"PreventionGenetics, part of Exact Sciences"[submitter] AND "JPH3"[gen - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3046536	NM_020655.4(JPH3):c.309C>T (p.Asn103=)	JPH3	Single nucleotide variant (synonymous variant)	JPH3-related disorder	GLikely benign
Select item 3030428	NM_020655.4(JPH3):c.382+635C>T	JPH3	Single nucleotide variant (3 prime UTR variant +1 more)	JPH3-related disorder	GLikely benign
Select item 3035045	NM_020655.4(JPH3):c.426C>T (p.Tyr142=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	JPH3-related disorder	GLikely benign
Select item 3055226	NM_020655.4(JPH3):c.460G>C (p.Ala154Pro)	JPH3 (A154P)	Single nucleotide variant (missense variant +1 more)	JPH3-related disorder	GLikely benign
Select item 3043900	NM_020655.4(JPH3):c.531G>A (p.Leu177=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	JPH3-related disorder	GLikely benign
Select item 3047367	NM_020655.4(JPH3):c.570C>T (p.Ala190=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	JPH3-related disorder	GLikely benign
Select item 779972	NM_020655.4(JPH3):c.612C>T (p.Ser204=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	JPH3-related disorder +1 more	GBenign/Likely benign
Select item 779279	NM_020655.4(JPH3):c.626G>C (p.Ser209Thr)	JPH3 (S209T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3059953	NM_020655.4(JPH3):c.684G>A (p.Ser228=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	JPH3-related disorder	GBenign
Select item 3059867	NM_020655.4(JPH3):c.768G>A (p.Thr256=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	JPH3-related disorder	GBenign
Select item 3037167	NM_020655.4(JPH3):c.821C>T (p.Ala274Val)	JPH3 (A274V)	Single nucleotide variant (missense variant +1 more)	JPH3-related disorder	GLikely benign
Select item 3052698	NM_020655.4(JPH3):c.840C>T (p.Ile280=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	JPH3-related disorder	GLikely benign
Select item 3057021	NM_020655.4(JPH3):c.960C>T (p.Arg320=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	JPH3-related disorder	GBenign
Select item 713606	NM_020655.4(JPH3):c.1033G>A (p.Gly345Ser)	JPH3 (G345S)	Single nucleotide variant (missense variant +1 more)	JPH3-related disorder +2 more	GLikely benign
Select item 780310	NM_020655.4(JPH3):c.1128C>T (p.Ile376=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	JPH3-related disorder +1 more	GBenign
Select item 3035477	NM_020655.4(JPH3):c.1921G>T (p.Asp641Tyr)	JPH3 (D641Y)	Single nucleotide variant (missense variant +1 more)	JPH3-related disorder	GLikely benign