ClinVar for MedGen (Select 1778108) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062101	NM_021102.4(SPINT2):c.166_167dup (p.Asn57fs)	SPINT2 (N57fs)	Duplication (frameshift variant +1 more)	Congenital secretory sodium diarrhea 3	GPathogenic
Select item 2690070	NM_021102.4(SPINT2):c.122C>T (p.Ser41Leu)	SPINT2 (S41L)	Single nucleotide variant (missense variant +1 more)	Congenital secretory sodium diarrhea 3	GUncertain significance
Select item 2500740	NM_021102.4(SPINT2):c.421C>G (p.Pro141Ala)	SPINT2 (P141A +1 more)	Single nucleotide variant (missense variant)	Congenital secretory sodium diarrhea 3	GLikely pathogenic
Select item 1481882	NM_021102.4(SPINT2):c.593-2_593del	SPINT2	Deletion (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1321871	NM_021102.4(SPINT2):c.386A>G (p.Tyr129Cys)	SPINT2 (Y129C +1 more)	Single nucleotide variant (missense variant)	Congenital secretory sodium diarrhea 3	GLikely pathogenic
Select item 1028719	NM_021102.4(SPINT2):c.553C>T (p.Arg185Cys)	SPINT2 (R128C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 635284	NM_021102.4(SPINT2):c.447G>A (p.Trp149Ter)	SPINT2 (W149* +1 more)	Single nucleotide variant (nonsense)	Congenital secretory sodium diarrhea 3	GPathogenic
Select item 157607	NM_021102.4(SPINT2):c.502G>A (p.Gly168Ser)	SPINT2 (G168S +1 more)	Single nucleotide variant (missense variant)	Congenital secretory sodium diarrhea 3	GPathogenic
Select item 5208	NM_021102.4(SPINT2):c.1A>T (p.Met1Leu)	SPINT2 (M1L)	Single nucleotide variant (missense variant +1 more)	Congenital secretory sodium diarrhea 3	GPathogenic
Select item 5207	NM_021102.4(SPINT2):c.553+2T>A	SPINT2	Single nucleotide variant (splice donor variant)	Congenital secretory sodium diarrhea 3	GPathogenic
Select item 5206	NM_021102.4(SPINT2):c.337+2T>C	SPINT2	Single nucleotide variant (splice donor variant)	Congenital secretory sodium diarrhea 3	GPathogenic
Select item 5205	NM_021102.4(SPINT2):c.488A>G (p.Tyr163Cys)	SPINT2 (Y163C +1 more)	Single nucleotide variant (missense variant)	Congenital secretory sodium diarrhea 3 +1 more	GPathogenic
Select item 5204	NM_021102.4(SPINT2):c.593-1G>A	SPINT2	Single nucleotide variant (splice acceptor variant)	Congenital secretory sodium diarrhea 3	GPathogenic