"GeneDx"[submitter] AND "TJP2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59106	GRCh38/hg38 9q21.11-21.12(chr9:68426796-69606104)x1	APBA1, BANCR +40 more	Copy number loss	See cases	GPathogenic
Select item 1193186	NM_001170414.2(TJP2):c.-10+22063G>A	TJP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280535	NM_001170414.2(TJP2):c.-10+22220G>A	LOC130001866, TJP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213124	NM_001170414.2(TJP2):c.-10+22244C>T	LOC130001866, TJP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259088	NM_001170414.2(TJP2):c.-10+22262C>A	LOC130001866, TJP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251404	NM_004817.3(TJP2):c.-185G>A	LOC130001866, TJP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1277563	NM_004817.3(TJP2):c.-133C>T	LOC130001866, TJP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 508600	NM_004817.4(TJP2):c.-26G>A	TJP2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3371975	NM_004817.4(TJP2):c.-16_-2del	TJP2	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 289540	NM_004817.4(TJP2):c.19C>T (p.Arg7Cys)	TJP2 (R7C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 596623	NM_004817.4(TJP2):c.37C>T (p.Arg13Trp)	TJP2 (R13W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1695497	NM_004817.4(TJP2):c.49G>C (p.Gly17Arg)	TJP2 (G17R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 682800	NM_004817.4(TJP2):c.60+39CGTGAG[3]	TJP2	Microsatellite (intron variant)	not provided	GBenign
Select item 1274807	NM_004817.4(TJP2):c.61-7801G>T	LOC124292588, TJP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253713	NM_004817.4(TJP2):c.61-7692T>C	TJP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220827	NM_004817.4(TJP2):c.61-7456A>G	TJP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1198089	NM_004817.4(TJP2):c.61-7416G>A	TJP2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 178677	NM_004817.4(TJP2):c.61-7344G>C	TJP2 (V15L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 44104	NM_004817.4(TJP2):c.61-7316G>A	TJP2 (R24H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1181369	NM_004817.4(TJP2):c.61-6972G>C	TJP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208451	NM_004817.4(TJP2):c.61-6929A>G	TJP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205433	NM_004817.4(TJP2):c.61-301T>C	TJP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680231	NM_004817.4(TJP2):c.61-7A>G	TJP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 165402	NM_004817.4(TJP2):c.61-6A>T	TJP2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 598215	NM_004817.4(TJP2):c.64C>G (p.Pro22Ala)	TJP2 (P22A +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2460165	NM_004817.4(TJP2):c.79C>G (p.Leu27Val)	TJP2 (L31V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1229523	NM_004817.4(TJP2):c.114+101T>C	TJP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186539	NM_004817.4(TJP2):c.115-304G>A	TJP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278190	NM_004817.4(TJP2):c.115-229C>A	TJP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275385	NM_004817.4(TJP2):c.115-94T>G	TJP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2907	NM_004817.4(TJP2):c.143T>C (p.Val48Ala)	TJP2 (V48A +3 more)	Single nucleotide variant (missense variant)	Hypercholanemia, familial 1 +1 more	GPathogenic/Likely pathogenic
Select item 165403	NM_004817.4(TJP2):c.185C>T (p.Thr62Met)	TJP2 (T39M +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1305301	NM_004817.4(TJP2):c.190A>G (p.Ile64Val)	TJP2 (I41V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310914	NM_004817.4(TJP2):c.213G>A (p.Pro71=)	TJP2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1205402	NM_004817.4(TJP2):c.239+16C>T	TJP2	Single nucleotide variant (intron variant)	not provided	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 1287002	NM_004817.4(TJP2):c.239+173dup	TJP2	Duplication (intron variant)	not provided	GBenign
Select item 1187800	NM_004817.4(TJP2):c.240-231C>T	TJP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 595757	NM_004817.4(TJP2):c.274C>G (p.Pro92Ala)	TJP2 (P92A +3 more)	Single nucleotide variant (missense variant)	not provided	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 179149	NM_004817.4(TJP2):c.322A>T (p.Ser108Cys)	TJP2 (S108C +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 597953	NM_004817.4(TJP2):c.334G>A (p.Ala112Thr)	TJP2 (A112T +3 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 178640	NM_004817.4(TJP2):c.342+12G>T	TJP2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1251661	NM_004817.4(TJP2):c.342+102C>T	TJP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192085	NM_004817.4(TJP2):c.342+111C>T	TJP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187184	NM_004817.4(TJP2):c.343-117T>C	TJP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223399	NM_004817.4(TJP2):c.343-28G>A	TJP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1305090	NM_004817.4(TJP2):c.356C>T (p.Pro119Leu)	TJP2 (P119L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 287929	NM_004817.4(TJP2):c.375C>T (p.Ala125=)	TJP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1490331	NM_004817.4(TJP2):c.413G>A (p.Arg138Gln)	TJP2 (R115Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698755	