ClinVar for MedGen (Select 1782107) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2438632	NM_030799.9(YIPF5):c.524T>A (p.Val175Asp)	YIPF5 (V121D +1 more)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome 2	GUncertain significance
Select item 1064546	NM_030799.9(YIPF5):c.290G>T (p.Gly97Val)	LOC126807536, YIPF5 (G97V +1 more)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome 2	GPathogenic
Select item 1064545	NM_030799.9(YIPF5):c.652T>A (p.Trp218Arg)	YIPF5 (W218R +1 more)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome 2	GPathogenic
Select item 1064544	NM_030799.9(YIPF5):c.293T>G (p.Ile98Ser)	LOC126807536, YIPF5 (I98S +1 more)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome 2	GPathogenic
Select item 1064543	NM_030799.9(YIPF5):c.317_319del (p.Lys106del)	LOC126807536, YIPF5 (K106del +1 more)	Deletion (inframe_deletion)	Microcephaly, epilepsy, and diabetes syndrome 2	GPathogenic
Select item 1064542	NM_030799.9(YIPF5):c.542C>T (p.Ala181Val)	YIPF5 (A181V +1 more)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome 2	GPathogenic

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