"GeneDx"[submitter] AND "POPDC1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1218681	NM_001199563.2(POPDC1):c.*244T>A	POPDC1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1196394	NM_001199563.2(POPDC1):c.842T>C (p.Leu281Pro)	POPDC1 (L281P)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 776144	NM_001199563.2(POPDC1):c.708A>C (p.Thr236=)	POPDC1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2X +1 more	GBenign/Likely benign
Select item 1193384	NM_001199563.2(POPDC1):c.648+115A>G	POPDC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 222033	NM_001199563.2(POPDC1):c.602C>T (p.Ser201Phe)	POPDC1 (S201F)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 778247	NM_001199563.2(POPDC1):c.385C>T (p.Arg129Trp)	POPDC1 (R129W)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 778248	NM_001199563.2(POPDC1):c.381G>A (p.Met127Ile)	POPDC1 (M127I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 720950	NM_001199563.2(POPDC1):c.43A>G (p.Ile15Val)	POPDC1 (I15V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 791399	NM_001199563.2(POPDC1):c.9T>C (p.Tyr3=)	POPDC1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign