"PreventionGenetics, part of Exact Sciences"[submitter] AND "JPH1"[gen - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3033657	NM_020647.4(JPH1):c.1520C>T (p.Thr507Met)	JPH1 (T507M)	Single nucleotide variant (missense variant)	JPH1-related disorder	GBenign
Select item 3034737	NM_020647.4(JPH1):c.600C>T (p.Asp200=)	JPH1	Single nucleotide variant (synonymous variant)	JPH1-related disorder	GLikely benign
Select item 3050105	NM_020647.4(JPH1):c.222G>A (p.Val74=)	JPH1	Single nucleotide variant (synonymous variant)	JPH1-related disorder	GLikely benign

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