ClinVar for Gene (Select 6453) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353820	NM_003024.3(ITSN1):c.5017+8G>T	ITSN1	Single nucleotide variant (intron variant)	ITSN1-related disorder	GLikely benign
Select item 3348740	NM_003024.3(ITSN1):c.1300_1305+1dup	ITSN1	Duplication (splice donor variant)	ITSN1-related disorder	GUncertain significance
Select item 3348664	NM_003024.3(ITSN1):c.1538C>T (p.Thr513Ile)	ITSN1 (T476I +1 more)	Single nucleotide variant (missense variant)	ITSN1-related disorder	GUncertain significance
Select item 3348430	NM_003024.3(ITSN1):c.653del (p.Pro218fs)	ITSN1 (P181fs +1 more)	Deletion (frameshift variant)	ITSN1-related disorder	GUncertain significance
Select item 3343424	NM_003024.3(ITSN1):c.1761T>A (p.Asp587Glu)	ITSN1 (D550E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343083	NM_003024.3(ITSN1):c.761T>C (p.Leu254Ser)	ITSN1 (L217S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342924	NM_003024.3(ITSN1):c.1660C>T (p.Gln554Ter)	ITSN1 (Q517* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3340324	NM_003024.3(ITSN1):c.1102C>T (p.Arg368Ter)	ITSN1 (R331* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3287064	NM_003024.3(ITSN1):c.4918A>G (p.Asn1640Asp)	ITSN1 (N1635D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287063	NM_003024.3(ITSN1):c.2468C>G (p.Pro823Arg)	ITSN1 (P781R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287062	NM_003024.3(ITSN1):c.2075A>G (p.Asp692Gly)	ITSN1 (D655G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287061	NM_003024.3(ITSN1):c.2018C>G (p.Pro673Arg)	ITSN1 (P636R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287060	NM_003024.3(ITSN1):c.4238C>T (p.Ala1413Val)	ITSN1 (A1413V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287059	NM_003024.3(ITSN1):c.2434C>G (p.Pro812Ala)	ITSN1 (P770A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3287058	NM_003024.3(ITSN1):c.3695C>T (p.Thr1232Ile)	ITSN1 (T1227I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252367	NM_003024.3(ITSN1):c.622A>G (p.Ser208Gly)	ITSN1 (S171G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3239171	NM_003024.3(ITSN1):c.1646A>G (p.Asn549Ser)	ITSN1 (N512S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3111992	NM_003024.3(ITSN1):c.875G>A (p.Gly292Asp)	ITSN1 (G255D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111991	NM_003024.3(ITSN1):c.5155G>A (p.Asp1719Asn)	ITSN1 (D1714N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111990	NM_003024.3(ITSN1):c.4954C>T (p.Arg1652Ter)	ITSN1 (R1647* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 3111989	NM_003024.3(ITSN1):c.4763G>A (p.Arg1588His)	ITSN1, LOC126653350 (R1583H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111988	NM_003024.3(ITSN1):c.469C>T (p.Pro157Ser)	ITSN1 (P120S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3111987	NM_003024.3(ITSN1):c.4640G>A (p.Arg1547His)	ITSN1 (R1547H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111986	NM_003024.3(ITSN1):c.4483C>G (p.Pro1495Ala)	ITSN1 (P1490A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111985	NM_003024.3(ITSN1):c.4409A>G (p.Tyr1470Cys)	ITSN1 (Y1470C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3111984	NM_003024.3(ITSN1):c.3621T>G (p.Asn1207Lys)	ITSN1 (N1136K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111983	NM_003024.3(ITSN1):c.3503C>T (p.Ala1168Val)	ITSN1 (A1126V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111982	NM_003024.3(ITSN1):c.3464C>T (p.Ala1155Val)	ITSN1 (A1084V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3111981	NM_003024.3(ITSN1):c.2975G>A (p.Arg992Gln)	ITSN1 (R987Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3111980	NM_003024.3(ITSN1):c.244A>G (p.Met82Val)	ITSN1 (M82V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111978	NM_003024.3(ITSN1):c.2230T>C (p.Tyr744His)	ITSN1 (Y744H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111977	NM_003024.3(ITSN1):c.2212G>A (p.Glu738Lys)	ITSN1 (E738K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111976	NM_003024.3(ITSN1):c.2129A>G (p.His710Arg)	ITSN1 (H673R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111975	NM_003024.3(ITSN1):c.2032G>A (p.Glu678Lys)	ITSN1 (E641K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111974	NM_003024.3(ITSN1):c.2003A>G (p.Asp668Gly)	ITSN1 (D631G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111972	NM_003024.3(ITSN1):c.1712C>A (p.Ala571Asp)	ITSN1 (A534D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111971	NM_003024.3(ITSN1):c.1702C>T (p.Leu568Phe)	ITSN1 (L531F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111969	NM_003024.3(ITSN1):c.1166C>T (p.Ala389Val)	ITSN1 (A352V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111968	NM_003024.3(ITSN1):c.1163G>A (p.Arg388Gln)	ITSN1 (R388Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3111967	NM_003024.3(ITSN1):c.1079G>A (p.Arg360His)	ITSN1 (R323H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111966	NM_003024.3(ITSN1):c.1040C>T (p.Pro347Leu)	ITSN1 (P310L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064025	NM_003024.3(ITSN1):c.2405A>C (p.Glu802Ala)	ITSN1 (E760A +2 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 3062433	GRCh37/hg19 21q22.11(chr21:35199880-35364620)x1	ATP5PO, ITSN1	Copy number loss	not specified	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 3061571	NM_003024.3(ITSN1):c.1597-3C>T	ITSN1	Single nucleotide variant (intron variant)	ITSN1-related disorder	GLikely benign
Select item 3061541	NM_003024.3(ITSN1):c.4317C>T (p.His1439=)	ITSN1	Single nucleotide variant (synonymous variant)	ITSN1-related disorder	GLikely benign
Select item 3058071	NM_003024.3(ITSN1):c.1952+10C>T	ITSN1	Single nucleotide variant (intron variant)	ITSN1-related disorder	GLikely benign
Select item 3054846	NM_003024.3(ITSN1):c.2836C>G (p.Gln946Glu)	ITSN1 (Q904E +2 more)	Single nucleotide variant (missense variant)	ITSN1-related disorder	GUncertain significance
Select item 3054788	NM_003024.3(ITSN1):c.3109G>A (p.Asp1037Asn)	ITSN1 (D1032N +2 more)	Single nucleotide variant (missense variant +1 more)	ITSN1-related disorder	GUncertain significance
Select item 3054638	NM_003024.3(ITSN1):c.2582C>T (p.Thr861Met)	ITSN1 (T819M +2 more)	Single nucleotide variant (missense variant)	ITSN1-related disorder	GUncertain significance
Select item 3049132	NM_003024.3(ITSN1):c.1507T>C (p.Leu503=)	ITSN1	Single nucleotide variant (synonymous variant)	ITSN1-related disorder	GLikely benign
Select item 3049075	NM_003024.3(ITSN1):c.2641G>A (p.Val881Ile)	ITSN1 (V839I +2 more)	Single nucleotide variant (missense variant)	ITSN1-related disorder	GBenign
Select item 3048633	NM_003024.3(ITSN1):c.4146A>G (p.Val1382=)	ITSN1	Single nucleotide variant (synonymous variant)	ITSN1-related disorder	GLikely benign
Select item 3048251	NM_003024.3(ITSN1):c.2708C>T (p.Pro903Leu)	ITSN1 (P861L +2 more)	Single nucleotide variant (missense variant)	ITSN1-related disorder	GBenign
Select item 3047598	NM_003024.3(ITSN1):c.4980C>T (p.Cys1660=)	ITSN1	Single nucleotide variant (synonymous variant)	ITSN1-related disorder	GLikely benign
Select item 3047589	NM_003024.3(ITSN1):c.3513C>T (p.Asp1171=)	ITSN1	Single nucleotide variant (synonymous variant)	ITSN1-related disorder	GLikely benign
Select item 3047216	NM_003024.3(ITSN1):c.4224C>T (p.His1408=)	ITSN1	Single nucleotide variant (synonymous variant)	ITSN1-related disorder	GLikely benign
Select item 3045875	NM_003024.3(ITSN1):c.4314C>A (p.Ala1438=)	ITSN1	Single nucleotide variant (synonymous variant)	ITSN1-related disorder	GLikely benign
Select item 3044621	NM_003024.3(ITSN1):c.4555-8C>A	ITSN1	Single nucleotide variant (intron variant)	ITSN1-related disorder	GBenign
Select item 3044204	NM_003024.3(ITSN1):c.813T>C (p.Asp271=)	ITSN1	Single nucleotide variant (synonymous variant)	ITSN1-related disorder	GLikely benign
Select item 3043556	NM_003024.3(ITSN1):c.2568-9dup	ITSN1	Duplication (intron variant)	ITSN1-related disorder	GLikely benign
Select item 3043413	NM_003024.3(ITSN1):c.624-7C>G	ITSN1	Single nucleotide variant (intron variant)	ITSN1-related disorder	GLikely benign
Select item 3042735	NM_003024.3(ITSN1):c.1701A>G (p.Thr567=)	ITSN1	Single nucleotide variant (synonymous variant)	ITSN1-related disorder	GLikely benign
Select item 3039558	NM_003024.3(ITSN1):c.4884G>A (p.Gln1628=)	ITSN1	Single nucleotide variant (synonymous variant)	ITSN1-related disorder	GLikely benign
