"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PNMA6E"[ge - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2661679	NM_001367770.1(PNMA6E):c.1698C>T (p.Pro566=)	PNMA6E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661680	NM_001367770.1(PNMA6E):c.1590C>T (p.Ser530=)	PNMA6E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661681	NM_001367770.1(PNMA6E):c.813A>G (p.Ala271=)	PNMA6E	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic

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