"PreventionGenetics, part of Exact Sciences"[submitter] AND "B9D2"[gen - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 261879	NM_030578.4(B9D2):c.*18G>A	B9D2	Single nucleotide variant (3 prime UTR variant)	not specified +4 more	GBenign
Select item 3047047	NM_030578.4(B9D2):c.516C>A (p.Gly172=)	B9D2	Single nucleotide variant (synonymous variant)	B9D2-related disorder	GLikely benign
Select item 261882	NM_030578.4(B9D2):c.513C>T (p.Tyr171=)	B9D2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 699099	NM_030578.4(B9D2):c.336G>A (p.Thr112=)	B9D2	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 1970648	NM_030578.4(B9D2):c.224G>A (p.Arg75Gln)	B9D2 (R75Q)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome +2 more	GLikely benign
Select item 261880	NM_030578.4(B9D2):c.215-16C>G	B9D2	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +2 more	GBenign
Select item 241603	NM_030578.4(B9D2):c.195C>T (p.Phe65=)	B9D2	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +3 more	GBenign/Likely benign
Select item 2054993	NM_030578.4(B9D2):c.132G>A (p.Thr44=)	B9D2	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +2 more	GLikely benign
Select item 261883	NM_030578.4(B9D2):c.88+6C>T	B9D2	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +4 more	GBenign/Likely benign
Select item 261881	NM_030578.4(B9D2):c.33A>G (p.Ile11Met)	B9D2 (I11M)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign