ClinVar for Gene (Select 378884) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368211	NM_198586.3(NHLRC1):c.772C>A (p.Gln258Lys)	NHLRC1 (Q258K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3338809	NM_198586.3(NHLRC1):c.836T>C (p.Leu279Pro)	NHLRC1 (L279P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3336988	NM_198586.3(NHLRC1):c.332_333insT (p.Gly112fs)	NHLRC1 (G112fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 3299634	NM_198586.3(NHLRC1):c.607T>A (p.Phe203Ile)	NHLRC1 (F203I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3241989	NM_198586.3(NHLRC1):c.130C>G (p.Leu44Val)	NHLRC1 (L44V)	Single nucleotide variant (missense variant)	Myoclonic epilepsy of Lafora 1	GUncertain significance
Select item 3199774	NM_198586.3(NHLRC1):c.618G>C (p.Gln206His)	NHLRC1 (Q206H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199746	NM_198586.3(NHLRC1):c.1183G>T (p.Gly395Trp)	NHLRC1 (G395W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062930	GRCh37/hg19 6p22.3(chr6:18012026-18313034)x1	DEK, KDM1B +2 more	Copy number loss	not specified	GUncertain significance
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)	Lafora disease +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 2684189	NM_198586.3(NHLRC1):c.224G>C (p.Cys75Ser)	NHLRC1 (C75S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682920	NM_198586.3(NHLRC1):c.431T>C (p.Val144Ala)	NHLRC1 (V144A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571244	NM_198586.3(NHLRC1):c.1049_1050del (p.Glu350fs)	NHLRC1 (E350fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2560243	NM_198586.3(NHLRC1):c.830C>T (p.Ala277Val)	NHLRC1 (A277V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477007	NM_198586.3(NHLRC1):c.794G>A (p.Arg265Gln)	NHLRC1 (R265Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2417565	NM_198586.3(NHLRC1):c.1185del (p.Ter396AspextTer?)	NHLRC1	Deletion (frameshift variant)	Lafora disease	GUncertain significance
Select item 2260817	NM_198586.3(NHLRC1):c.641A>T (p.Gln214Leu)	NHLRC1 (Q214L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237704	NM_198586.3(NHLRC1):c.43C>T (p.Leu15Phe)	NHLRC1 (L15F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230845	NM_198586.3(NHLRC1):c.201G>C (p.Glu67Asp)	NHLRC1 (E67D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1809386	GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1	ATXN1, CAP2 +32 more	Copy number loss	not provided	GPathogenic
Select item 1757814	NM_198586.3(NHLRC1):c.722T>A (p.Leu241His)	NHLRC1 (L241H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1736827	NM_198586.3(NHLRC1):c.399G>A (p.Ala133=)	NHLRC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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

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