"PreventionGenetics, part of Exact Sciences"[submitter] AND "TJP2"[gen - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 259548	NM_004817.4(TJP2):c.-16G>T	TJP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3031767	NM_004817.4(TJP2):c.55C>T (p.Leu19Phe)	TJP2 (L19F)	Single nucleotide variant (missense variant +1 more)	TJP2-related condition	GLikely benign
Select item 3049789	NM_004817.4(TJP2):c.60+7G>C	TJP2	Single nucleotide variant (intron variant)	TJP2-related condition	GLikely benign
Select item 178677	NM_004817.4(TJP2):c.61-7344G>C	TJP2 (V15L)	Single nucleotide variant (missense variant +1 more)	TJP2-related condition +2 more	GBenign/Likely benign
Select item 594245	NM_004817.4(TJP2):c.61-7293C>G	TJP2 (P32A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 596651	NM_004817.4(TJP2):c.61-7267A>G	TJP2	Single nucleotide variant (synonymous variant +1 more)	TJP2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 165402	NM_004817.4(TJP2):c.61-6A>T	TJP2	Single nucleotide variant (intron variant)	TJP2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 165403	NM_004817.4(TJP2):c.185C>T (p.Thr62Met)	TJP2 (T39M +3 more)	Single nucleotide variant (missense variant)	TJP2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 259553	NM_004817.4(TJP2):c.239+14del	TJP2	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 196398	NM_004817.4(TJP2):c.239+19T>C	TJP2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 3033220	NM_004817.4(TJP2):c.277A>G (p.Met93Val)	TJP2 (M124V +3 more)	Single nucleotide variant (missense variant)	TJP2-related condition	GUncertain significance
Select item 44097	NM_004817.4(TJP2):c.297G>A (p.Ser99=)	TJP2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 178640	NM_004817.4(TJP2):c.342+12G>T	TJP2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3032398	NM_004817.4(TJP2):c.357C>T (p.Pro119=)	TJP2	Single nucleotide variant (synonymous variant)	TJP2-related condition	GLikely benign
Select item 44100	NM_004817.4(TJP2):c.382C>A (p.Gln128Lys)	TJP2 (Q128K +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 281737	NM_004817.4(TJP2):c.395C>G (p.Pro132Arg)	TJP2 (P163R +3 more)	Single nucleotide variant (missense variant)	TJP2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 3034757	NM_004817.4(TJP2):c.476G>T (p.Ser159Ile)	TJP2 (S136I +3 more)	Single nucleotide variant (missense variant)	TJP2-related condition	GUncertain significance
Select item 3035957	NM_004817.4(TJP2):c.559_565del (p.Arg187fs)	TJP2 (R164fs +3 more)	Deletion (frameshift variant)	TJP2-related condition	GLikely pathogenic
Select item 597857	NM_004817.4(TJP2):c.629C>G (p.Ala210Gly)	TJP2 (A210G +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3033943	NM_004817.4(TJP2):c.639A>C (p.Arg213=)	TJP2	Single nucleotide variant (synonymous variant)	TJP2-related condition	GLikely benign
Select item 3036485	NM_004817.4(TJP2):c.699G>A (p.Arg233=)	TJP2	Single nucleotide variant (synonymous variant)	TJP2-related condition	GLikely benign
Select item 3058299	NM_004817.4(TJP2):c.721C>T (p.Arg241Cys)	TJP2 (R218C +3 more)	Single nucleotide variant (missense variant)	TJP2-related condition	GUncertain significance
Select item 3032599	NM_004817.4(TJP2):c.801G>A (p.Pro267=)	TJP2	Single nucleotide variant (synonymous variant)	TJP2-related condition	GLikely benign
Select item 3047992	NM_004817.4(TJP2):c.819C>T (p.Ala273=)	TJP2	Single nucleotide variant (synonymous variant)	TJP2-related condition	GLikely benign
Select item 3061689	NM_004817.4(TJP2):c.825C>T (p.His275=)	TJP2	Single nucleotide variant (synonymous variant)	TJP2-related condition	GLikely benign
Select item 502020	NM_004817.4(TJP2):c.848G>A (p.Arg283Gln)	TJP2 (R283Q +3 more)	Single nucleotide variant (missense variant)	TJP2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 289826	NM_004817.4(TJP2):c.850AGCCGC[3] (p.284SR[3])	TJP2	Microsatellite (inframe_insertion)	TJP2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1309993	NM_004817.4(TJP2):c.853C>T (p.Arg285Cys)	TJP2 (R262C +3 more)	Single nucleotide variant (missense variant)	TJP2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 367217	NM_004817.4(TJP2):c.887G>A (p.Ser296Asn)	TJP2 (S296N +3 more)	Single nucleotide variant (missense variant)	TJP2-related condition +2 more	GLikely benign
