"GeneDx"[submitter] AND "P4HTM"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2662675	NM_177939.3(P4HTM):c.201C>A (p.Phe67Leu)	LOC129936725, P4HTM (F67L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136031	NM_177939.3(P4HTM):c.472C>G (p.Leu158Val)	P4HTM (L158V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372936	NM_177939.3(P4HTM):c.644G>A (p.Arg215His)	P4HTM (R215H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254369	NM_177939.3(P4HTM):c.659G>A (p.Trp220Ter)	P4HTM (W220*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2662679	NM_177939.3(P4HTM):c.817C>T (p.Arg273Trp)	P4HTM (R273W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135986	NM_177939.3(P4HTM):c.1073+129G>C	P4HTM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1303426	NM_177939.3(P4HTM):c.1228C>A (p.Arg410Ser)	P4HTM (R410S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
Select item 3360771	NM_177939.3(P4HTM):c.1340C>T (p.Thr447Met)	P4HTM (T447M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar