ClinVar for MedGen (Select 406281) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26276171.	NM_000391.4(TPP1):c.1450dup (p.Ile484fs) GRCh37: Chr11:6636197-6636198 GRCh38: Chr11:6614966-6614967	TPP1	I484fs	Neuronal ceroid lipofuscinosis 2	Pathogenic	criteria provided, single submitter
Select item 26276162.	NM_000391.4(TPP1):c.182_184delinsC (p.Leu61fs) GRCh37: Chr11:6640052-6640054 GRCh38: Chr11:6618821-6618823	TPP1	L61fs	Neuronal ceroid lipofuscinosis 2	Pathogenic	criteria provided, single submitter
Select item 26276153.	NM_000391.4(TPP1):c.1266_1266+1delinsTACAAACAAACA GRCh37: Chr11:6636672-6636673 GRCh38: Chr11:6615441-6615442	TPP1		Neuronal ceroid lipofuscinosis 2	Pathogenic	criteria provided, single submitter
Select item 25848784.	NM_000391.4(TPP1):c.1679T>C (p.Leu560Pro) GRCh37: Chr11:6635790 GRCh38: Chr11:6614559	TPP1	L560P	Neuronal ceroid lipofuscinosis 2	Uncertain significance	criteria provided, single submitter
Select item 25009205.	NM_000391.4(TPP1):c.230-2A>G GRCh37: Chr11:6639009 GRCh38: Chr11:6617778	TPP1		Neuronal ceroid lipofuscinosis 2	Likely pathogenic (May 2, 2023)	criteria provided, single submitter
Select item 18050126.	NM_000391.4(TPP1):c.1012C>G (p.Gln338Glu) GRCh37: Chr11:6637609 GRCh38: Chr11:6616378	TPP1	Q338E	Neuronal ceroid lipofuscinosis 2	Pathogenic (Jun 24, 2022)	criteria provided, single submitter
Select item 17269827.	NM_000391.4(TPP1):c.1104dup (p.Ser369fs) GRCh37: Chr11:6637276-6637277 GRCh38: Chr11:6616045-6616046	TPP1	S369fs	Neuronal ceroid lipofuscinosis 2	Likely pathogenic (Jan 6, 2022)	criteria provided, single submitter
Select item 17266498.	NM_000391.4(TPP1):c.876C>A (p.Tyr292Ter) GRCh37: Chr11:6637902 GRCh38: Chr11:6616671	TPP1	Y292*	Neuronal ceroid lipofuscinosis 2	Likely pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 17266409.	NM_000391.4(TPP1):c.760C>T (p.Gln254Ter) GRCh37: Chr11:6638018 GRCh38: Chr11:6616787	TPP1	Q254*	Neuronal ceroid lipofuscinosis 2	Likely pathogenic (Feb 19, 2022)	criteria provided, single submitter
Select item 172662910.	NM_000391.4(TPP1):c.767C>A (p.Ser256Ter) GRCh37: Chr11:6638011 GRCh38: Chr11:6616780	TPP1	S256*	Neuronal ceroid lipofuscinosis 2	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172662511.	NM_000391.4(TPP1):c.638C>A (p.Ser213Ter) GRCh37: Chr11:6638255 GRCh38: Chr11:6617024	TPP1	S213*	Neuronal ceroid lipofuscinosis 2	Likely pathogenic (Dec 29, 2021)	criteria provided, single submitter
Select item 172642412.	NM_000391.4(TPP1):c.636_638delinsA (p.Ser213fs) GRCh37: Chr11:6638255-6638257 GRCh38: Chr11:6617024-6617026	TPP1	S213fs	Neuronal ceroid lipofuscinosis 2	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172610613.	NM_000391.4(TPP1):c.238dup (p.Leu80fs) GRCh37: Chr11:6638998-6638999 GRCh38: Chr11:6617767-6617768	TPP1	L80fs	Neuronal ceroid lipofuscinosis 2	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172537514.	NM_000391.4(TPP1):c.904G>T (p.Glu302Ter) GRCh37: Chr11:6637717 GRCh38: Chr11:6616486	TPP1	E302*	Neuronal ceroid lipofuscinosis 2	Likely pathogenic (Mar 17, 2022)	criteria provided, single submitter
Select item 172536115.	NM_000391.4(TPP1):c.1176_1177del (p.Phe393fs) GRCh37: Chr11:6636762-6636763 GRCh38: Chr11:6615531-6615532	TPP1	F393fs	Neuronal ceroid lipofuscinosis 2	Likely pathogenic (Mar 17, 2022)	criteria provided, single submitter
Select item 172518716.	NM_000391.4(TPP1):c.1199_1200del (p.Thr400fs) GRCh37: Chr11:6636739-6636740 GRCh38: Chr11:6615508-6615509	TPP1	T400fs	Neuronal ceroid lipofuscinosis 2	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 172496417.	NM_000391.4(TPP1):c.262_270delinsAT (p.Leu88fs) GRCh37: Chr11:6638967-6638975 GRCh38: Chr11:6617736-6617744	TPP1	L88fs	Neuronal ceroid lipofuscinosis 2	Likely pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 172495818.	NM_000391.4(TPP1):c.1020_1021del (p.Asn341fs) GRCh37: Chr11:6637600-6637601 GRCh38: Chr11:6616369-6616370	TPP1	N341fs	Neuronal ceroid lipofuscinosis 2	Likely pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 172457719.	NM_000391.4(TPP1):c.147del (p.Thr50fs) GRCh37: Chr11:6640089 GRCh38: Chr11:6618858	TPP1	T50fs	Neuronal ceroid lipofuscinosis 2	Likely pathogenic (Feb 20, 2022)	criteria provided, single submitter
Select item 172456320.	NM_000391.4(TPP1):c.1248_1250delinsT (p.Pro417fs) GRCh37: Chr11:6636689-6636691 GRCh38: Chr11:6615458-6615460	TPP1	P417fs	Neuronal ceroid lipofuscinosis 2	Likely pathogenic (Feb 19, 2022)	criteria provided, single submitter
Select item 172413421.	NM_000391.4(TPP1):c.1213_1214delinsT (p.Asp405fs) GRCh37: Chr11:6636725-6636726 GRCh38: Chr11:6615494-6615495	TPP1	D405fs	Neuronal ceroid lipofuscinosis 2	Likely pathogenic (Jan 27, 2022)	criteria provided, single submitter
Select item 170814922.	NM_000391.4(TPP1):c.1012C>T (p.Gln338Ter) GRCh37: Chr11:6637609 GRCh38: Chr11:6616378	TPP1	Q338*	Neuronal ceroid lipofuscinosis 2	Likely pathogenic (Apr 20, 2022)	criteria provided, single submitter
Select item 170566923.	NM_000391.4(TPP1):c.1168G>C (p.Gly390Arg) GRCh37: Chr11:6636771 GRCh38: Chr11:6615540	TPP1	G390R	Neuronal ceroid lipofuscinosis 2	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 170180524.	NM_000391.4(TPP1):c.130G>T (p.Glu44Ter) GRCh37: Chr11:6640106 GRCh38: Chr11:6618875	TPP1	E44*	Neuronal ceroid lipofuscinosis 2	Pathogenic (Jun 9, 2022)	criteria provided, single submitter
Select item 168627125.	NM_000391.4(TPP1):c.899del (p.Gly300fs) GRCh37: Chr11:6637722 GRCh38: Chr11:6616491	TPP1	G300fs	Neuronal ceroid lipofuscinosis 2	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 167514426.	NM_000391.4(TPP1):c.1243G>A (p.Val415Met) GRCh37: Chr11:6636696 GRCh38: Chr11:6615465	TPP1	V415M	Autosomal recessive spinocerebellar ataxia 7, Neuronal ceroid lipofuscinosis 2	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 142556627.	NM_000391.4(TPP1):c.509-6C>G GRCh37: Chr11:6638390 GRCh38: Chr11:6617159	TPP1		Autosomal recessive spinocerebellar ataxia 7, Neuronal ceroid lipofuscinosis 2, not provided	Uncertain significance (Apr 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142432528.	NM_000391.4(TPP1):c.1279A>T (p.Thr427Ser) GRCh37: Chr11:6636548 GRCh38: Chr11:6615317	TPP1	T427S	Autosomal recessive spinocerebellar ataxia 7, Neuronal ceroid lipofuscinosis 2, not provided	Uncertain significance (May 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142352929.	NM_000391.4(TPP1):c.1145G>A (p.Ser382Asn) GRCh37: Chr11:6637236 GRCh38: Chr11:6616005	TPP1	S382N	Autosomal recessive spinocerebellar ataxia 7, Neuronal ceroid lipofuscinosis 2, not provided	Uncertain significance (Jun 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132522130.	NM_000391.4(TPP1):c.1016G>T (p.Arg339Leu) GRCh37: Chr11:6637605 GRCh38: Chr11:6616374	TPP1	R339L	not provided, Neuronal ceroid lipofuscinosis 2	Conflicting interpretations of pathogenicity (Jul 22, 2019)	criteria provided, conflicting interpretations