NM_004817.4(TJP2):c.428T>C (p.Met143Thr)	TJP2 (M120T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1809950	NM_004817.4(TJP2):c.432C>G (p.Asp144Glu)	TJP2 (D121E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311750	NM_004817.4(TJP2):c.440A>G (p.Asp147Gly)	TJP2 (D124G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978960	NM_004817.4(TJP2):c.454C>T (p.Arg152Trp)	TJP2 (R152W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3177672	NM_004817.4(TJP2):c.488G>A (p.Ser163Asn)	TJP2 (S140N +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1878714	NM_004817.4(TJP2):c.490C>T (p.His164Tyr)	TJP2 (H141Y +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1502072	NM_004817.4(TJP2):c.499C>T (p.Arg167Cys)	TJP2 (R167C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3342623	NM_004817.4(TJP2):c.551_568del (p.Ala184_Arg189del)	TJP2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2582143	NM_004817.4(TJP2):c.559C>G (p.Arg187Gly)	TJP2 (R164G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280808	NM_004817.4(TJP2):c.570_574dup (p.Ser192fs)	TJP2 (S192fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 504237	NM_004817.4(TJP2):c.590_601del (p.Arg197_Ser200del)	TJP2	Deletion (inframe_deletion)	Cholestasis, progressive familial intrahepatic, 4 +1 more	GUncertain significance
Select item 1308061	NM_004817.4(TJP2):c.599G>T (p.Ser200Ile)	TJP2 (S177I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310612	NM_004817.4(TJP2):c.607C>T (p.Arg203Trp)	TJP2 (R180W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 597857	NM_004817.4(TJP2):c.629C>G (p.Ala210Gly)	TJP2 (A210G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 595132	NM_004817.4(TJP2):c.631C>T (p.Arg211Cys)	TJP2 (R211C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1214663	NM_004817.4(TJP2):c.638G>T (p.Arg213Leu)	TJP2 (R190L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3371672	NM_004817.4(TJP2):c.641A>G (p.Asp214Gly)	TJP2 (D191G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 178542	NM_004817.4(TJP2):c.644G>A (p.Arg215His)	TJP2 (R192H +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2574977	NM_004817.4(TJP2):c.679C>T (p.His227Tyr)	TJP2 (H204Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 165406	NM_004817.4(TJP2):c.698G>A (p.Arg233Gln)	TJP2 (R210Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1307766	NM_004817.4(TJP2):c.720C>A (p.Ser240Arg)	TJP2 (S217R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499935	NM_004817.4(TJP2):c.764G>A (p.Arg255Gln)	TJP2 (R232Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 139627	NM_004817.4(TJP2):c.766_769del (p.Ala256fs)	TJP2 (A260fs +3 more)	Deletion (frameshift variant)	Hypercholanemia, familial 1 +1 more	GConflicting classifications of pathogenicity
Select item 1712887	NM_004817.4(TJP2):c.782A>G (p.Tyr261Cys)	TJP2 (Y238C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1412106	NM_004817.4(TJP2):c.788G>A (p.Arg263Gln)	TJP2 (R267Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310907	NM_004817.4(TJP2):c.821G>A (p.Arg274His)	TJP2 (R251H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2504313	NM_004817.4(TJP2):c.838C>T (p.Arg280Trp)	TJP2 (R257W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331321	NM_004817.4(TJP2):c.839G>T (p.Arg280Leu)	TJP2 (R257L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300789	NM_004817.4(TJP2):c.849A>C (p.Arg283=)	TJP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 289826	NM_004817.4(TJP2):c.850AGCCGC[3] (p.284SR[3])	TJP2	Microsatellite (inframe_insertion)	not provided	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)	not provided	GConflicting classifications of pathogenicity
Select item 1311744	NM_004817.4(TJP2):c.877C>T (p.Arg293Trp)	TJP2 (R270W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 367217	NM_004817.4(TJP2):c.887G>A (p.Ser296Asn)	TJP2 (S296N +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 288101	NM_004817.4(TJP2):c.908C>T (p.Pro303Leu)	TJP2 (P303L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3343572	NM_004817.4(TJP2):c.910G>A (p.Gly304Arg)	TJP2 (G281R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 289809	NM_004817.4(TJP2):c.919G>A (p.Gly307Arg)	TJP2 (G307R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310582	NM_004817.4(TJP2):c.952+3A>G	TJP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1261046	NM_004817.4(TJP2):c.952+39A>G	TJP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196087	NM_004817.4(TJP2):c.952+52T>C	TJP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188331	NM_004817.4(TJP2):c.952+74del	TJP2	Deletion (intron variant)	not provided	GLikely benign
Select item 1262988	NM_004817.4(TJP2):c.952+160T>C	TJP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270214	NM_004817.4(TJP2):c.952+319G>A	TJP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265721	NM_004817.4(TJP2):c.953-295G>C	TJP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233349	NM_004817.4(TJP2):c.953-175T>G	TJP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1694000	NM_004817.4(TJP2):c.964C>T (p.Arg322Trp)	TJP2 (R299W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306249	NM_004817.4(TJP2):c.984C>T (p.Phe328=)	TJP2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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