378884[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 152197	GRCh38/hg38 6p23-22.3(chr6:14958760-18580908)x3	ATXN1, ATXN1-AS1 +162 more	Copy number gain	See cases	GUncertain significance
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)	not provided +1 more	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)	not provided +1 more	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)	not provided +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)	not provided +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 2417565	NM_198586.3(NHLRC1):c.1185del (p.Ter396AspextTer?)	NHLRC1	Deletion (frameshift variant)	Lafora disease	GUncertain significance
Select item 513435	NM_198586.3(NHLRC1):c.1185G>A (p.Gly395=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease +1 more	GLikely benign
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 588994	NM_198586.3(NHLRC1):c.1183G>A (p.Gly395Arg)	NHLRC1 (G395R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 447765	NM_198586.3(NHLRC1):c.1175T>A (p.Val392Asp)	NHLRC1 (V392D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1450717	NM_198586.3(NHLRC1):c.1174G>A (p.Val392Ile)	NHLRC1 (V392I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1020456	NM_198586.3(NHLRC1):c.1166T>A (p.Val389Asp)	NHLRC1 (V389D)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 662660	NM_198586.3(NHLRC1):c.1165G>T (p.Val389Phe)	NHLRC1 (V389F)	Single nucleotide variant (missense variant)	Lafora disease +1 more	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 206192	NM_198586.3(NHLRC1):c.1142A>G (p.Asp381Gly)	NHLRC1 (D381G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 714149	NM_198586.3(NHLRC1):c.1137G>T (p.Val379=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 853751	NM_198586.3(NHLRC1):c.1132C>G (p.Leu378Val)	NHLRC1 (L378V)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 452098	NM_198586.3(NHLRC1):c.1127C>A (p.Ser376Tyr)	NHLRC1 (S376Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863829	NM_198586.3(NHLRC1):c.1120G>T (p.Glu374Ter)	NHLRC1 (E374*)	Single nucleotide variant (nonsense)	Lafora disease	GPathogenic
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 969123	NM_198586.3(NHLRC1):c.1109C>A (p.Thr370Asn)	NHLRC1 (T370N)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 760655	NM_198586.3(NHLRC1):c.1092G>A (p.Ser364=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease +1 more	GLikely benign
Select item 860910	NM_198586.3(NHLRC1):c.1091C>A (p.Ser364Ter)	NHLRC1 (S364*)	Single nucleotide variant (nonsense)	Lafora disease	GPathogenic
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 206181	NM_198586.3(NHLRC1):c.1090T>A (p.Ser364Thr)	NHLRC1 (S364T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1019903	NM_198586.3(NHLRC1):c.1087C>G (p.Leu363Val)	NHLRC1 (L363V)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
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 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 954994	NM_198586.3(NHLRC1):c.1072A>G (p.Met358Val)	NHLRC1 (M358V)	Single nucleotide variant (missense variant)	Lafora disease +1 more	GUncertain significance
Select item 206180	NM_198586.3(NHLRC1):c.1072A>C (p.Met358Leu)	NHLRC1 (M358L)	Single nucleotide variant (missense variant)	not specified	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 1092674	NM_198586.3(NHLRC1):c.1065G>A (p.Pro355=)	NHLRC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1052308	NM_198586.3(NHLRC1):c.1064C>T (p.Pro355Leu)	NHLRC1 (P355L)	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 1015663	NM_198586.3(NHLRC1):c.1058C>T (p.Pro353Leu)	NHLRC1 (P353L)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 531813	NM_198586.3(NHLRC1):c.1053G>C (p.Glu351Asp)	NHLRC1 (E351D)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 2571244	NM_198586.3(NHLRC1):c.1049_1050del (p.Glu350fs)	NHLRC1 (E350fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 934149	NM_198586.3(NHLRC1):c.1039G>A (p.Gly347Arg)	NHLRC1 (G347R)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1620661	NM_198586.3(NHLRC1):c.1036T>C (p.Leu346=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 1004976	NM_198586.3(NHLRC1):c.1034G>A (p.Cys345Tyr)	NHLRC1 (C345Y)	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 720580	NM_198586.3(NHLRC1):c.1026T>C (p.Ala342=)	NHLRC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1084453	NM_198586.3(NHLRC1):c.1017T>C (p.Ser339=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease +1 more	GLikely benign
Select item 462937	NM_198586.3(NHLRC1):c.1013C>T (p.Thr338Ile)	NHLRC1 (T338I)	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 2589	NM_198586.3(NHLRC1):c.992del (p.Gly331fs)	NHLRC1 (G331fs)	Deletion (frameshift variant)	Myoclonic epilepsy of Lafora 2	GPathogenic
Select item 416515	NM_198586.3(NHLRC1):c.990G>A (p.Gln330=)	NHLRC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 870825	NM_198586.3(NHLRC1):c.980T>G (p.Phe327Cys)	NHLRC1 (F327C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 669246	NM_198586.3(NHLRC1):c.977C>A (p.Thr326Asn)	NHLRC1 (T326N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 129768	NM_198586.3(NHLRC1):c.973G>A (p.Val325Met)	NHLRC1 (V325M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1463888	NM_198586.3(NHLRC1):c.970G>A (p.Ala324Thr)	NHLRC1 (A324T)	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 206179	NM_198586.3(NHLRC1):c.969C>T (p.Ser323=)	NHLRC1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 1515290	NM_198586.3(NHLRC1):c.935T>C (p.Leu312Pro)	NHLRC1 (L312P)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 513868	NM_198586.3(NHLRC1):c.933G>T (p.Gly311=)	NHLRC1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2024630	NM_198586.3(NHLRC1):c.930T>C (p.Phe310=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GUncertain significance
Select item 2592	NM_198586.3(NHLRC1):c.923A>C (p.Asp308Ala)	NHLRC1 (D308A)	Single nucleotide variant (missense variant)	Myoclonic epilepsy of Lafora 2	GPathogenic
Select item 946219	NM_198586.3(NHLRC1):c.913G>A (p.Gly305Ser)	NHLRC1 (G305S)	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 941732	NM_198586.3(NHLRC1):c.893G>T (p.Ser298Ile)	NHLRC1 (S298I)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 531815	NM_198586.3(NHLRC1):c.882G>T (p.Val294=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
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 1452637	NM_198586.3(NHLRC1):c.865_880del (p.Gly288_Val289insTer)	NHLRC1	Deletion (nonsense)	Lafora disease	GPathogenic
Select item 567398	NM_198586.3(NHLRC1):c.874A>T (p.Thr292Ser)	NHLRC1 (T292S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1114236	NM_198586.3(NHLRC1):c.855G>C (p.Leu285=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign
Select item 1372609	NM_198586.3(NHLRC1):c.845C>G (p.Pro282Arg)	NHLRC1 (P282R)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1360234	NM_198586.3(NHLRC1):c.845C>T (p.Pro282Leu)	NHLRC1 (P282L)	Single nucleotide variant (missense variant)	Lafora disease	GUncertain significance
Select item 1086397	NM_198586.3(NHLRC1):c.843C>T (p.His281=)	NHLRC1	Single nucleotide variant (synonymous variant)	Lafora disease	GLikely benign

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