Related gene-specific medical variations for Gene (Select 164045) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1332988	NM_001017975.6(HFM1):c.3490C>T (p.Gln1164Ter)	HFM1 (Q1164*)	Single nucleotide variant (nonsense +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1332987	NM_001017975.6(HFM1):c.2487_2491del (p.Lys829fs)	HFM1 (K829fs)	Microsatellite (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1332986	NM_001017975.6(HFM1):c.4126del (p.Glu1376fs)	HFM1 (E1376fs)	Deletion (frameshift variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1332985	NM_001017975.6(HFM1):c.2562_2563del (p.Glu856fs)	HFM1 (E856fs)	Deletion (frameshift variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1332896	NM_001017975.6(HFM1):c.1472T>C (p.Leu491Pro)	HFM1 (L491P)	Single nucleotide variant (missense variant +1 more)	Spermatogenic failure 4	GPathogenic
Select item 1332895	NM_001017975.6(HFM1):c.1355G>A (p.Arg452Gln)	HFM1 (R452Q)	Single nucleotide variant (missense variant +1 more)	Spermatogenic failure 4	GPathogenic
Select item 1328943	NM_001017975.6(HFM1):c.3588+1G>A	HFM1	Single nucleotide variant (splice donor variant)	Azoospermia	GPathogenic
Select item 1256009	NM_001017975.6(HFM1):c.1880T>C (p.Val627Ala)	HFM1 (V627A)	Single nucleotide variant (missense variant +1 more)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256008	NM_001017975.6(HFM1):c.1978-2A>C	HFM1	Single nucleotide variant (splice acceptor variant)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 565123	GRCh37/hg19 1p22.2(chr1:91496962-91838471)x1	HFM1	Copy number loss	not provided	GUncertain significance