ClinVar for MedGen (Select 376792) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362324	NM_006493.4(CLN5):c.429del (p.Cys144fs)	CLN5 (C144fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 3242448	NM_006493.4(CLN5):c.339+2T>A	CLN5	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 5	GPathogenic
Select item 3241179	NM_006493.4(CLN5):c.655G>T (p.Glu219Ter)	CLN5 (E219* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 3241178	NM_006493.4(CLN5):c.609del (p.Asn203fs)	CLN5 (N203fs)	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 3241177	NM_006493.4(CLN5):c.968T>A (p.Leu323Ter)	CLN5 (L323* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 3067848	NM_006493.4(CLN5):c.997C>T (p.Pro333Ser)	CLN5 (P333S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2866615	NM_006493.4(CLN5):c.441_442dup (p.His148fs)	CLN5 (H148fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 5 +1 more	GPathogenic/Likely pathogenic
Select item 2680839	NM_006493.4(CLN5):c.306G>A (p.Trp102Ter)	CLN5 (W102* +1 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2680838	NM_006493.4(CLN5):c.173+1G>A	CLN5, LOC130009913	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely pathogenic
Select item 2680837	NM_006493.4(CLN5):c.969_972del (p.Leu323fs)	CLN5 (L323fs)	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2680836	NM_006493.4(CLN5):c.431_432del (p.Cys144fs)	CLN5 (C144fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 5 +1 more	GPathogenic/Likely pathogenic
Select item 2680835	NM_006493.4(CLN5):c.114_124dup (p.Ser42fs)	CLN5, LOC130009913 (S42fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2680834	NM_006493.4(CLN5):c.34G>T (p.Glu12Ter)	CLN5, LOC130009913 (E12* +1 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2680833	NM_006493.4(CLN5):c.400G>T (p.Glu134Ter)	CLN5 (E134* +1 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2680831	NM_006493.4(CLN5):c.474del (p.Trp158fs)	CLN5 (W158fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2680830	NM_006493.4(CLN5):c.342_346dup (p.Met116fs)	CLN5 (M116fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2680829	NM_006493.4(CLN5):c.627T>A (p.Tyr209Ter)	CLN5 (Y209* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2680828	NM_006493.4(CLN5):c.717dup (p.Asn240Ter)	CLN5 (N240*)	Duplication (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2627622	NM_006493.4(CLN5):c.361G>A (p.Gly121Arg)	CLN5 (G121R +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2627621	NM_006493.4(CLN5):c.525G>A (p.Trp175Ter)	CLN5 (W175* +1 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2627620	NM_006493.4(CLN5):c.626A>G (p.Tyr209Cys)	CLN5 (Y209C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2627619	NM_006493.4(CLN5):c.350A>C (p.His117Pro)	CLN5 (H117P +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2585570	NM_006493.4(CLN5):c.75_81del (p.Trp26fs)	CLN5, LOC130009913 (W26fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2440144	NM_006493.4(CLN5):c.224C>G (p.Thr75Ser)	CLN5 (T124S +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 2440143	NM_006493.2(CLN5):c.70G>C (p.Gly24Arg)	CLN5 (G24R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 2435733	NM_006493.4(CLN5):c.639_640insTT (p.Val214fs)	CLN5 (V214fs)	Insertion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GPathogenic
Select item 2043193	NM_006493.4(CLN5):c.340-52_365delinsTAACGGG	CLN5	Indel (splice acceptor variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely pathogenic
Select item 1878641	NM_006493.4(CLN5):c.42del (p.Arg15fs)	CLN5, LOC130009913 (R15fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 1724110	NM_006493.4(CLN5):c.338T>A (p.Leu113Ter)	CLN5 (L113* +1 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 1705835	NM_006493.4(CLN5):c.434C>A (p.Thr145Lys)	CLN5 (T145K +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 1679850	NM_006493.4(CLN5):c.475T>C (p.Cys159Arg)	CLN5 (C159R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5 +1 more	GConflicting classifications of pathogenicity
Select item 1454025	NM_006493.4(CLN5):c.987T>G (p.Tyr329Ter)	CLN5 (Y329*)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5 +1 more	GPathogenic/Likely pathogenic
