Related gene-specific medical variations for Gene (Select 57185) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3200153	NM_020448.5(NIPAL3):c.18C>A (p.Ser6Arg)	LOC126805662, NIPAL3 (S6R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3048167	NM_020448.5(NIPAL3):c.90C>T (p.Tyr30=)	LOC126805662, NIPAL3	Single nucleotide variant (synonymous variant +3 more)	NIPAL3-related disorder	GBenign
Select item 3033822	NM_020448.5(NIPAL3):c.19G>A (p.Ala7Thr)	LOC126805662, NIPAL3 (A7T)	Single nucleotide variant (missense variant +3 more)	NIPAL3-related disorder	GBenign

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