ClinVar for MedGen (Select 1631104) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377655	NM_015331.3(NCSTN):c.278dup (p.Tyr94fs)	NCSTN (Y74fs +1 more)	Duplication (frameshift variant)	Acne inversa, familial, 1	GLikely pathogenic
Select item 2500064	NM_015331.3(NCSTN):c.1179+6C>G	NCSTN	Single nucleotide variant (intron variant)	Acne inversa, familial, 1	GUncertain significance
Select item 2430258	NM_015331.3(NCSTN):c.1101_1101+17delinsTGTCCA	NCSTN	Indel (splice donor variant)	Acne inversa, familial, 1	GPathogenic
Select item 1606190	NM_015331.3(NCSTN):c.437-12C>G	NCSTN	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1179001	NM_015331.3(NCSTN):c.1285C>T (p.Arg429Ter)	NCSTN (R429* +2 more)	Single nucleotide variant (nonsense)	Acne inversa, familial, 1	GPathogenic
Select item 1179000	NM_015331.3(NCSTN):c.97G>A (p.Gly33Arg)	NCSTN (G33R +1 more)	Single nucleotide variant (missense variant)	Acne inversa, familial, 1	GPathogenic
Select item 1170163	NM_015331.3(NCSTN):c.1249A>T (p.Asn417Tyr)	NCSTN (N279Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1167236	NM_015331.3(NCSTN):c.1101+13T>C	NCSTN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1165454	NM_015331.3(NCSTN):c.996+7G>A	NCSTN	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 559854	NM_015331.3(NCSTN):c.944C>T (p.Ala315Val)	NCSTN (A295V +1 more)	Single nucleotide variant (missense variant +1 more)	Acne inversa, familial, 1 +1 more	GConflicting classifications of pathogenicity
Select item 446481	NM_015331.3(NCSTN):c.1101+1G>A	NCSTN	Single nucleotide variant (splice donor variant)	Acne inversa, familial, 1	GPathogenic
Select item 225419	NM_015331.3(NCSTN):c.1300C>T (p.Arg434Ter)	NCSTN (R434* +2 more)	Single nucleotide variant (nonsense)	Acne inversa, familial, 1	GPathogenic
Select item 30454	NM_015331.3(NCSTN):c.349C>T (p.Arg117Ter)	NCSTN (R117* +1 more)	Single nucleotide variant (nonsense)	Acne inversa, familial, 1	GPathogenic
Select item 30453	NM_015331.3(NCSTN):c.1551+1G>A	NCSTN	Single nucleotide variant (splice donor variant)	Acne inversa, familial, 1	GPathogenic
Select item 30452	NM_015331.3(NCSTN):c.1752del (p.Glu584fs)	NCSTN (E564fs +2 more)	Deletion (frameshift variant)	Acne inversa, familial, 1	GPathogenic