Select item 118059331.	NM_000391.4(TPP1):c.1426-78T>C GRCh37: Chr11:6636300 GRCh38: Chr11:6615069	TPP1		Autosomal recessive spinocerebellar ataxia 7, not provided, Neuronal ceroid lipofuscinosis 2	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 107389732.	NM_000391.4(TPP1):c.1626G>A (p.Trp542Ter) GRCh37: Chr11:6635843 GRCh38: Chr11:6614612	TPP1	W542*	Neuronal ceroid lipofuscinosis 2, not provided	Pathogenic (Jan 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 106545033.	NM_000391.4(TPP1):c.987_989del (p.Glu329del) GRCh37: Chr11:6637632-6637634 GRCh38: Chr11:6616401-6616403	TPP1	E329del	Neuronal ceroid lipofuscinosis 2	Pathogenic (Jan 30, 2020)	criteria provided, single submitter
Select item 105617934.	NM_000391.4(TPP1):c.968T>C (p.Val323Ala) GRCh37: Chr11:6637653 GRCh38: Chr11:6616422	TPP1	V323A	not provided	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 105121135.	NM_000391.4(TPP1):c.1495C>A (p.Pro499Thr) GRCh37: Chr11:6636153 GRCh38: Chr11:6614922	TPP1	P499T	not provided	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104749636.	NM_000391.4(TPP1):c.898G>A (p.Gly300Arg) GRCh37: Chr11:6637723 GRCh38: Chr11:6616492	TPP1	G300R	not provided	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 103732937.	NM_000391.4(TPP1):c.1381G>T (p.Val461Leu) GRCh37: Chr11:6636446 GRCh38: Chr11:6615215	TPP1	V461L	not provided	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 101656838.	NM_000391.4(TPP1):c.886+5del GRCh37: Chr11:6637887 GRCh38: Chr11:6616656	TPP1		not provided	Uncertain significance (Jan 7, 2022)	criteria provided, single submitter
Select item 101144239.	NM_000391.4(TPP1):c.593T>C (p.Leu198Pro) GRCh37: Chr11:6638300 GRCh38: Chr11:6617069	TPP1	L198P	not provided	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 100727340.	NM_000391.4(TPP1):c.79C>G (p.Gln27Glu) GRCh37: Chr11:6640437 GRCh38: Chr11:6619206	TPP1	Q27E	not provided	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 100556741.	NM_000391.4(TPP1):c.802C>T (p.Arg268Trp) GRCh37: Chr11:6637976 GRCh38: Chr11:6616745	TPP1	R268W	not provided	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 100236942.	NM_000391.4(TPP1):c.76G>A (p.Asp26Asn) GRCh37: Chr11:6640440 GRCh38: Chr11:6619209	TPP1	D26N	not provided	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 100170043.	NM_000391.4(TPP1):c.88A>G (p.Thr30Ala) GRCh37: Chr11:6640428 GRCh38: Chr11:6619197	TPP1	T30A	not provided	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 100027844.	NM_000391.4(TPP1):c.992C>A (p.Ser331Tyr) GRCh37: Chr11:6637629 GRCh38: Chr11:6616398	TPP1	S331Y	not provided	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 99903945.	NM_000391.4(TPP1):c.803G>A (p.Arg268Gln) GRCh37: Chr11:6637975 GRCh38: Chr11:6616744	TPP1	R268Q	not provided	Uncertain significance (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99696846.	NM_000391.4(TPP1):c.751T>C (p.Phe251Leu) GRCh37: Chr11:6638027 GRCh38: Chr11:6616796	TPP1	F251L	not provided, Neuronal ceroid lipofuscinosis 2	Uncertain significance (Oct 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 99603147.	NM_000391.4(TPP1):c.688-1G>T GRCh37: Chr11:6638091 GRCh38: Chr11:6616860	TPP1		Neuronal ceroid lipofuscinosis 2	Pathogenic (Feb 4, 2020)	criteria provided, single submitter
Select item 99603048.	NM_000391.4(TPP1):c.1340G>C (p.Arg447Pro) GRCh37: Chr11:6636487 GRCh38: Chr11:6615256	TPP1	R447P	Neuronal ceroid lipofuscinosis 2	Likely pathogenic (Feb 4, 2020)	criteria provided, single submitter
Select item 99050649.	NM_000391.4(TPP1):c.18-7C>T GRCh37: Chr11:6640505 GRCh38: Chr11:6619274	TPP1		Neuronal ceroid lipofuscinosis 2	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 99050550.	NM_000391.4(TPP1):c.18-5T>C GRCh37: Chr11:6640503 GRCh38: Chr11:6619272	TPP1		Neuronal ceroid lipofuscinosis 2	Uncertain significance (Aug 17, 2020)	no assertion criteria provided
Select item 99050451.	NM_000391.4(TPP1):c.35C>T (p.Ala12Val) GRCh37: Chr11:6640481 GRCh38: Chr11:6619250	TPP1	A12V	Neuronal ceroid lipofuscinosis 2	Uncertain significance (Apr 14, 2020)	no assertion criteria provided
Select item 99050352.	NM_000391.4(TPP1):c.51C>G (p.Gly17=) GRCh37: Chr11:6640465 GRCh38: Chr11:6619234	TPP1		not provided	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 99050253.	NM_000391.4(TPP1):c.508+10A>G GRCh37: Chr11:6638522 GRCh38: Chr11:6617291	TPP1		not provided	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 99050154.	NM_000391.4(TPP1):c.514G>A (p.Gly172Arg) GRCh37: Chr11:6638379 GRCh38: Chr11:6617148	TPP1	G172R	Neuronal ceroid lipofuscinosis 2	Uncertain significance (Apr 14, 2020)	no assertion criteria provided
Select item 99050055.	NM_000391.4(TPP1):c.807C>T (p.Ala269=) GRCh37: Chr11:6637971 GRCh38: Chr11:6616740	TPP1		not provided	Likely benign (Sep 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99049956.	NM_000391.4(TPP1):c.1090G>A (p.Gly364Arg) GRCh37: Chr11:6637291 GRCh38: Chr11:6616060	TPP1	G364R	not provided	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 99049857.	NM_000391.4(TPP1):c.1434T>C (p.Thr478=) GRCh37: Chr11:6636214 GRCh38: Chr11:6614983	TPP1		not provided	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 99049758.	NM_000391.4(TPP1):c.1570G>A (p.Glu524Lys) GRCh37: Chr11:6635899 GRCh38: Chr11:6614668	TPP1	E524K	Neuronal ceroid lipofuscinosis 2	Uncertain significance (Apr 14, 2020)	no assertion criteria provided
Select item 98272759.	NM_000391.4(TPP1):c.843G>A (p.Met281Ile) GRCh37: Chr11:6637935 GRCh38: Chr11:6616704	TPP1	M281I	Neuronal ceroid lipofuscinosis 2	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 97457460.	NM_000391.4(TPP1):c.533del (p.Pro178fs) GRCh37: Chr11:6638360 GRCh38: Chr11:6617129	TPP1	P178fs	Neuronal ceroid lipofuscinosis 2	Likely pathogenic (Oct 16, 2018)	criteria provided, single submitter
Select item 97237961.	NM_000391.4(TPP1):c.1075+5C>T GRCh37: Chr11:6637541 GRCh38: Chr11:6616310	TPP1		not provided	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 97222262.	NM_000391.4(TPP1):c.1443T>G (p.Phe481Leu) GRCh37: Chr11:6636205 GRCh38: Chr11:6614974	TPP1	F481L	not provided	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 96989563.	NM_000391.4(TPP1):c.965C>T (p.Thr322Ile) GRCh37: Chr11:6637656 GRCh38: Chr11:6616425	TPP1	T322I	not provided	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 96805564.	NM_000391.4(TPP1):c.889C>T (p.Arg297Trp) GRCh37: Chr11:6637732 GRCh38: Chr11:6616501	TPP1	R297W	not provided, Neuronal ceroid lipofuscinosis 2	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 96672365.	NM_000391.4(TPP1):c.11A>T (p.Gln4Leu) GRCh37: Chr11:6640621 GRCh38: Chr11:6619390	TPP1	Q4L	not provided	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 96666766.	NM_000391.4(TPP1):c.230-8C>A GRCh37: Chr11:6639015 GRCh38: Chr11:6617784	TPP1		not provided	Likely benign (Oct 15, 2022)	criteria provided, single submitter
Select item 96539967.	NM_000391.4(TPP1):c.1075+2T>C GRCh37: Chr11:6637544 GRCh38: Chr11:6616313	TPP1		not provided	Pathogenic (Aug 15, 2022)	criteria provided, single submitter
Select item 95481868.	NM_000391.4(TPP1):c.1034T>C (p.Met345Thr) GRCh37: Chr11:6637587 GRCh38: Chr11:6616356	TPP1	M345T	not provided	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 95361169.	NM_000391.4(TPP1):c.90-3C>T GRCh37: Chr11:6640149 GRCh38: Chr11:6618918	TPP1		not provided	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 95330070.	NM_000391.4(TPP1):c.770T>C (p.Val257Ala) GRCh37: Chr11:6638008 GRCh38: Chr11:6616777	TPP1	V257A	not provided	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 95290771.	NM_000391.4(TPP1):c.509-8C>A GRCh37: Chr11:6638392 GRCh38: Chr11:6617161	TPP1		not provided	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 94967672.	NM_000391.4(TPP1):c.1266+4C>T GRCh37: Chr11:6636669 GRCh38: Chr11:6615438	TPP1		not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 94853873.	NM_000391.4(TPP1):c.294G>A (p.Thr98=) GRCh37: Chr11:6638943 GRCh38: Chr11:6617712	TPP1		not provided	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 94673674.	NM_000391.4(TPP1):c.1663G>A (p.Ala555Thr) GRCh37: Chr11:6635806 GRCh38: Chr11:6614575	TPP1	A555T	not provided	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 94656775.	NM_000391.4(TPP1):c.1003G>A (p.Ala335Thr) GRCh37: Chr11:6637618 GRCh38: Chr11:6616387	TPP1	A335T	not provided, Inborn genetic diseases	Uncertain significance (Feb 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93916776.	NM_000391.4(TPP1):c.535A>T (p.Thr179Ser) GRCh37: Chr11:6638358 GRCh38: Chr11:6617127	TPP1	T179S	not provided	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 87999577.	NM_000391.4(TPP1):c.*1478T>A GRCh37: Chr11:6634299 GRCh38: Chr11:6613068	TPP1		Neuronal ceroid lipofuscinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87999478.	NM_000391.4(TPP1):c.*1508G>A GRCh37: Chr11:6634269 GRCh38: Chr11:6613038	TPP1		Neuronal ceroid lipofuscinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87999379.	NM_000391.4(TPP1):c.*1540T>C GRCh37: Chr11:6634237 GRCh38: Chr11:6613006	TPP1		Neuronal ceroid lipofuscinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87999280.	NM_000391.4(TPP1):c.*1560C>T GRCh37: Chr11:6634217 GRCh38: Chr11:6612986	TPP1		Neuronal ceroid lipofuscinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87969081.	NM_000391.4(TPP1):c.1552-14A>C GRCh37: Chr11:6635931 GRCh38: Chr11:6614700	TPP1		not provided, Neuronal ceroid lipofuscinosis 2	Conflicting interpretations of pathogenicity (Nov 1, 2021)	criteria provided, conflicting interpretations
Select item 87968982.	NM_000391.4(TPP1):c.*124C>T GRCh37: Chr11:6635653 GRCh38: Chr11:6614422	TPP1		Neuronal ceroid lipofuscinosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87968883.	NM_000391.4(TPP1):c.*171T>C GRCh37: Chr11:6635606 GRCh38: Chr11:6614375	TPP1		Neuronal ceroid lipofuscinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87968784.	NM_000391.4(TPP1):c.*223T>C GRCh37: Chr11:6635554 GRCh38: Chr11:6614323	TPP1		Neuronal ceroid lipofuscinosis 2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87962985.	NM_000391.4(TPP1):c.*1741G>T GRCh37: Chr11:6634036 GRCh38: Chr11:6612805	TPP1		Neuronal ceroid lipofuscinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87823986.	NM_000391.4(TPP1):c.*346A>G GRCh37: Chr11:6635431 GRCh38: Chr11:6614200	TPP1		Neuronal ceroid lipofuscinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87823887.	NM_000391.4(TPP1):c.*704C>T GRCh37: Chr11:6635073 GRCh38: Chr11:6613842	TPP1		Neuronal ceroid lipofuscinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87823788.	NM_000391.4(TPP1):c.*716C>A GRCh37: Chr11:6635061 GRCh38: Chr11:6613830	TPP1		Neuronal ceroid lipofuscinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87823689.	NM_000391.4(TPP1):c.*829C>T GRCh37: Chr11:6634948 GRCh38: Chr11:6613717	TPP1		Neuronal ceroid lipofuscinosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87823590.	NM_000391.4(TPP1):c.*937C>T GRCh37: Chr11:6634840 GRCh38: Chr11:6613609	TPP1		Neuronal ceroid lipofuscinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87823491.	NM_000391.4(TPP1):c.*984T>A GRCh37: Chr11:6634793 GRCh38: Chr11:6613562	TPP1		Neuronal ceroid lipofuscinosis 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87757192.	NM_000391.4(TPP1):c.*241T>C GRCh37: Chr11:6635536 GRCh38: Chr11:6614305	TPP1		Neuronal ceroid lipofuscinosis 2	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 87726593.	NM_000391.4(TPP1):c.993C>T (p.Ser331=) GRCh37: Chr11:6637628 GRCh38: Chr11:6616397	TPP1		Neuronal ceroid lipofuscinosis 2, not provided	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 87719894.	NM_000391.4(TPP1):c.*1108T>C GRCh37: Chr11:6634669 GRCh38: Chr11:6613438	TPP1		Neuronal ceroid lipofuscinosis 2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87719795.	NM_000391.4(TPP1):c.*1250T>A GRCh37: Chr11:6634527 GRCh38: Chr11:6613296	TPP1		Neuronal ceroid lipofuscinosis 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87719696.	NM_000391.4(TPP1):c.*1282C>A GRCh37: Chr11:6634495 GRCh38: Chr11:6613264	TPP1		Neuronal ceroid lipofuscinosis 2	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 86149597.	NM_000391.4(TPP1):c.323C>T (p.Ala108Val) GRCh37: Chr11:6638914 GRCh38: Chr11:6617683	TPP1	A108V	not provided	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 85961398.	NM_000391.4(TPP1):c.481C>T (p.Gln161Ter) GRCh37: Chr11:6638559 GRCh38: Chr11:6617328	TPP1	Q161*	not provided, Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7, Neuronal ceroid lipofuscinosis	Pathogenic/Likely pathogenic (Jul 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85665199.	NM_000391.4(TPP1):c.1069G>C (p.Ala357Pro) GRCh37: Chr11:6637552 GRCh38: Chr11:6616321	TPP1	A357P	not provided	Uncertain significance (Oct 9, 2021)	criteria provided, single submitter
Select item 850961100.	NM_000391.4(TPP1):c.249G>T (p.Glu83Asp) GRCh37: Chr11:6638988 GRCh38: Chr11:6617757	TPP1	E83D	not provided	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts

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