ClinVar for MedGen (Select 383137) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 196

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064961	NM_007375.4(TARDBP):c.67G>A (p.Asp23Asn)	TARDBP (D23N)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10	GUncertain significance
Select item 2951868	NM_007375.4(TARDBP):c.95C>T (p.Thr32Ile)	TARDBP (T32I)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 2951046	NM_007375.4(TARDBP):c.273A>G (p.Ser91=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 2949780	NM_007375.4(TARDBP):c.1122T>A (p.Tyr374Ter)	TARDBP (Y374*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 2949435	NM_007375.4(TARDBP):c.544-15T>C	TARDBP	Single nucleotide variant (intron variant)	TARDBP-related frontotemporal dementia +1 more	GLikely benign
Select item 2948303	NM_007375.4(TARDBP):c.639G>C (p.Gln213His)	TARDBP (Q213H)	Single nucleotide variant (missense variant)	TARDBP-related frontotemporal dementia +1 more	GUncertain significance
Select item 2948176	NM_007375.4(TARDBP):c.1148T>C (p.Ile383Thr)	TARDBP (I383T)	Single nucleotide variant (missense variant)	TARDBP-related frontotemporal dementia +1 more	GUncertain significance
Select item 2945308	NM_007375.4(TARDBP):c.12T>C (p.Tyr4=)	TARDBP	Single nucleotide variant (synonymous variant)	TARDBP-related frontotemporal dementia +1 more	GLikely benign
Select item 2941149	NM_007375.4(TARDBP):c.239-18T>C	TARDBP	Single nucleotide variant (intron variant)	TARDBP-related frontotemporal dementia +1 more	GBenign
Select item 2940917	NM_007375.4(TARDBP):c.505_506delinsTT (p.Asp169Phe)	TARDBP (D169F)	Indel (missense variant)	TARDBP-related frontotemporal dementia +1 more	GUncertain significance
Select item 2939957	NM_007375.4(TARDBP):c.169G>A (p.Val57Ile)	TARDBP (V57I)	Single nucleotide variant (missense variant)	TARDBP-related frontotemporal dementia +1 more	GUncertain significance
Select item 2939469	NM_007375.4(TARDBP):c.715-11A>G	TARDBP	Single nucleotide variant (intron variant)	TARDBP-related frontotemporal dementia +1 more	GLikely benign
Select item 2937145	NM_007375.4(TARDBP):c.1179G>A (p.Ser393=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 2932571	NM_007375.4(TARDBP):c.990A>G (p.Leu330=)	TARDBP	Single nucleotide variant (synonymous variant)	TARDBP-related frontotemporal dementia +1 more	GLikely benign
Select item 2930128	NM_007375.4(TARDBP):c.909A>G (p.Gln303=)	TARDBP	Single nucleotide variant (synonymous variant)	TARDBP-related frontotemporal dementia +1 more	GLikely benign
Select item 2927253	NM_007375.4(TARDBP):c.290A>G (p.Lys97Arg)	TARDBP (K97R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 2926575	NM_007375.4(TARDBP):c.1141G>A (p.Ala381Thr)	TARDBP (A381T)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 2925243	NM_007375.4(TARDBP):c.776A>G (p.Asn259Ser)	TARDBP (N259S)	Single nucleotide variant (missense variant)	TARDBP-related frontotemporal dementia +1 more	GUncertain significance
Select item 2923739	NM_007375.4(TARDBP):c.114G>A (p.Ala38=)	TARDBP	Single nucleotide variant (synonymous variant)	TARDBP-related frontotemporal dementia +1 more	GLikely benign
Select item 2922673	NM_007375.4(TARDBP):c.543+16C>G	TARDBP	Single nucleotide variant (intron variant)	TARDBP-related frontotemporal dementia +1 more	GLikely benign
Select item 2921683	NM_007375.4(TARDBP):c.238+21dup	TARDBP	Duplication (intron variant)	TARDBP-related frontotemporal dementia +1 more	GBenign
Select item 2600433	NM_007375.4(TARDBP):c.780C>T (p.Ala260=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +2 more	GLikely benign
Select item 2501300	NM_007375.4(TARDBP):c.1133A>G (p.Asn378Ser)	TARDBP (N378S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10	GLikely pathogenic
Select item 2202700	NM_007375.4(TARDBP):c.1178C>T (p.Ser393Leu)	TARDBP (S393L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 2202699	NM_007375.4(TARDBP):c.1123A>G (p.Ser375Gly)	TARDBP (S375G)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely pathogenic
Select item 2200963	NM_007375.4(TARDBP):c.930G>A (p.Gly310=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 2161595	NM_007375.4(TARDBP):c.1129T>A (p.Ser377Thr)	TARDBP (S377T)	Single nucleotide variant (missense variant)	TARDBP-related frontotemporal dementia +2 more	GConflicting classifications of pathogenicity
Select item 2159796	NM_007375.4(TARDBP):c.543+20G>T	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 2153271	NM_007375.4(TARDBP):c.238+16G>T	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 2149700	NM_007375.4(TARDBP):c.403-14A>G	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 2117648	NM_007375.4(TARDBP):c.636T>G (p.Ser212=)	TARDBP	Single nucleotide variant (synonymous variant)	TARDBP-related frontotemporal dementia +1 more	GLikely benign
Select item 2113788	NM_007375.4(TARDBP):c.609T>G (p.Thr203=)	TARDBP	Single nucleotide variant (synonymous variant)	TARDBP-related frontotemporal dementia +1 more	GLikely benign
Select item 2093564	NM_007375.4(TARDBP):c.714+18G>A	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 2085409	NM_007375.4(TARDBP):c.1173A>G (p.Ala391=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 2082002	NM_007375.4(TARDBP):c.1157G>A (p.Gly386Glu)	TARDBP (G386E)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 2076493	NM_007375.4(TARDBP):c.715-18A>G	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 2073160	NM_007375.4(TARDBP):c.941G>C (p.Gly314Ala)	TARDBP (G314A)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 2061989	NM_007375.4(TARDBP):c.587G>A (p.Gly196Glu)	TARDBP (G196E)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 2045365	NM_007375.4(TARDBP):c.239-12C>T	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 2025794	NM_007375.4(TARDBP):c.1167_1172dup (p.Ala391_Gly392insAsnAla)	TARDBP	Duplication (inframe_insertion)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 2007386	NM_007375.4(TARDBP):c.1131dup (p.Asn378Ter)	TARDBP (N378*)	Duplication (nonsense)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 1998128	NM_007375.4(TARDBP):c.495A>G (p.Arg165=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 1980676	NM_007375.4(TARDBP):c.1054A>G (p.Asn352Asp)	TARDBP (N352D)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 1963276	NM_007375.4(TARDBP):c.312C>T (p.Ser104=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +2 more	GLikely benign
Select item 1958663	NM_007375.4(TARDBP):c.976G>A (p.Ala326Thr)	TARDBP (A326T)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 1951906	NM_007375.4(TARDBP):c.944C>T (p.Ala315Val)	TARDBP (A315V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 1932329	NM_007375.4(TARDBP):c.939T>C (p.Phe313=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 1931570	NM_007375.4(TARDBP):c.465T>C (p.Tyr155=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 1911042	NM_007375.4(TARDBP):c.1051G>A (p.Gly351Ser)	TARDBP (G351S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 1806944	NM_007375.4(TARDBP):c.883G>C (p.Gly295Arg)	TARDBP (G295R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1801690	NM_001008212.2(OPTN):c.493C>T (p.Gln165Ter)	OPTN (Q165*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 10 +3 more	GPathogenic/Likely pathogenic
Select item 1801689	NM_006000.3(TUBA4A):c.648C>A (p.Asn216Lys)	TUBA4A (N201K +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10	GUncertain significance
Select item 1801688	NM_006262.4(PRPH):c.1235A>C (p.His412Pro)	TROAP-AS1, LOC124629354 +1 more (H412P)	Single nucleotide variant (non-coding transcript variant +1 more)	Amyotrophic lateral sclerosis type 10	GUncertain significance
Select item 1801687	NM_005235.3(ERBB4):c.3494C>G (p.Pro1165Arg)	ERBB4 (P1149R +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10	GUncertain significance
Select item 1761271	NM_007375.4(TARDBP):c.792C>T (p.His264=)	TARDBP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1760442	NM_007375.4(TARDBP):c.774C>G (p.Ser258=)	TARDBP	Single nucleotide variant (synonymous variant)	TARDBP-related frontotemporal dementia +2 more	GLikely benign
Select item 1753474	NM_007375.4(TARDBP):c.642C>T (p.Tyr214=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +2 more	GLikely benign
Select item 1750908	NM_007375.4(TARDBP):c.1213A>G (p.Met405Val)	TARDBP (M405V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +2 more	GUncertain significance
Select item 1733210	NM_007375.4(TARDBP):c.360G>A (p.Leu120=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +2 more	GLikely benign
Select item 1723255	NM_007375.4(TARDBP):c.1070G>A (p.Gly357Asp)	TARDBP (G357D)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +2 more	GUncertain significance
Select item 1713356	NM_007375.4(TARDBP):c.946T>C (p.Phe316Leu)	TARDBP (F316L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 1643969	NM_007375.4(TARDBP):c.714+17C>T	TARDBP	Single nucleotide variant (intron variant)	TARDBP-related frontotemporal dementia +1 more	GLikely benign
Select item 1641004	NM_007375.4(TARDBP):c.402+19A>G	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 1632482	NM_007375.4(TARDBP):c.900A>G (p.Gly300=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 1631704	NM_007375.4(TARDBP):c.543+9G>A	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 1630562	NM_007375.4(TARDBP):c.162C>T (p.Val54=)	TARDBP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1612730	NM_007375.4(TARDBP):c.239-11G>A	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 1597065	NM_007375.4(TARDBP):c.543+15G>A	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 1594865	NM_007375.4(TARDBP):c.330T>G (p.Gly110=)	TARDBP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1571680	NM_007375.4(TARDBP):c.403-5T>C	TARDBP	Single nucleotide variant (intron variant)	TARDBP-related condition +2 more	GLikely benign
Select item 1565075	NM_007375.4(TARDBP):c.622C>A (p.Arg208=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 1534770	NM_007375.4(TARDBP):c.544-17C>T	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GBenign
Select item 1532171	NM_007375.4(TARDBP):c.189C>T (p.Ala63=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 1508131	NM_007375.4(TARDBP):c.1155G>A (p.Trp385Ter)	TARDBP (W385*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 1448395	NM_007375.4(TARDBP):c.995G>A (p.Ser332Asn)	TARDBP (S332N)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 1446008	NM_007375.4(TARDBP):c.1069G>C (p.Gly357Arg)	TARDBP (G357R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 1438165	NM_007375.4(TARDBP):c.1056T>C (p.Asn352=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 1438154	NM_007375.4(TARDBP):c.1015A>G (p.Met339Val)	TARDBP (M339V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 1424254	NM_005235.3(ERBB4):c.1441A>G (p.Ile481Val)	ERBB4 (I481V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1392100	NM_007375.4(TARDBP):c.1187G>A (p.Gly396Asp)	TARDBP (G396D)	Single nucleotide variant (missense variant)	TARDBP-related frontotemporal dementia +1 more	GUncertain significance
Select item 1391648	NM_007375.4(TARDBP):c.227A>G (p.Asn76Ser)	TARDBP (N76S)	Single nucleotide variant (missense variant)	TARDBP-related frontotemporal dementia +1 more	GUncertain significance
Select item 1300489	NM_007375.4(TARDBP):c.1169A>G (p.Asn390Ser)	TARDBP (N390S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +3 more	GConflicting classifications of pathogenicity
Select item 1256195	NM_007375.4(TARDBP):c.1121A>T (p.Tyr374Phe)	TARDBP (Y374F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1165369	NM_007375.4(TARDBP):c.-13+95C>T	TARDBP	Single nucleotide variant (intron variant)	TARDBP-related frontotemporal dementia +1 more	GBenign
Select item 1139307	NM_007375.4(TARDBP):c.1101C>T (p.Phe367=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 1138748	NM_007375.4(TARDBP):c.699A>G (p.Thr233=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 1089253	NM_007375.4(TARDBP):c.544-6G>C	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 1031736	NM_007375.4(TARDBP):c.623G>A (p.Arg208Gln)	TARDBP (R208Q)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10	GUncertain significance
Select item 961801	NM_007375.4(TARDBP):c.550C>A (p.Gln184Lys)	TARDBP (Q184K)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 941988	NM_007375.4(TARDBP):c.208A>G (p.Asn70Asp)	TARDBP (N70D)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 939152	NM_007375.4(TARDBP):c.1132A>G (p.Asn378Asp)	TARDBP (N378D)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely pathogenic
Select item 938527	NM_007375.4(TARDBP):c.962C>A (p.Ala321Asp)	TARDBP (A321D)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely pathogenic
Select item 916202	NM_007375.4(TARDBP):c.411A>G (p.Lys137=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +3 more	GLikely benign
Select item 876684	NM_007375.4(TARDBP):c.*954A>G	TARDBP	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 10	GUncertain significance
Select item 876640	NM_007375.4(TARDBP):c.717T>C (p.Ile239=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10	GUncertain significance
Select item 875738	NM_007375.4(TARDBP):c.*2823T>C	TARDBP	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 10	GUncertain significance
Select item 875696	NM_007375.4(TARDBP):c.*763G>A	TARDBP	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 10	GUncertain significance
Select item 875695	NM_007375.4(TARDBP):c.*670T>C	TARDBP	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 10	GUncertain significance
Select item 875694	NM_007375.4(TARDBP):c.*663C>T	TARDBP	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 10	GUncertain significance
Select item 875693	NM_007375.4(TARDBP):c.*616G>C	TARDBP	Single nucleotide variant (3 prime UTR variant)	Amyotrophic lateral sclerosis type 10	GUncertain significance

<< First< Prev

Page of 2