ClinVar for MedGen (Select 383137) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25013001.	NM_007375.4(TARDBP):c.1133A>G (p.Asn378Ser) GRCh37: Chr1:11082599 GRCh38: Chr1:11022542	TARDBP	N378S	Amyotrophic lateral sclerosis type 10	Likely pathogenic	criteria provided, single submitter
Select item 22027002.	NM_007375.4(TARDBP):c.1178C>T (p.Ser393Leu) GRCh37: Chr1:11082644 GRCh38: Chr1:11022587	TARDBP	S393L	Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Uncertain significance (Apr 26, 2022)	criteria provided, single submitter
Select item 22026993.	NM_007375.4(TARDBP):c.1123A>G (p.Ser375Gly) GRCh37: Chr1:11082589 GRCh38: Chr1:11022532	TARDBP	S375G	Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 22009634.	NM_007375.4(TARDBP):c.930G>A (p.Gly310=) GRCh37: Chr1:11082396 GRCh38: Chr1:11022339	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 21615955.	NM_007375.4(TARDBP):c.1129T>A (p.Ser377Thr) GRCh37: Chr1:11082595 GRCh38: Chr1:11022538	TARDBP	S377T	Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 21597966.	NM_007375.4(TARDBP):c.543+20G>T GRCh37: Chr1:11078950 GRCh38: Chr1:11018893	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (Apr 5, 2022)	criteria provided, single submitter
Select item 21532717.	NM_007375.4(TARDBP):c.238+16G>T GRCh37: Chr1:11074038 GRCh38: Chr1:11013981	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 21497008.	NM_007375.4(TARDBP):c.403-14A>G GRCh37: Chr1:11078776 GRCh38: Chr1:11018719	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 21176489.	NM_007375.4(TARDBP):c.636T>G (p.Ser212=) GRCh37: Chr1:11080578 GRCh38: Chr1:11020521	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211378810.	NM_007375.4(TARDBP):c.609T>G (p.Thr203=) GRCh37: Chr1:11080551 GRCh38: Chr1:11020494	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 209356411.	NM_007375.4(TARDBP):c.714+18G>A GRCh37: Chr1:11080674 GRCh38: Chr1:11020617	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 208540912.	NM_007375.4(TARDBP):c.1173A>G (p.Ala391=) GRCh37: Chr1:11082639 GRCh38: Chr1:11022582	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 208200213.	NM_007375.4(TARDBP):c.1157G>A (p.Gly386Glu) GRCh37: Chr1:11082623 GRCh38: Chr1:11022566	TARDBP	G386E	Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Uncertain significance (Jan 20, 2022)	criteria provided, single submitter
Select item 207649314.	NM_007375.4(TARDBP):c.715-18A>G GRCh37: Chr1:11082163 GRCh38: Chr1:11022106	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 207316015.	NM_007375.4(TARDBP):c.941G>C (p.Gly314Ala) GRCh37: Chr1:11082407 GRCh38: Chr1:11022350	TARDBP	G314A	TARDBP-related frontotemporal dementia, Amyotrophic lateral sclerosis type 10	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 206198916.	NM_007375.4(TARDBP):c.587G>A (p.Gly196Glu) GRCh37: Chr1:11080529 GRCh38: Chr1:11020472	TARDBP	G196E	Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 204536517.	NM_007375.4(TARDBP):c.239-12C>T GRCh37: Chr1:11076889 GRCh38: Chr1:11016832	TARDBP		TARDBP-related frontotemporal dementia, Amyotrophic lateral sclerosis type 10	Likely benign (Nov 30, 2021)	criteria provided, single submitter
Select item 202579418.	NM_007375.4(TARDBP):c.1167_1172dup (p.Ala391_Gly392insAsnAla) GRCh37: Chr1:11082631-11082632 GRCh38: Chr1:11022574-11022575	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 200738619.	NM_007375.4(TARDBP):c.1131dup (p.Asn378Ter) GRCh37: Chr1:11082596-11082597 GRCh38: Chr1:11022539-11022540	TARDBP	N378*	TARDBP-related frontotemporal dementia, Amyotrophic lateral sclerosis type 10	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 199812820.	NM_007375.4(TARDBP):c.495A>G (p.Arg165=) GRCh37: Chr1:11078882 GRCh38: Chr1:11018825	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (May 23, 2022)	criteria provided, single submitter
Select item 198067621.	NM_007375.4(TARDBP):c.1054A>G (p.Asn352Asp) GRCh37: Chr1:11082520 GRCh38: Chr1:11022463	TARDBP	N352D	Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 196327622.	NM_007375.4(TARDBP):c.312C>T (p.Ser104=) GRCh37: Chr1:11076974 GRCh38: Chr1:11016917	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (Feb 7, 2022)	criteria provided, single submitter
Select item 195866323.	NM_007375.4(TARDBP):c.976G>A (p.Ala326Thr) GRCh37: Chr1:11082442 GRCh38: Chr1:11022385	TARDBP	A326T	Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Uncertain significance (Nov 2, 2022)	criteria provided, single submitter
Select item 195190624.	NM_007375.4(TARDBP):c.944C>T (p.Ala315Val) GRCh37: Chr1:11082410 GRCh38: Chr1:11022353	TARDBP	A315V	Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 193232925.	NM_007375.4(TARDBP):c.939T>C (p.Phe313=) GRCh37: Chr1:11082405 GRCh38: Chr1:11022348	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 193157026.	NM_007375.4(TARDBP):c.465T>C (p.Tyr155=) GRCh37: Chr1:11078852 GRCh38: Chr1:11018795	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 191104227.	NM_007375.4(TARDBP):c.1051G>A (p.Gly351Ser) GRCh37: Chr1:11082517 GRCh38: Chr1:11022460	TARDBP	G351S	Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 180694428.	NM_007375.4(TARDBP):c.883G>C (p.Gly295Arg) GRCh37: Chr1:11082349 GRCh38: Chr1:11022292	TARDBP	G295R	not provided, Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Conflicting interpretations of pathogenicity (Mar 5, 2022)	criteria provided, conflicting interpretations
Select item 180169029.	NM_001008212.2(OPTN):c.493C>T (p.Gln165Ter) GRCh37: Chr10:13154576 GRCh38: Chr10:13112576	OPTN	Q165*	Glaucoma 1, open angle, E, Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma, Amyotrophic lateral sclerosis type 10	Pathogenic/Likely pathogenic (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180168930.	NM_006000.3(TUBA4A):c.648C>A (p.Asn216Lys) GRCh37: Chr2:220115773 GRCh38: Chr2:219251051	TUBA4A	N201K, N216K	Amyotrophic lateral sclerosis type 10	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 180168831.	NM_006262.4(PRPH):c.1235A>C (p.His412Pro) GRCh37: Chr12:49691477 GRCh38: Chr12:49297694	TROAP-AS1, LOC124629354, PRPH	H412P	Amyotrophic lateral sclerosis type 10	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 180168732.	NM_005235.3(ERBB4):c.3494C>G (p.Pro1165Arg) GRCh37: Chr2:212248773 GRCh38: Chr2:211384048	ERBB4	P1149R, P1165R	Amyotrophic lateral sclerosis type 10	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 176127133.	NM_007375.4(TARDBP):c.792C>T (p.His264=) GRCh37: Chr1:11082258 GRCh38: Chr1:11022201	TARDBP		Inborn genetic diseases, TARDBP-related frontotemporal dementia, Amyotrophic lateral sclerosis type 10	Benign/Likely benign (Oct 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 176044234.	NM_007375.4(TARDBP):c.774C>G (p.Ser258=) GRCh37: Chr1:11082240 GRCh38: Chr1:11022183	TARDBP		Inborn genetic diseases, TARDBP-related frontotemporal dementia, Amyotrophic lateral sclerosis type 10	Likely benign (Jan 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175090835.	NM_007375.4(TARDBP):c.1213A>G (p.Met405Val) GRCh37: Chr1:11082679 GRCh38: Chr1:11022622	TARDBP	M405V	Inborn genetic diseases, Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Uncertain significance (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173321036.	NM_007375.4(TARDBP):c.360G>A (p.Leu120=) GRCh37: Chr1:11077022 GRCh38: Chr1:11016965	TARDBP		Inborn genetic diseases, Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (May 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171335637.	NM_007375.4(TARDBP):c.946T>C (p.Phe316Leu) GRCh37: Chr1:11082412 GRCh38: Chr1:11022355	TARDBP	F316L	Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 164396938.	NM_007375.4(TARDBP):c.714+17C>T GRCh37: Chr1:11080673 GRCh38: Chr1:11020616	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 164100439.	NM_007375.4(TARDBP):c.402+19A>G GRCh37: Chr1:11077083 GRCh38: Chr1:11017026	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (Sep 29, 2021)	criteria provided, single submitter
Select item 163248240.	NM_007375.4(TARDBP):c.900A>G (p.Gly300=) GRCh37: Chr1:11082366 GRCh38: Chr1:11022309	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 163170441.	NM_007375.4(TARDBP):c.543+9G>A GRCh37: Chr1:11078939 GRCh38: Chr1:11018882	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 163056242.	NM_007375.4(TARDBP):c.162C>T (p.Val54=) GRCh37: Chr1:11073946 GRCh38: Chr1:11013889	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia, Inborn genetic diseases	Likely benign (Apr 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 161273043.	NM_007375.4(TARDBP):c.239-11G>A GRCh37: Chr1:11076890 GRCh38: Chr1:11016833	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (Sep 30, 2021)	criteria provided, single submitter
Select item 159706544.	NM_007375.4(TARDBP):c.543+15G>A GRCh37: Chr1:11078945 GRCh38: Chr1:11018888	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 159486545.	NM_007375.4(TARDBP):c.330T>G (p.Gly110=) GRCh37: Chr1:11076992 GRCh38: Chr1:11016935	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia, Inborn genetic diseases	Likely benign (Jun 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157168046.	NM_007375.4(TARDBP):c.403-5T>C GRCh37: Chr1:11078785 GRCh38: Chr1:11018728	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (Apr 21, 2021)	criteria provided, single submitter
Select item 156507547.	NM_007375.4(TARDBP):c.622C>A (p.Arg208=) GRCh37: Chr1:11080564 GRCh38: Chr1:11020507	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (Dec 3, 2021)	criteria provided, single submitter
Select item 153477048.	NM_007375.4(TARDBP):c.544-17C>T GRCh37: Chr1:11080469 GRCh38: Chr1:11020412	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 153217149.	NM_007375.4(TARDBP):c.189C>T (p.Ala63=) GRCh37: Chr1:11073973 GRCh38: Chr1:11013916	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (Dec 3, 2021)	criteria provided, single submitter
Select item 150813150.	NM_007375.4(TARDBP):c.1155G>A (p.Trp385Ter) GRCh37: Chr1:11082621 GRCh38: Chr1:11022564	TARDBP	W385*	TARDBP-related frontotemporal dementia, Amyotrophic lateral sclerosis type 10	Uncertain significance (Feb 6, 2021)	criteria provided, single submitter
Select item 144839551.	NM_007375.4(TARDBP):c.995G>A (p.Ser332Asn) GRCh37: Chr1:11082461 GRCh38: Chr1:11022404	TARDBP	S332N	Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Uncertain significance (Oct 19, 2021)	criteria provided, single submitter
Select item 144600852.	NM_007375.4(TARDBP):c.1069G>C (p.Gly357Arg) GRCh37: Chr1:11082535 GRCh38: Chr1:11022478	TARDBP	G357R	Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 143816553.	NM_007375.4(TARDBP):c.1056T>C (p.Asn352=) GRCh37: Chr1:11082522 GRCh38: Chr1:11022465	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (Dec 9, 2021)	criteria provided, single submitter
Select item 143815454.	NM_007375.4(TARDBP):c.1015A>G (p.Met339Val) GRCh37: Chr1:11082481 GRCh38: Chr1:11022424	TARDBP	M339V	Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 142425455.	NM_005235.3(ERBB4):c.1441A>G (p.Ile481Val) GRCh37: Chr2:212566740 GRCh38: Chr2:211702015	ERBB4	I481V	Amyotrophic lateral sclerosis type 10, not provided	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139210056.	NM_007375.4(TARDBP):c.1187G>A (p.Gly396Asp) GRCh37: Chr1:11082653 GRCh38: Chr1:11022596	TARDBP	G396D	TARDBP-related frontotemporal dementia, Amyotrophic lateral sclerosis type 10	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 139164857.	NM_007375.4(TARDBP):c.227A>G (p.Asn76Ser) GRCh37: Chr1:11074011 GRCh38: Chr1:11013954	TARDBP	N76S	TARDBP-related frontotemporal dementia, Amyotrophic lateral sclerosis type 10	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 130048958.	NM_007375.4(TARDBP):c.1169A>G (p.Asn390Ser) GRCh37: Chr1:11082635 GRCh38: Chr1:11022578	TARDBP	N390S	not provided, Inborn genetic diseases, Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Conflicting interpretations of pathogenicity (May 1, 2022)	criteria provided, conflicting interpretations
Select item 125619559.	NM_007375.4(TARDBP):c.1121A>T (p.Tyr374Phe) GRCh37: Chr1:11082587 GRCh38: Chr1:11022530	TARDBP	Y374F	not provided, Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Uncertain significance (Jun 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116536960.	NM_007375.4(TARDBP):c.-13+95C>T GRCh37: Chr1:11072895 GRCh38: Chr1:11012838	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Benign (Oct 25, 2022)	criteria provided, single submitter
Select item 113930761.	NM_007375.4(TARDBP):c.1101C>T (p.Phe367=) GRCh37: Chr1:11082567 GRCh38: Chr1:11022510	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (Sep 22, 2019)	criteria provided, single submitter
Select item 113874862.	NM_007375.4(TARDBP):c.699A>G (p.Thr233=) GRCh37: Chr1:11080641 GRCh38: Chr1:11020584	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 108925363.	NM_007375.4(TARDBP):c.544-6G>C GRCh37: Chr1:11080480 GRCh38: Chr1:11020423	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 103173664.	NM_007375.4(TARDBP):c.623G>A (p.Arg208Gln) GRCh37: Chr1:11080565 GRCh38: Chr1:11020508	TARDBP	R208Q	Amyotrophic lateral sclerosis type 10	Uncertain significance (May 16, 2018)	criteria provided, single submitter
Select item 96180165.	NM_007375.4(TARDBP):c.550C>A (p.Gln184Lys) GRCh37: Chr1:11080492 GRCh38: Chr1:11020435	TARDBP	Q184K	TARDBP-related frontotemporal dementia, Amyotrophic lateral sclerosis type 10	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 94198866.	NM_007375.4(TARDBP):c.208A>G (p.Asn70Asp) GRCh37: Chr1:11073992 GRCh38: Chr1:11013935	TARDBP	N70D	TARDBP-related frontotemporal dementia, Amyotrophic lateral sclerosis type 10	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 93915267.	NM_007375.4(TARDBP):c.1132A>G (p.Asn378Asp) GRCh37: Chr1:11082598 GRCh38: Chr1:11022541	TARDBP	N378D	TARDBP-related frontotemporal dementia, Amyotrophic lateral sclerosis type 10	Uncertain significance (Nov 5, 2021)	criteria provided, single submitter
Select item 93852768.	NM_007375.4(TARDBP):c.962C>A (p.Ala321Asp) GRCh37: Chr1:11082428 GRCh38: Chr1:11022371	TARDBP	A321D	TARDBP-related frontotemporal dementia, Amyotrophic lateral sclerosis type 10	Likely pathogenic (Jul 25, 2022)	criteria provided, single submitter
Select item 91620269.	NM_007375.4(TARDBP):c.411A>G (p.Lys137=) GRCh37: Chr1:11078798 GRCh38: Chr1:11018741	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia, not provided	Likely benign (Feb 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87668470.	NM_007375.4(TARDBP):c.*954A>G GRCh37: Chr1:11083665 GRCh38: Chr1:11023608	TARDBP		Amyotrophic lateral sclerosis type 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87664071.	NM_007375.4(TARDBP):c.717T>C (p.Ile239=) GRCh37: Chr1:11082183 GRCh38: Chr1:11022126	TARDBP		Amyotrophic lateral sclerosis type 10	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 87573872.	NM_007375.4(TARDBP):c.*2823T>C GRCh37: Chr1:11085534 GRCh38: Chr1:11025477	TARDBP		Amyotrophic lateral sclerosis type 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87569673.	NM_007375.4(TARDBP):c.*763G>A GRCh37: Chr1:11083474 GRCh38: Chr1:11023417	TARDBP		Amyotrophic lateral sclerosis type 10	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87569574.	NM_007375.4(TARDBP):c.*670T>C GRCh37: Chr1:11083381 GRCh38: Chr1:11023324	TARDBP		Amyotrophic lateral sclerosis type 10	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87569475.	NM_007375.4(TARDBP):c.*663C>T GRCh37: Chr1:11083374 GRCh38: Chr1:11023317	TARDBP		Amyotrophic lateral sclerosis type 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87569376.	NM_007375.4(TARDBP):c.*616G>C GRCh37: Chr1:11083327 GRCh38: Chr1:11023270	TARDBP		Amyotrophic lateral sclerosis type 10	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 87569277.	NM_007375.4(TARDBP):c.*591G>A GRCh37: Chr1:11083302 GRCh38: Chr1:11023245	TARDBP		Amyotrophic lateral sclerosis type 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87569178.	NM_007375.4(TARDBP):c.*560A>T GRCh37: Chr1:11083271 GRCh38: Chr1:11023214	TARDBP		Amyotrophic lateral sclerosis type 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87564279.	NM_007375.4(TARDBP):c.57A>G (p.Pro19=) GRCh37: Chr1:11073841 GRCh38: Chr1:11013784	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia, Amyotrophic lateral sclerosis type 10	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 87564180.	NM_007375.4(TARDBP):c.36C>T (p.Asn12=) GRCh37: Chr1:11073820 GRCh38: Chr1:11013763	TARDBP		Inborn genetic diseases, Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia, Amyotrophic lateral sclerosis type 10	Conflicting interpretations of pathogenicity (Apr 12, 2022)	criteria provided, conflicting interpretations
Select item 87480181.	NM_007375.4(TARDBP):c.*2749T>C GRCh37: Chr1:11085460 GRCh38: Chr1:11025403	TARDBP		Amyotrophic lateral sclerosis type 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87480082.	NM_007375.4(TARDBP):c.*2333C>T GRCh37: Chr1:11085044 GRCh38: Chr1:11024987	TARDBP		Amyotrophic lateral sclerosis type 10	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87479983.	NM_007375.4(TARDBP):c.*2260T>G GRCh37: Chr1:11084971 GRCh38: Chr1:11024914	TARDBP		Amyotrophic lateral sclerosis type 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87475784.	NM_007375.4(TARDBP):c.*556G>A GRCh37: Chr1:11083267 GRCh38: Chr1:11023210	TARDBP		Amyotrophic lateral sclerosis type 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87475685.	NM_007375.4(TARDBP):c.*551C>G GRCh37: Chr1:11083262 GRCh38: Chr1:11023205	TARDBP		Amyotrophic lateral sclerosis type 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87475586.	NM_007375.4(TARDBP):c.*343G>A GRCh37: Chr1:11083054 GRCh38: Chr1:11022997	TARDBP		Amyotrophic lateral sclerosis type 10	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87475487.	NM_007375.4(TARDBP):c.*306C>T GRCh37: Chr1:11083017 GRCh38: Chr1:11022960	TARDBP		Amyotrophic lateral sclerosis type 10	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 87385188.	NM_007375.4(TARDBP):c.*2123T>C GRCh37: Chr1:11084834 GRCh38: Chr1:11024777	MASP2, TARDBP		Amyotrophic lateral sclerosis type 10, Immunodeficiency due to MASP-2 deficiency	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87379689.	NM_007375.4(TARDBP):c.*142T>C GRCh37: Chr1:11082853 GRCh38: Chr1:11022796	TARDBP		Amyotrophic lateral sclerosis type 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87379590.	NM_007375.4(TARDBP):c.*73G>C GRCh37: Chr1:11082784 GRCh38: Chr1:11022727	TARDBP		Amyotrophic lateral sclerosis type 10	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87379491.	NM_007375.4(TARDBP):c.*56C>T GRCh37: Chr1:11082767 GRCh38: Chr1:11022710	TARDBP		Amyotrophic lateral sclerosis type 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87379392.	NM_007375.4(TARDBP):c.963C>T (p.Ala321=) GRCh37: Chr1:11082429 GRCh38: Chr1:11022372	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia, Amyotrophic lateral sclerosis type 10	Conflicting interpretations of pathogenicity (Mar 2, 2022)	criteria provided, conflicting interpretations
Select item 87322893.	NM_007375.4(TARDBP):c.1060C>G (p.Gln354Glu) GRCh37: Chr1:11082526 GRCh38: Chr1:11022469	TARDBP	Q354E	Amyotrophic lateral sclerosis type 10	Likely pathogenic (Mar 31, 2020)	criteria provided, single submitter
Select item 87320594.	NM_007375.4(TARDBP):c.893G>T (p.Gly298Val) GRCh37: Chr1:11082359 GRCh38: Chr1:11022302	TARDBP	G298V	Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia, Amyotrophic lateral sclerosis type 10	Conflicting interpretations of pathogenicity (May 30, 2022)	criteria provided, conflicting interpretations
Select item 80706095.	NM_001097577.3(ANG):c.3G>A (p.Met1Ile) GRCh37: Chr14:21161726 GRCh38: Chr14:20693567	ANG, EGILA, RNASE4	M1I	not provided, Amyotrophic lateral sclerosis type 10, Amyotrophic lateral sclerosis type 9	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 70402296.	NM_007375.4(TARDBP):c.24C>T (p.Thr8=) GRCh37: Chr1:11073808 GRCh38: Chr1:11013751	TARDBP		Inborn genetic diseases, Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Benign/Likely benign (Jun 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64157597.	NM_007375.4(TARDBP):c.1108_1122dup (p.Gly370_Tyr374dup) GRCh37: Chr1:11082572-11082573 GRCh38: Chr1:11022515-11022516	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 58681198.	NM_007375.4(TARDBP):c.669C>G (p.Pro223=) GRCh37: Chr1:11080611 GRCh38: Chr1:11020554	TARDBP		Inborn genetic diseases, Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia, not provided, Amyotrophic lateral sclerosis type 10	Conflicting interpretations of pathogenicity (May 14, 2023)	criteria provided, conflicting interpretations
Select item 58681099.	NM_007375.4(TARDBP):c.1122T>C (p.Tyr374=) GRCh37: Chr1:11082588 GRCh38: Chr1:11022531	TARDBP		Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia, Inborn genetic diseases, not provided	Likely benign (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 580997100.	NM_007375.4(TARDBP):c.925G>A (p.Gly309Ser) GRCh37: Chr1:11082391 GRCh38: Chr1:11022334	TARDBP	G309S	Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia, not provided	Uncertain significance (Aug 13, 2021)	criteria provided, multiple submitters, no conflicts

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