"Illumina Laboratory Services, Illumina"[submitter] AND "NHLRC1"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 904016	NM_198586.3(NHLRC1):c.*886G>A	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease	GBenign
Select item 356057	NM_198586.3(NHLRC1):c.*875T>A	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease	GUncertain significance
Select item 356056	NM_198586.3(NHLRC1):c.*875T>C	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease	GLikely benign
Select item 356058	NM_198586.3(NHLRC1):c.*837G>A	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease	GUncertain significance
Select item 356059	NM_198586.3(NHLRC1):c.*797A>G	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease	GUncertain significance
Select item 356060	NM_198586.3(NHLRC1):c.*720T>C	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease	GLikely benign
Select item 356061	NM_198586.3(NHLRC1):c.*662C>G	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease	GUncertain significance
Select item 356062	NM_198586.3(NHLRC1):c.*626C>T	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease	GBenign
Select item 356063	NM_198586.3(NHLRC1):c.*621T>A	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease	GBenign
Select item 905889	NM_198586.3(NHLRC1):c.*537T>C	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease	GUncertain significance
Select item 356064	NM_198586.3(NHLRC1):c.*482C>G	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease	GBenign
Select item 356065	NM_198586.3(NHLRC1):c.*442G>C	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease	GUncertain significance
Select item 356066	NM_198586.3(NHLRC1):c.*406A>G	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease	GUncertain significance
Select item 356067	NM_198586.3(NHLRC1):c.358_361del	NHLRC1	Deletion (3 prime UTR variant)	Lafora disease	GUncertain significance
Select item 356068	NM_198586.3(NHLRC1):c.*344A>T	NHLRC1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 356069	NM_198586.3(NHLRC1):c.*336G>A	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease +1 more	GBenign
Select item 356070	NM_198586.3(NHLRC1):c.*332G>T	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease	GUncertain significance
Select item 906407	NM_198586.3(NHLRC1):c.*327G>C	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease	GUncertain significance
Select item 356071	NM_198586.3(NHLRC1):c.*326C>T	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease	GUncertain significance
Select item 356072	NM_198586.3(NHLRC1):c.*320G>A	NHLRC1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 356073	NM_198586.3(NHLRC1):c.*276G>C	NHLRC1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 356075	NM_198586.3(NHLRC1):c.*248C>A	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease	GUncertain significance
Select item 356074	NM_198586.3(NHLRC1):c.*248C>G	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease	GUncertain significance
Select item 356076	NM_198586.3(NHLRC1):c.*237T>C	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease +1 more	GBenign/Likely benign
Select item 907410	NM_198586.3(NHLRC1):c.*210T>C	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease	GUncertain significance
Select item 907411	NM_198586.3(NHLRC1):c.*175T>C	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease	GUncertain significance
Select item 907412	NM_198586.3(NHLRC1):c.*153A>T	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease	GUncertain significance
Select item 356077	NM_198586.3(NHLRC1):c.*85T>A	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease +1 more	GBenign/Likely benign
Select item 356078	NM_198586.3(NHLRC1):c.*61C>A	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease	GUncertain significance
Select item 356079	NM_198586.3(NHLRC1):c.*55G>C	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease	GBenign
Select item 904084	NM_198586.3(NHLRC1):c.*38G>T	NHLRC1	Single nucleotide variant (3 prime UTR variant)	Lafora disease	GUncertain significance
Select item 206182	NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu)	NHLRC1 (S364L)	Single nucleotide variant (missense variant)	Lafora disease +2 more	GConflicting classifications of pathogenicity
Select item 356080	NM_198586.3(NHLRC1):c.1076T>A (p.Val359Asp)	NHLRC1 (V359D)	Single nucleotide variant (missense variant)	Lafora disease +1 more	GUncertain significance
Select item 416515	NM_198586.3(NHLRC1):c.990G>A (p.Gln330=)	NHLRC1	Single nucleotide variant (synonymous variant)	NHLRC1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 206179	NM_198586.3(NHLRC1):c.969C>T (p.Ser323=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease +3 more	GConflicting classifications of pathogenicity
Select item 356081	NM_198586.3(NHLRC1):c.541A>G (p.Thr181Ala)	NHLRC1 (T181A)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 904085	NM_198586.3(NHLRC1):c.515A>G (p.Gln172Arg)	NHLRC1 (Q172R)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 206177	NM_198586.3(NHLRC1):c.513C>T (p.Ala171=)	NHLRC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 206189	NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg)	NHLRC1 (C160R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2588	NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs)	NHLRC1 (G158fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 356082	NM_198586.3(NHLRC1):c.397G>A (p.Ala133Thr)	NHLRC1 (A133T)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 129767	NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu)	NHLRC1 (P111L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 129766	NM_198586.3(NHLRC1):c.312T>C (p.His104=)	NHLRC1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 138522	NM_198586.3(NHLRC1):c.303G>T (p.Pro101=)	NHLRC1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 699775	NM_198586.3(NHLRC1):c.195C>A (p.Ala65=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GConflicting classifications of pathogenicity
Select item 904860	NM_198586.3(NHLRC1):c.107G>A (p.Arg36Gln)	NHLRC1 (R36Q)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 167350	NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)	NHLRC1 (A11E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity

ClinVar

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Items: 47