ClinVar for MedGen (Select 155549) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2920674	GRCh38/hg38 16p12.1(chr16:28485965-28486930)x1	CLN3	Copy number loss	Neuronal ceroid lipofuscinosis 3	GPathogenic
Select item 2680827	NM_001042432.2(CLN3):c.250del (p.His84fs)	CLN3 (H30fs +2 more)	Deletion (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 2680826	NM_001042432.2(CLN3):c.467del (p.Val156fs)	CLN3 (V102fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 2680825	NM_001042432.2(CLN3):c.419del (p.Val140fs)	CLN3 (V116fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 2680824	NM_001042432.2(CLN3):c.125+2T>C	CLN3	Single nucleotide variant (intron variant +1 more)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 2680822	NM_001042432.2(CLN3):c.372C>G (p.Tyr124Ter)	CLN3 (Y100* +3 more)	Single nucleotide variant (nonsense +1 more)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 2680821	NM_001042432.2(CLN3):c.47-2del	CLN3	Deletion (intron variant +1 more)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 2680820	NM_001042432.2(CLN3):c.1055dup (p.Cys353fs)	CLN3 (C253fs +4 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 2680819	NM_001042432.2(CLN3):c.910G>T (p.Glu304Ter)	CLN3 (E204* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 2680818	NM_001042432.2(CLN3):c.375-2del	CLN3	Deletion (splice acceptor variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 2680817	NM_001042432.2(CLN3):c.849G>A (p.Trp283Ter)	CLN3 (W183* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 2680816	NM_001042432.2(CLN3):c.363dup (p.Leu122fs)	CLN3 (L122fs +3 more)	Duplication (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 2680815	NM_001042432.2(CLN3):c.678-1_680del	CLN3	Deletion (splice acceptor variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 2680814	NM_001042432.2(CLN3):c.937del (p.Ser312_Leu313insTer)	CLN3	Deletion (nonsense)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 2680813	NM_001042432.2(CLN3):c.379dup (p.Arg127fs)	CLN3 (R103fs +4 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 2680812	NM_001042432.2(CLN3):c.555del (p.Ser186fs)	CLN3 (S108fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 2627624	NM_001042432.2(CLN3):c.838-3C>G	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 2584852	NM_001042432.2(CLN3):c.222+3A>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 3	GUncertain significance
Select item 2435726	NM_001042432.2(CLN3):c.354_355insG (p.Leu119fs)	CLN3 (L119fs +3 more)	Insertion (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 3	GPathogenic
Select item 2431547	NC_000016.10:g.(28485964_28486930)del	CLN3	Deletion	Neuronal ceroid lipofuscinosis 3	GPathogenic
Select item 2417180	NM_001042432.2(CLN3):c.551G>A (p.Trp184Ter)	CLN3 (W106* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 2201536	NM_001042432.2(CLN3):c.126G>A (p.Trp42Ter)	CLN3 (W42*)	Single nucleotide variant (nonsense +1 more)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 2032700	NM_001042432.2(CLN3):c.552G>A (p.Trp184Ter)	CLN3 (W160* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 2012105	NM_001042432.2(CLN3):c.1115_1118dup (p.Val374fs)	CLN3 (V274fs +4 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 2001596	NM_001042432.2(CLN3):c.18del (p.Ser7fs)	CLN3 (S7fs)	Deletion (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 1908122	NM_001042432.2(CLN3):c.1197+1G>A	CLN3	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 1726924	NM_001042432.2(CLN3):c.276C>A (p.Cys92Ter)	CLN3 (A19E +2 more)	Single nucleotide variant (nonsense +2 more)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 1726715	NM_001042432.2(CLN3):c.528C>A (p.Tyr176Ter)	CLN3 (Y122* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 1726643	NM_001042432.2(CLN3):c.849del (p.Trp283fs)	CLN3 (W183fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 1726197	NM_001042432.2(CLN3):c.1038G>A (p.Trp346Ter)	CLN3 (W246* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 1725286	NM_001042432.2(CLN3):c.852C>G (p.Tyr284Ter)	CLN3 (Y184* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 1725180	NM_001042432.2(CLN3):c.610C>T (p.Gln204Ter)	CLN3 (Q104* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3	GPathogenic/Likely pathogenic
Select item 1685639	NM_001042432.2(CLN3):c.382dup (p.Val128fs)	CLN3 (V104fs +4 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GPathogenic
