ClinVar for MedGen (Select 816706) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627515	NM_001017975.6(HFM1):c.2T>C (p.Met1Thr)	HFM1 (M1T)	Single nucleotide variant (missense variant +2 more)	Premature ovarian failure 9	GLikely pathogenic
Select item 2440702	NM_001017975.6(HFM1):c.1159-3_1159-2del	HFM1	Deletion (splice acceptor variant)	Premature ovarian failure 9	GLikely pathogenic
Select item 1214012	NM_001017975.6(HFM1):c.2410G>T (p.Glu804Ter)	HFM1 (E804*)	Single nucleotide variant (non-coding transcript variant +1 more)	Premature ovarian failure 9	GLikely pathogenic
Select item 996213	NM_001017975.6(HFM1):c.1905T>A (p.Tyr635Ter)	HFM1 (Y635*)	Single nucleotide variant (nonsense +1 more)	Premature ovarian failure 9	GPathogenic
Select item 561186	NM_001017975.6(HFM1):c.4061del (p.Pro1354fs)	HFM1 (P1354fs)	Deletion (frameshift variant +1 more)	Premature ovarian failure 9	GUncertain significance
Select item 126431	NM_001017975.6(HFM1):c.3929_3930delinsG (p.Pro1310fs)	HFM1 (P1310fs)	Indel (frameshift variant +1 more)	Premature ovarian failure 9	GPathogenic
Select item 126430	NM_001017975.6(HFM1):c.2206G>A (p.Gly736Ser)	HFM1 (G736S)	Single nucleotide variant (missense variant)	Premature ovarian failure 9	GPathogenic
Select item 126429	NM_001017975.6(HFM1):c.2651T>G (p.Ile884Ser)	HFM1 (I884S)	Single nucleotide variant (missense variant +1 more)	Premature ovarian failure 9	GPathogenic
Select item 126428	NM_001017975.6(HFM1):c.1686G>C (p.Arg562Ser)	HFM1 (R562S)	Single nucleotide variant (missense variant +1 more)	Premature ovarian failure 9	GPathogenic