"Genetic Services Laboratory, University of Chicago"[submitter] AND "M - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 435877	NM_024101.7(MLPH):c.880+10del	MLPH	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 435878	NM_024101.7(MLPH):c.1416G>A (p.Thr472=)	MLPH	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 1336272	NM_024101.7(MLPH):c.1485C>G (p.Ala495=)	MLPH	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 775835	NM_024101.7(MLPH):c.1508C>T (p.Ser503Leu)	MLPH (S360L +3 more)	Single nucleotide variant (missense variant +1 more)	MLPH-related condition +2 more	GBenign
Select item 435879	NM_024101.7(MLPH):c.1538C>T (p.Pro513Leu)	MLPH (P513L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1336244	NM_024101.7(MLPH):c.1539G>T (p.Pro513=)	MLPH	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 435880	NM_024101.7(MLPH):c.1558G>T (p.Ala520Ser)	MLPH (A520S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1336243	NM_024101.7(MLPH):c.1625C>T (p.Ala542Val)	MLPH (A399V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 716627	NM_024101.7(MLPH):c.1710G>A (p.Val570=)	MLPH	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1337080	NM_024101.7(MLPH):c.1745C>T (p.Ala582Val)	MLPH (A439V +3 more)	Single nucleotide variant (missense variant +1 more)	MLPH-related condition +3 more	GConflicting classifications of pathogenicity