Select item 1438847	NM_001042432.2(CLN3):c.538G>A (p.Val180Met)	CLN3 (V156M +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 1378760	NM_001042432.2(CLN3):c.639del (p.Leu214fs)	CLN3 (L114fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 1213977	NM_001042432.2(CLN3):c.512C>T (p.Ser171Phe)	CLN3 (S117F +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 1172706	NM_001042432.2(CLN3):c.147C>G (p.Asn49Lys)	CLN3 (N49K)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 1104328	NM_001042432.2(CLN3):c.223-8C>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 3 +1 more	GLikely benign
Select item 1075948	NM_001042432.2(CLN3):c.992_993del (p.Phe331fs)	CLN3 (F307fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 3 +2 more	GPathogenic/Likely pathogenic
Select item 1065784	NM_001042432.2(CLN3):c.317T>A (p.Leu106His)	CLN3 (L106H +3 more)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 3	GUncertain significance
Select item 1061163	NM_001042432.2(CLN3):c.791-7C>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 3 +1 more	GConflicting classifications of pathogenicity
Select item 1019427	NM_001042432.2(CLN3):c.379C>T (p.Arg127Trp)	CLN3 (R103W +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 996830	NM_001042432.2(CLN3):c.1127del (p.Leu376fs)	CLN3 (L276fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 983870	NM_001042432.2(CLN3):c.962G>A (p.Trp321Ter)	CLN3 (W221* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 975016	NM_001042432.2(CLN3):c.1075del (p.Leu359fs)	CLN3 (L259fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 953100	NM_001042432.2(CLN3):c.125+1G>C	CLN3	Single nucleotide variant (intron variant +1 more)	Neuronal ceroid lipofuscinosis 3 +1 more	GPathogenic
Select item 950856	NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)	CLN3 (A5T +1 more)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 3 +3 more	GConflicting classifications of pathogenicity
Select item 948224	NM_001042432.2(CLN3):c.534-2A>G	CLN3	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 915981	GRCh37/hg19 16p11.2(chr16:28497668-28497972)	CLN3	Copy number loss	Neuronal ceroid lipofuscinosis 3	GPathogenic
Select item 887914	NM_001042432.2(CLN3):c.*58A>C	CLN3	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 3	GUncertain significance
Select item 887913	NM_001042432.2(CLN3):c.*111G>T	CLN3	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 3	GUncertain significance
Select item 886715	NM_001042432.2(CLN3):c.565G>T (p.Gly189Trp)	CLN3 (G135W +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 3	GConflicting classifications of pathogenicity
Select item 886661	NM_001042432.2(CLN3):c.*187G>A	CLN3	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 3	GUncertain significance
Select item 885762	NM_001042432.1(CLN3):c.-364C>T	CLN3	Single nucleotide variant	Neuronal ceroid lipofuscinosis 3	GUncertain significance
Select item 885761	NM_001042432.1(CLN3):c.-279G>C	CLN3	Single nucleotide variant	Neuronal ceroid lipofuscinosis 3	GUncertain significance
Select item 885760	NM_001042432.1(CLN3):c.-210G>T	CLN3	Single nucleotide variant	Neuronal ceroid lipofuscinosis 3	GUncertain significance
Select item 885708	NM_001042432.2(CLN3):c.759C>A (p.Leu253=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 3 +2 more	GConflicting classifications of pathogenicity
Select item 885707	NM_001042432.2(CLN3):c.868G>A (p.Val290Ile)	CLN3 (V290I +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 3	GUncertain significance
Select item 884834	NM_001042432.2(CLN3):c.206C>G (p.Ser69Trp)	CLN3 (S15W +1 more)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 884764	NM_001042432.2(CLN3):c.1084G>A (p.Asp362Asn)	CLN3 (D284N +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 884763	NM_001042432.2(CLN3):c.1119C>T (p.Leu373=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 3 +1 more	GConflicting classifications of pathogenicity
Select item 866297	NM_001042432.2(CLN3):c.751C>T (p.Gln251Ter)	CLN3 (Q251* +4 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 855169	NM_001042432.2(CLN3):c.464T>G (p.Val155Gly)	CLN3 (V101G +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 3 +2 more	GUncertain significance
Select item 852619	NM_001042432.2(CLN3):c.790+2T>C	CLN3	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 840500	NM_001042432.2(CLN3):c.782C>T (p.Ser261Leu)	CLN3 (S161L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 813302	GRCh37/hg19 16p11.2(chr16:28497668-28497971)	CLN3	Copy number loss	Neuronal ceroid lipofuscinosis 3	GPathogenic
