogenic failure 31	GPathogenic
Select item 619946	NM_031293.3(PMFBP1):c.2561_2562del (p.Lys854fs)	PMFBP1 (K709fs +1 more)	Deletion (frameshift variant)	Spermatogenic failure 31	GPathogenic
Select item 560419	NM_031293.3(PMFBP1):c.2092del (p.Ala698fs)	PMFBP1 (A698fs +1 more)	Deletion (frameshift variant)	Spermatogenic failure 31	GPathogenic
Select item 560418	NM_031293.3(PMFBP1):c.2725C>T (p.Arg909Ter)	PMFBP1 (R909* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 31	GLikely pathogenic
Select item 560417	NM_031293.3(PMFBP1):c.1462C>T (p.Gln488Ter)	PMFBP1 (Q488* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 31	GPathogenic