"LIPN-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2702967	NM_001102469.2(LIPN):c.358C>A (p.Arg120=)	LIPN	Single nucleotide variant (synonymous variant)	LIPN-related disorder +1 more	GLikely benign
Select item 1557859	NM_001102469.2(LIPN):c.395C>T (p.Ser132Leu)	LIPN (S132L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2076370	NM_001102469.2(LIPN):c.873C>T (p.Asn291=)	LIPN	Single nucleotide variant (synonymous variant)	LIPN-related disorder +1 more	GBenign/Likely benign
Select item 3040042	NM_001102469.2(LIPN):c.964-4A>G	LIPN	Single nucleotide variant (intron variant)	LIPN-related disorder	GLikely benign

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