Select item 696510	NM_001042432.2(CLN3):c.126-8C>T	CLN3	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 666431	NM_001042432.2(CLN3):c.460+376_677+388del	CLN3	Deletion (splice acceptor variant +1 more)	Neuronal ceroid lipofuscinosis 3	GPathogenic
Select item 655836	NM_001042432.2(CLN3):c.461-1G>T	CLN3	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 632772	NM_001042432.2(CLN3):c.790+532_1056+1445del	CLN3	Deletion (splice acceptor variant +1 more)	Neuronal ceroid lipofuscinosis 3	GPathogenic
Select item 588067	NM_001042432.2(CLN3):c.1203T>A (p.Ser401Arg)	CLN3 (S401R +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 585706	NM_001042432.2(CLN3):c.1285C>T (p.Pro429Ser)	CLN3 (P429S +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 582340	NM_001042432.2(CLN3):c.1240A>G (p.Ile414Val)	CLN3 (I414V +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 581864	NM_001042432.2(CLN3):c.644C>A (p.Ser215Tyr)	CLN3 (S215Y +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 566426	NM_001042432.2(CLN3):c.47-3C>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 558574	NM_001042432.2(CLN3):c.46+1G>C	CLN3	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 557749	NM_001042432.2(CLN3):c.963-63_963-44dup	CLN3	Duplication (intron variant)	Neuronal ceroid lipofuscinosis 3	GLikely benign
Select item 556560	NM_001042432.2(CLN3):c.295-2A>C	CLN3	Single nucleotide variant (splice acceptor variant +1 more)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 554608	NM_001042432.2(CLN3):c.47-1G>A	CLN3	Single nucleotide variant (intron variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GConflicting classifications of pathogenicity
Select item 552706	NM_001042432.2(CLN3):c.790+1del	CLN3	Deletion (splice donor variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 552523	NM_001042432.2(CLN3):c.223-1G>A	CLN3	Single nucleotide variant (intron variant +1 more)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 551790	NM_001042432.2(CLN3):c.125+1del	CLN3	Deletion (intron variant +1 more)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 550666	NM_001042432.2(CLN3):c.195dup (p.Lys66fs)	CLN3 (K66fs +1 more)	Duplication (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 550544	NM_001042432.2(CLN3):c.1116C>G (p.Tyr372Ter)	CLN3 (Y372* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 550268	NM_001042432.2(CLN3):c.1A>G (p.Met1Val)	CLN3 (M1V)	Single nucleotide variant (missense variant +2 more)	Neuronal ceroid lipofuscinosis +2 more	GPathogenic/Likely pathogenic
Select item 550088	NM_001042432.2(CLN3):c.1067dup (p.Val357fs)	CLN3 (V303fs +4 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 550025	NM_001042432.2(CLN3):c.963-2A>C	CLN3	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 527729	NM_001042432.2(CLN3):c.748C>T (p.Arg250Trp)	CLN3 (R250W +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 3 +1 more	GUncertain significance
Select item 511038	NM_001042432.2(CLN3):c.615C>T (p.Ala205=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +2 more	GLikely benign
Select item 509647	NM_001042432.2(CLN3):c.309G>A (p.Ala103=)	CLN3	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 509384	NM_001042432.2(CLN3):c.870A>G (p.Val290=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 502109	NM_001042432.2(CLN3):c.1087G>A (p.Val363Met)	CLN3 (V363M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 497479	NM_001042432.2(CLN3):c.771G>C (p.Glu257Asp)	CLN3 (E257D +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 497408	NM_001042432.2(CLN3):c.152C>T (p.Ser51Phe)	CLN3 (S51F)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 3 +2 more	GUncertain significance
Select item 457954	NM_001042432.2(CLN3):c.569dup (p.Ala191fs)	CLN3 (A113fs +4 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 3 +2 more	GPathogenic
Select item 457953	NM_001042432.2(CLN3):c.447G>T (p.Gly149=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 3 +2 more	GLikely benign
Select item 457951	NM_001042432.2(CLN3):c.222T>C (p.His74=)	CLN3 (M1T)	Single nucleotide variant (synonymous variant +2 more)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 449598	NM_001042432.2(CLN3):c.239C>T (p.Thr80Met)	CLN3 (T80M +2 more)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 3 +2 more	GUncertain significance
Select item 438235	NM_001042432.2(CLN3):c.461-279_677+384del	CLN3	Deletion (splice acceptor variant +1 more)	Neuronal ceroid lipofuscinosis 3	GPathogenic
Select item 438225	NM_001042432.2(CLN3):c.853A>G (p.Ile285Val)	CLN3 (I285V +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance

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