51086[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1061

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	AK4, ANKRD13C +210 more	Copy number gain	See cases	GPathogenic
Select item 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	ACADM, ANKRD13C +165 more	Copy number loss	See cases	GPathogenic
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 2864977	NM_015978.3(TNNI3K):c.1A>G (p.Met1Val)	FPGT-TNNI3K, TNNI3K (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1965408	NM_015978.3(TNNI3K):c.2T>A (p.Met1Lys)	FPGT-TNNI3K, TNNI3K (M1K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2003186	NM_015978.3(TNNI3K):c.10_16del (p.Tyr4fs)	FPGT-TNNI3K, TNNI3K (Y4fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3068706	NM_015978.3(TNNI3K):c.19A>G (p.Arg7Gly)	FPGT-TNNI3K, TNNI3K (R7G)	Single nucleotide variant (missense variant +1 more)	Atrial conduction disease	GUncertain significance
Select item 1556909	NM_015978.3(TNNI3K):c.21A>G (p.Arg7=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1916218	NM_015978.3(TNNI3K):c.22C>T (p.Pro8Ser)	FPGT-TNNI3K, TNNI3K (P8S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2757644	NM_015978.3(TNNI3K):c.23C>A (p.Pro8Gln)	FPGT-TNNI3K, TNNI3K (P8Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2705577	NM_015978.3(TNNI3K):c.27C>A (p.Thr9=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2056631	NM_015978.3(TNNI3K):c.28C>A (p.Gln10Lys)	FPGT-TNNI3K, TNNI3K (Q10K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3016648	NM_015978.3(TNNI3K):c.38_40+3del	FPGT-TNNI3K, TNNI3K	Deletion (intron variant +1 more)	not provided	GUncertain significance
Select item 1460658	NM_015978.3(TNNI3K):c.35G>A (p.Cys12Tyr)	FPGT-TNNI3K, TNNI3K (C12Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3004573	NM_015978.3(TNNI3K):c.37A>G (p.Thr13Ala)	FPGT-TNNI3K, TNNI3K (T13A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371017	NM_015978.3(TNNI3K):c.40+1G>C	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1516938	NM_015978.3(TNNI3K):c.40+2T>C	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1273965	NM_015978.3(TNNI3K):c.40+120T>A	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258735	NM_015978.3(TNNI3K):c.41-135A>T	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1583066	NM_015978.3(TNNI3K):c.41-19A>G	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804783	NM_015978.3(TNNI3K):c.41-15G>T	TNNI3K, FPGT-TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1536878	NM_015978.3(TNNI3K):c.41-15G>C	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1543294	NM_015978.3(TNNI3K):c.41-12C>T	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1964468	NM_015978.3(TNNI3K):c.41-6dup	FPGT-TNNI3K, TNNI3K	Duplication (intron variant)	not provided	GLikely benign
Select item 2797766	NM_015978.3(TNNI3K):c.41A>G (p.Asp14Gly)	FPGT-TNNI3K, TNNI3K (D115G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181674	NM_015978.3(TNNI3K):c.42T>A (p.Asp14Glu)	FPGT-TNNI3K, TNNI3K (D14E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855796	NM_015978.3(TNNI3K):c.43G>A (p.Glu15Lys)	FPGT-TNNI3K, TNNI3K (E15K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3459420	NM_015978.3(TNNI3K):c.46T>C (p.Trp16Arg)	FPGT-TNNI3K, TNNI3K (W117R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2843560	NM_015978.3(TNNI3K):c.57A>T (p.Lys19Asn)	FPGT-TNNI3K, TNNI3K (K120N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796647	NM_015978.3(TNNI3K):c.62_69del (p.Ser21fs)	FPGT-TNNI3K, TNNI3K (S21fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1357020	NM_015978.3(TNNI3K):c.76A>G (p.Ile26Val)	FPGT-TNNI3K, TNNI3K (I26V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1441889	NM_015978.3(TNNI3K):c.77T>C (p.Ile26Thr)	FPGT-TNNI3K, TNNI3K (I26T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699680	NM_015978.3(TNNI3K):c.81A>G (p.Thr27=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2097053	NM_015978.3(TNNI3K):c.85G>A (p.Glu29Lys)	FPGT-TNNI3K, TNNI3K (E29K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839806	NM_015978.3(TNNI3K):c.89G>T (p.Arg30Ile)	FPGT-TNNI3K, TNNI3K (R131I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819618	NM_015978.3(TNNI3K):c.90A>G (p.Arg30=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3068614	NM_015978.3(TNNI3K):c.92T>G (p.Leu31Ter)	FPGT-TNNI3K, TNNI3K (L132* +1 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1971776	NM_015978.3(TNNI3K):c.106C>T (p.Gln36Ter)	FPGT-TNNI3K, TNNI3K (Q137* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1410414	NM_015978.3(TNNI3K):c.121G>T (p.Glu41Ter)	FPGT-TNNI3K, TNNI3K (E41* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2596679	NM_001112808.3(FPGT-TNNI3K):c.428T>G (p.Leu143Arg)	FPGT-TNNI3K, TNNI3K (L143R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1968231	NM_015978.3(TNNI3K):c.127A>G (p.Thr43Ala)	FPGT-TNNI3K, TNNI3K (T144A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2258747	NM_001112808.3(FPGT-TNNI3K):c.435A>T (p.Glu145Asp)	FPGT-TNNI3K, TNNI3K (E145D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225241	NM_001112808.3(FPGT-TNNI3K):c.439A>G (p.Arg147Gly)	FPGT-TNNI3K, TNNI3K (R147G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1595992	NM_015978.3(TNNI3K):c.141T>C (p.Asn47=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1470410	NM_015978.3(TNNI3K):c.142A>G (p.Ile48Val)	FPGT-TNNI3K, TNNI3K (I149V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1481981	NM_015978.3(TNNI3K):c.149+5A>T	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1553833	NM_015978.3(TNNI3K):c.149+9G>A	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765477	NM_015978.3(TNNI3K):c.149+11_149+19del	FPGT-TNNI3K, TNNI3K	Deletion (intron variant)	not provided	GUncertain significance
Select item 2788977	NM_015978.3(TNNI3K):c.149+13G>C	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1966644	NM_015978.3(TNNI3K):c.149+17C>A	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1954375	NM_015978.3(TNNI3K):c.149+18A>C	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1571126	NM_015978.3(TNNI3K):c.149+21_149+23del	FPGT-TNNI3K, TNNI3K	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1259382	NM_015978.3(TNNI3K):c.149+56T>A	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1913345	NM_015978.3(TNNI3K):c.150-9T>A	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1515335	NM_015978.3(TNNI3K):c.150-5T>C	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2746773	NM_015978.3(TNNI3K):c.150-4T>C	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2072190	NM_015978.3(TNNI3K):c.150-3C>T	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2085205	NM_015978.3(TNNI3K):c.152C>T (p.Ser51Phe)	FPGT-TNNI3K, TNNI3K (S51F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1483528	NM_015978.3(TNNI3K):c.156T>A (p.Asp52Glu)	TNNI3K, FPGT-TNNI3K (D153E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090584	NM_015978.3(TNNI3K):c.166_167insATTCA (p.Ser56fs)	FPGT-TNNI3K, TNNI3K (S56fs +1 more)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 1408850	NM_015978.3(TNNI3K):c.164T>G (p.Phe55Cys)	FPGT-TNNI3K, TNNI3K (F55C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1903286	NM_015978.3(TNNI3K):c.165C>A (p.Phe55Leu)	FPGT-TNNI3K, TNNI3K (F55L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965020	NM_015978.3(TNNI3K):c.166A>T (p.Ser56Cys)	FPGT-TNNI3K, TNNI3K (S56C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2258781	NM_015978.3(TNNI3K):c.171A>T (p.Lys57Asn)	FPGT-TNNI3K, TNNI3K (K57N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1719107	NM_015978.3(TNNI3K):c.172G>C (p.Val58Leu)	TNNI3K, FPGT-TNNI3K (V159L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1514392	NM_015978.3(TNNI3K):c.175A>G (p.Asn59Asp)	FPGT-TNNI3K, TNNI3K (N160D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1441837	NM_015978.3(TNNI3K):c.176A>G (p.Asn59Ser)	FPGT-TNNI3K, TNNI3K (N160S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2044632	NM_015978.3(TNNI3K):c.182A>G (p.Asn61Ser)	FPGT-TNNI3K, TNNI3K (N61S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505776	NM_015978.3(TNNI3K):c.186C>A (p.Tyr62Ter)	FPGT-TNNI3K, TNNI3K (Y62* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1049591	NM_015978.3(TNNI3K):c.187C>T (p.Arg63Cys)	FPGT-TNNI3K, TNNI3K (R164C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1439866	NM_015978.3(TNNI3K):c.188G>A (p.Arg63His)	FPGT-TNNI3K, TNNI3K (R164H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752804	NM_015978.3(TNNI3K):c.189C>T (p.Arg63=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2768651	NM_015978.3(TNNI3K):c.192T>G (p.Thr64=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1547619	NM_015978.3(TNNI3K):c.192T>C (p.Thr64=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1599675	NM_015978.3(TNNI3K):c.193G>T (p.Glu65Ter)	FPGT-TNNI3K, TNNI3K (E166* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GBenign/Likely benign
Select item 3373520	NM_015978.3(TNNI3K):c.197del (p.Asn66fs)	FPGT-TNNI3K, TNNI3K (N167fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2813595	NM_015978.3(TNNI3K):c.195A>T (p.Glu65Asp)	FPGT-TNNI3K, TNNI3K (E65D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810025	NM_015978.3(TNNI3K):c.195_196insTTT (p.Glu65_Asn66insPhe)	FPGT-TNNI3K, TNNI3K	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 2880492	NM_015978.3(TNNI3K):c.201_204dup (p.Ser69fs)	FPGT-TNNI3K, TNNI3K (S170fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2878988	NM_015978.3(TNNI3K):c.200G>A (p.Gly67Glu)	FPGT-TNNI3K, TNNI3K (G168E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810026	NM_015978.3(TNNI3K):c.201_204del (p.Ser69fs)	FPGT-TNNI3K, TNNI3K (S170fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1542565	NM_015978.3(TNNI3K):c.201G>A (p.Gly67=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810027	NM_015978.3(TNNI3K):c.204G>T (p.Leu68=)	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1951198	NM_015978.3(TNNI3K):c.205T>A (p.Ser69Thr)	FPGT-TNNI3K, TNNI3K (S170T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881473	NM_015978.3(TNNI3K):c.209dup (p.Leu71fs)	FPGT-TNNI3K, TNNI3K (L172fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2803155	NM_015978.3(TNNI3K):c.211C>T (p.Leu71Phe)	FPGT-TNNI3K, TNNI3K (L71F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919723	NM_015978.3(TNNI3K):c.224G>T (p.Cys75Phe)	FPGT-TNNI3K, TNNI3K (C75F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501027	NM_015978.3(TNNI3K):c.233del (p.Gly78fs)	FPGT-TNNI3K, TNNI3K (G179fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 636835	NM_015978.3(TNNI3K):c.235G>A (p.Gly79Ser)	FPGT-TNNI3K, TNNI3K (G79S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692928	NM_015978.3(TNNI3K):c.235+3_235+6del	FPGT-TNNI3K, TNNI3K	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2104055	NM_015978.3(TNNI3K):c.235+1G>A	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1934048	NM_015978.3(TNNI3K):c.235+3G>A	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2986293	NM_015978.3(TNNI3K):c.235+5G>A	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2972641	NM_015978.3(TNNI3K):c.235+12A>G	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2039215	NM_015978.3(TNNI3K):c.235+12A>C	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1569105	NM_015978.3(TNNI3K):c.235+20T>C	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270859	NM_015978.3(TNNI3K):c.236-46C>A	FPGT-TNNI3K, TNNI3K	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 11