"Ambry Genetics"[submitter] AND "NCL"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2293474	NM_005381.3(NCL):c.2120C>T (p.Thr707Met)	LOC114004369, NCL (T707M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369276	NM_005381.3(NCL):c.1984G>A (p.Gly662Ser)	NCL (G662S)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 3183261	NM_005381.3(NCL):c.1951G>T (p.Gly651Cys)	NCL (G651C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609876	NM_005381.3(NCL):c.1863G>C (p.Glu621Asp)	NCL (E621D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298814	NM_005381.3(NCL):c.1646A>G (p.Glu549Gly)	NCL (E549G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394806	NM_005381.3(NCL):c.1613A>C (p.Glu538Ala)	NCL (E538A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319472	NM_005381.3(NCL):c.1606G>A (p.Ala536Thr)	NCL (A536T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615098	NM_005381.3(NCL):c.1592C>G (p.Ala531Gly)	NCL (A531G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214986	NM_005381.3(NCL):c.1552C>A (p.Gln518Lys)	NCL (Q518K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183244	NM_005381.3(NCL):c.1169G>A (p.Arg390Gln)	NCL (R390Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397054	NM_005381.3(NCL):c.1021G>A (p.Val341Ile)	NCL (V341I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183240	NM_005381.3(NCL):c.1004A>G (p.Asp335Gly)	NCL (D335G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183282	NM_005381.3(NCL):c.923A>G (p.Asn308Ser)	NCL (N308S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298813	NM_005381.3(NCL):c.799G>A (p.Glu267Lys)	NCL (E267K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183277	NM_005381.3(NCL):c.753A>T (p.Glu251Asp)	NCL (E251D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2269853	NM_005381.3(NCL):c.748G>A (p.Asp250Asn)	NCL (D250N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315970	NM_005381.3(NCL):c.714A>T (p.Glu238Asp)	NCL (E238D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183270	NM_005381.3(NCL):c.686C>T (p.Ala229Val)	NCL (A229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523472	NM_005381.3(NCL):c.641C>T (p.Thr214Ile)	NCL (T214I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183265	NM_005381.3(NCL):c.597T>G (p.Asp199Glu)	NCL (D199E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2301943	NM_005381.3(NCL):c.556G>T (p.Asp186Tyr)	NCL (D186Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547186	NM_005381.3(NCL):c.400G>T (p.Ala134Ser)	NCL (A134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244466	NM_005381.3(NCL):c.166G>A (p.Ala56Thr)	NCL (A56T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480961	NM_005381.3(NCL):c.136G>A (p.Val46Ile)	NCL (V46I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 24