"Ambry Genetics"[submitter] AND "PMF1-BGLAP"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2374411	NM_007221.4(PMF1):c.142A>C (p.Lys48Gln)	LOC129931608, PMF1 +1 more (K48Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620381	NM_007221.4(PMF1):c.162-6741G>A	PMF1, PMF1-BGLAP (G62R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304820	NM_007221.4(PMF1):c.162-6726C>T	PMF1, PMF1-BGLAP (R67C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384307	NM_007221.4(PMF1):c.162-6707A>G	PMF1, PMF1-BGLAP (Q73R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253496	NM_007221.4(PMF1):c.162-6680C>T	PMF1, PMF1-BGLAP (A82V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544163	NM_007221.4(PMF1):c.260C>A (p.Ser87Tyr)	PMF1, PMF1-BGLAP (S87Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487545	NM_007221.4(PMF1):c.379G>A (p.Gly127Arg)	PMF1, PMF1-BGLAP (G127R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490408	NM_007221.4(PMF1):c.507G>C (p.Gly169=)	PMF1, PMF1-BGLAP (G148A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2522987	NM_007221.4(PMF1):c.508C>T (p.Arg170Trp)	PMF1, PMF1-BGLAP (R169W +5 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	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 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 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 3215801	NM_199173.6(BGLAP):c.156C>G (p.Tyr52Ter)	BGLAP, PMF1-BGLAP (P199A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2238715	NM_199173.6(BGLAP):c.165A>G (p.Gln55=)	BGLAP, PMF1-BGLAP (M202V +1 more)	Single nucleotide variant (missense 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 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 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 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 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