"Ambry Genetics"[submitter] AND "PEMT"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3211399	NM_148172.3(PEMT):c.608C>T (p.Thr203Met)	PEMT (T181M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211398	NM_148172.3(PEMT):c.526G>A (p.Asp176Asn)	PEMT (D176N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296387	NM_148172.3(PEMT):c.478G>A (p.Gly160Arg)	PEMT (G123R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456898	NM_148172.3(PEMT):c.412G>A (p.Val138Ile)	PEMT (V138I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246219	NM_148172.3(PEMT):c.311G>A (p.Arg104His)	PEMT (R82H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305772	NM_148172.3(PEMT):c.281G>A (p.Ser94Asn)	PEMT (S57N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211395	NM_148172.3(PEMT):c.212G>A (p.Arg71Gln)	PEMT (R49Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305771	NM_148172.3(PEMT):c.196T>G (p.Trp66Gly)	PEMT (W44G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211397	NM_148172.3(PEMT):c.148C>T (p.Pro50Ser)	PEMT (P28S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313403	NM_148172.3(PEMT):c.119G>T (p.Arg40Leu)	PEMT (R3L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance