"GeneDx"[submitter] AND "SPINT2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1237272	NC_000019.10:g.38264308G>A	LOC130064342, SPINT2	Single nucleotide variant	not provided	GBenign
Select item 1276397	NC_000019.10:g.38264348G>A	LOC130064342, SPINT2	Single nucleotide variant	not provided	GBenign
Select item 1286126	NC_000019.10:g.38264452C>G	LOC130064342, SPINT2	Single nucleotide variant	not provided	GBenign
Select item 1278110	NM_021102.4(SPINT2):c.-127C>G	SPINT2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1243494	NM_021102.4(SPINT2):c.106+107C>T	SPINT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262612	NM_021102.4(SPINT2):c.106+226C>T	SPINT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286399	NM_021102.4(SPINT2):c.107-301A>G	SPINT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265901	NM_021102.4(SPINT2):c.337+42A>G	SPINT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1810622	NM_021102.4(SPINT2):c.342del (p.Arg115fs)	SPINT2 (R58fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic