ClinVar for MedGen (Select 155631) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340092	NM_198586.3(NHLRC1):c.602T>C (p.Phe201Ser)	NHLRC1 (F201S)	Single nucleotide variant (missense variant)	Lafora disease	GLikely pathogenic
Select item 2991106	NM_198586.3(NHLRC1):c.519del (p.Asp173fs)	NHLRC1 (D173fs)	Deletion (frameshift variant)	Lafora disease	GPathogenic
Select item 2964455	NM_198586.3(NHLRC1):c.757A>C (p.Arg253=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 2914917	NM_198586.3(NHLRC1):c.711G>T (p.Gly237=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 2900326	NM_198586.3(NHLRC1):c.147G>A (p.Val49=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 2894755	NM_198586.3(NHLRC1):c.507C>T (p.Asp169=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 2891887	NM_198586.3(NHLRC1):c.227G>A (p.Arg76Gln)	NHLRC1 (R76Q)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 2878798	NM_198586.3(NHLRC1):c.9C>G (p.Ala3=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 2876335	NM_198586.3(NHLRC1):c.126C>T (p.Arg42=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 2868298	NM_198586.3(NHLRC1):c.414G>C (p.Thr138=)	NHLRC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2863829	NM_198586.3(NHLRC1):c.1120G>T (p.Glu374Ter)	NHLRC1 (E374*)	Single nucleotide variant (nonsense)	Lafora disease	GPathogenic
Select item 2829900	NM_198586.3(NHLRC1):c.742del (p.Glu248fs)	NHLRC1 (E248fs)	Deletion (frameshift variant)	Lafora disease	GPathogenic
Select item 2812879	NM_198586.3(NHLRC1):c.230del (p.Gly77fs)	NHLRC1 (G77fs)	Deletion (frameshift variant)	Lafora disease	GPathogenic
Select item 2734827	NM_198586.3(NHLRC1):c.137G>A (p.Cys46Tyr)	NHLRC1 (C46Y)	Single nucleotide variant (missense variant)	Lafora disease	GLikely pathogenic
Select item 2734825	NM_198586.3(NHLRC1):c.755G>C (p.Arg252Pro)	NHLRC1 (R252P)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 2722803	NM_198586.3(NHLRC1):c.807G>A (p.Val269=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 2721638	NM_198586.3(NHLRC1):c.702G>A (p.Ala234=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 2717577	NM_198586.3(NHLRC1):c.558_562del (p.His187fs)	NHLRC1 (H187fs)	Deletion (frameshift variant)	Lafora disease	GPathogenic
Select item 2689581	NM_198586.3(NHLRC1):c.621C>T (p.Ile207=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GUncertain significance
Select item 2689580	NM_198586.3(NHLRC1):c.76T>G (p.Cys26Gly)	NHLRC1 (C26G)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 2585246	NM_005670.4(EPM2A):c.476G>A (p.Arg159Lys)	EPM2A (R159K +1 more)	Single nucleotide variant (missense variant +2 more)	Lafora disease	GUncertain significance
Select item 2434353	NM_198586.3(NHLRC1):c.716T>C (p.Leu239Pro)	NHLRC1 (L239P)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 2434352	NM_198586.3(NHLRC1):c.647_649del (p.Ser216del)	NHLRC1 (S216del)	Deletion (inframe_deletion)	Lafora disease	GUncertain significance
Select item 2431059	NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter)	EPM2A, EPM2A-DT +1 more (W60*)	Single nucleotide variant (nonsense +2 more)	Progressive myoclonic epilepsy +1 more	GPathogenic/Likely pathogenic
Select item 2417565	NM_198586.3(NHLRC1):c.1185del (p.Ter396AspextTer?)	NHLRC1	Deletion (frameshift variant)	Lafora disease	GUncertain significance
Select item 2186119	NM_198586.3(NHLRC1):c.695C>T (p.Thr232Ile)	NHLRC1 (T232I)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 2182892	NM_198586.3(NHLRC1):c.646T>G (p.Ser216Ala)	NHLRC1 (S216A)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 2163864	NM_198586.3(NHLRC1):c.423C>G (p.Val141=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 2161113	NM_198586.3(NHLRC1):c.336A>G (p.Gly112=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 2156312	NM_198586.3(NHLRC1):c.185G>C (p.Arg62Pro)	NHLRC1 (R62P)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 2153754	NM_198586.3(NHLRC1):c.26G>T (p.Gly9Val)	NHLRC1 (G9V)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 2136368	NM_198586.3(NHLRC1):c.377T>C (p.Leu126Pro)	NHLRC1 (L126P)	Single nucleotide variant (missense variant)	Lafora disease	GLikely pathogenic
Select item 2130080	NM_198586.3(NHLRC1):c.553G>C (p.Asp185His)	NHLRC1 (D185H)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 2125957	NM_198586.3(NHLRC1):c.1008A>G (p.Ala336=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GUncertain significance
Select item 2123429	NM_198586.3(NHLRC1):c.121C>T (p.Pro41Ser)	NHLRC1 (P41S)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 2101769	NM_198586.3(NHLRC1):c.150C>T (p.Val50=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 2101143	NM_198586.3(NHLRC1):c.837G>A (p.Leu279=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 2100566	NM_198586.3(NHLRC1):c.831G>A (p.Ala277=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 2098636	NM_198586.3(NHLRC1):c.970G>T (p.Ala324Ser)	NHLRC1 (A324S)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 2095955	NM_198586.3(NHLRC1):c.746G>C (p.Gly249Ala)	NHLRC1 (G249A)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 2095021	NM_198586.3(NHLRC1):c.452T>A (p.Val151Asp)	NHLRC1 (V151D)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 2091501	NM_198586.3(NHLRC1):c.26G>A (p.Gly9Glu)	NHLRC1 (G9E)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 2079719	NM_198586.3(NHLRC1):c.896C>T (p.Ser299Leu)	NHLRC1 (S299L)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 2078455	NM_198586.3(NHLRC1):c.469G>A (p.Gly157Arg)	NHLRC1 (G157R)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 2060279	NM_198586.3(NHLRC1):c.378G>C (p.Leu126=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 2057198	NM_198586.3(NHLRC1):c.226C>T (p.Arg76Trp)	NHLRC1 (R76W)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 2026154	NM_198586.3(NHLRC1):c.759A>G (p.Arg253=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GUncertain significance
Select item 2024630	NM_198586.3(NHLRC1):c.930T>C (p.Phe310=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GUncertain significance
Select item 2022008	NM_198586.3(NHLRC1):c.372G>A (p.Gly124=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 2011650	NM_198586.3(NHLRC1):c.519C>T (p.Asp173=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GUncertain significance
Select item 2010803	NM_198586.3(NHLRC1):c.880G>A (p.Val294Met)	NHLRC1 (V294M)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 2010284	NM_198586.3(NHLRC1):c.565G>T (p.Val189Phe)	NHLRC1 (V189F)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 2007747	NM_198586.3(NHLRC1):c.454A>G (p.Lys152Glu)	NHLRC1 (K152E)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 2000259	NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter)	EPM2A, EPM2A-DT +1 more (E100*)	Single nucleotide variant (nonsense +2 more)	Lafora disease +1 more	GConflicting classifications of pathogenicity
Select item 1999335	NM_198586.3(NHLRC1):c.154C>G (p.Leu52Val)	NHLRC1 (L52V)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1998624	NM_198586.3(NHLRC1):c.10G>A (p.Glu4Lys)	NHLRC1 (E4K)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1975362	NM_198586.3(NHLRC1):c.827T>C (p.Ile276Thr)	NHLRC1 (I276T)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1969108	NM_198586.3(NHLRC1):c.797G>A (p.Gly266Glu)	NHLRC1 (G266E)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1907349	NM_198586.3(NHLRC1):c.969C>A (p.Ser323=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 1905051	NM_198586.3(NHLRC1):c.1076T>G (p.Val359Gly)	NHLRC1 (V359G)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1878581	NM_005670.4(EPM2A):c.789C>G (p.Tyr263Ter)	EPM2A (R183G +3 more)	Single nucleotide variant (nonsense +2 more)	Lafora disease	GUncertain significance
Select item 1734382	NM_198586.3(NHLRC1):c.372G>C (p.Gly124=)	NHLRC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1721014	NM_198586.3(NHLRC1):c.943T>A (p.Tyr315Asn)	NHLRC1 (Y315N)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1717671	NM_198586.3(NHLRC1):c.180C>A (p.His60Gln)	NHLRC1 (H60Q)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1714130	NM_198586.3(NHLRC1):c.551A>C (p.Asn184Thr)	NHLRC1 (N184T)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1713562	NM_198586.3(NHLRC1):c.272A>G (p.Glu91Gly)	NHLRC1 (E91G)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1696653	NM_198586.3(NHLRC1):c.1063C>T (p.Pro355Ser)	NHLRC1 (P355S)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1670535	NM_198586.3(NHLRC1):c.318C>T (p.Ala106=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 1658510	NM_198586.3(NHLRC1):c.630C>A (p.Val210=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 1643645	NM_198586.3(NHLRC1):c.690G>A (p.Val230=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 1635977	NM_198586.3(NHLRC1):c.1065G>C (p.Pro355=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 1632175	NM_198586.3(NHLRC1):c.582C>T (p.Gly194=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 1632123	NM_198586.3(NHLRC1):c.138C>T (p.Cys46=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease +1 more	GLikely benign
Select item 1620661	NM_198586.3(NHLRC1):c.1036T>C (p.Leu346=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 1577017	NM_198586.3(NHLRC1):c.303G>A (p.Pro101=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 1576265	NM_198586.3(NHLRC1):c.234C>T (p.Cys78=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 1554343	NM_198586.3(NHLRC1):c.108G>A (p.Arg36=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 1545932	NM_198586.3(NHLRC1):c.723C>A (p.Leu241=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 1544002	NM_198586.3(NHLRC1):c.483G>A (p.Ala161=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 1524781	NM_198586.3(NHLRC1):c.438C>A (p.Asp146Glu)	NHLRC1 (D146E)	Single nucleotide variant (missense variant)	Lafora disease	GLikely pathogenic
Select item 1520771	NM_198586.3(NHLRC1):c.23G>A (p.Ser8Asn)	NHLRC1 (S8N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1516782	NM_198586.3(NHLRC1):c.394C>A (p.Leu132Met)	NHLRC1 (L132M)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1515290	NM_198586.3(NHLRC1):c.935T>C (p.Leu312Pro)	NHLRC1 (L312P)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1512401	NM_198586.3(NHLRC1):c.34_35delinsGG (p.Leu12Gly)	NHLRC1 (L12G)	Indel (missense variant)	Lafora disease	GUncertain significance
Select item 1509208	NM_198586.3(NHLRC1):c.308C>T (p.Ala103Val)	NHLRC1 (A103V)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1506020	NM_198586.3(NHLRC1):c.659G>A (p.Gly220Asp)	NHLRC1 (G220D)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1496940	NM_198586.3(NHLRC1):c.659G>T (p.Gly220Val)	NHLRC1 (G220V)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1496894	NM_198586.3(NHLRC1):c.48G>A (p.Met16Ile)	NHLRC1 (M16I)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1496000	NM_198586.3(NHLRC1):c.1120G>A (p.Glu374Lys)	NHLRC1 (E374K)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1494505	NM_198586.3(NHLRC1):c.809C>A (p.Ser270Tyr)	NHLRC1 (S270Y)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1493578	NM_198586.3(NHLRC1):c.782T>C (p.Leu261Pro)	NHLRC1 (L261P)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1480222	NM_198586.3(NHLRC1):c.5C>A (p.Ala2Glu)	NHLRC1 (A2E)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1476267	NM_198586.3(NHLRC1):c.1027A>G (p.Ile343Val)	NHLRC1 (I343V)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1474866	NM_198586.3(NHLRC1):c.182C>A (p.Pro61Gln)	NHLRC1 (P61Q)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1472589	NM_198586.3(NHLRC1):c.1163_1164del (p.Lys388fs)	NHLRC1 (K388fs)	Deletion (frameshift variant)	Lafora disease	GLikely pathogenic
Select item 1463888	NM_198586.3(NHLRC1):c.970G>A (p.Ala324Thr)	NHLRC1 (A324T)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1461808	NM_198586.3(NHLRC1):c.319G>C (p.Ala107Pro)	NHLRC1 (A107P)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1460040	NC_000006.11:g.(?_18121650)_(18149358_?)del	NHLRC1, TPMT	Deletion	Lafora disease	GPathogenic
Select item 1453372	NM_198586.3(NHLRC1):c.799dup (p.Val267fs)	NHLRC1 (V267fs)	Duplication (frameshift variant)	Lafora disease	GPathogenic
Select item 1452637	NM_198586.3(NHLRC1):c.865_880del (p.Gly288_Val289insTer)	NHLRC1	Deletion (nonsense)	Lafora disease	GPathogenic

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