C1843366[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 555990	NM_006432.5(NPC2):c.442-1G>A	NPC2	Single nucleotide variant (3 prime UTR variant +1 more)	Niemann-Pick disease, type C2	GUncertain significance
Select item 8485	NM_006432.5(NPC2):c.436C>T (p.Gln146Ter)	NPC2 (Q146*)	Single nucleotide variant (nonsense +1 more)	Niemann-Pick disease, type C +1 more	GPathogenic/Likely pathogenic
Select item 554860	NM_006432.5(NPC2):c.417CTG[1] (p.Cys140del)	NPC2 (C140del)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 553522	NM_006432.5(NPC2):c.422G>A (p.Trp141Ter)	NPC2 (W141*)	Single nucleotide variant (nonsense +1 more)	Niemann-Pick disease, type C2	GPathogenic/Likely pathogenic
Select item 550768	NM_006432.5(NPC2):c.364-2A>G	NPC2	Single nucleotide variant (splice acceptor variant +1 more)	Niemann-Pick disease, type C2	GLikely pathogenic
Select item 8480	NM_006432.5(NPC2):c.352G>T (p.Glu118Ter)	NPC2 (E118*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C2 +1 more	GPathogenic
Select item 550596	NM_006432.5(NPC2):c.333T>G (p.Asn111Lys)	NPC2 (N111K)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2	GUncertain significance
Select item 554877	NM_006432.5(NPC2):c.191-1_193del	NPC2	Deletion (splice acceptor variant)	Niemann-Pick disease, type C2	GLikely pathogenic
Select item 549984	NM_006432.5(NPC2):c.140G>T (p.Cys47Phe)	NPC2 (C47F)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C2	GUncertain significance
Select item 8477	NM_006432.5(NPC2):c.58G>T (p.Glu20Ter)	NPC2 (E20*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C2 +2 more	GPathogenic
Select item 557572	NM_006432.5(NPC2):c.3G>A (p.Met1Ile)	NPC2 (M1I)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type C2	GPathogenic/Likely pathogenic
Select item 553474	NM_006432.5(NPC2):c.2T>C (p.Met1Thr)	NPC2 (M1T)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type C2	GLikely pathogenic
Select item 554412	NM_006432.5(NPC2):c.1A>G (p.Met1Val)	NPC2 (M1V)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type C2	GLikely pathogenic