Select item 3038709	NM_003024.3(ITSN1):c.297C>G (p.Pro99=)	ITSN1	Single nucleotide variant (synonymous variant)	ITSN1-related disorder	GLikely benign
Select item 3037039	NM_003024.3(ITSN1):c.4676+7C>T	ITSN1	Single nucleotide variant (intron variant)	ITSN1-related disorder	GLikely benign
Select item 3036940	NM_003024.3(ITSN1):c.3891-6G>A	ITSN1	Single nucleotide variant (intron variant)	ITSN1-related disorder	GLikely benign
Select item 3036778	NM_003024.3(ITSN1):c.*6G>A	ITSN1	Single nucleotide variant (3 prime UTR variant)	ITSN1-related disorder	GLikely benign
Select item 3036634	NM_003024.3(ITSN1):c.3744C>T (p.Thr1248=)	ITSN1	Single nucleotide variant (synonymous variant)	ITSN1-related disorder	GLikely benign
Select item 3036520	NM_003024.3(ITSN1):c.1455+8A>C	ITSN1	Single nucleotide variant (intron variant)	ITSN1-related disorder	GLikely benign
Select item 3035571	NM_003024.3(ITSN1):c.4078T>C (p.Leu1360=)	ITSN1	Single nucleotide variant (synonymous variant)	ITSN1-related disorder	GLikely benign
Select item 3034830	NM_003024.3(ITSN1):c.189A>G (p.Ala63=)	ITSN1	Single nucleotide variant (synonymous variant)	ITSN1-related disorder	GLikely benign
Select item 3033288	NM_003024.3(ITSN1):c.963C>T (p.Ser321=)	ITSN1	Single nucleotide variant (synonymous variant)	ITSN1-related disorder	GLikely benign
Select item 3032326	NM_003024.3(ITSN1):c.3700A>G (p.Thr1234Ala)	ITSN1 (T1229A +1 more)	Single nucleotide variant (missense variant)	ITSN1-related disorder	GLikely benign
Select item 3031928	NM_003024.3(ITSN1):c.1374A>G (p.Leu458=)	ITSN1	Single nucleotide variant (synonymous variant)	ITSN1-related disorder	GLikely benign
Select item 3031789	NM_003024.3(ITSN1):c.4503C>T (p.Thr1501=)	ITSN1	Single nucleotide variant (synonymous variant)	ITSN1-related disorder	GLikely benign
Select item 3030431	NM_003024.3(ITSN1):c.4510G>A (p.Val1504Ile)	ITSN1 (V1499I +1 more)	Single nucleotide variant (missense variant)	ITSN1-related disorder	GUncertain significance
Select item 3030407	NM_003024.3(ITSN1):c.1015CAA[2] (p.Gln341del)	ITSN1 (Q304del +1 more)	Microsatellite	ITSN1-related disorder	GUncertain significance
Select item 3029563	NM_003024.3(ITSN1):c.3606G>A (p.Gly1202=)	ITSN1	Single nucleotide variant (synonymous variant)	ITSN1-related disorder	GLikely benign
Select item 3025504	NM_003024.3(ITSN1):c.816A>G (p.Gly272=)	ITSN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877123	NM_003024.3(ITSN1):c.2348G>A (p.Gly783Asp)	ITSN1 (G778D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2703495	NM_003024.3(ITSN1):c.1684+5G>T	ITSN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2697723	NM_003024.3(ITSN1):c.4379C>T (p.Pro1460Leu)	ITSN1 (P1460L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689268	NM_003024.3(ITSN1):c.908A>G (p.Tyr303Cys)	ITSN1 (Y266C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689267	NM_003024.3(ITSN1):c.25G>A (p.Gly9Ser)	ITSN1 (G9S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 2672130	NM_003024.3(ITSN1):c.2644C>A (p.Pro882Thr)	ITSN1 (P840T +2 more)	Single nucleotide variant (missense variant)	ITSN1-related neurodevelopmental disorders	GUncertain significance
Select item 2663658	NM_003024.3(ITSN1):c.2978_2980dup (p.Val993_Ala994insVal)	ITSN1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2662286	NM_003024.3(ITSN1):c.1954C>T (p.Arg652Ter)	ITSN1 (R615* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2662070	NM_003024.3(ITSN1):c.2330G>T (p.Ser777Ile)	ITSN1 (S735I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652633	NM_003024.3(ITSN1):c.4608C>T (p.Asp1536=)	ITSN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652632	NM_003024.3(ITSN1):c.2079C>T (p.Gly693=)	ITSN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652631	NM_003024.3(ITSN1):c.1043-18T>C	ITSN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652630	NM_003024.3(ITSN1):c.69G>A (p.Ala23=)	ITSN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635400	NM_003024.3(ITSN1):c.1615G>A (p.Gly539Arg)	ITSN1 (G502R +1 more)	Single nucleotide variant (missense variant)	ITSN1-related disorder	GUncertain significance

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