Related gene-specific medical variations for Gene (Select 632) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3215801	NM_001199661.1(PMF1-BGLAP):c.595C>G (p.Pro199Ala)	BGLAP, PMF1-BGLAP (P199A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3133793	NM_199173.6(BGLAP):c.79G>A (p.Gly27Ser)	BGLAP, PMF1-BGLAP (R128Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133792	NM_199173.6(BGLAP):c.68C>T (p.Ala23Val)	BGLAP, PMF1-BGLAP (A23V +2 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3133791	NM_199173.6(BGLAP):c.178C>T (p.Pro60Ser)	BGLAP, PMF1-BGLAP (P60S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2639450	NM_199173.6(BGLAP):c.51C>T (p.Ile17=)	BGLAP, PMF1-BGLAP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2620346	NM_199173.6(BGLAP):c.261C>G (p.Ile87Met)	BGLAP, PMF1-BGLAP (I87M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2374800	NM_199173.6(BGLAP):c.292G>A (p.Gly98Ser)	BGLAP, PMF1-BGLAP (G98S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2312765	NM_199173.6(BGLAP):c.89C>A (p.Ser30Tyr)	BGLAP, PMF1-BGLAP (S30Y +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2306547	NM_199173.6(BGLAP):c.262G>A (p.Gly88Ser)	BGLAP, PMF1-BGLAP (G88S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2238715	NM_001199661.1(PMF1-BGLAP):c.604A>G (p.Met202Val)	BGLAP, PMF1-BGLAP (M202V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2205587	NM_199173.6(BGLAP):c.280C>T (p.Arg94Trp)	BGLAP, PMF1-BGLAP (R94W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 780264	NM_199173.6(BGLAP):c.281G>A (p.Arg94Gln)	BGLAP, PMF1-BGLAP (R94Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign