C2677565[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 291728	NC_000001.11:g.11012634G>A	TARDBP	Single nucleotide variant	Amyotrophic lateral sclerosis type 10 +2 more	GBenign
Select item 1165369	NM_007375.4(TARDBP):c.-13+95C>T	TARDBP	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2945308	NM_007375.4(TARDBP):c.12T>C (p.Tyr4=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 704022	NM_007375.4(TARDBP):c.24C>T (p.Thr8=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +2 more	GBenign/Likely benign
Select item 875641	NM_007375.4(TARDBP):c.36C>T (p.Asn12=)	TARDBP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 875642	NM_007375.4(TARDBP):c.57A>G (p.Pro19=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GConflicting classifications of pathogenicity
Select item 444152	NM_007375.4(TARDBP):c.87C>T (p.Ser29=)	TARDBP	Single nucleotide variant (synonymous variant)	TARDBP-related frontotemporal dementia +3 more	GConflicting classifications of pathogenicity
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 537329	NM_007375.4(TARDBP):c.111G>A (p.Gly37=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 2923739	NM_007375.4(TARDBP):c.114G>A (p.Ala38=)	TARDBP	Single nucleotide variant (synonymous 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)	TARDBP-related frontotemporal dementia +2 more	GLikely benign
Select item 2939957	NM_007375.4(TARDBP):c.169G>A (p.Val57Ile)	TARDBP (V57I)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 1532171	NM_007375.4(TARDBP):c.189C>T (p.Ala63=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +2 more	GLikely benign
Select item 291734	NM_007375.4(TARDBP):c.198T>C (p.Ala66=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +4 more	GBenign/Likely benign
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 1391648	NM_007375.4(TARDBP):c.227A>G (p.Asn76Ser)	TARDBP (N76S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 291735	NM_007375.4(TARDBP):c.238+9C>T	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +2 more	GBenign
Select item 2921683	NM_007375.4(TARDBP):c.238+21dup	TARDBP	Duplication (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GBenign
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 2941149	NM_007375.4(TARDBP):c.239-18T>C	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GBenign
Select item 291736	NM_007375.4(TARDBP):c.239-15G>A	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 2045365	NM_007375.4(TARDBP):c.239-12C>T	TARDBP	Single nucleotide variant (intron variant)	TARDBP-related frontotemporal dementia +1 more	GLikely benign
Select item 1612730	NM_007375.4(TARDBP):c.239-11G>A	TARDBP	Single nucleotide variant (intron variant)	TARDBP-related frontotemporal dementia +1 more	GLikely benign
Select item 537328	NM_007375.4(TARDBP):c.263C>T (p.Thr88Ile)	TARDBP (T88I)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 21481	NM_007375.4(TARDBP):c.269C>T (p.Ala90Val)	TARDBP	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 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 1963276	NM_007375.4(TARDBP):c.312C>T (p.Ser104=)	TARDBP	Single nucleotide variant (synonymous variant)	TARDBP-related frontotemporal dementia +1 more	GLikely benign
Select item 1594865	NM_007375.4(TARDBP):c.330T>G (p.Gly110=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +2 more	GLikely benign
Select item 1733210	NM_007375.4(TARDBP):c.360G>A (p.Leu120=)	TARDBP	Single nucleotide variant (synonymous variant)	TARDBP-related frontotemporal dementia +2 more	GLikely benign
Select item 1641004	NM_007375.4(TARDBP):c.402+19A>G	TARDBP	Single nucleotide variant (intron variant)	TARDBP-related frontotemporal dementia +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 1571680	NM_007375.4(TARDBP):c.403-5T>C	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 916202	NM_007375.4(TARDBP):c.411A>G (p.Lys137=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +2 more	GLikely benign
Select item 1931570	NM_007375.4(TARDBP):c.465T>C (p.Tyr155=)	TARDBP	Single nucleotide variant (synonymous variant)	TARDBP-related frontotemporal dementia +1 more	GLikely benign
Select item 1998128	NM_007375.4(TARDBP):c.495A>G (p.Arg165=)	TARDBP	Single nucleotide variant (synonymous variant)	TARDBP-related frontotemporal dementia +1 more	GLikely benign
Select item 2940917	NM_007375.4(TARDBP):c.505_506delinsTT (p.Asp169Phe)	TARDBP (D169F)	Indel (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 1631704	NM_007375.4(TARDBP):c.543+9G>A	TARDBP	Single nucleotide variant (intron variant)	TARDBP-related frontotemporal dementia +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 2922673	NM_007375.4(TARDBP):c.543+16C>G	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
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 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 2949435	NM_007375.4(TARDBP):c.544-15T>C	TARDBP	Single nucleotide variant (intron 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 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 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 2113788	NM_007375.4(TARDBP):c.609T>G (p.Thr203=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 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 2117648	NM_007375.4(TARDBP):c.636T>G (p.Ser212=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 2948303	NM_007375.4(TARDBP):c.639G>C (p.Gln213His)	TARDBP (Q213H)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 1753474	NM_007375.4(TARDBP):c.642C>T (p.Tyr214=)	TARDBP	Single nucleotide variant (synonymous variant)	TARDBP-related frontotemporal dementia +2 more	GLikely benign
Select item 586811	NM_007375.4(TARDBP):c.669C>G (p.Pro223=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +3 more	GConflicting classifications of pathogenicity
Select item 291738	NM_007375.4(TARDBP):c.675A>G (p.Pro225=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +3 more	GBenign/Likely 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 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 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 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 2939469	NM_007375.4(TARDBP):c.715-11A>G	TARDBP	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 291739	NM_007375.4(TARDBP):c.720G>A (p.Ala240=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +2 more	GLikely benign
Select item 1760442	NM_007375.4(TARDBP):c.774C>G (p.Ser258=)	TARDBP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2925243	NM_007375.4(TARDBP):c.776A>G (p.Asn259Ser)	TARDBP (N259S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 2600433	NM_007375.4(TARDBP):c.780C>T (p.Ala260=)	TARDBP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1761271	NM_007375.4(TARDBP):c.792C>T (p.His264=)	TARDBP	Single nucleotide variant (synonymous variant)	TARDBP-related frontotemporal dementia +3 more	GBenign/Likely benign
Select item 21482	NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser)	TARDBP	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 21483	NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser)	TARDBP	Single nucleotide variant (missense variant)	Motor neuron disease +3 more	GPathogenic/Likely pathogenic
Select item 5231	NM_007375.4(TARDBP):c.869G>C (p.Gly290Ala)	TARDBP (G290A)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 21484	NM_007375.4(TARDBP):c.881G>T (p.Gly294Val)	MASP2, TARDBP (G294V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +2 more	GPathogenic
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 21485	NM_007375.4(TARDBP):c.883G>A (p.Gly295Ser)	TARDBP	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GPathogenic
Select item 5232	NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser)	TARDBP	Single nucleotide variant (missense variant)	TARDBP-related frontotemporal dementia +2 more	GPathogenic
Select item 873205	NM_007375.4(TARDBP):c.893G>T (p.Gly298Val)	TARDBP (G298V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GConflicting classifications of pathogenicity
Select item 1632482	NM_007375.4(TARDBP):c.900A>G (p.Gly300=)	TARDBP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2930128	NM_007375.4(TARDBP):c.909A>G (p.Gln303=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
Select item 580997	NM_007375.4(TARDBP):c.925G>A (p.Gly309Ser)	TARDBP (G309S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +2 more	GUncertain significance
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 21487	NM_007375.4(TARDBP):c.931A>G (p.Met311Val)	TARDBP (M311V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +2 more	GLikely pathogenic
Select item 1932329	NM_007375.4(TARDBP):c.939T>C (p.Phe313=)	TARDBP	Single nucleotide variant (synonymous variant)	TARDBP-related frontotemporal dementia +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 5236	NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr)	TARDBP	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1951906	NM_007375.4(TARDBP):c.944C>T (p.Ala315Val)	TARDBP (A315V)	Single nucleotide variant (missense variant)	TARDBP-related frontotemporal dementia +1 more	GUncertain significance
Select item 374720	NM_007375.4(TARDBP):c.945G>A (p.Ala315=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +2 more	GLikely benign
Select item 1713356	NM_007375.4(TARDBP):c.946T>C (p.Phe316Leu)	TARDBP (F316L)	Single nucleotide variant (missense variant)	TARDBP-related frontotemporal dementia +1 more	GUncertain significance
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 873793	NM_007375.4(TARDBP):c.963C>T (p.Ala321=)	TARDBP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 805651	NM_007375.4(TARDBP):c.975C>T (p.Ala325=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +2 more	GBenign/Likely benign
Select item 1958663	NM_007375.4(TARDBP):c.976G>A (p.Ala326Thr)	TARDBP (A326T)	Single nucleotide variant (missense variant)	TARDBP-related frontotemporal dementia +1 more	GUncertain significance
Select item 2932571	NM_007375.4(TARDBP):c.990A>G (p.Leu330=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +1 more	GLikely benign
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 5228	NM_007375.4(TARDBP):c.1009A>G (p.Met337Val)	TARDBP	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +2 more	GPathogenic
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 21467	NM_007375.4(TARDBP):c.1035C>A (p.Asn345Lys)	TARDBP (N345K)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GPathogenic
Select item 5234	NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys)	TARDBP	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +2 more	GPathogenic/Likely pathogenic
Select item 1911042	NM_007375.4(TARDBP):c.1051G>A (p.Gly351Ser)	TARDBP (G351S)	Single nucleotide variant (missense variant)	TARDBP-related frontotemporal dementia +1 more	GUncertain significance
Select item 1980676	NM_007375.4(TARDBP):c.1054A>G (p.Asn352Asp)	TARDBP (N352D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 21468	NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser)	TARDBP	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 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 1723255	NM_007375.4(TARDBP):c.1070G>A (p.Gly357Asp)	TARDBP (G357D)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 291740	NM_007375.4(TARDBP):c.1098C>G (p.Ala366=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +6 more	GBenign/Likely benign
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

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