Select item 1425365	NM_006493.4(CLN5):c.404G>A (p.Trp135Ter)	CLN5 (W135*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic
Select item 1398715	NM_006493.4(CLN5):c.3G>A (p.Met1Ile)	CLN5 (M1I)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 1216165	NM_006493.4(CLN5):c.287G>A (p.Arg96Gln)	CLN5 (R96Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5 +2 more	GUncertain significance
Select item 1210380	NM_006493.4(CLN5):c.981del (p.Phe327fs)	CLN5 (F327fs)	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 1075843	NM_006493.4(CLN5):c.207_213del (p.Pro68_Tyr69insTer)	CLN5	Deletion (nonsense)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 1075607	NM_006493.4(CLN5):c.580C>T (p.Gln194Ter)	CLN5 (Q194*)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic
Select item 1073281	NM_006493.4(CLN5):c.812del (p.Asn271fs)	CLN5 (N271fs)	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic
Select item 1072711	NM_006493.4(CLN5):c.990G>A (p.Trp330Ter)	CLN5 (W330*)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic
Select item 991766	NM_006493.4(CLN5):c.764A>C (p.Asn255Thr)	CLN5 (N255T)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 991765	NM_006493.4(CLN5):c.89T>C (p.Leu30Pro)	CLN5, LOC130009913 (L30P)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 991764	NM_006493.4(CLN5):c.77G>C (p.Trp26Ser)	CLN5, LOC130009913 (W26S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 991763	NM_006493.4(CLN5):c.-98G>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 989656	NM_006493.4(CLN5):c.963C>T (p.Phe321=)	CLN5	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 968752	NM_006493.4(CLN5):c.838G>T (p.Gly280Ter)	CLN5 (G280*)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 952807	NM_006493.4(CLN5):c.173+5G>A	CLN5, LOC130009913	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GConflicting classifications of pathogenicity
Select item 946204	NM_006493.4(CLN5):c.112del (p.Val38fs)	CLN5, LOC130009913 (V38fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic
Select item 934097	NM_006493.4(CLN5):c.420A>G (p.Gln140=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 5 +1 more	GConflicting classifications of pathogenicity
Select item 929174	NM_006493.4(CLN5):c.174-2A>G	CLN5	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 884084	NM_006493.4(CLN5):c.*1490A>G	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 884025	NM_006493.4(CLN5):c.864A>G (p.Ile288Met)	CLN5 (I288M)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 884024	NM_006493.4(CLN5):c.806T>G (p.Leu269Arg)	CLN5 (L269R)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 884023	NM_006493.4(CLN5):c.773G>T (p.Arg258Ile)	CLN5 (R258I)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5 +1 more	GUncertain significance
Select item 883281	NM_006493.4(CLN5):c.*1159G>A	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 5	GBenign
Select item 883280	NM_006493.4(CLN5):c.*975G>A	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 883279	NM_006493.4(CLN5):c.*963T>G	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 883278	NM_006493.4(CLN5):c.*833C>T	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 883229	NM_006493.4(CLN5):c.572T>C (p.Met191Thr)	CLN5 (M191T)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5 +1 more	GUncertain significance
Select item 883228	NM_006493.4(CLN5):c.133T>C (p.Ser45Pro)	CLN5, LOC130009913 (S45P)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 882135	NM_006493.4(CLN5):c.*636A>G	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 882134	NM_006493.4(CLN5):c.*614C>T	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 882133	NM_006493.4(CLN5):c.*609A>G	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 882132	NM_006493.4(CLN5):c.*468G>C	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 882131	NM_006493.4(CLN5):c.*269G>A	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 5 +1 more	GLikely benign
Select item 882130	NM_006493.4(CLN5):c.*263A>T	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 882077	NM_006493.4(CLN5):c.-8G>A	CLN5	Single nucleotide variant (5 prime UTR variant)	Neuronal ceroid lipofuscinosis 5 +1 more	GUncertain significance
