"PreventionGenetics, part of Exact Sciences"[submitter] AND "TJP1"[gen - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3046397	NM_001330239.4(TJP1):c.5157G>A (p.Ala1719=)	TJP1	Single nucleotide variant (synonymous variant +1 more)	TJP1-related disorder	GLikely benign
Select item 3035457	NM_001330239.4(TJP1):c.5106C>T (p.Pro1702=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GLikely benign
Select item 3047597	NM_001330239.4(TJP1):c.5094G>A (p.Val1698=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GLikely benign
Select item 3038792	NM_001330239.4(TJP1):c.5016T>C (p.Tyr1672=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GLikely benign
Select item 3050288	NM_001330239.4(TJP1):c.4464A>G (p.Pro1488=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GLikely benign
Select item 3060817	NM_001330239.4(TJP1):c.4161G>T (p.Ala1387=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GBenign
Select item 3059277	NM_001330239.4(TJP1):c.4128C>T (p.Ala1376=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GBenign
Select item 3056593	NM_001330239.4(TJP1):c.4040A>C (p.Asp1347Ala)	TJP1 (D1267A +4 more)	Single nucleotide variant (missense variant)	TJP1-related disorder	GBenign
Select item 3044006	NM_001330239.4(TJP1):c.4032T>C (p.Asn1344=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GLikely benign
Select item 3060777	NM_001330239.4(TJP1):c.3877-8_3877-7del	LOC126862085, TJP1	Deletion (intron variant)	TJP1-related disorder	GBenign
Select item 3041210	NM_001330239.4(TJP1):c.3877-9_3877-7del	LOC126862085, TJP1	Deletion (intron variant)	TJP1-related disorder	GBenign
Select item 3048847	NM_001330239.4(TJP1):c.3519G>A (p.Pro1173=)	LOC126862085, TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GLikely benign
Select item 3052496	NM_001330239.4(TJP1):c.3333T>G (p.Ser1111=)	LOC126862085, TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GLikely benign
Select item 3043949	NM_001330239.4(TJP1):c.3230G>A (p.Arg1077His)	LOC126862085, TJP1 (R1001H +4 more)	Single nucleotide variant (missense variant)	TJP1-related disorder	GLikely benign
Select item 784613	NM_001330239.4(TJP1):c.3215G>A (p.Arg1072Gln)	TJP1, LOC126862085 (R1072Q +4 more)	Single nucleotide variant (missense variant)	TJP1-related disorder +1 more	GBenign
Select item 3056383	NM_001330239.4(TJP1):c.3111G>C (p.Leu1037=)	LOC126862085, TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GBenign
Select item 3039763	NM_001330239.4(TJP1):c.3070G>A (p.Val1024Ile)	LOC126862085, TJP1 (V1024I +4 more)	Single nucleotide variant (missense variant)	TJP1-related disorder	GLikely benign
Select item 714590	NM_001330239.4(TJP1):c.2933G>A (p.Ser978Asn)	TJP1 (S1071N +2 more)	Single nucleotide variant (missense variant +1 more)	TJP1-related disorder +1 more	GBenign
Select item 3040102	NM_001330239.4(TJP1):c.2559C>T (p.Tyr853=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GBenign
Select item 2645098	NM_001330239.4(TJP1):c.2415G>A (p.Ala805=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder +1 more	GLikely benign
Select item 3056098	NM_001330239.4(TJP1):c.2368A>G (p.Ile790Val)	TJP1 (I790V +2 more)	Single nucleotide variant (missense variant)	TJP1-related disorder	GBenign
Select item 3044171	NM_001330239.4(TJP1):c.2241T>G (p.Ser747=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GLikely benign
Select item 2645099	NM_001330239.4(TJP1):c.2071C>T (p.Leu691=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder +1 more	GBenign/Likely benign
Select item 3043274	NM_001330239.4(TJP1):c.2017+9C>A	TJP1	Single nucleotide variant (intron variant)	TJP1-related disorder	GLikely benign
Select item 3044275	NM_001330239.4(TJP1):c.1737-9C>G	TJP1	Single nucleotide variant (intron variant)	TJP1-related disorder	GBenign
Select item 2269938	NM_001330239.4(TJP1):c.1631G>A (p.Arg544His)	TJP1 (R637H +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 771470	NM_001330239.4(TJP1):c.1412A>G (p.Asn471Ser)	TJP1 (N471S +2 more)	Single nucleotide variant (missense variant)	TJP1-related disorder +1 more	GBenign
Select item 3056576	NM_001330239.4(TJP1):c.1086C>T (p.His362=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GBenign
Select item 3041919	NM_001330239.4(TJP1):c.822T>C (p.Leu274=)	LOC126862086, TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GBenign
Select item 3033497	NM_001330239.4(TJP1):c.313-4G>T	TJP1	Single nucleotide variant (intron variant)	TJP1-related disorder	GLikely benign
Select item 3041572	NM_001355012.2(TJP1):c.173+7C>G	TJP1	Single nucleotide variant (intron variant)	TJP1-related disorder	GLikely benign
Select item 3042194	NM_001355012.2(TJP1):c.156G>C (p.Pro52=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GBenign
Select item 3056901	NM_001355012.2(TJP1):c.60C>G (p.Arg20=)	TJP1	Single nucleotide variant (synonymous variant)	TJP1-related disorder	GBenign

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Items: 33