Select item 288101	NM_004817.4(TJP2):c.908C>T (p.Pro303Leu)	TJP2 (P303L +3 more)	Single nucleotide variant (missense variant)	TJP2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 287707	NM_004817.4(TJP2):c.911G>A (p.Gly304Glu)	TJP2 (G304E +3 more)	Single nucleotide variant (missense variant)	TJP2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 44102	NM_004817.4(TJP2):c.918C>T (p.Ile306=)	TJP2	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 500078	NM_004817.4(TJP2):c.972G>T (p.Gly324=)	TJP2	Single nucleotide variant (synonymous variant)	TJP2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 595681	NM_004817.4(TJP2):c.981C>A (p.Ile327=)	TJP2	Single nucleotide variant (synonymous variant)	TJP2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 511183	NM_004817.4(TJP2):c.1005G>A (p.Thr335=)	TJP2	Single nucleotide variant (synonymous variant)	TJP2-related condition +1 more	GLikely benign
Select item 489223	NM_004817.4(TJP2):c.1056+2T>C	TJP2	Single nucleotide variant (splice donor variant)	TJP2-related condition +3 more	GLikely pathogenic
Select item 259549	NM_004817.4(TJP2):c.1057-17A>G	TJP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 259550	NM_004817.4(TJP2):c.1063G>C (p.Gly355Arg)	TJP2 (G355R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 178639	NM_004817.4(TJP2):c.1091C>T (p.Thr364Met)	TJP2 (T341M +3 more)	Single nucleotide variant (missense variant)	TJP2-related condition +2 more	GBenign
Select item 44090	NM_004817.4(TJP2):c.1137A>G (p.Leu379=)	TJP2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1395279	NM_004817.4(TJP2):c.1202A>G (p.Glu401Gly)	TJP2 (E401G +3 more)	Single nucleotide variant (missense variant)	TJP2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 397505	NM_004817.4(TJP2):c.1210G>A (p.Asp404Asn)	TJP2 (D404N +3 more)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 4 +1 more	GLikely pathogenic
Select item 178543	NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys)	TJP2 (R397C +3 more)	Single nucleotide variant (missense variant)	TJP2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 165408	NM_004817.4(TJP2):c.1350C>T (p.Ser450=)	TJP2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 44091	NM_004817.4(TJP2):c.1446C>A (p.Asp482Glu)	TJP2 (D482E +4 more)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 4 +3 more	GBenign
Select item 178544	NM_004817.4(TJP2):c.1521-7A>C	TJP2	Single nucleotide variant (intron variant)	TJP2-related condition +2 more	GBenign/Likely benign
Select item 2380126	NM_004817.4(TJP2):c.1628C>T (p.Ser543Leu)	TJP2 (S543L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 499525	NM_004817.4(TJP2):c.1629G>A (p.Ser543=)	TJP2	Single nucleotide variant (synonymous variant)	TJP2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 259551	NM_004817.4(TJP2):c.1672-20C>G	TJP2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3033121	NM_004817.4(TJP2):c.1710T>C (p.Asp570=)	TJP2	Single nucleotide variant (synonymous variant)	TJP2-related condition	GLikely benign
Select item 2413634	NM_004817.4(TJP2):c.1776C>T (p.Ala592=)	TJP2	Single nucleotide variant (synonymous variant)	TJP2-related condition +1 more	GLikely benign
Select item 44094	NM_004817.4(TJP2):c.1917C>T (p.Asp639=)	TJP2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 44095	NM_004817.4(TJP2):c.2004G>A (p.Met668Ile)	TJP2 (M668I +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 595178	NM_004817.4(TJP2):c.2034C>T (p.Asn678=)	TJP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 44096	NM_004817.4(TJP2):c.2040G>A (p.Gly680=)	TJP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 178641	NM_004817.4(TJP2):c.2131T>C (p.Ser711Pro)	TJP2 (S688P +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3051383	NM_004817.4(TJP2):c.2136C>G (p.Val712=)	TJP2	Single nucleotide variant (synonymous variant)	TJP2-related condition	GLikely benign
Select item 165414	NM_004817.4(TJP2):c.2137A>G (p.Ser713Gly)	TJP2 (S690G +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 598510	NM_004817.4(TJP2):c.2270C>T (p.Thr757Ile)	TJP2 (T757I +4 more)	Single nucleotide variant (missense variant)	TJP2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 259552	NM_004817.4(TJP2):c.2275+16T>G	TJP2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 502683	NM_004817.4(TJP2):c.2335G>A (p.Val779Met)	TJP2 (V779M +4 more)	Single nucleotide variant (missense variant)	TJP2-related condition +2 more	GUncertain significance
Select item 165415	NM_004817.4(TJP2):c.2367A>G (p.Ala789=)	TJP2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 367227	NM_004817.4(TJP2):c.2384C>T (p.Pro795Leu)	TJP2 (P795L +4 more)	Single nucleotide variant (missense variant)	TJP2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 598358	NM_004817.4(TJP2):c.2509C>T (p.Arg837Ter)	TJP2 (R837* +4 more)	Single nucleotide variant (nonsense)	TJP2-related condition +1 more	GPathogenic/Likely pathogenic
Select item 165416	NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg)	TJP2 (Q856R +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 44098	NM_004817.4(TJP2):c.2646G>A (p.Ala882=)	TJP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 178679	NM_004817.4(TJP2):c.2691C>T (p.Pro897=)	TJP2	Single nucleotide variant (synonymous variant +1 more)	TJP2-related condition +2 more	GBenign/Likely benign
