ClinVar for MedGen (Select 82885) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 599379	NM_001330701.2(AGTPBP1):c.2186+2T>G	AGTPBP1	Single nucleotide variant (splice donor variant)	Motor polyneuropathy +2 more	GLikely pathogenic
Select item 523532	NM_022489.4(INF2):c.3247A>G (p.Ser1083Gly)	INF2 (S1083G)	Single nucleotide variant (missense variant)	Oligohydramnios +7 more	GUncertain significance
Select item 374064	NM_001145809.2(MYH14):c.1945+6G>A	MYH14	Single nucleotide variant (intron variant)	EMG abnormality +7 more	GUncertain significance

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