Select item 880732	NM_006493.4(CLN5):c.*163G>A	CLN5	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 863685	NM_006493.4(CLN5):c.83G>A (p.Trp28Ter)	CLN5, LOC130009913 (W28*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 5 +1 more	GPathogenic
Select item 858697	NM_006493.4(CLN5):c.965_968del (p.Tyr322fs)	CLN5 (Y322fs)	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic
Select item 835320	NM_006493.4(CLN5):c.-94A>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 813489	NM_006493.4(CLN5):c.-97del	CLN5	Deletion	Neuronal ceroid lipofuscinosis 5 +3 more	GConflicting classifications of pathogenicity
Select item 703743	NM_006493.4(CLN5):c.-103G>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 699262	NM_006493.4(CLN5):c.1026A>G (p.Thr342=)	CLN5	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5 +2 more	GConflicting classifications of pathogenicity
Select item 662712	NM_006493.4(CLN5):c.1048A>G (p.Ile350Val)	CLN5 (I350V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 661954	NM_006493.4(CLN5):c.430T>C (p.Cys144Arg)	CLN5 (C144R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 643941	NM_006493.4(CLN5):c.176G>A (p.Arg59His)	CLN5 (R59H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 638521	NM_006493.4(CLN5):c.208T>C (p.Cys70Arg)	CLN5 (C70R)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D +1 more	GConflicting classifications of pathogenicity
Select item 635299	NM_006493.4(CLN5):c.594_597del (p.Lys197_Trp198insTer)	CLN5	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 634488	NM_006493.4(CLN5):c.398T>G (p.Met133Arg)	CLN5 (M133R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5 +1 more	GUncertain significance
Select item 623394	NM_006493.4(CLN5):c.431G>A (p.Cys144Tyr)	CLN5 (C144Y)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5	GPathogenic
Select item 580580	NM_006493.4(CLN5):c.935T>C (p.Phe312Ser)	CLN5 (F312S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 577247	NM_006493.4(CLN5):c.-113G>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 573164	NC_000013.11:g.76991976C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 566238	NM_006493.4(CLN5):c.490G>T (p.Ala164Ser)	CLN5 (A164S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 558707	NM_006493.4(CLN5):c.665_672dup (p.Trp225fs)	CLN5 (W225fs)	Duplication (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 558491	NM_006493.4(CLN5):c.191del (p.Pro64fs)	CLN5 (P64fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 558456	NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer)	CLN5	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 558374	NM_006493.4(CLN5):c.705_706del (p.Leu236fs)	CLN5 (L236fs)	Microsatellite (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 558089	NM_006493.4(CLN5):c.438del (p.His148fs)	CLN5 (H148fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 557487	NM_006493.4(CLN5):c.1048_1051dup (p.Arg351fs)	CLN5 (R351fs)	Duplication (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 556757	NM_006493.4(CLN5):c.906del (p.Glu303fs)	CLN5 (E303fs)	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 556473	NM_006493.4(CLN5):c.119del (p.Gly40fs)	CLN5, LOC130009913 (G40fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 556290	NM_006493.4(CLN5):c.33_50dup (p.Glu12_Ala17dup)	CLN5, LOC130009913	Duplication (inframe_insertion)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 555601	NM_006493.4(CLN5):c.838_841del (p.Gly280fs)	CLN5 (G280fs)	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5 +1 more	GPathogenic/Likely pathogenic
Select item 555423	NM_006493.4(CLN5):c.565+2dup	CLN5	Duplication (splice donor variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 554902	NC_000013.11:g.76991952A>C	CLN5	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5 +2 more	GConflicting classifications of pathogenicity
Select item 554629	NM_006493.4(CLN5):c.565+1G>A	CLN5	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 553559	NM_006493.4(CLN5):c.553_561del (p.Ala185_Ile187del)	CLN5	Deletion (inframe_deletion)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 553399	NM_006493.4(CLN5):c.77G>A (p.Trp26Ter)	CLN5, LOC130009913 (W26*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 5	GPathogenic

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