Select item 44105	NM_004817.4(TJP2):c.2715C>T (p.Thr905=)	TJP2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 165417	NM_004817.4(TJP2):c.2720T>C (p.Met907Thr)	TJP2 (M907T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 44106	NM_004817.4(TJP2):c.2727G>A (p.Ala909=)	TJP2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 498684	NM_004817.4(TJP2):c.2751C>T (p.Arg917=)	TJP2	Single nucleotide variant (synonymous variant +1 more)	TJP2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 367228	NM_004817.4(TJP2):c.2775G>A (p.Thr925=)	TJP2	Single nucleotide variant (synonymous variant +1 more)	TJP2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 44107	NM_004817.4(TJP2):c.2778C>T (p.Asp926=)	TJP2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 3061346	NM_004817.4(TJP2):c.2802C>A (p.Asp934Glu)	TJP2 (D909E +4 more)	Single nucleotide variant (missense variant +1 more)	TJP2-related condition	GUncertain significance
Select item 178680	NM_004817.4(TJP2):c.2810T>C (p.Leu937Pro)	TJP2 (L937P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 228009	NM_004817.4(TJP2):c.2819C>T (p.Pro940Leu)	TJP2 (P940L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 3031600	NM_004817.4(TJP2):c.2823C>T (p.Ala941=)	TJP2	Single nucleotide variant (synonymous variant +1 more)	TJP2-related condition	GLikely benign
Select item 1482430	NM_004817.4(TJP2):c.2852G>A (p.Arg951His)	TJP2 (R982H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 165420	NM_004817.4(TJP2):c.2859G>T (p.Ser953=)	TJP2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 229312	NM_004817.4(TJP2):c.2864C>T (p.Pro955Leu)	TJP2 (P955L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1991912	NM_004817.4(TJP2):c.2880+15G>T	TJP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 290789	NM_004817.4(TJP2):c.2880+17C>T	TJP2	Single nucleotide variant (intron variant)	TJP2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 367231	NM_004817.4(TJP2):c.2909G>A (p.Arg970Gln)	TJP2 (R970Q +4 more)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic Hearing Loss, Dominant +3 more	GUncertain significance
Select item 367232	NM_004817.4(TJP2):c.2937C>T (p.Ser979=)	TJP2	Single nucleotide variant (synonymous variant +1 more)	TJP2-related condition +1 more	GLikely benign
Select item 597921	NM_004817.4(TJP2):c.2961G>A (p.Pro987=)	TJP2	Single nucleotide variant (synonymous variant +1 more)	TJP2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 259554	NM_004817.4(TJP2):c.2992-19G>A	TJP2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 45110	NM_004817.4(TJP2):c.3029C>T (p.Ser1010Phe)	TJP2 (S1010F +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 501647	NM_004817.4(TJP2):c.3067_3068delinsTT (p.Ala1023Phe)	TJP2 (A915F +7 more)	Indel (missense variant +1 more)	TJP2-related condition +1 more	GUncertain significance
Select item 281732	NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val)	TJP2 (A1023V +7 more)	Single nucleotide variant (missense variant +1 more)	TJP2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 595175	NM_004817.4(TJP2):c.3076G>A (p.Glu1026Lys)	TJP2 (E1026K +7 more)	Single nucleotide variant (missense variant +1 more)	TJP2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2974331	NM_004817.4(TJP2):c.3141G>T (p.Arg1047=)	TJP2	Single nucleotide variant (synonymous variant +1 more)	TJP2-related condition +1 more	GLikely benign
Select item 513994	NM_004817.4(TJP2):c.3225C>T (p.Pro1075=)	TJP2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 3051757	NM_004817.4(TJP2):c.3235C>T (p.Leu1079=)	TJP2	Single nucleotide variant (synonymous variant +1 more)	TJP2-related condition	GLikely benign
Select item 2420852	NM_004817.4(TJP2):c.3238G>A (p.Gly1080Ser)	TJP2 (G1043S +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 165425	NM_004817.4(TJP2):c.3342T>C (p.His1114=)	TJP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 367235	NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met)	TJP2 (T1124M +10 more)	Single nucleotide variant (missense variant)	TJP2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 259555	NM_004817.4(TJP2):c.3372G>A (p.Thr1124=)	TJP2	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 502567	NM_004817.4(TJP2):c.3392C>T (p.Thr1131Met)	TJP2 (T1131M +10 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 502609	NM_004817.4(TJP2):c.3405G>A (p.Thr1135=)	TJP2	Single nucleotide variant (synonymous variant)	TJP2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 228008	NM_004817.4(TJP2):c.3407+7G>A	TJP2	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign

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